#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A1CF	29974	genome.wustl.edu	37	10	52601632	52601632	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:52601632A>T	ENST00000373993.1	-	3	399	c.355T>A	c.(355-357)Tat>Aat	p.Y119N	A1CF_ENST00000373995.3_Missense_Mutation_p.Y127N|A1CF_ENST00000395495.1_Missense_Mutation_p.Y119N|A1CF_ENST00000373997.3_Missense_Mutation_p.Y119N|A1CF_ENST00000282641.2_Missense_Mutation_p.Y119N|A1CF_ENST00000395489.2_Missense_Mutation_p.Y112N|A1CF_ENST00000374001.2_Missense_Mutation_p.Y119N			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	119	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTAATTTCATAATTATTAAGT	0.328																																						dbGAP											0													140.0	131.0	134.0					10																	52601632		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.355T>A	10.37:g.52601632A>T	ENSP00000363105:p.Tyr119Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.Y119N	ENST00000373993.1	37	c.355	CCDS7242.1	10	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344274	0.82022	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.76494	0.98;0.984;0.999;0.989	P;P;D;P	0.67548	0.759;0.845;0.952;0.831	T	0.05241	-1.0897	10	0.66056	D	0.02	-4.7153	14.0338	0.64632	1.0:0.0:0.0:0.0	.	112;119;119;127	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	N	119;119;119;127;119;119;102;112;119	ENSP00000363113:Y119N;ENSP00000363105:Y119N;ENSP00000363109:Y119N;ENSP00000363107:Y127N;ENSP00000282641:Y119N;ENSP00000378873:Y119N;ENSP00000378868:Y112N;ENSP00000397953:Y119N	ENSP00000282641:Y119N	Y	-	1	0	A1CF	52271638	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.244000	0.95423	2.206000	0.71126	0.383000	0.25322	TAT	A1CF	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000148584		0.328	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	HGNC	protein_coding	OTTHUMT00000048086.2	127	0.00	0	A	NM_014576		52601632	52601632	-1	no_errors	ENST00000282641	ensembl	human	known	69_37n	missense	88	33.83	45	SNP	1.000	T
ABCA13	154664	genome.wustl.edu	37	7	48288913	48288913	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:48288913T>C	ENST00000435803.1	+	15	1994	c.1970T>C	c.(1969-1971)gTa>gCa	p.V657A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	657					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCCAATATGTAAATATGCAA	0.378																																						dbGAP											0													100.0	97.0	98.0					7																	48288913		1824	4074	5898	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1970T>C	7.37:g.48288913T>C	ENSP00000411096:p.Val657Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V657A	ENST00000435803.1	37	c.1970	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759787	0.49468	.	.	ENSG00000179869	ENST00000435803	D	0.87887	-2.31	4.87	3.72	0.42706	.	0.143796	0.31747	N	0.007123	D	0.82277	0.5002	L	0.58101	1.795	0.22171	N	0.999315	B	0.14012	0.009	B	0.15052	0.012	T	0.70666	-0.4809	10	0.39692	T	0.17	.	7.2353	0.26066	0.0:0.1021:0.0:0.8979	.	657	Q86UQ4	ABCAD_HUMAN	A	657	ENSP00000411096:V657A	ENSP00000411096:V657A	V	+	2	0	ABCA13	48259459	0.858000	0.29795	0.010000	0.14722	0.040000	0.13550	0.455000	0.21843	0.816000	0.34421	0.528000	0.53228	GTA	ABCA13	-	NULL	ENSG00000179869		0.378	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	323	0.62	2	T	NM_152701		48288913	48288913	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	171	40.42	116	SNP	0.173	C
ABCA3	21	genome.wustl.edu	37	16	2331209	2331209	+	Missense_Mutation	SNP	C	C	A	rs148317800		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:2331209C>A	ENST00000301732.5	-	28	4878	c.4178G>T	c.(4177-4179)cGg>cTg	p.R1393L	ABCA3_ENST00000382381.3_Missense_Mutation_p.R1335L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1393	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GAGGGGCACCCGCTGCTCGTA	0.637																																						dbGAP											0													48.0	47.0	47.0					16																	2331209		2198	4300	6498	-	-	-	SO:0001583	missense	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4178G>T	16.37:g.2331209C>A	ENSP00000301732:p.Arg1393Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1393L	ENST00000301732.5	37	c.4178	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535346	0.27475	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D;D	0.94793	-2.79;-3.52	5.62	-0.781	0.10965	ABC transporter-like (1);	0.380502	0.29383	N	0.012314	D	0.87148	0.6105	L	0.28400	0.85	0.09310	N	0.999996	B;B	0.22851	0.0;0.076	B;B	0.24155	0.004;0.051	T	0.72357	-0.4318	10	0.11794	T	0.64	.	9.9469	0.41613	0.0:0.5904:0.0:0.4096	.	1397;1393	Q4LE27;Q99758	.;ABCA3_HUMAN	L	1393;1397	ENSP00000301732:R1393L;ENSP00000371818:R1397L	ENSP00000301732:R1393L	R	-	2	0	ABCA3	2271210	0.035000	0.19736	0.001000	0.08648	0.771000	0.43674	0.486000	0.22340	-0.365000	0.08076	-0.751000	0.03497	CGG	ABCA3	-	pfscan_ABC_transporter-like	ENSG00000167972		0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	17	0.00	0	C	NM_001089		2331209	2331209	-1	no_errors	ENST00000301732	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	0.014	A
ABCB1	5243	genome.wustl.edu	37	7	87144635	87144635	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:87144635G>A	ENST00000265724.3	-	26	3611	c.3194C>T	c.(3193-3195)aCg>aTg	p.T1065M	ABCB1_ENST00000543898.1_Missense_Mutation_p.T1001M|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1065	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CAGAGCCAGCGTCTGGCCCTT	0.572																																						dbGAP											0													66.0	60.0	62.0					7																	87144635		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3194C>T	7.37:g.87144635G>A	ENSP00000265724:p.Thr1065Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.T1065M	ENST00000265724.3	37	c.3194	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.383854	0.95967	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94046	-3.34;-3.34	6.06	6.06	0.98353	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	L	0.31294	0.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95188	0.8305	10	0.87932	D	0	-16.4922	19.609	0.95594	0.0:0.0:1.0:0.0	.	1001;1065	B5AK60;P08183	.;MDR1_HUMAN	M	846;1065;1001	ENSP00000265724:T1065M;ENSP00000444095:T1001M	ENSP00000265724:T1065M	T	-	2	0	ABCB1	86982571	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.862000	0.99564	2.882000	0.98803	0.655000	0.94253	ACG	ABCB1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000085563		0.572	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	120	0.00	0	G	NM_000927		87144635	87144635	-1	no_errors	ENST00000265724	ensembl	human	known	69_37n	missense	59	42.16	43	SNP	1.000	A
ABCC11	85320	genome.wustl.edu	37	16	48232087	48232087	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:48232087G>T	ENST00000394747.1	-	15	2531	c.2182C>A	c.(2182-2184)Caa>Aaa	p.Q728K	ABCC11_ENST00000537808.1_Missense_Mutation_p.Q728K|ABCC11_ENST00000394748.1_Missense_Mutation_p.Q728K|ABCC11_ENST00000353782.5_Missense_Mutation_p.Q728K|ABCC11_ENST00000356608.2_Missense_Mutation_p.Q728K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	728	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGGATAAGTTGGGCATATTTC	0.478																																						dbGAP											0													222.0	200.0	208.0					16																	48232087		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2182C>A	16.37:g.48232087G>T	ENSP00000378230:p.Gln728Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.Q728K	ENST00000394747.1	37	c.2182	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.633102	0.00806	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.59	4.44	0.53790	ABC transporter-like (1);	0.138230	0.50627	D	0.000120	T	0.30759	0.0775	N	0.02721	-0.515	0.34520	D	0.708071	B;B	0.24823	0.112;0.001	B;B	0.26094	0.066;0.002	T	0.39272	-0.9622	10	0.02654	T	1	-0.4639	8.374	0.32432	0.0:0.1472:0.5854:0.2674	.	728;728	Q96J66-2;Q96J66	.;ABCCB_HUMAN	K	728	ENSP00000311326:Q728K;ENSP00000349017:Q728K;ENSP00000378231:Q728K;ENSP00000378230:Q728K;ENSP00000438530:Q728K	ENSP00000311326:Q728K	Q	-	1	0	ABCC11	46789588	0.001000	0.12720	0.196000	0.23383	0.114000	0.19823	0.165000	0.16564	0.979000	0.38497	0.561000	0.74099	CAA	ABCC11	-	pfscan_ABC_transporter-like	ENSG00000121270		0.478	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	69	0.00	0	G	NM_032583		48232087	48232087	-1	no_errors	ENST00000356608	ensembl	human	known	69_37n	missense	17	55.26	21	SNP	0.963	T
ABCD2	225	genome.wustl.edu	37	12	39980086	39980086	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:39980086G>A	ENST00000308666.3	-	7	1795	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	554	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGACTTCCAAGAGACATATAT	0.393																																						dbGAP											0													129.0	113.0	118.0					12																	39980086		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1660C>T	12.37:g.39980086G>A	ENSP00000310688:p.Leu554Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L554F	ENST00000308666.3	37	c.1660	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994775	0.35226	.	.	ENSG00000173208	ENST00000308666	D	0.93811	-3.29	4.59	3.62	0.41486	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.131991	0.49916	D	0.000140	D	0.89660	0.6779	L	0.38649	1.16	0.43263	D	0.995201	B	0.21606	0.058	B	0.35899	0.213	D	0.84426	0.0574	9	.	.	.	-19.8847	10.5853	0.45280	0.0:0.0:0.6074:0.3926	.	554	Q9UBJ2	ABCD2_HUMAN	F	554	ENSP00000310688:L554F	.	L	-	1	0	ABCD2	38266353	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.061000	0.41403	2.247000	0.74100	0.462000	0.41574	CTT	ABCD2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000173208		0.393	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	83	0.00	0	G	NM_005164		39980086	39980086	-1	no_errors	ENST00000308666	ensembl	human	known	69_37n	missense	64	33.33	32	SNP	1.000	A
AOC1	26	genome.wustl.edu	37	7	150553665	150553665	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:150553665T>C	ENST00000493429.1	+	4	691	c.107T>C	c.(106-108)cTa>cCa	p.L36P	AOC1_ENST00000467291.1_Missense_Mutation_p.L36P|AOC1_ENST00000360937.4_Missense_Mutation_p.L36P|AOC1_ENST00000416793.2_Missense_Mutation_p.L36P			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	36					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TTTTCAGACCTAAGCAACCAA	0.637																																						dbGAP											0													77.0	79.0	78.0					7																	150553665		2019	4190	6209	-	-	-	SO:0001583	missense	0			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.107T>C	7.37:g.150553665T>C	ENSP00000418614:p.Leu36Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.L36P	ENST00000493429.1	37	c.107	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635464	0.47049	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.36	5.36	0.76844	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.66157	0.2761	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69698	-0.5075	10	0.87932	D	0	-1.3097	13.3127	0.60388	0.0:0.0:0.0:1.0	.	36;36	C9J690;P19801	.;ABP1_HUMAN	P	36	ENSP00000418614:L36P;ENSP00000418328:L36P;ENSP00000418557:L36P;ENSP00000354193:L36P;ENSP00000411613:L36P;ENSP00000417392:L36P	ENSP00000354193:L36P	L	+	2	0	ABP1	150184598	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.194000	0.77789	2.049000	0.60858	0.533000	0.62120	CTA	ABP1	-	superfamily_Cu_amine_oxidase_N-reg	ENSG00000002726		0.637	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	HGNC	protein_coding	OTTHUMT00000350628.1	74	0.00	0	T	NM_001091		150553665	150553665	+1	no_errors	ENST00000416793	ensembl	human	known	69_37n	missense	49	34.67	26	SNP	1.000	C
ABRA	137735	genome.wustl.edu	37	8	107781857	107781857	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:107781857T>C	ENST00000311955.3	-	1	616	c.562A>G	c.(562-564)Agc>Ggc	p.S188G		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTGTCTACGCTGTCACTCCTC	0.617																																						dbGAP											0													214.0	205.0	208.0					8																	107781857		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.562A>G	8.37:g.107781857T>C	ENSP00000311436:p.Ser188Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S188G	ENST00000311955.3	37	c.562	CCDS6305.1	8	.	.	.	.	.	.	.	.	.	.	T	17.05	3.290485	0.59976	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.07	6.07	0.98685	.	0.206562	0.64402	D	0.000014	T	0.74238	0.3690	L	0.55834	1.745	0.54753	D	0.999982	D	0.69078	0.997	D	0.66196	0.942	T	0.72814	-0.4179	9	0.39692	T	0.17	-27.9479	16.6288	0.85011	0.0:0.0:0.0:1.0	.	188	Q8N0Z2	ABRA_HUMAN	G	188	.	ENSP00000311436:S188G	S	-	1	0	ABRA	107851033	1.000000	0.71417	0.999000	0.59377	0.329000	0.28539	4.731000	0.62022	2.326000	0.78906	0.533000	0.62120	AGC	ABRA	-	NULL	ENSG00000174429		0.617	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	HGNC	protein_coding	OTTHUMT00000380416.1	308	0.32	1	T	NM_139166		107781857	107781857	-1	no_errors	ENST00000311955	ensembl	human	known	69_37n	missense	198	36.74	115	SNP	1.000	C
ACADSB	36	genome.wustl.edu	37	10	124802570	124802570	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:124802570G>T	ENST00000358776.4	+	6	704	c.690G>T	c.(688-690)aaG>aaT	p.K230N	ACADSB_ENST00000368869.4_Missense_Mutation_p.K128N|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	230	Substrate binding.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	AGGGATATAAGGGAATTACCT	0.378																																						dbGAP											0													134.0	142.0	139.0					10																	124802570		2203	4300	6503	-	-	-	SO:0001583	missense	0			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.690G>T	10.37:g.124802570G>T	ENSP00000357873:p.Lys230Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.K230N	ENST00000358776.4	37	c.690	CCDS7634.1	10	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374836	0.61735	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.99014	-5.33;-5.33	5.63	4.5	0.54988	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.177187	0.49305	D	0.000144	D	0.98795	0.9594	M	0.79475	2.455	0.53688	D	0.999976	D	0.54772	0.968	P	0.57057	0.812	D	0.98693	1.0697	10	0.87932	D	0	.	9.724	0.40320	0.8531:0.0:0.1469:0.0	.	230	P45954	ACDSB_HUMAN	N	128;230	ENSP00000357862:K128N;ENSP00000357873:K230N	ENSP00000357873:K230N	K	+	3	2	ACADSB	124792560	0.995000	0.38212	0.996000	0.52242	0.959000	0.62525	1.219000	0.32479	0.963000	0.38082	-0.484000	0.04775	AAG	ACADSB	-	superfamily_AcylCoA_DH/oxidase	ENSG00000196177		0.378	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADSB	HGNC	protein_coding	OTTHUMT00000050843.1	215	0.46	1	G	NM_001609		124802570	124802570	+1	no_errors	ENST00000358776	ensembl	human	known	69_37n	missense	102	37.80	62	SNP	1.000	T
ACCSL	390110	genome.wustl.edu	37	11	44070044	44070044	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:44070044A>G	ENST00000378832.1	+	1	514	c.458A>G	c.(457-459)tAc>tGc	p.Y153C		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	153					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTCCAGGACTACAATGCCTAC	0.498																																						dbGAP											0													63.0	64.0	63.0					11																	44070044		1903	4114	6017	-	-	-	SO:0001583	missense	0				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.458A>G	11.37:g.44070044A>G	ENSP00000368109:p.Tyr153Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	p.Y153C	ENST00000378832.1	37	c.458	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113755	0.56398	.	.	ENSG00000205126	ENST00000378832	T	0.70631	-0.5	4.2	1.75	0.24633	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.273852	0.37348	N	0.002137	T	0.75722	0.3888	L	0.59436	1.845	0.19575	N	0.999968	D	0.67145	0.996	D	0.63033	0.91	T	0.65907	-0.6054	10	0.87932	D	0	-8.7302	7.9067	0.29765	0.6728:0.0:0.0:0.3272	.	153	Q4AC99	1A1L2_HUMAN	C	153	ENSP00000368109:Y153C	ENSP00000368109:Y153C	Y	+	2	0	ACCSL	44026620	0.014000	0.17966	0.021000	0.16686	0.473000	0.32948	0.474000	0.22148	0.222000	0.20900	0.533000	0.62120	TAC	ACCSL	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000205126		0.498	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	119	0.00	0	A	NM_001031854		44070044	44070044	+1	no_errors	ENST00000378832	ensembl	human	known	69_37n	missense	64	36.63	37	SNP	0.069	G
ACHE	43	genome.wustl.edu	37	7	100488897	100488897	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:100488897T>C	ENST00000412389.1	-	3	1771	c.1616A>G	c.(1615-1617)cAg>cGg	p.Q539R	ACHE_ENST00000419336.2_Missense_Mutation_p.Q451R|ACHE_ENST00000411582.1_Missense_Mutation_p.Q539R|ACHE_ENST00000428317.1_Missense_Mutation_p.Q539R|ACHE_ENST00000241069.5_Missense_Mutation_p.Q539R|ACHE_ENST00000302913.4_Missense_Mutation_p.Q539R|UFSP1_ENST00000388761.2_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	539					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	AACGTACTGCTGAGCCCCCGC	0.682																																						dbGAP											0													18.0	22.0	21.0					7																	100488897		2152	4244	6396	-	-	-	SO:0001583	missense	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1616A>G	7.37:g.100488897T>C	ENSP00000394976:p.Gln539Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.Q539R	ENST00000412389.1	37	c.1616	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778969	0.31502	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	4.22	4.22	0.49857	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000001	T	0.20495	0.0493	N	0.04880	-0.145	0.43953	D	0.996627	B;D;D	0.71674	0.02;0.998;0.991	B;D;P	0.69142	0.01;0.962;0.857	T	0.11470	-1.0586	10	0.16896	T	0.51	.	11.5656	0.50802	0.0:0.0:0.0:1.0	.	451;539;539	P22303-3;P22303-2;P22303	.;.;ACES_HUMAN	R	451;539;539;539;539;539;539	ENSP00000403474:Q451R;ENSP00000241069:Q539R;ENSP00000414858:Q539R;ENSP00000303211:Q539R;ENSP00000394976:Q539R;ENSP00000404865:Q539R	ENSP00000241069:Q539R	Q	-	2	0	ACHE	100326833	1.000000	0.71417	0.996000	0.52242	0.681000	0.39784	3.737000	0.55060	1.676000	0.50930	0.363000	0.22086	CAG	ACHE	-	pfam_CarbesteraseB	ENSG00000087085		0.682	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	12	0.00	0	T	NM_015831		100488897	100488897	-1	no_errors	ENST00000302913	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	1.000	C
ACIN1	22985	genome.wustl.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|CDH24_ENST00000397359.3_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3880_3881delGA	14.37:g.23528512_23528513delTC	ENSP00000262710:p.Glu1294fs	Somatic	764	WXS	Illumina GAIIx	Phase_IV	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Del	DEL	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.E1294fs	ENST00000262710.1	37	c.3881_3880	CCDS9587.1	14																																																																																			ACIN1	-	NULL	ENSG00000100813		0.629	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	115	0.86	1	TC	NM_014977		23528502	23528503	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	frame_shift_del	141	30.77	64	DEL	0.413:0.452	-
ACSL5	51703	genome.wustl.edu	37	10	114164559	114164559	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:114164559C>T	ENST00000393081.1	+	5	734	c.427C>T	c.(427-429)Cca>Tca	p.P143S	ACSL5_ENST00000354273.4_Missense_Mutation_p.P143S|RP11-324O2.3_ENST00000598447.1_RNA|RP11-324O2.3_ENST00000449782.2_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.P143S|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000356116.1_Missense_Mutation_p.P199S|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000433418.1_Missense_Mutation_p.P143S	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	143					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCAGAATAGGCCAGAGGTAAC	0.408																																						dbGAP											0													136.0	137.0	137.0					10																	114164559		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.427C>T	10.37:g.114164559C>T	ENSP00000376796:p.Pro143Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P199S	ENST00000393081.1	37	c.595	CCDS7573.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.256596	0.95336	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.62	5.62	0.85841	AMP-dependent synthetase/ligase (1);	0.052663	0.85682	D	0.000000	T	0.74344	0.3704	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.995	D;D;D	0.97110	1.0;0.945;0.976	T	0.77670	-0.2501	10	0.66056	D	0.02	-12.7872	18.7951	0.91991	0.0:1.0:0.0:0.0	.	143;199;143	A6GV77;Q9ULC5-3;Q9ULC5	.;.;ACSL5_HUMAN	S	143;143;199;143;143	ENSP00000346680:P143S;ENSP00000376796:P143S;ENSP00000348429:P199S;ENSP00000403647:P143S;ENSP00000346223:P143S	ENSP00000346223:P143S	P	+	1	0	ACSL5	114154549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.446000	0.80609	2.804000	0.96469	0.655000	0.94253	CCA	ACSL5	-	pfam_AMP-dep_Synth/Lig	ENSG00000197142		0.408	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	281	0.00	0	C	NM_016234		114164559	114164559	+1	no_errors	ENST00000356116	ensembl	human	known	69_37n	missense	189	42.02	137	SNP	1.000	T
ACSL5	51703	genome.wustl.edu	37	10	114186982	114186982	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:114186982G>T	ENST00000393081.1	+	21	2225	c.1918G>T	c.(1918-1920)Gcc>Tcc	p.A640S	ACSL5_ENST00000354273.4_Missense_Mutation_p.A640S|ACSL5_ENST00000354655.4_Missense_Mutation_p.A640S|ACSL5_ENST00000356116.1_Missense_Mutation_p.A696S|ACSL5_ENST00000369410.3_Missense_Mutation_p.A422S|ACSL5_ENST00000433418.1_Missense_Mutation_p.A616S	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	640					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CCAGGTCAAAGCCATTTTTCT	0.453																																						dbGAP											0													111.0	107.0	108.0					10																	114186982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1918G>T	10.37:g.114186982G>T	ENSP00000376796:p.Ala640Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A696S	ENST00000393081.1	37	c.2086	CCDS7573.1	10	.	.	.	.	.	.	.	.	.	.	G	2.456	-0.325320	0.05350	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.95	-4.77	0.03219	.	1.062460	0.07140	N	0.847115	T	0.17492	0.0420	L	0.55017	1.72	0.09310	N	1	B;B;B;B	0.18610	0.002;0.0;0.029;0.005	B;B;B;B	0.17979	0.006;0.001;0.02;0.015	T	0.38972	-0.9636	10	0.08837	T	0.75	4.9679	5.0903	0.14704	0.2771:0.1041:0.5154:0.1033	.	422;616;696;640	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	S	640;640;696;616;640;422	ENSP00000346680:A640S;ENSP00000376796:A640S;ENSP00000348429:A696S;ENSP00000403647:A616S;ENSP00000346223:A640S;ENSP00000358418:A422S	ENSP00000346223:A640S	A	+	1	0	ACSL5	114176972	0.751000	0.28327	0.000000	0.03702	0.101000	0.19017	2.194000	0.42668	-0.711000	0.04995	-0.136000	0.14681	GCC	ACSL5	-	NULL	ENSG00000197142		0.453	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	213	0.00	0	G	NM_016234		114186982	114186982	+1	no_errors	ENST00000356116	ensembl	human	known	69_37n	missense	141	38.16	87	SNP	0.002	T
ACTA1	58	genome.wustl.edu	37	1	229568111	229568111	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:229568111C>T	ENST00000366684.3	-	4	624	c.522G>A	c.(520-522)ccG>ccA	p.P174P	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	174					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGATGGCGTGCGGCAGCGCGT	0.657																																						dbGAP											0													40.0	38.0	39.0					1																	229568111		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.522G>A	1.37:g.229568111C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P02568|P99020|Q5T8M9	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.P174	ENST00000366684.3	37	c.522	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-like,smart_Actin-like	ENSG00000143632		0.657	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	12	0.00	0	C	NM_001100		229568111	229568111	-1	no_errors	ENST00000366684	ensembl	human	known	69_37n	silent	21	32.26	10	SNP	0.571	T
ACY3	91703	genome.wustl.edu	37	11	67410227	67410227	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:67410227C>T	ENST00000255082.3	-	8	1098	c.928G>A	c.(928-930)Gcg>Acg	p.A310T	ACY3_ENST00000529256.1_Missense_Mutation_p.A189T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	310	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GGGGTCAGCGCGGGCATGGCA	0.587																																					GBM(56;346 1011 27014 29495 46841)	dbGAP											0													107.0	99.0	102.0					11																	67410227		2200	4294	6494	-	-	-	SO:0001583	missense	0			BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.928G>A	11.37:g.67410227C>T	ENSP00000255082:p.Ala310Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.A310T	ENST00000255082.3	37	c.928	CCDS8175.1	11	.	.	.	.	.	.	.	.	.	.	C	8.952	0.968507	0.18659	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97016	-4.11;-4.21	3.96	-6.75	0.01738	.	1.223900	0.06112	N	0.667248	D	0.86326	0.5906	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.10450	0.005	T	0.76547	-0.2919	10	0.41790	T	0.15	-17.0364	0.2908	0.00258	0.2448:0.2635:0.241:0.2506	.	310	Q96HD9	ACY3_HUMAN	T	310;189	ENSP00000255082:A310T;ENSP00000434270:A189T	ENSP00000255082:A310T	A	-	1	0	ACY3	67166803	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.134000	0.15932	-1.524000	0.01764	-0.310000	0.09108	GCG	ACY3	-	pirsf_Aspartoacylase	ENSG00000132744		0.587	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY3	HGNC	protein_coding	OTTHUMT00000394002.1	18	0.00	0	C	NM_080658		67410227	67410227	-1	no_errors	ENST00000255082	ensembl	human	known	69_37n	missense	11	47.62	10	SNP	0.000	T
ADAM21	8747	genome.wustl.edu	37	14	70925298	70925298	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:70925298G>T	ENST00000603540.1	+	2	1340	c.1082G>T	c.(1081-1083)aGa>aTa	p.R361I	ADAM21_ENST00000267499.3_Missense_Mutation_p.R361I|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	361	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTGGGGAAAGAGGTTGCATC	0.428																																						dbGAP											0													43.0	37.0	39.0					14																	70925298		2135	4244	6379	-	-	-	SO:0001583	missense	0			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1082G>T	14.37:g.70925298G>T	ENSP00000474385:p.Arg361Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R361I	ENST00000603540.1	37	c.1082	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	6.159	0.397555	0.11638	.	.	ENSG00000139985	ENST00000267499	T	0.10573	2.86	4.36	-6.57	0.01842	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	3.194860	0.00953	N	0.002982	T	0.08582	0.0213	N	0.19112	0.55	0.09310	N	1	B	0.26744	0.158	B	0.39299	0.296	T	0.32561	-0.9902	10	0.41790	T	0.15	.	2.6864	0.05108	0.4955:0.2033:0.1995:0.1017	.	361	Q9UKJ8	ADA21_HUMAN	I	361	ENSP00000267499:R361I	ENSP00000267499:R361I	R	+	2	0	ADAM21	69995051	0.000000	0.05858	0.000000	0.03702	0.676000	0.39594	-0.833000	0.04396	-1.520000	0.01773	-1.113000	0.02065	AGA	ADAM21	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000139985		0.428	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	266	0.00	0	G			70925298	70925298	+1	no_errors	ENST00000267499	ensembl	human	known	69_37n	missense	119	38.66	75	SNP	0.000	T
ADAMTS5	11096	genome.wustl.edu	37	21	28315838	28315838	+	Missense_Mutation	SNP	A	A	T	rs369119651		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:28315838A>T	ENST00000284987.5	-	3	1387	c.1266T>A	c.(1264-1266)gaT>gaA	p.D422E		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	422	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGAATTTGGAATCGTCATGGG	0.418																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	dbGAP											0													79.0	74.0	76.0					21																	28315838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1266T>A	21.37:g.28315838A>T	ENSP00000284987:p.Asp422Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.D422E	ENST00000284987.5	37	c.1266	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967222	0.74131	.	.	ENSG00000154736	ENST00000284987	D	0.86956	-2.19	5.61	2.0	0.26442	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	L	0.54863	1.705	0.47245	D	0.999367	P	0.52577	0.954	P	0.47864	0.559	T	0.81690	-0.0818	10	0.52906	T	0.07	.	8.9494	0.35779	0.6218:0.0:0.3782:0.0	.	422	Q9UNA0	ATS5_HUMAN	E	422	ENSP00000284987:D422E	ENSP00000284987:D422E	D	-	3	2	ADAMTS5	27237709	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	2.378000	0.44309	0.208000	0.20626	0.529000	0.55759	GAT	ADAMTS5	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000154736		0.418	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	79	0.00	0	A			28315838	28315838	-1	no_errors	ENST00000284987	ensembl	human	known	69_37n	missense	47	32.86	23	SNP	1.000	T
ADAMTSL1	92949	genome.wustl.edu	37	9	18888006	18888006	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:18888006G>T	ENST00000380548.4	+	24	4766	c.4427G>T	c.(4426-4428)gGg>gTg	p.G1476V	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G177V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1476	Ig-like C2-type 4.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AATGAGGCAGGGGTGCTCATG	0.493																																						dbGAP											0													75.0	70.0	72.0					9																	18888006		1935	4146	6081	-	-	-	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4427G>T	9.37:g.18888006G>T	ENSP00000369921:p.Gly1476Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G177V	ENST00000380548.4	37	c.530	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962253	0.74016	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541;ENST00000380538	D;D;D	0.81739	-1.53;-1.53;-1.53	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.230823	0.38436	N	0.001697	D	0.92522	0.7625	H	0.98295	4.195	0.80722	D	1	D;D	0.63880	0.993;0.993	P;D	0.64410	0.857;0.925	D	0.92612	0.6100	10	0.27082	T	0.32	.	13.0344	0.58862	0.0737:0.0:0.9263:0.0	.	177;1476	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	V	1476;177;180;180;78	ENSP00000369921:G1476V;ENSP00000369918:G177V;ENSP00000369911:G78V	ENSP00000325584:G180V	G	+	2	0	ADAMTSL1	18878006	1.000000	0.71417	0.952000	0.39060	0.860000	0.49131	5.005000	0.63972	2.735000	0.93741	0.655000	0.94253	GGG	ADAMTSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000178031		0.493	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	86	0.00	0	G			18888006	18888006	+1	no_errors	ENST00000388710	ensembl	human	known	69_37n	missense	44	45.68	37	SNP	0.985	T
ADAMTSL3	57188	genome.wustl.edu	37	15	84639309	84639309	+	Missense_Mutation	SNP	G	G	A	rs2277848	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:84639309G>A	ENST00000286744.5	+	20	2788	c.2564G>A	c.(2563-2565)cGc>cAc	p.R855H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R855H|ADAMTSL3_ENST00000567716.1_3'UTR	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	855	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.		R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> H (in dbSNP:rs2277848).			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R855H(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAAGGTCGGCGCATCCCCCTC	0.527													G|||	12	0.00239617	0.0	0.0	5008	,	,		19477	0.0119		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	central_nervous_system(1)											187.0	164.0	172.0					15																	84639309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2564G>A	15.37:g.84639309G>A	ENSP00000286744:p.Arg855His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.R855H	ENST00000286744.5	37	c.2564	CCDS10326.1	15	8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	G	6.295	0.422601	0.11928	.	.	ENSG00000156218	ENST00000286744	T	0.52983	0.64	4.39	2.33	0.28932	.	0.534882	0.15912	N	0.238571	T	0.22003	0.0530	L	0.35593	1.075	0.09310	N	1	B;B	0.18863	0.012;0.031	B;B	0.15052	0.01;0.012	T	0.15694	-1.0428	10	0.15499	T	0.54	.	4.5086	0.11899	0.1399:0.0:0.4842:0.3759	rs2277848;rs52796380;rs2277848	855;855	P82987-2;P82987	.;ATL3_HUMAN	H	855	ENSP00000286744:R855H	ENSP00000286744:R855H	R	+	2	0	ADAMTSL3	82430313	0.880000	0.30214	0.205000	0.23548	0.210000	0.24377	1.814000	0.38972	0.480000	0.27534	-0.824000	0.03097	CGC	ADAMTSL3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156218		0.527	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	369	0.00	0	G	NM_207517		84639309	84639309	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	missense	201	42.45	149	SNP	0.001	A
ADAR	103	genome.wustl.edu	37	1	154561931	154561931	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:154561931G>A	ENST00000368474.4	-	9	2875	c.2676C>T	c.(2674-2676)cgC>cgT	p.R892R	ADAR_ENST00000292205.5_Silent_p.R935R|ADAR_ENST00000368471.3_Silent_p.R597R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	892	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.		R -> H (in AGS6). {ECO:0000269|PubMed:23001123}.		adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTTTCACACAGCGATTCCCTA	0.438																																						dbGAP											0													84.0	76.0	79.0					1																	154561931		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2676C>T	1.37:g.154561931G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Silent	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.R935	ENST00000368474.4	37	c.2805	CCDS1071.1	1																																																																																			ADAR	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000160710		0.438	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	101	0.00	0	G	NM_001111		154561931	154561931	-1	no_errors	ENST00000292205	ensembl	human	known	69_37n	silent	114	27.39	43	SNP	1.000	A
ADARB2	105	genome.wustl.edu	37	10	1229068	1229069	+	3'UTR	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:1229068_1229069insC	ENST00000381312.1	-	0	2609_2610				ADARB2_ENST00000381310.3_3'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCGCCACGTCGCCCCCCAGACA	0.594																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.*65->G	10.37:g.1229074_1229074dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPJ5|Q5VUT6|Q5VW42	RNA	INS	-	NULL	ENST00000381312.1	37	NULL	CCDS7058.1	10																																																																																			ADARB2	-	-	ENSG00000185736		0.594	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	14	0.00	0	-	NM_018702		1229068	1229069	-1	no_errors	ENST00000474762	ensembl	human	known	69_37n	rna	6	53.85	7	INS	0.014:0.021	C
ADCY2	108	genome.wustl.edu	37	5	7817095	7817095	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:7817095T>C	ENST00000338316.4	+	23	3087		c.e23+2		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGCGAGTGGGTACGTTCTGCA	0.463											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													180.0	132.0	149.0					5																	7817095		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2998+2T>C	5.37:g.7817095T>C		Somatic	644	WXS	Illumina GAIIx	Phase_IV	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Splice_Site	SNP	-	e23+2	ENST00000338316.4	37	c.2998+2	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305395	0.60305	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.787	0.78315	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCY2	7870095	1.000000	0.71417	0.981000	0.43875	0.449000	0.32228	7.753000	0.85153	2.143000	0.66587	0.459000	0.35465	.	ADCY2	-	-	ENSG00000078295		0.463	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	57	0.00	0	T	NM_020546	Intron	7817095	7817095	+1	no_errors	ENST00000338316	ensembl	human	known	69_37n	splice_site	34	32.73	18	SNP	1.000	C
ADD1	118	genome.wustl.edu	37	4	2930127	2930127	+	Silent	SNP	C	C	T	rs200759802		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:2930127C>T	ENST00000398129.1	+	14	2111	c.2091C>T	c.(2089-2091)gtC>gtT	p.V697V	ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Silent_p.V697V|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000264758.7_Silent_p.V728V|ADD1_ENST00000513328.2_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	697					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCAGCTGTCGAGGAGGGGG	0.662																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	dbGAP											0													33.0	45.0	41.0					4																	2930127		2190	4290	6480	-	-	-	SO:0001819	synonymous_variant	0			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2091C>T	4.37:g.2930127C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.S434L	ENST00000398129.1	37	c.1301	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	C	1.530	-0.544486	0.04024	.	.	ENSG00000087274	ENST00000514940	.	.	.	5.3	-1.61	0.08399	.	.	.	.	.	T	0.41834	0.1176	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22661	-1.0210	4	.	.	.	-10.4845	2.9192	0.05764	0.1099:0.3611:0.1081:0.4209	.	.	.	.	L	434	.	.	S	+	2	0	ADD1	2899925	0.000000	0.05858	0.019000	0.16419	0.242000	0.25591	-2.918000	0.00695	-0.828000	0.04273	-0.169000	0.13324	TCG	ADD1	-	NULL	ENSG00000087274		0.662	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	36	0.00	0	C	NM_014189		2930127	2930127	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000514940	ensembl	human	known	69_37n	missense	27	41.67	20	SNP	0.224	T
ADNP	23394	genome.wustl.edu	37	20	49508633	49508633	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:49508633T>C	ENST00000396029.3	-	5	3185	c.2618A>G	c.(2617-2619)gAc>gGc	p.D873G	ADNP_ENST00000349014.3_Missense_Mutation_p.D873G|ADNP_ENST00000396032.3_Missense_Mutation_p.D873G|ADNP_ENST00000371602.4_Missense_Mutation_p.D873G	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	873					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TGAGGAACTGTCATCTTCCTT	0.388																																						dbGAP											0													125.0	129.0	127.0					20																	49508633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2618A>G	20.37:g.49508633T>C	ENSP00000379346:p.Asp873Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.D873G	ENST00000396029.3	37	c.2618	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	T	7.378	0.628221	0.14257	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000004	T	0.39332	0.1074	N	0.14661	0.345	0.38256	D	0.94173	P	0.34522	0.455	B	0.34093	0.175	T	0.49360	-0.8948	9	0.66056	D	0.02	-15.7926	16.2792	0.82664	0.0:0.0:0.0:1.0	.	873	Q9H2P0	ADNP_HUMAN	G	873	.	ENSP00000342905:D873G	D	-	2	0	ADNP	48942040	1.000000	0.71417	0.983000	0.44433	0.248000	0.25809	3.468000	0.53086	2.243000	0.73865	0.533000	0.62120	GAC	ADNP	-	NULL	ENSG00000101126		0.388	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	279	0.00	0	T	NM_181442		49508633	49508633	-1	no_errors	ENST00000349014	ensembl	human	known	69_37n	missense	119	48.03	110	SNP	1.000	C
AFAP1L2	84632	genome.wustl.edu	37	10	116070169	116070169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:116070169C>A	ENST00000304129.4	-	8	855	c.826G>T	c.(826-828)Gga>Tga	p.G276*	AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.G329*|AFAP1L2_ENST00000369271.3_Nonsense_Mutation_p.G276*			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	276					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TCAGATGCTCCTTCGGAAGGC	0.592																																						dbGAP											0													101.0	91.0	95.0					10																	116070169		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.826G>T	10.37:g.116070169C>A	ENSP00000303042:p.Gly276*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G329*	ENST00000304129.4	37	c.985	CCDS31286.1	10	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978916	0.34942	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	.	.	.	5.56	4.66	0.58398	.	0.521403	0.21531	N	0.073060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-11.0666	12.5791	0.56380	0.0:0.9238:0.0:0.0762	.	.	.	.	X	276;276;303;294;329;294	.	ENSP00000303042:G276X	G	-	1	0	AFAP1L2	116060159	0.983000	0.35010	0.244000	0.24202	0.113000	0.19764	2.582000	0.46085	1.359000	0.45940	0.655000	0.94253	GGA	AFAP1L2	-	NULL	ENSG00000169129		0.592	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	43	0.00	0	C	NM_032550		116070169	116070169	-1	no_errors	ENST00000545353	ensembl	human	known	69_37n	nonsense	14	48.15	13	SNP	0.989	A
AFF1	4299	genome.wustl.edu	37	4	87968729	87968729	+	Missense_Mutation	SNP	C	C	T	rs374948523		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:87968729C>T	ENST00000307808.6	+	3	1441	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	AFF1_ENST00000395146.4_Missense_Mutation_p.P348S|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	341					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACTGAAGATGCCTTCTCAGTC	0.478																																						dbGAP											0													69.0	75.0	73.0					4																	87968729		2202	4297	6499	-	-	-	SO:0001583	missense	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1021C>T	4.37:g.87968729C>T	ENSP00000305689:p.Pro341Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.P348S	ENST00000307808.6	37	c.1042	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092489	0.55968	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000541943;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	6.08	6.08	0.98989	.	0.145173	0.48767	N	0.000170	D	0.86961	0.6059	M	0.72353	2.195	0.80722	D	1	D;P;P;D;P;D	0.89917	1.0;0.63;0.825;0.986;0.76;1.0	D;B;B;D;B;D	0.91635	0.999;0.389;0.389;0.977;0.357;0.999	D	0.85239	0.1037	10	0.39692	T	0.17	-17.4935	15.7586	0.78058	0.0:0.9334:0.0:0.0666	.	348;348;282;341;341;348	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	S	348;348;2;348;348;341	ENSP00000378578:P348S;ENSP00000427593:P348S;ENSP00000424483:P348S;ENSP00000305689:P341S	ENSP00000305689:P341S	P	+	1	0	AFF1	88187753	1.000000	0.71417	0.998000	0.56505	0.641000	0.38312	3.138000	0.50570	2.894000	0.99253	0.655000	0.94253	CCT	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.478	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	426	0.00	0	C	NM_005935		87968729	87968729	+1	no_errors	ENST00000395146	ensembl	human	known	69_37n	missense	213	44.09	168	SNP	0.996	T
AGT	183	genome.wustl.edu	37	1	230839055	230839055	+	Frame_Shift_Del	DEL	A	A	-	rs387906578		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:230839055delA	ENST00000366667.4	-	5	1504	c.1290delT	c.(1288-1290)tttfs	p.F430fs		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	430					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCAAGCTCAAAAAAAATGC	0.562																																						dbGAP											0			GRCh37	CD065661	AGT	D							96.0	93.0	94.0					1																	230839055		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1290delT	1.37:g.230839055delA	ENSP00000355627:p.Phe430fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16358|Q16359|Q96F91	Frame_Shift_Del	DEL	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Angiotensngn	p.F430fs	ENST00000366667.4	37	c.1290	CCDS1585.1	1																																																																																			AGT	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000135744		0.562	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	100	0.00	0	A	NM_000029		230839055	230839055	-1	no_errors	ENST00000366667	ensembl	human	known	69_37n	frame_shift_del	122	28.32	49	DEL	0.354	-
AGTR2	186	genome.wustl.edu	37	X	115304211	115304211	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:115304211C>G	ENST00000371906.4	+	3	868	c.678C>G	c.(676-678)ttC>ttG	p.F226L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	226					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	CTTTAATATTCATAGCAACAT	0.398																																						dbGAP											0													106.0	93.0	98.0					X																	115304211		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.678C>G	X.37:g.115304211C>G	ENSP00000360973:p.Phe226Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor,prints_Chemokine_rcpt	p.F226L	ENST00000371906.4	37	c.678	CCDS14569.1	X	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930144	0.34096	.	.	ENSG00000180772	ENST00000371906	T	0.31769	1.48	4.78	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.194139	0.42053	D	0.000761	T	0.16214	0.0390	N	0.08118	0	0.37962	D	0.933	B	0.25904	0.137	B	0.34346	0.18	T	0.09509	-1.0671	10	0.66056	D	0.02	-7.7196	4.4045	0.11402	0.0:0.6103:0.1823:0.2074	.	226	P50052	AGTR2_HUMAN	L	226	ENSP00000360973:F226L	ENSP00000360973:F226L	F	+	3	2	AGTR2	115218239	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.839000	0.27586	0.460000	0.27045	0.506000	0.49869	TTC	AGTR2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000180772		0.398	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTR2	HGNC	protein_coding	OTTHUMT00000057984.1	391	0.26	1	C	NM_000686		115304211	115304211	+1	no_errors	ENST00000371906	ensembl	human	known	69_37n	missense	207	38.94	132	SNP	0.999	G
AGTRAP	57085	genome.wustl.edu	37	1	11805938	11805938	+	Intron	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:11805938G>T	ENST00000314340.5	+	2	116				AGTRAP_ENST00000376627.2_Intron|AGTRAP_ENST00000400895.2_Intron|AGTRAP_ENST00000376629.4_Intron|AGTRAP_ENST00000376637.3_Intron|AGTRAP_ENST00000452018.2_Intron|AGTRAP_ENST00000491346.1_Intron|AGTRAP_ENST00000510878.1_Intron	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein						regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGCGGTCTCAGGGTCTGTGTC	0.557																																						dbGAP											0													182.0	168.0	172.0					1																	11805938		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.62+44G>T	1.37:g.11805938G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	RNA	SNP	-	NULL	ENST00000314340.5	37	NULL	CCDS136.1	1																																																																																			AGTRAP	-	-	ENSG00000177674		0.557	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTRAP	HGNC	protein_coding	OTTHUMT00000006335.1	89	0.00	0	G	NM_020350		11805938	11805938	+1	no_errors	ENST00000494437	ensembl	human	known	69_37n	rna	52	45.83	44	SNP	0.001	T
AIDA	64853	genome.wustl.edu	37	1	222843145	222843145	+	3'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:222843145C>T	ENST00000340020.6	-	0	1217				AIDA_ENST00000355727.2_3'UTR|AIDA_ENST00000541237.1_3'UTR|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated						dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TTGCTTCCTGCCTGTTGAAGG	0.478																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.*90G>A	1.37:g.222843145C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	RNA	SNP	-	NULL	ENST00000340020.6	37	NULL	CCDS1533.1	1																																																																																			AIDA	-	-	ENSG00000186063		0.478	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AIDA	HGNC	protein_coding	OTTHUMT00000091818.1	25	0.00	0	C	NM_022831		222843145	222843145	-1	no_errors	ENST00000474863	ensembl	human	known	69_37n	rna	13	45.83	11	SNP	0.871	T
AHCTF1	25909	genome.wustl.edu	37	1	247024358	247024358	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:247024358C>T	ENST00000391829.2	-	29	4098	c.3975G>A	c.(3973-3975)ccG>ccA	p.P1325P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.P1334P|AHCTF1_ENST00000366508.1_Silent_p.P1360P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1325	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTCCGGTGACGGTGCATCCT	0.443																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													110.0	95.0	100.0					1																	247024358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3975G>A	1.37:g.247024358C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.P1334	ENST00000391829.2	37	c.4002		1																																																																																			AHCTF1	-	NULL	ENSG00000153207		0.443	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		76	0.00	0	C	NM_015446		247024358	247024358	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	silent	98	23.44	30	SNP	0.045	T
AIM1	202	genome.wustl.edu	37	6	106967919	106967919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:106967919G>T	ENST00000369066.3	+	2	2099	c.1612G>T	c.(1612-1614)Gga>Tga	p.G538*		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGAAGCTGTGGGAAGTGAGTG	0.542																																						dbGAP											0													65.0	67.0	66.0					6																	106967919		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1612G>T	6.37:g.106967919G>T	ENSP00000358062:p.Gly538*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G538*	ENST00000369066.3	37	c.1612	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.374223	0.99151	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	.	.	.	6.17	4.38	0.52667	.	0.753997	0.11400	N	0.567958	.	.	.	.	.	.	0.23496	N	0.997555	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.6972	0.40165	0.1624:0.0:0.8376:0.0	.	.	.	.	X	946;538	.	ENSP00000285105:G946X	G	+	1	0	AIM1	107074612	0.191000	0.23288	0.100000	0.21137	0.072000	0.16883	1.819000	0.39022	1.620000	0.50308	0.655000	0.94253	GGA	AIM1	-	NULL	ENSG00000112297		0.542	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	75	0.00	0	G			106967919	106967919	+1	no_errors	ENST00000369066	ensembl	human	known	69_37n	nonsense	44	44.30	35	SNP	0.023	T
AIM2	9447	genome.wustl.edu	37	1	159033297	159033297	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:159033297A>G	ENST00000368130.4	-	5	1272	c.984T>C	c.(982-984)tcT>tcC	p.S328S	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	328	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TATGAACTCCAGATGTCAGCT	0.423																																						dbGAP											0													220.0	206.0	211.0					1																	159033297		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.984T>C	1.37:g.159033297A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,superfamily_NA-bd_OB-fold-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.S328	ENST00000368130.4	37	c.984	CCDS1181.1	1																																																																																			AIM2	-	superfamily_NA-bd_OB-fold-like,pfscan_HIN200/IF120x	ENSG00000163568		0.423	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	HGNC	protein_coding	OTTHUMT00000090341.1	370	0.27	1	A	NM_004833		159033297	159033297	-1	no_errors	ENST00000368130	ensembl	human	known	69_37n	silent	263	29.07	109	SNP	0.014	G
AK8	158067	genome.wustl.edu	37	9	135601125	135601125	+	Missense_Mutation	SNP	C	C	T	rs148764112		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:135601125C>T	ENST00000298545.3	-	13	1911	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	464	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCGATGTATTCGAAGACTGTG	0.537																																						dbGAP											0													78.0	60.0	66.0					9																	135601125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1390G>A	9.37:g.135601125C>T	ENSP00000298545:p.Glu464Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.E464K	ENST00000298545.3	37	c.1390	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654168	0.47362	.	.	ENSG00000165695	ENST00000298545	T	0.69175	-0.38	5.08	4.18	0.49190	.	0.058726	0.64402	D	0.000004	T	0.73513	0.3596	M	0.73962	2.25	0.46279	D	0.998969	D	0.60575	0.988	P	0.55112	0.769	T	0.73170	-0.4067	10	0.41790	T	0.15	-22.6123	9.3869	0.38349	0.0:0.9002:0.0:0.0998	.	464	Q96MA6	KAD8_HUMAN	K	464	ENSP00000298545:E464K	ENSP00000298545:E464K	E	-	1	0	AK8	134590946	1.000000	0.71417	0.809000	0.32408	0.019000	0.09904	5.174000	0.65015	1.124000	0.41980	0.514000	0.50259	GAA	AK8	-	NULL	ENSG00000165695		0.537	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	23	0.00	0	C	NM_152572		135601125	135601125	-1	no_errors	ENST00000298545	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	0.996	T
AKAP6	9472	genome.wustl.edu	37	14	33201741	33201741	+	Missense_Mutation	SNP	G	G	A	rs141386857		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:33201741G>A	ENST00000280979.4	+	10	3252	c.3082G>A	c.(3082-3084)Gtt>Att	p.V1028I	AKAP6_ENST00000557272.1_Missense_Mutation_p.V1028I|AKAP6_ENST00000557354.1_Missense_Mutation_p.V1028I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1028					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GAAAGGTGGCGTTTTACTACC	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17863	0.0		0.0	False		,,,				2504	0.0				Melanoma(49;821 1200 7288 13647 42351)	dbGAP											0													134.0	135.0	135.0					14																	33201741		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3082G>A	14.37:g.33201741G>A	ENSP00000280979:p.Val1028Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.V1028I	ENST00000280979.4	37	c.3082	CCDS9644.1	14	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.55	1.971222	0.34754	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.17691	3.52;2.26;2.26	5.5	3.65	0.41850	.	0.447504	0.20666	N	0.087935	T	0.07279	0.0184	N	0.08118	0	0.23386	N	0.997787	B;B	0.27559	0.004;0.181	B;B	0.11329	0.002;0.006	T	0.27606	-1.0069	10	0.39692	T	0.17	-5.9591	5.9291	0.19128	0.0732:0.141:0.6482:0.1375	.	1028;1028	A7E242;Q13023	.;AKAP6_HUMAN	I	1028	ENSP00000280979:V1028I;ENSP00000450531:V1028I;ENSP00000451247:V1028I	ENSP00000280979:V1028I	V	+	1	0	AKAP6	32271492	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.816000	0.48026	0.655000	0.30866	-0.229000	0.12294	GTT	AKAP6	-	smart_Spectrin/alpha-actinin	ENSG00000151320		0.363	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	248	0.00	0	G	NM_004274		33201741	33201741	+1	no_errors	ENST00000280979	ensembl	human	known	69_37n	missense	113	39.89	75	SNP	1.000	A
AKAP8	10270	genome.wustl.edu	37	19	15473031	15473031	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:15473031G>A	ENST00000269701.2	-	10	1252	c.1192C>T	c.(1192-1194)Cgt>Tgt	p.R398C		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	398					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCAAAGCTACGGAACTTGCAT	0.502																																					GBM(190;1671 2163 3274 27186 30476)	dbGAP											0													94.0	92.0	93.0					19																	15473031		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1192C>T	19.37:g.15473031G>A	ENSP00000269701:p.Arg398Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AKAP95	p.R398C	ENST00000269701.2	37	c.1192	CCDS12329.1	19	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821763	0.71028	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.53423	0.62	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000015	T	0.64627	0.2615	L	0.52011	1.625	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.66654	-0.5869	10	0.87932	D	0	-20.5001	17.991	0.89169	0.0:0.0:1.0:0.0	.	398;398	Q8NE02;O43823	.;AKAP8_HUMAN	C	398;147	ENSP00000269701:R398C	ENSP00000269701:R398C	R	-	1	0	AKAP8	15334031	1.000000	0.71417	0.992000	0.48379	0.394000	0.30568	8.857000	0.92250	2.545000	0.85829	0.462000	0.41574	CGT	AKAP8	-	pfam_AKAP95	ENSG00000105127		0.502	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8	HGNC	protein_coding	OTTHUMT00000461293.3	44	0.00	0	G	NM_005858		15473031	15473031	-1	no_errors	ENST00000269701	ensembl	human	known	69_37n	missense	26	40.91	18	SNP	1.000	A
AKAP9	10142	genome.wustl.edu	37	7	91729156	91729156	+	Nonsense_Mutation	SNP	T	T	G	rs201133805		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:91729156T>G	ENST00000359028.2	+	44	11106	c.10881T>G	c.(10879-10881)taT>taG	p.Y3627*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Y3623*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Y3573*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3627					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAGGTGGTATCGACAGACAG	0.408			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													158.0	137.0	144.0					7																	91729156		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10881T>G	7.37:g.91729156T>G	ENSP00000351922:p.Tyr3627*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.Y3627*	ENST00000359028.2	37	c.10881		7	.	.	.	.	.	.	.	.	.	.	T	52	19.602513	0.99921	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.08	0.723	0.18231	.	0.494073	0.15196	N	0.275299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.601	0.45367	0.0:0.4435:0.0:0.5565	.	.	.	.	X	3623;3627;3573;3627;1469	.	ENSP00000348573:Y3623X	Y	+	3	2	AKAP9	91567092	0.972000	0.33761	0.942000	0.38095	0.960000	0.62799	0.099000	0.15210	-0.048000	0.13401	0.482000	0.46254	TAT	AKAP9	-	superfamily_YbaB-like	ENSG00000127914		0.408	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		192	0.00	0	T	NM_005751		91729156	91729156	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	nonsense	124	38.61	78	SNP	0.997	G
ALDH18A1	5832	genome.wustl.edu	37	10	97366659	97366659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:97366659C>A	ENST00000371224.2	-	18	2385	c.2248G>T	c.(2248-2250)Gga>Tga	p.G750*	ALDH18A1_ENST00000371221.3_Nonsense_Mutation_p.G748*	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	750	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCTACTGGTCCCCGGGCGTGG	0.488																																						dbGAP											0													152.0	152.0	152.0					10																	97366659		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.2248G>T	10.37:g.97366659C>A	ENSP00000360268:p.Gly750*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Nonsense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.G750*	ENST00000371224.2	37	c.2248	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.823036	0.98510	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	.	.	.	5.37	5.37	0.77165	.	0.045660	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.735	16.6099	0.84880	0.0:1.0:0.0:0.0	.	.	.	.	X	750;748	.	ENSP00000360265:G748X	G	-	1	0	ALDH18A1	97356649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.376000	0.79658	2.535000	0.85469	0.561000	0.74099	GGA	ALDH18A1	-	superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	ENSG00000059573		0.488	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	255	0.00	0	C	NM_002860		97366659	97366659	-1	no_errors	ENST00000371224	ensembl	human	known	69_37n	nonsense	170	40.56	116	SNP	1.000	A
ALG10	84920	genome.wustl.edu	37	12	34179356	34179356	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:34179356A>G	ENST00000266483.2	+	3	1247	c.928A>G	c.(928-930)Agc>Ggc	p.S310G	RP11-847H18.2_ENST00000501954.2_RNA|AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	310					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCTGTCTCCTAGCAAAATTAA	0.353																																						dbGAP											0													120.0	130.0	127.0					12																	34179356		2203	4295	6498	-	-	-	SO:0001583	missense	0			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.928A>G	12.37:g.34179356A>G	ENSP00000266483:p.Ser310Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	p.S310G	ENST00000266483.2	37	c.928	CCDS41769.1	12	.	.	.	.	.	.	.	.	.	.	A	0.399	-0.919409	0.02396	.	.	ENSG00000139133	ENST00000266483	T	0.55052	0.54	3.37	-2.22	0.06952	.	1.097370	0.06614	N	0.756108	T	0.31451	0.0797	N	0.20845	0.615	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16453	-1.0402	10	0.18276	T	0.48	.	5.5618	0.17148	0.5061:0.1456:0.3483:0.0	.	310	Q5BKT4	AG10A_HUMAN	G	310	ENSP00000266483:S310G	ENSP00000266483:S310G	S	+	1	0	ALG10	34070623	0.000000	0.05858	0.001000	0.08648	0.488000	0.33401	-0.240000	0.08952	-0.451000	0.07097	-1.194000	0.01681	AGC	ALG10	-	pfam_Glycosyltransferase_ALG10,pirsf_Alpha1_2_glucosyltferase_Alg10	ENSG00000139133		0.353	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10	HGNC	protein_coding	OTTHUMT00000403309.1	406	0.00	0	A	NM_032834		34179356	34179356	+1	no_errors	ENST00000266483	ensembl	human	known	69_37n	missense	223	38.06	137	SNP	0.000	G
ALG6	29929	genome.wustl.edu	37	1	63836751	63836751	+	Intron	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:63836751delA	ENST00000371108.4	+	2	387				ALG6_ENST00000263440.4_Intron	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTACTGGTTAAAAAAAAAAC	0.338																																						dbGAP											0													80.0	84.0	83.0					1																	63836751		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.82+21A>-	1.37:g.63836751delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMU2|Q5SXR9|Q9H3I0	RNA	DEL	-	NULL	ENST00000371108.4	37	NULL	CCDS30735.1	1																																																																																			ALG6	-	-	ENSG00000088035		0.338	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	66	0.00	0	A	NM_013339		63836751	63836751	+1	no_errors	ENST00000487136	ensembl	human	known	69_37n	rna	29	37.50	18	DEL	0.000	-
AMBRA1	55626	genome.wustl.edu	37	11	46419038	46419038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:46419038delC	ENST00000458649.2	-	18	4277	c.3859delG	c.(3859-3861)gacfs	p.D1287fs	AMBRA1_ENST00000534300.1_Frame_Shift_Del_p.D1227fs|AMBRA1_ENST00000528950.1_Frame_Shift_Del_p.D1258fs|AMBRA1_ENST00000298834.3_Frame_Shift_Del_p.D1227fs|AMBRA1_ENST00000533727.1_Frame_Shift_Del_p.D1168fs|AMBRA1_ENST00000314845.3_Frame_Shift_Del_p.D1197fs|AMBRA1_ENST00000426438.1_Frame_Shift_Del_p.D1258fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1287					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCTGCAGCGTCCCCCCTGCTG	0.602																																						dbGAP											0													99.0	92.0	94.0					11																	46419038		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3859delG	11.37:g.46419038delC	ENSP00000415327:p.Asp1287fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1287fs	ENST00000458649.2	37	c.3859		11																																																																																			AMBRA1	-	NULL	ENSG00000110497		0.602	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	59	0.00	0	C	NM_017749		46419038	46419038	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	frame_shift_del	38	35.59	21	DEL	0.977	-
AMBRA1	55626	genome.wustl.edu	37	11	46455180	46455180	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:46455180T>C	ENST00000458649.2	-	14	3240		c.e14-2		AMBRA1_ENST00000534300.1_Splice_Site|AMBRA1_ENST00000528950.1_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000314845.3_Splice_Site|AMBRA1_ENST00000426438.1_Splice_Site			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATTGGGACCTGAGGGCCAAC	0.478																																						dbGAP											0													55.0	47.0	49.0					11																	46455180		2201	4299	6500	-	-	-	SO:0001630	splice_region_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2822-2A>G	11.37:g.46455180T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Splice_Site	SNP	-	e13-2	ENST00000458649.2	37	c.2822-2		11	.	.	.	.	.	.	.	.	.	.	T	28.2	4.901885	0.92035	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3317	0.83023	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMBRA1	46411756	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.784000	0.85713	2.264000	0.75181	0.533000	0.62120	.	AMBRA1	-	-	ENSG00000110497		0.478	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	62	0.00	0	T	NM_017749	Intron	46455180	46455180	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	splice_site	24	42.86	18	SNP	1.000	C
AMDHD2	51005	genome.wustl.edu	37	16	2578147	2578147	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:2578147C>T	ENST00000293971.6	+	6	809	c.715C>T	c.(715-717)Cct>Tct	p.P239S	AMDHD2_ENST00000302956.4_Missense_Mutation_p.P239S|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.P239S	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	239					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CGCCATGCTGCCTGTGAGTGC	0.687																																						dbGAP											0													59.0	61.0	60.0					16																	2578147		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.715C>T	16.37:g.2578147C>T	ENSP00000293971:p.Pro239Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL77|Q8WV54	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite	p.P239S	ENST00000293971.6	37	c.715		16	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762724	0.49574	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;D	0.99938	-8.34;-8.34;-8.34	5.43	5.43	0.79202	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.097389	0.64402	D	0.000001	D	0.99809	0.9917	L	0.49126	1.545	0.80722	D	1	P;B;P	0.50710	0.938;0.149;0.481	P;B;B	0.51266	0.664;0.277;0.396	D	0.96083	0.9055	10	0.37606	T	0.19	-4.3639	12.2478	0.54581	0.0:0.9179:0.0:0.0821	.	239;239;239	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	S	239	ENSP00000391596:P239S;ENSP00000307481:P239S;ENSP00000293971:P239S	ENSP00000293971:P239S	P	+	1	0	AMDHD2	2518148	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.717000	0.68446	2.547000	0.85894	0.655000	0.94253	CCT	AMDHD2	-	superfamily_Metal-dep_hydrolase_composite	ENSG00000162066		0.687	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	AMDHD2	HGNC	protein_coding	OTTHUMT00000435652.1	10	0.00	0	C	NM_015944		2578147	2578147	+1	no_errors	ENST00000413459	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	1.000	T
AMICA1	120425	genome.wustl.edu	37	11	118068730	118068731	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:118068730_118068731insA	ENST00000356289.5	-	8	1160_1161	c.987_988insT	c.(985-990)tttgaafs	p.E330fs	AMICA1_ENST00000526620.1_Frame_Shift_Ins_p.E291fs|AMICA1_ENST00000533261.1_Frame_Shift_Ins_p.E319fs|AMICA1_ENST00000292067.7_Frame_Shift_Ins_p.E320fs	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	330					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCACATCTTTCAAAATGGCAGG	0.45											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.988dupT	11.37:g.118068734_118068734dupA	ENSP00000348635:p.Glu330fs	Somatic	1485	WXS	Illumina GAIIx	Phase_IV	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Frame_Shift_Ins	INS	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E329fs	ENST00000356289.5	37	c.988_987	CCDS41723.1	11																																																																																			AMICA1	-	NULL	ENSG00000160593		0.450	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	HGNC	protein_coding	OTTHUMT00000392105.2	192	0.00	0	-	NM_153206		118068730	118068731	-1	no_errors	ENST00000356289	ensembl	human	known	69_37n	frame_shift_ins	120	34.07	62	INS	0.002:0.001	A
ANAPC4	29945	genome.wustl.edu	37	4	25391815	25391815	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:25391815A>G	ENST00000315368.3	+	8	715	c.573A>G	c.(571-573)ggA>ggG	p.G191G	ANAPC4_ENST00000510092.1_Silent_p.G191G	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				ATGCTTATGGAATGTTTAAAA	0.328																																						dbGAP											0													175.0	168.0	170.0					4																	25391815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.573A>G	4.37:g.25391815A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	p.G191	ENST00000315368.3	37	c.573	CCDS3434.1	4																																																																																			ANAPC4	-	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	ENSG00000053900		0.328	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC4	HGNC	protein_coding	OTTHUMT00000214986.1	153	0.00	0	A	NM_013367		25391815	25391815	+1	no_errors	ENST00000510092	ensembl	human	known	69_37n	silent	77	45.77	65	SNP	1.000	G
ANK2	287	genome.wustl.edu	37	4	114195739	114195739	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:114195739G>A	ENST00000357077.4	+	15	1670	c.1617G>A	c.(1615-1617)cgG>cgA	p.R539R	ANK2_ENST00000394537.3_Silent_p.R539R|ANK2_ENST00000506722.1_Silent_p.R518R|ANK2_ENST00000264366.6_Silent_p.R539R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	539					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTCTGCCCGGGAGGGCCAGG	0.522																																						dbGAP											0													93.0	91.0	91.0					4																	114195739		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1617G>A	4.37:g.114195739G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R539	ENST00000357077.4	37	c.1617	CCDS3702.1	4																																																																																			ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.522	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	83	0.00	0	G	NM_001148		114195739	114195739	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	silent	51	42.05	37	SNP	0.984	A
ANK2	287	genome.wustl.edu	37	4	114275342	114275342	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:114275342T>C	ENST00000357077.4	+	38	5621	c.5568T>C	c.(5566-5568)ccT>ccC	p.P1856P	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.P1823P|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1856	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACACTCACCTGTGTCACCCT	0.453																																						dbGAP											0													189.0	183.0	185.0					4																	114275342		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5568T>C	4.37:g.114275342T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.P1856	ENST00000357077.4	37	c.5568	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	613	0.16	1	T	NM_001148		114275342	114275342	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	silent	369	34.80	198	SNP	0.959	C
ANKHD1	54882	genome.wustl.edu	37	5	139889224	139889224	+	Silent	SNP	G	G	T	rs140954368	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:139889224G>T	ENST00000360839.2	+	21	3922	c.3768G>T	c.(3766-3768)acG>acT	p.T1256T	ANKHD1_ENST00000297183.6_Silent_p.T1256T|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.T1256T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1256						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAACAGACGGGTCTTACCC	0.393																																						dbGAP											0													80.0	76.0	77.0					5																	139889224		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3768G>T	5.37:g.139889224G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R482L	ENST00000360839.2	37	c.1445	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628252	0.28978	.	.	ENSG00000131503	ENST00000246149	.	.	.	5.49	3.04	0.35103	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46261	-0.9204	4	.	.	.	.	6.893	0.24241	0.0:0.1346:0.1275:0.7378	.	.	.	.	L	482	.	.	R	+	2	0	ANKHD1	139869408	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.201000	0.42734	0.438000	0.26450	-0.346000	0.07831	CGG	ANKHD1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000131503		0.393	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	145	0.00	0	G	NM_017747		139889224	139889224	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000246149	ensembl	human	novel	69_37n	missense	139	32.52	67	SNP	1.000	T
ANKMY1	51281	genome.wustl.edu	37	2	241463368	241463368	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:241463368G>A	ENST00000272972.3	-	7	1713	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	ANKMY1_ENST00000391987.1_Missense_Mutation_p.S500L|ANKMY1_ENST00000406958.1_Missense_Mutation_p.S261L|ANKMY1_ENST00000536462.1_Missense_Mutation_p.S312L|ANKMY1_ENST00000405002.1_Missense_Mutation_p.S270L|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000405523.3_Missense_Mutation_p.S359L|ANKMY1_ENST00000361678.4_Missense_Mutation_p.S359L|ANKMY1_ENST00000373318.2_Missense_Mutation_p.S359L|ANKMY1_ENST00000401804.1_Missense_Mutation_p.S589L|ANKMY1_ENST00000373320.4_Missense_Mutation_p.S270L|ANKMY1_ENST00000403283.1_Missense_Mutation_p.S438L	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	500							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CGGTGAGGGCGAGGCCATCTT	0.607																																						dbGAP											0													79.0	73.0	75.0					2																	241463368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1499C>T	2.37:g.241463368G>A	ENSP00000272972:p.Ser500Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.S500L	ENST00000272972.3	37	c.1499	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292151	0.40594	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T;T	0.56611	2.87;3.61;0.46;2.2;0.46;4.34;2.44;0.45;2.11;2.16;2.38	3.87	-5.83	0.02325	Ankyrin repeat-containing domain (1);	2.009950	0.02128	N	0.056181	T	0.26231	0.0640	N	0.24115	0.695	0.09310	N	1	B;B;B;B;D;B;B	0.58970	0.004;0.007;0.029;0.004;0.984;0.029;0.001	B;B;B;B;B;B;B	0.36567	0.0;0.001;0.002;0.001;0.228;0.002;0.0	T	0.42344	-0.9457	10	0.13853	T	0.58	.	2.5923	0.04846	0.2809:0.4349:0.1622:0.122	.	500;312;270;359;261;359;500	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;ANKY1_HUMAN	L	359;261;500;359;500;270;438;589;312;359;270	ENSP00000362415:S359L;ENSP00000384555:S261L;ENSP00000272972:S500L;ENSP00000355097:S359L;ENSP00000375847:S500L;ENSP00000362417:S270L;ENSP00000383968:S438L;ENSP00000385887:S589L;ENSP00000444707:S312L;ENSP00000385635:S359L;ENSP00000385145:S270L	ENSP00000272972:S500L	S	-	2	0	ANKMY1	241112041	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.146000	0.03191	-1.134000	0.02899	-0.339000	0.08088	TCG	ANKMY1	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000144504		0.607	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	19	0.00	0	G	NM_017844		241463368	241463368	-1	no_errors	ENST00000272972	ensembl	human	known	69_37n	missense	18	50.00	18	SNP	0.000	A
ANKRD11	29123	genome.wustl.edu	37	16	89351987	89351987	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:89351987G>A	ENST00000301030.4	-	9	1423	c.963C>T	c.(961-963)tcC>tcT	p.S321S	ANKRD11_ENST00000378330.2_Silent_p.S321S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	321					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S321S(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTCGAACTCGGAGTCCGTGT	0.567																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											148.0	129.0	135.0					16																	89351987		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.963C>T	16.37:g.89351987G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S321	ENST00000301030.4	37	c.963	CCDS32513.1	16																																																																																			ANKRD11	-	NULL	ENSG00000167522		0.567	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	83	0.00	0	G	NM_013275		89351987	89351987	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	silent	11	77.08	37	SNP	1.000	A
ANKRD12	23253	genome.wustl.edu	37	18	9258292	9258293	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:9258292_9258293delAA	ENST00000262126.4	+	9	5267_5268	c.5027_5028delAA	c.(5026-5028)gaafs	p.E1676fs	ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.E1653fs|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.E1653fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1676						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CCTGAAAGTGAAAAGTGTTTGC	0.361																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5027_5028delAA	18.37:g.9258294_9258295delAA	ENSP00000262126:p.Glu1676fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K1677fs	ENST00000262126.4	37	c.5027_5028	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.361	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	170	0.00	0	AA	NM_015208		9258292	9258293	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	frame_shift_del	22	70.27	52	DEL	0.983:0.990	-
ANKRD17	26057	genome.wustl.edu	37	4	74021428	74021428	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:74021428G>A	ENST00000358602.4	-	5	1036	c.920C>T	c.(919-921)gCt>gTt	p.A307V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A194V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A307V|ANKRD17_ENST00000514252.1_5'Flank	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	307					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTAGCAGCAGCCATTAAAGG	0.368																																						dbGAP											0													110.0	95.0	100.0					4																	74021428		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.920C>T	4.37:g.74021428G>A	ENSP00000351416:p.Ala307Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.A307V	ENST00000358602.4	37	c.920	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928505	0.92389	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.63744	-0.06;-0.06;-0.06	5.87	5.87	0.94306	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	T	0.61451	0.2348	N	0.05012	-0.13	0.47009	D	0.999281	D;D;D;D	0.67145	0.994;0.989;0.996;0.996	D;P;D;D	0.70227	0.92;0.882;0.968;0.952	T	0.60586	-0.7234	10	0.16420	T	0.52	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	307;307;307;194	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	307;307;307;194;307	ENSP00000351416:A307V;ENSP00000332265:A307V;ENSP00000427151:A194V	ENSP00000332265:A307V	A	-	2	0	ANKRD17	74240292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.771000	0.98977	2.785000	0.95823	0.655000	0.94253	GCT	ANKRD17	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132466		0.368	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	104	0.00	0	G	NM_032217		74021428	74021428	-1	no_errors	ENST00000358602	ensembl	human	known	69_37n	missense	59	39.80	39	SNP	1.000	A
ANKRD33	341405	genome.wustl.edu	37	12	52284860	52284860	+	Intron	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:52284860A>G	ENST00000340970.4	+	5	1035				ANKRD33_ENST00000301190.6_Missense_Mutation_p.Q377R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAGAGCCCTCAGGGCATATTG	0.642																																						dbGAP											0													52.0	47.0	48.0					12																	52284860		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.664+91A>G	12.37:g.52284860A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q377R	ENST00000340970.4	37	c.1130	CCDS44892.1	12	.	.	.	.	.	.	.	.	.	.	A	12.06	1.825907	0.32237	.	.	ENSG00000167612	ENST00000301190	T	0.20200	2.09	4.7	4.7	0.59300	.	1.118810	0.06540	N	0.743085	T	0.28234	0.0697	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.61070	0.883	T	0.16512	-1.0400	9	0.08179	T	0.78	-14.264	7.9012	0.29736	0.8164:0.0:0.0:0.1836	.	377	Q7Z3H0-2	.	R	377	ENSP00000301190:Q377R	ENSP00000301190:Q377R	Q	+	2	0	ANKRD33	50571127	0.007000	0.16637	1.000000	0.80357	0.860000	0.49131	0.112000	0.15479	2.102000	0.63906	0.459000	0.35465	CAG	ANKRD33	-	NULL	ENSG00000167612		0.642	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD33	HGNC	protein_coding	OTTHUMT00000404515.1	40	0.00	0	A	NM_182608		52284860	52284860	+1	no_errors	ENST00000301190	ensembl	human	novel	69_37n	missense	43	41.10	30	SNP	1.000	G
ANKRD35	148741	genome.wustl.edu	37	1	145562454	145562454	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:145562454C>T	ENST00000355594.4	+	10	2229	c.2142C>T	c.(2140-2142)ggC>ggT	p.G714G		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	714										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCTAGTGGGCGAGAGGAGTG	0.672																																					Melanoma(9;127 754 22988 51047)	dbGAP											0													23.0	27.0	26.0					1																	145562454		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2142C>T	1.37:g.145562454C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G714	ENST00000355594.4	37	c.2142	CCDS919.1	1																																																																																			ANKRD35	-	NULL	ENSG00000198483		0.672	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1	13	0.00	0	C	NM_144698		145562454	145562454	+1	no_errors	ENST00000355594	ensembl	human	known	69_37n	silent	24	36.84	14	SNP	0.124	T
SFT2D2	375035	genome.wustl.edu	37	1	168216165	168216165	+	3'UTR	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:168216165G>A	ENST00000271375.4	+	0	4942				ANKRD36BP1_ENST00000358576.4_RNA	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					ATTTTTTATTGTGTGTATTTC	0.333																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.*4387G>A	1.37:g.168216165G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T40I	ENST00000271375.4	37	c.119	CCDS1271.1	1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629645	0.28978	.	.	ENSG00000214262	ENST00000358576	.	.	.	0.827	0.827	0.18835	.	.	.	.	.	T	0.21427	0.0516	.	.	.	.	.	.	.	.	.	.	.	.	T	0.15752	-1.0426	4	0.56958	D	0.05	.	3.9652	0.09428	0.0:0.0:0.5865:0.4134	.	.	.	.	I	40	.	ENSP00000351384:T40I	T	-	2	0	ANKRD36BP1	166482789	0.987000	0.35691	0.580000	0.28601	0.195000	0.23768	0.034000	0.13776	0.729000	0.32403	0.205000	0.17691	ACA	ANKRD36BP1	-	NULL	ENSG00000214262		0.333	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36BP1	HGNC	protein_coding	OTTHUMT00000083827.2	52	0.00	0	G	NM_199344		168216165	168216165	-1	no_errors	ENST00000358576	ensembl	human	known	69_37n	missense	32	34.69	17	SNP	0.438	A
ANKRD53	79998	genome.wustl.edu	37	2	71211941	71211941	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:71211941G>A	ENST00000360589.3	+	6	1138	c.1104G>A	c.(1102-1104)acG>acA	p.T368T	ANKRD53_ENST00000441349.1_3'UTR|ANKRD53_ENST00000457410.1_Silent_p.T334T|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_3'UTR	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	368										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CACAGCCCACGGAGATGCCCA	0.622											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													43.0	50.0	48.0					2																	71211941		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.1104G>A	2.37:g.71211941G>A		Somatic	1128	WXS	Illumina GAIIx	Phase_IV	Q8IYP8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T368	ENST00000360589.3	37	c.1104	CCDS46321.1	2																																																																																			ANKRD53	-	NULL	ENSG00000144031		0.622	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD53	HGNC	protein_coding	OTTHUMT00000330275.2	10	0.00	0	G	NM_024933		71211941	71211941	+1	no_errors	ENST00000360589	ensembl	human	putative	69_37n	silent	11	42.11	8	SNP	0.000	A
ANKS1B	56899	genome.wustl.edu	37	12	99194847	99194847	+	Silent	SNP	G	G	C	rs373514998		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:99194847G>C	ENST00000547776.2	-	20	3122	c.3123C>G	c.(3121-3123)gcC>gcG	p.A1041A	ANKS1B_ENST00000332712.7_Silent_p.A231A|ANKS1B_ENST00000549558.2_Silent_p.A207A|ANKS1B_ENST00000329257.7_Silent_p.A1041A|ANKS1B_ENST00000341752.7_Silent_p.A47A|ANKS1B_ENST00000546960.1_Silent_p.A267A|ANKS1B_ENST00000547446.1_Silent_p.A176A|ANKS1B_ENST00000550693.2_Silent_p.A231A|ANKS1B_ENST00000546568.1_Silent_p.A207A|ANKS1B_ENST00000549493.2_Silent_p.A291A|ANKS1B_ENST00000549025.2_Silent_p.A139A|ANKS1B_ENST00000333732.7_Silent_p.A71A|ANKS1B_ENST00000547010.1_Silent_p.A557A	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1041						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCGGGGTAGAGGCTGTGGCTT	0.458																																						dbGAP											0													72.0	75.0	74.0					12																	99194847		1935	4140	6075	-	-	-	SO:0001819	synonymous_variant	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3123C>G	12.37:g.99194847G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,pfam_PTB,superfamily_SAM/pointed,smart_SAM,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SAM	p.P313R	ENST00000547776.2	37	c.938	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	G	7.542	0.660858	0.14645	.	.	ENSG00000185046	ENST00000550778	.	.	.	5.36	2.34	0.29019	.	.	.	.	.	T	0.47002	0.1422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	-8.4067	4.0609	0.09837	0.0796:0.2079:0.4805:0.232	.	.	.	.	R	313	.	.	P	-	2	0	ANKS1B	97718978	1.000000	0.71417	0.999000	0.59377	0.686000	0.39977	1.292000	0.33342	0.730000	0.32425	-0.176000	0.13171	CCT	ANKS1B	-	NULL	ENSG00000185046		0.458	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	111	0.00	0	G	NM_020140		99194847	99194847	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000550778	ensembl	human	novel	69_37n	missense	48	46.07	41	SNP	0.998	C
ANKS6	203286	genome.wustl.edu	37	9	101540588	101540588	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:101540588T>C	ENST00000353234.4	-	7	1534	c.1487A>G	c.(1486-1488)gAc>gGc	p.D496G	ANKS6_ENST00000540940.1_Missense_Mutation_p.D301G|ANKS6_ENST00000375018.1_Missense_Mutation_p.D496G|ANKS6_ENST00000375019.2_Missense_Mutation_p.D195G			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	496						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CATTGTGGAGTCCAGAGCTGG	0.582																																						dbGAP											0													40.0	46.0	44.0					9																	101540588		2014	4184	6198	-	-	-	SO:0001583	missense	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1487A>G	9.37:g.101540588T>C	ENSP00000297837:p.Asp496Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.D496G	ENST00000353234.4	37	c.1487	CCDS43856.1	9	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377192	0.82682	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.72505	1.3;-0.66;-0.64;1.65	5.66	5.66	0.87406	.	0.046592	0.85682	D	0.000000	T	0.69949	0.3168	M	0.63843	1.955	0.53688	D	0.999974	D;P	0.55385	0.971;0.952	P;B	0.44561	0.453;0.265	T	0.71928	-0.4444	10	0.40728	T	0.16	-30.1908	13.8579	0.63540	0.0:0.0:0.0:1.0	.	496;496	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	G	195;496;496;301	ENSP00000364159:D195G;ENSP00000364158:D496G;ENSP00000297837:D496G;ENSP00000442189:D301G	ENSP00000297837:D496G	D	-	2	0	ANKS6	100580409	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.540000	0.67205	2.154000	0.67381	0.533000	0.62120	GAC	ANKS6	-	NULL	ENSG00000165138		0.582	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	14	0.00	0	T	NM_173551		101540588	101540588	-1	no_errors	ENST00000375018	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	1.000	C
ANO4	121601	genome.wustl.edu	37	12	101295566	101295566	+	Start_Codon_SNP	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:101295566G>A	ENST00000392977.3	+	2	213	c.3G>A	c.(1-3)atG>atA	p.M1I	ANO4_ENST00000392979.3_Start_Codon_SNP_p.M1I|ANO4_ENST00000538618.1_Missense_Mutation_p.M167I|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	1					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAATAAAAATGGAGGCAAGCT	0.537										HNSCC(74;0.22)																												dbGAP											0													109.0	106.0	107.0					12																	101295566		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.3G>A	12.37:g.101295566G>A	ENSP00000376703:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.M1I	ENST00000392977.3	37	c.3		12	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900847	0.92035	.	.	ENSG00000151572	ENST00000538618;ENST00000546991;ENST00000392979;ENST00000392977	T;T;T	0.75367	-0.93;-0.35;-0.25	5.64	5.64	0.86602	.	0.170805	0.49305	D	0.000142	T	0.81847	0.4909	.	.	.	0.80722	D	1	P;P	0.39044	0.525;0.656	B;P	0.48627	0.38;0.584	T	0.82829	-0.0264	9	0.87932	D	0	.	19.6892	0.95991	0.0:0.0:1.0:0.0	.	1;1	Q32M45;Q32M45-2	ANO4_HUMAN;.	I	167;1;1;1	ENSP00000443751:M167I;ENSP00000376705:M1I;ENSP00000376703:M1I	ENSP00000376703:M1I	M	+	3	0	ANO4	99819697	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.159000	0.77483	2.657000	0.90304	0.655000	0.94253	ATG	ANO4	-	NULL	ENSG00000151572		0.537	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	190	0.00	0	G	NM_178826	Missense_Mutation	101295566	101295566	+1	no_errors	ENST00000392977	ensembl	human	known	69_37n	missense	182	37.67	110	SNP	1.000	A
DPH6	89978	genome.wustl.edu	37	15	35529571	35529571	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:35529571G>A	ENST00000560386.1	-	4	200				ANP32AP1_ENST00000560832.1_RNA			Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										GGAACAGGACGCCCTCTGATG	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000560386.1:c.3239-16788C>T	15.37:g.35529571G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWG1|Q96HJ6	RNA	SNP	-	NULL	ENST00000560386.1	37	NULL		15																																																																																			ANP32AP1	-	-	ENSG00000259516		0.507	DPH6-003	KNOWN	basic	processed_transcript	ANP32AP1	HGNC	protein_coding	OTTHUMT00000417824.1	363	0.00	0	G	NM_080650		35529571	35529571	+1	no_errors	ENST00000560832	ensembl	human	known	69_37n	rna	211	26.39	76	SNP	0.994	A
DPH6	89978	genome.wustl.edu	37	15	35530273	35530273	+	Intron	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:35530273A>T	ENST00000560386.1	-	4	200				ANP32AP1_ENST00000560832.1_RNA			Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										AAGTGGAATAACCTATTTTGA	0.413																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000560386.1:c.3239-17490T>A	15.37:g.35530273A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWG1|Q96HJ6	RNA	SNP	-	NULL	ENST00000560386.1	37	NULL		15																																																																																			ANP32AP1	-	-	ENSG00000259516		0.413	DPH6-003	KNOWN	basic	processed_transcript	ANP32AP1	HGNC	protein_coding	OTTHUMT00000417824.1	208	0.00	0	A	NM_080650		35530273	35530273	+1	no_errors	ENST00000560832	ensembl	human	known	69_37n	rna	83	30.25	36	SNP	0.842	T
ANP32D	23519	genome.wustl.edu	37	12	48866491	48866491	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:48866491C>T	ENST00000266594.1	+	1	44	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	15						nuclear matrix (GO:0016363)				central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CGGAACAGGACGCCCTCCGAT	0.458																																						dbGAP											0													111.0	113.0	112.0					12																	48866491		2203	4300	6503	-	-	-	SO:0001583	missense	0			U71084	CCDS31788.1	12q13.12	2008-08-04			ENSG00000139223	ENSG00000139223		"""ANP32 acidic nuclear phosphoproteins"""	16676	protein-coding gene	gene with protein product	"""pp32 related 2"""	606878				10086381, 10400610	Standard	NM_012404		Approved	PP32R2	uc010slt.2	O95626	OTTHUMG00000162681	ENST00000266594.1:c.44C>T	12.37:g.48866491C>T	ENSP00000266594:p.Thr15Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTC4	Missense_Mutation	SNP	NULL	p.T15M	ENST00000266594.1	37	c.44	CCDS31788.1	12	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508015	0.44558	.	.	ENSG00000139223	ENST00000266594	T	0.00460	7.27	1.6	-1.09	0.09904	.	0.181808	0.47093	D	0.000241	T	0.00412	0.0013	M	0.84948	2.725	0.43613	D	0.995988	P	0.45474	0.859	B	0.34180	0.177	T	0.71882	-0.4458	10	0.66056	D	0.02	.	3.32	0.07047	0.2471:0.5614:0.0:0.1915	.	15	O95626	AN32D_HUMAN	M	15	ENSP00000266594:T15M	ENSP00000266594:T15M	T	+	2	0	ANP32D	47152758	1.000000	0.71417	0.084000	0.20598	0.770000	0.43624	0.690000	0.25451	0.049000	0.15920	0.442000	0.29010	ACG	ANP32D	-	NULL	ENSG00000139223		0.458	ANP32D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32D	HGNC	protein_coding	OTTHUMT00000370058.1	379	0.00	0	C	NM_012404		48866491	48866491	+1	no_errors	ENST00000266594	ensembl	human	known	69_37n	missense	227	40.78	157	SNP	1.000	T
ANXA11	311	genome.wustl.edu	37	10	81915510	81915510	+	3'UTR	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:81915510G>A	ENST00000438331.1	-	0	2099				ANXA11_ENST00000372231.3_3'UTR|ANXA11_ENST00000422982.3_3'UTR|ANXA11_ENST00000535999.1_3'UTR|ANXA11_ENST00000360615.4_3'UTR|ANXA11_ENST00000265447.4_3'UTR	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11						cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTGAATCTCGGGGCTATTTG	0.542																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.*99C>T	10.37:g.81915510G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVE7	RNA	SNP	-	NULL	ENST00000438331.1	37	NULL	CCDS7364.1	10																																																																																			ANXA11	-	-	ENSG00000122359		0.542	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	87	0.00	0	G	NM_145869		81915510	81915510	-1	no_errors	ENST00000463340	ensembl	human	known	69_37n	rna	62	40.95	43	SNP	0.003	A
AP1B1	162	genome.wustl.edu	37	22	29727513	29727513	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:29727513T>C	ENST00000405198.1	-	18	2480	c.2449A>G	c.(2449-2451)Aag>Gag	p.K817E	AP1B1_ENST00000317368.7_Missense_Mutation_p.K790E|AP1B1_ENST00000402502.1_Missense_Mutation_p.K810E|AP1B1_ENST00000415447.1_Missense_Mutation_p.K810E|AP1B1_ENST00000357586.2_Missense_Mutation_p.K817E|AP1B1_ENST00000356015.2_Missense_Mutation_p.K810E|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000432560.2_Missense_Mutation_p.K810E|AP1B1_ENST00000472057.1_5'UTR			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	817					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATGTTGTTCTTCACGGCCACC	0.582																																						dbGAP											0													144.0	136.0	139.0					22																	29727513		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2449A>G	22.37:g.29727513T>C	ENSP00000384194:p.Lys817Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.K817E	ENST00000405198.1	37	c.2449	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	T	15.69	2.909065	0.52439	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.51	4.51	0.55191	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.93594	3.435	0.80722	D	1	D;P;P;P;B;D	0.89917	0.997;0.653;0.777;0.702;0.342;1.0	D;B;B;B;B;D	0.75020	0.963;0.244;0.415;0.358;0.313;0.985	D	0.84414	0.0567	10	0.87932	D	0	-13.6622	13.6281	0.62178	0.0:0.0:0.0:1.0	.	370;790;810;817;810;14	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3;Q7Z3M8	.;.;.;AP1B1_HUMAN;.;.	E	817;810;810;817;790;810;810	ENSP00000350199:K817E;ENSP00000348297:K810E;ENSP00000400065:K810E;ENSP00000384194:K817E;ENSP00000319361:K790E;ENSP00000386071:K810E;ENSP00000387612:K810E	ENSP00000319361:K790E	K	-	1	0	AP1B1	28057513	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	7.813000	0.86123	1.886000	0.54624	0.455000	0.32223	AAG	AP1B1	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig	ENSG00000100280		0.582	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	112	0.00	0	T	NM_001127		29727513	29727513	-1	no_errors	ENST00000357586	ensembl	human	known	69_37n	missense	56	40.43	38	SNP	1.000	C
AP1B1	162	genome.wustl.edu	37	22	29727890	29727890	+	Silent	SNP	G	G	A	rs200984005		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:29727890G>A	ENST00000405198.1	-	17	2356	c.2325C>T	c.(2323-2325)ccC>ccT	p.P775P	AP1B1_ENST00000317368.7_Silent_p.P748P|AP1B1_ENST00000402502.1_Silent_p.P768P|AP1B1_ENST00000415447.1_Silent_p.P768P|AP1B1_ENST00000357586.2_Silent_p.P775P|AP1B1_ENST00000356015.2_Silent_p.P768P|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000432560.2_Silent_p.P768P|AP1B1_ENST00000472057.1_5'UTR			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	775					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGGGGTGGCGGGGGCCAGGC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		14545	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													29.0	32.0	31.0					22																	29727890		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2325C>T	22.37:g.29727890G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.P775	ENST00000405198.1	37	c.2325	CCDS13855.1	22																																																																																			AP1B1	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	ENSG00000100280		0.672	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	17	0.00	0	G	NM_001127		29727890	29727890	-1	no_errors	ENST00000357586	ensembl	human	known	69_37n	silent	19	38.71	12	SNP	0.952	A
AP3M1	26985	genome.wustl.edu	37	10	75898019	75898019	+	Missense_Mutation	SNP	G	G	A	rs536850333		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:75898019G>A	ENST00000355264.4	-	2	430	c.119C>T	c.(118-120)gCt>gTt	p.A40V	AP3M1_ENST00000487653.1_5'UTR|AP3M1_ENST00000372745.1_Missense_Mutation_p.A40V	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	40					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TTCAACATCAGCAGCTTTCTC	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		17575	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													138.0	125.0	129.0					10																	75898019		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.119C>T	10.37:g.75898019G>A	ENSP00000347408:p.Ala40Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQ12|Q9H5L2	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.A40V	ENST00000355264.4	37	c.119	CCDS7342.1	10	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483637	0.44147	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.77358	-1.09;-1.09	5.82	4.92	0.64577	Longin-like (1);AP complex, mu/sigma subunit (1);	0.267481	0.39020	N	0.001487	T	0.67664	0.2917	L	0.33339	1.005	0.29290	N	0.869459	B;B	0.09022	0.0;0.002	B;B	0.10450	0.0;0.005	T	0.62803	-0.6777	10	0.44086	T	0.13	.	11.6593	0.51337	0.1526:0.0:0.8474:0.0	.	40;40	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	V	40	ENSP00000347408:A40V;ENSP00000361831:A40V	ENSP00000347408:A40V	A	-	2	0	AP3M1	75568025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.829000	0.48128	1.477000	0.48234	0.563000	0.77884	GCT	AP3M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000185009		0.428	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3M1	HGNC	protein_coding	OTTHUMT00000048747.1	146	0.00	0	G			75898019	75898019	-1	no_errors	ENST00000355264	ensembl	human	known	69_37n	missense	74	45.59	62	SNP	1.000	A
CORT	1325	genome.wustl.edu	37	1	10511637	10511639	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:10511637_10511639delCTC	ENST00000377049.3	+	2	808_810	c.303_305delCTC	c.(301-306)ttctcc>ttc	p.S103del	CORT_ENST00000320498.4_In_Frame_Del_p.S153del|APITD1-CORT_ENST00000400900.2_In_Frame_Del_p.S162del|APITD1-CORT_ENST00000470413.2_3'UTR|APITD1_ENST00000602787.1_In_Frame_Del_p.S162del|APITD1_ENST00000602296.1_3'UTR|APITD1-CORT_ENST00000465026.1_3'UTR	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	103					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GGAAGACCTTCTCCTCCTGCAAA	0.547																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.303_305delCTC	1.37:g.10511640_10511642delCTC	ENSP00000366248:p.Ser103del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6G0|Q6UX11	In_Frame_Del	DEL	pfam_Somatostatin/Cortistatin_C,superfamily_Histone-fold	p.S162in_frame_del	ENST00000377049.3	37	c.480_482	CCDS117.2	1																																																																																			APITD1-CORT	-	pfam_Somatostatin/Cortistatin_C	ENSG00000251503		0.547	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	APITD1-CORT	HGNC	protein_coding	OTTHUMT00000005410.3	20	0.00	0	CTC	NM_001302		10511637	10511639	+1	no_errors	ENST00000400900	ensembl	human	known	69_37n	in_frame_del	14	39.13	9	DEL	1.000:1.000:1.000	-
AP4B1	10717	genome.wustl.edu	37	1	114440545	114440545	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:114440545C>A	ENST00000369569.1	-	7	1499	c.1219G>T	c.(1219-1221)Gac>Tac	p.D407Y	AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.D407Y|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.D239Y	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	407					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAACCAGGTCTCGGAAAGTC	0.488																																						dbGAP											0													121.0	98.0	106.0					1																	114440545		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1219G>T	1.37:g.114440545C>A	ENSP00000358582:p.Asp407Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu	p.D407Y	ENST00000369569.1	37	c.1219	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228849	0.79576	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.28454	1.61;1.61;1.61	5.51	4.4	0.53042	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.087389	0.85682	D	0.000000	T	0.54240	0.1846	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.73708	0.981;0.974;0.981	T	0.63242	-0.6681	10	0.87932	D	0	.	14.9195	0.70826	0.0:0.9179:0.0:0.0821	.	239;407;308	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	Y	239;407;407	ENSP00000358580:D239Y;ENSP00000358582:D407Y;ENSP00000256658:D407Y	ENSP00000256658:D407Y	D	-	1	0	AP4B1	114242068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.660000	0.68018	2.584000	0.87258	0.455000	0.32223	GAC	AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu	ENSG00000134262		0.488	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	159	0.00	0	C	NM_006594		114440545	114440545	-1	no_errors	ENST00000256658	ensembl	human	known	69_37n	missense	106	36.90	62	SNP	1.000	A
APLP2	334	genome.wustl.edu	37	11	130007180	130007180	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:130007180delA	ENST00000263574.5	+	14	1939	c.1867delA	c.(1867-1869)aaafs	p.K624fs	APLP2_ENST00000338167.5_Intron|APLP2_ENST00000543137.1_Intron|APLP2_ENST00000539648.1_Frame_Shift_Del_p.K412fs|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000278756.7_Intron|APLP2_ENST00000528499.1_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	624					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCACCCAATGAAAAAAGGTTG	0.398																																						dbGAP											0													201.0	172.0	181.0					11																	130007180		2201	4297	6498	-	-	-	SO:0001589	frameshift_variant	0			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1867delA	11.37:g.130007180delA	ENSP00000263574:p.Lys624fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Frame_Shift_Del	DEL	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.G625fs	ENST00000263574.5	37	c.1867	CCDS8486.1	11																																																																																			APLP2	-	NULL	ENSG00000084234		0.398	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1	183	0.00	0	A	NM_001642		130007180	130007180	+1	no_errors	ENST00000263574	ensembl	human	known	69_37n	frame_shift_del	132	37.26	79	DEL	1.000	-
APOB	338	genome.wustl.edu	37	2	21247975	21247975	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:21247975G>A	ENST00000233242.1	-	16	2393	c.2266C>T	c.(2266-2268)Ctc>Ttc	p.L756F	APOB_ENST00000399256.4_Missense_Mutation_p.L756F	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	756					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAACACTGAGCATTATTCCA	0.443																																						dbGAP											0													82.0	84.0	83.0					2																	21247975		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2266C>T	2.37:g.21247975G>A	ENSP00000233242:p.Leu756Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L756F	ENST00000233242.1	37	c.2266	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.392689	0.01185	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.13778	2.56;2.56	5.7	-3.82	0.04281	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	1.718530	0.02970	N	0.144304	T	0.08626	0.0214	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.17433	0.018	T	0.34354	-0.9832	10	0.09843	T	0.71	.	8.1978	0.31407	0.2786:0.3504:0.3709:0.0	.	756	P04114	APOB_HUMAN	F	756	ENSP00000233242:L756F;ENSP00000382200:L756F	ENSP00000233242:L756F	L	-	1	0	APOB	21101480	0.000000	0.05858	0.005000	0.12908	0.017000	0.09413	-0.128000	0.10531	-0.939000	0.03709	-0.797000	0.03246	CTC	APOB	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell	ENSG00000084674		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	101	0.00	0	G			21247975	21247975	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	66	40.54	45	SNP	0.001	A
APOBR	55911	genome.wustl.edu	37	16	28507458	28507458	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:28507458G>A	ENST00000431282.1	+	3	1079	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.A366T|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.A357T			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	357	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGCCGGGACAGCCTCAGGAGG	0.667																																						dbGAP											0													16.0	19.0	18.0					16																	28507458		1959	4109	6068	-	-	-	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1069G>A	16.37:g.28507458G>A	ENSP00000416094:p.Ala357Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.A366T	ENST00000431282.1	37	c.1096		16	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288719	0.40494	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.60299	0.2;0.2	3.92	-4.9	0.03094	.	.	.	.	.	T	0.34395	0.0896	N	0.19112	0.55	0.09310	N	1	B	0.30146	0.27	B	0.29524	0.103	T	0.20371	-1.0277	9	0.34782	T	0.22	6.3641	6.5262	0.22303	0.3857:0.1261:0.4882:0.0	.	357	Q9NS13	.	T	357	ENSP00000327669:A357T;ENSP00000416094:A357T	ENSP00000327669:A357T	A	+	1	0	APOBR	28414959	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-2.026000	0.01434	-0.919000	0.03803	-0.382000	0.06688	GCC	APOBR	-	NULL	ENSG00000184730		0.667	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		25	0.00	0	G	NM_182804		28507458	28507458	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	0.002	A
APP	351	genome.wustl.edu	37	21	27423445	27423445	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:27423445T>C	ENST00000346798.3	-	5	566	c.533A>G	c.(532-534)aAg>aGg	p.K178R	APP_ENST00000359726.3_Missense_Mutation_p.K178R|APP_ENST00000357903.3_Missense_Mutation_p.K178R|APP_ENST00000440126.3_Missense_Mutation_p.K173R|APP_ENST00000439274.2_Missense_Mutation_p.K122R|APP_ENST00000348990.5_Missense_Mutation_p.K178R|APP_ENST00000474136.1_5'UTR|APP_ENST00000358918.3_Missense_Mutation_p.K178R|APP_ENST00000448388.2_Missense_Mutation_p.K143R|APP_ENST00000354192.3_Missense_Mutation_p.K122R	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	178					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CCCTCGGAACTTGTCAATTCC	0.507																																						dbGAP											0													108.0	88.0	95.0					21																	27423445		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.533A>G	21.37:g.27423445T>C	ENSP00000284981:p.Lys178Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.K178R	ENST00000346798.3	37	c.533	CCDS13576.1	21	.	.	.	.	.	.	.	.	.	.	T	8.155	0.788144	0.16258	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;D;D;D;D;D;D;D;D	0.96104	-1.96;-3.91;-3.89;-1.96;-1.8;-3.88;-3.89;-1.97;-1.99	5.72	5.72	0.89469	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.050967	0.85682	D	0.000000	D	0.84511	0.5488	N	0.00841	-1.15	0.48830	D	0.999717	B;B;B;B;B;B;B;B	0.22080	0.024;0.003;0.007;0.014;0.003;0.049;0.064;0.003	B;B;B;B;B;B;B;B	0.29716	0.009;0.003;0.01;0.036;0.003;0.067;0.106;0.005	T	0.82426	-0.0463	10	0.02654	T	1	-37.4229	15.6818	0.77376	0.0:0.0:0.0:1.0	.	178;143;122;173;122;178;178;178	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;.;A4_HUMAN	R	178;122;178;178;178;178;143;173;122	ENSP00000284981:K178R;ENSP00000346129:K122R;ENSP00000345463:K178R;ENSP00000350578:K178R;ENSP00000351796:K178R;ENSP00000352760:K178R;ENSP00000388538:K143R;ENSP00000387483:K173R;ENSP00000398879:K122R	ENSP00000284981:K178R	K	-	2	0	APP	26345316	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.087000	0.71362	2.174000	0.68829	0.533000	0.62120	AAG	APP	-	pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	ENSG00000142192		0.507	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	143	0.00	0	T	NM_000484		27423445	27423445	-1	no_errors	ENST00000346798	ensembl	human	known	69_37n	missense	61	45.54	51	SNP	1.000	C
ARFGEF1	10565	genome.wustl.edu	37	8	68140283	68140284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:68140283_68140284insT	ENST00000262215.3	-	25	3894_3895	c.3505_3506insA	c.(3505-3507)atafs	p.I1169fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.I7fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.I623fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1169					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTTCTACTATTTTTTGTAGA	0.327																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3506dupA	8.37:g.68140289_68140289dupT	ENSP00000262215:p.Ile1169fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NV46|Q9UFV2|Q9UNL0	Frame_Shift_Ins	INS	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.I1169fs	ENST00000262215.3	37	c.3506_3505	CCDS6199.1	8																																																																																			ARFGEF1	-	superfamily_ARM-type_fold	ENSG00000066777		0.327	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	204	0.49	1	-	NM_006421		68140283	68140284	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	frame_shift_ins	108	38.64	68	INS	1.000:1.000	T
ARHGAP25	9938	genome.wustl.edu	37	2	68962497	68962497	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:68962497C>T	ENST00000295381.3	+	1	480				ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000544262.1_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATGGATCTCGCAGCAAATCTG	0.448																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.61+105C>T	2.37:g.68962497C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	RNA	SNP	-	NULL	ENST00000295381.3	37	NULL		2																																																																																			ARHGAP25	-	-	ENSG00000163219		0.448	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding		101	0.00	0	C	NM_014882		68962497	68962497	+1	no_errors	ENST00000485700	ensembl	human	known	69_37n	rna	50	43.48	40	SNP	0.006	T
ARHGAP5	394	genome.wustl.edu	37	14	32560147	32560147	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:32560147A>T	ENST00000345122.3	+	2	587	c.272A>T	c.(271-273)cAt>cTt	p.H91L	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H91L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H91L|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H91L|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	91					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGCAAAATTCATGTCATTGAA	0.378																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											0													92.0	91.0	92.0					14																	32560147		2203	4299	6502	-	-	-	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.272A>T	14.37:g.32560147A>T	ENSP00000371897:p.His91Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.H91L	ENST00000345122.3	37	c.272	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	A	14.42	2.528717	0.44969	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T	0.42513	3.03;3.03;3.03;3.03;0.97	5.56	5.56	0.83823	.	0.224693	0.46758	D	0.000276	T	0.54919	0.1888	L	0.46157	1.445	0.41605	D	0.988877	D;P	0.55385	0.971;0.95	P;P	0.59424	0.857;0.724	T	0.58317	-0.7657	10	0.72032	D	0.01	.	15.7095	0.77615	1.0:0.0:0.0:0.0	.	91;91	Q13017-2;Q13017	.;RHG05_HUMAN	L	91	ENSP00000452222:H91L;ENSP00000441692:H91L;ENSP00000371897:H91L;ENSP00000393307:H91L;ENSP00000451579:H91L	ENSP00000371897:H91L	H	+	2	0	ARHGAP5	31629898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.101000	0.63845	0.533000	0.62120	CAT	ARHGAP5	-	NULL	ENSG00000100852		0.378	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	231	0.00	0	A	NM_001030055		32560147	32560147	+1	no_errors	ENST00000345122	ensembl	human	known	69_37n	missense	123	46.75	108	SNP	1.000	T
ARHGAP5	394	genome.wustl.edu	37	14	32562675	32562675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:32562675delT	ENST00000345122.3	+	2	3115	c.2800delT	c.(2800-2802)tttfs	p.F935fs	ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.F935fs|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.F935fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.F935fs|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	935					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTTTACTCTGTTTTTTAGTGA	0.333																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											0													68.0	66.0	67.0					14																	32562675		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2800delT	14.37:g.32562675delT	ENSP00000371897:p.Phe935fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.F935fs	ENST00000345122.3	37	c.2800	CCDS32062.1	14																																																																																			ARHGAP5	-	NULL	ENSG00000100852		0.333	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	274	0.00	0	T	NM_001030055		32562675	32562675	+1	no_errors	ENST00000345122	ensembl	human	known	69_37n	frame_shift_del	147	33.63	76	DEL	1.000	-
ARHGEF1	9138	genome.wustl.edu	37	19	42392288	42392288	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:42392288G>A	ENST00000354532.3	+	3	198	c.50G>A	c.(49-51)gGc>gAc	p.G17D	ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.G17D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.G32D|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.G32D|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.G17D	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	17					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCCCGGCCTGGCCTGGTTCCC	0.622																																						dbGAP											0													114.0	132.0	126.0					19																	42392288		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.50G>A	19.37:g.42392288G>A	ENSP00000346532:p.Gly17Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G32D	ENST00000354532.3	37	c.95	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	g	16.37	3.104693	0.56291	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	T;T;T;T	0.69435	-0.07;-0.17;-0.1;-0.4	3.4	2.21	0.28008	.	0.381407	0.19202	U	0.120167	T	0.65964	0.2742	N	0.24115	0.695	0.31178	N	0.702434	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.986;0.998;1.0;0.973;0.999	T	0.63554	-0.6611	10	0.44086	T	0.13	-19.07	7.8501	0.29448	0.0:0.2582:0.7418:0.0	.	32;32;17;17;77	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	D	17;17;53;32;32	ENSP00000346532:G17D;ENSP00000344429:G17D;ENSP00000337261:G32D;ENSP00000367394:G32D	ENSP00000323044:G53D	G	+	2	0	ARHGEF1	47084128	1.000000	0.71417	0.999000	0.59377	0.744000	0.42396	2.893000	0.48633	1.876000	0.54355	0.448000	0.29417	GGC	ARHGEF1	-	NULL	ENSG00000076928		0.622	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	77	0.00	0	G	NM_199002		42392288	42392288	+1	no_errors	ENST00000378152	ensembl	human	known	69_37n	missense	76	39.68	50	SNP	0.985	A
ARHGEF10	9639	genome.wustl.edu	37	8	1808261	1808261	+	Missense_Mutation	SNP	G	G	A	rs183992684	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:1808261G>A	ENST00000398564.1	+	4	464	c.464G>A	c.(463-465)tGc>tAc	p.C155Y	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.C155Y|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.C155Y|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.C155Y|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.C131Y|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.C131Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	155					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCTGTACCCTGCGGCTATGCG	0.662																																						dbGAP											0													132.0	109.0	117.0					8																	1808261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.464G>A	8.37:g.1808261G>A	ENSP00000381571:p.Cys155Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.C155Y	ENST00000398564.1	37	c.464		8	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989361	0.53934	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;D;T;D;T;T	0.83506	-0.58;-1.52;-0.62;-1.73;-0.62;-0.72	5.35	5.35	0.76521	.	0.112845	0.64402	D	0.000014	D	0.89560	0.6750	M	0.61703	1.905	0.53688	D	0.999973	D;D;D;D;D	0.71674	0.998;0.998;0.996;0.998;0.998	D;D;P;D;D	0.64877	0.93;0.93;0.853;0.93;0.93	D	0.90348	0.4364	10	0.72032	D	0.01	-22.1661	18.6289	0.91352	0.0:0.0:1.0:0.0	.	155;155;155;131;131	O15013-4;O15013-6;E9PB39;O15013-7;O15013-5	.;.;.;.;.	Y	131;131;155;155;155;155	ENSP00000340297:C131Y;ENSP00000427909:C131Y;ENSP00000431012:C155Y;ENSP00000381568:C155Y;ENSP00000381571:C155Y;ENSP00000262112:C155Y	ENSP00000262112:C155Y	C	+	2	0	ARHGEF10	1795668	1.000000	0.71417	0.998000	0.56505	0.228000	0.25075	5.423000	0.66458	2.501000	0.84356	0.557000	0.71058	TGC	ARHGEF10	-	NULL	ENSG00000104728		0.662	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		69	0.00	0	G			1808261	1808261	+1	no_errors	ENST00000398564	ensembl	human	known	69_37n	missense	51	40.70	35	SNP	1.000	A
ARHGEF19	128272	genome.wustl.edu	37	1	16525745	16525745	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:16525745G>A	ENST00000270747.3	-	15	2287	c.2151C>T	c.(2149-2151)tgC>tgT	p.C717C	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19-AS1_ENST00000457809.1_RNA	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	717	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GAACCTGGGGGCAATCTGACA	0.597																																						dbGAP											0													91.0	78.0	83.0					1																	16525745		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.2151C>T	1.37:g.16525745G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.C717	ENST00000270747.3	37	c.2151	CCDS170.1	1																																																																																			ARHGEF19	-	superfamily_SH3_domain,pfscan_SH3_domain	ENSG00000142632		0.597	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	160	0.00	0	G	NM_153213		16525745	16525745	-1	no_errors	ENST00000270747	ensembl	human	known	69_37n	silent	120	42.58	89	SNP	0.968	A
ARID1A	8289	genome.wustl.edu	37	1	27101259	27101259	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:27101259delC	ENST00000324856.7	+	18	4912	c.4541delC	c.(4540-4542)acgfs	p.T1514fs	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.T1131fs|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1514					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGGCAGAGCACGGGCTCTGCC	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													62.0	68.0	66.0					1																	27101259		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4541delC	1.37:g.27101259delC	ENSP00000320485:p.Thr1514fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T1514fs	ENST00000324856.7	37	c.4541	CCDS285.1	1																																																																																			ARID1A	-	NULL	ENSG00000117713		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	99	0.00	0	C	NM_139135		27101259	27101259	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	frame_shift_del	59	40.54	45	DEL	0.902	-
ARID1A	8289	genome.wustl.edu	37	1	27101486	27101486	+	Frame_Shift_Del	DEL	C	C	-	rs370907880		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:27101486delC	ENST00000324856.7	+	18	5139	c.4768delC	c.(4768-4770)cccfs	p.P1590fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P1373fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P1207fs|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1590					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCCCTGCTCCCCTGCCCCG	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													73.0	73.0	73.0					1																	27101486		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4768delC	1.37:g.27101486delC	ENSP00000320485:p.Pro1590fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L1591fs	ENST00000324856.7	37	c.4768	CCDS285.1	1																																																																																			ARID1A	-	NULL	ENSG00000117713		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	170	0.00	0	C	NM_139135		27101486	27101486	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	frame_shift_del	115	32.95	58	DEL	1.000	-
ARHGEF2	9181	genome.wustl.edu	37	1	155920204	155920204	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:155920204G>T	ENST00000361247.4	-	21	2872	c.2773C>A	c.(2773-2775)Cga>Aga	p.R925R	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Silent_p.R924R|ARHGEF2_ENST00000462460.2_Silent_p.R970R|ARHGEF2_ENST00000368316.1_Silent_p.R897R|ARHGEF2_ENST00000368315.4_Silent_p.R926R|ARHGEF2_ENST00000313695.7_Silent_p.R897R	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	925					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGCCTCTCTCGGTCCTCAAAG	0.617																																					Melanoma(178;35 2768 6610 28839)	dbGAP											0													67.0	63.0	64.0					1																	155920204		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2773C>A	1.37:g.155920204G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R926	ENST00000361247.4	37	c.2776	CCDS53376.1	1																																																																																			ARHGEF2	-	NULL	ENSG00000116584		0.617	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	66	0.00	0	G	NM_004723		155920204	155920204	-1	no_errors	ENST00000368315	ensembl	human	known	69_37n	silent	123	21.66	34	SNP	0.994	T
ARID5B	84159	genome.wustl.edu	37	10	63700041	63700041	+	Missense_Mutation	SNP	G	G	A	rs191606705		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:63700041G>A	ENST00000279873.7	+	3	786	c.376G>A	c.(376-378)Gct>Act	p.A126T		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	126					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGGCTTCCACGCTGGACCAGT	0.478																																						dbGAP											0													122.0	112.0	116.0					10																	63700041		2203	4300	6503	-	-	-	SO:0001583	missense	0			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.376G>A	10.37:g.63700041G>A	ENSP00000279873:p.Ala126Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.A126T	ENST00000279873.7	37	c.376	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528874	0.13127	.	.	ENSG00000150347	ENST00000279873	T	0.49432	0.78	5.7	3.86	0.44501	.	0.113360	0.64402	N	0.000013	T	0.33440	0.0863	L	0.32530	0.975	0.80722	D	1	P;B	0.38642	0.641;0.025	B;B	0.32149	0.141;0.004	T	0.09058	-1.0692	10	0.45353	T	0.12	-2.3987	11.8977	0.52665	0.064:0.0:0.8148:0.1212	.	126;126	Q14865-3;Q14865	.;ARI5B_HUMAN	T	126	ENSP00000279873:A126T	ENSP00000279873:A126T	A	+	1	0	ARID5B	63370047	1.000000	0.71417	0.048000	0.18961	0.022000	0.10575	4.681000	0.61663	0.760000	0.33108	-0.868000	0.02995	GCT	ARID5B	-	NULL	ENSG00000150347		0.478	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	121	0.00	0	G	XM_084482		63700041	63700041	+1	no_errors	ENST00000279873	ensembl	human	known	69_37n	missense	77	44.20	61	SNP	0.993	A
ARL8B	55207	genome.wustl.edu	37	3	5220444	5220446	+	3'UTR	DEL	ATT	ATT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	ATT	ATT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:5220444_5220446delATT	ENST00000256496.3	+	0	853_855				AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_3'UTR|ARL8B_ENST00000419534.2_In_Frame_Del_p.L158del	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B						cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TAATCCTAGAATTATTGTCCGTT	0.399																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.*48ATT>-	3.37:g.5220447_5220449delATT		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI85	In_Frame_Del	DEL	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.L158in_frame_del	ENST00000256496.3	37	c.468_470	CCDS2566.1	3																																																																																			ARL8B	-	smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type	ENSG00000134108		0.399	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL8B	HGNC	protein_coding	OTTHUMT00000206910.2	56	0.00	0	ATT	NM_018184		5220444	5220446	+1	no_errors	ENST00000419534	ensembl	human	known	69_37n	in_frame_del	32	34.69	17	DEL	0.696:0.767:0.817	-
ARMC12	221481	genome.wustl.edu	37	6	35705012	35705012	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:35705012C>T	ENST00000373866.3	+	1	149	c.127C>T	c.(127-129)Cca>Tca	p.P43S	ARMC12_ENST00000288065.2_Missense_Mutation_p.P43S|ARMC12_ENST00000373869.3_Missense_Mutation_p.P43S|RP3-510O8.4_ENST00000452048.1_RNA			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	43						nucleus (GO:0005634)											AAAATGCAAACCACCCCTCTG	0.637											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													114.0	104.0	107.0					6																	35705012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.127C>T	6.37:g.35705012C>T	ENSP00000362973:p.Pro43Ser	Somatic	857	WXS	Illumina GAIIx	Phase_IV	Q8NEB2|Q96LL8	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.P43S	ENST00000373866.3	37	c.127		6	.	.	.	.	.	.	.	.	.	.	C	7.392	0.630944	0.14322	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.40756	1.02;1.02;1.02	4.86	2.65	0.31530	.	0.469791	0.17834	N	0.160416	T	0.08670	0.0215	N	0.12746	0.255	0.09310	N	1	B;B	0.27351	0.024;0.176	B;B	0.21917	0.017;0.037	T	0.19976	-1.0289	10	0.32370	T	0.25	-7.8909	8.0755	0.30714	0.0:0.7729:0.0:0.2271	.	43;43	Q5T9G4-3;Q5T9G4-2	.;.	S	43	ENSP00000362976:P43S;ENSP00000288065:P43S;ENSP00000362973:P43S	ENSP00000288065:P43S	P	+	1	0	C6orf81	35812990	0.004000	0.15560	0.007000	0.13788	0.625000	0.37756	1.317000	0.33631	1.024000	0.39682	0.449000	0.29647	CCA	ARMC12	-	NULL	ENSG00000157343		0.637	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	ARMC12	HGNC	protein_coding	OTTHUMT00000040311.2	78	0.00	0	C	NM_145028		35705012	35705012	+1	no_errors	ENST00000288065	ensembl	human	known	69_37n	missense	62	31.11	28	SNP	0.002	T
ARMC5	79798	genome.wustl.edu	37	16	31473913	31473913	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:31473913G>A	ENST00000563544.1	+	4	1591	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	ARMC5_ENST00000457010.2_Missense_Mutation_p.V349M|ARMC5_ENST00000538189.1_Missense_Mutation_p.V381M|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000268314.4_Missense_Mutation_p.V349M|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Missense_Mutation_p.V444M			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	349										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCAGCCCCTGGTGCGGGCTGT	0.662																																						dbGAP											0													41.0	46.0	44.0					16																	31473913		1998	4152	6150	-	-	-	SO:0001583	missense	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1045G>A	16.37:g.31473913G>A	ENSP00000456877:p.Val349Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.V444M	ENST00000563544.1	37	c.1330	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	g	17.48	3.400566	0.62177	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.8	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.067447	0.64402	D	0.000014	T	0.64000	0.2559	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.998;1.0	D;D;D;D	0.91635	0.974;0.984;0.974;0.999	T	0.66023	-0.6026	10	0.56958	D	0.05	-19.0054	15.3447	0.74327	0.0:0.0:1.0:0.0	.	381;444;349;349	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	M	444;381;349;349	ENSP00000386125:V444M;ENSP00000443995:V381M;ENSP00000268314:V349M;ENSP00000399561:V349M	ENSP00000268314:V349M	V	+	1	0	ARMC5	31381414	1.000000	0.71417	0.993000	0.49108	0.750000	0.42670	6.380000	0.73158	2.217000	0.71921	0.457000	0.33378	GTG	ARMC5	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000140691		0.662	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	29	0.00	0	G	NM_024742		31473913	31473913	+1	no_errors	ENST00000408912	ensembl	human	known	69_37n	missense	15	30.43	7	SNP	1.000	A
ARMC8	25852	genome.wustl.edu	37	3	137942264	137942264	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:137942264C>T	ENST00000469044.1	+	4	499	c.228C>T	c.(226-228)agC>agT	p.S76S	ARMC8_ENST00000358441.2_Silent_p.S62S|ARMC8_ENST00000491704.1_Silent_p.S34S|ARMC8_ENST00000538260.1_Silent_p.S76S|ARMC8_ENST00000485396.1_Silent_p.S34S|ARMC8_ENST00000471453.1_Silent_p.S62S|ARMC8_ENST00000461822.1_Silent_p.S76S|ARMC8_ENST00000489213.1_Silent_p.S34S|ARMC8_ENST00000393058.3_Silent_p.S66S|ARMC8_ENST00000470821.1_Silent_p.S76S|ARMC8_ENST00000481646.1_Silent_p.S62S	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	76										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						AAACCTCAAGCACAGAGCTGA	0.383																																						dbGAP											0													85.0	83.0	83.0					3																	137942264		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.228C>T	3.37:g.137942264C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S76	ENST00000469044.1	37	c.228		3																																																																																			ARMC8	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000114098		0.383	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	154	0.00	0	C	NM_015396		137942264	137942264	+1	no_errors	ENST00000469044	ensembl	human	known	69_37n	silent	63	42.20	46	SNP	1.000	T
ARMCX5	64860	genome.wustl.edu	37	X	101858323	101858323	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:101858323G>A	ENST00000604957.1	+	1	3876	c.1254G>A	c.(1252-1254)ggG>ggA	p.G418G	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Silent_p.G418G|ARMCX5_ENST00000372742.1_Silent_p.G418G|ARMCX5_ENST00000246174.2_Silent_p.G418G|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Silent_p.G418G|ARMCX5_ENST00000537008.1_Silent_p.G418G	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	418										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AATTACTAGGGCACTTGAGTA	0.388																																						dbGAP											0													53.0	53.0	53.0					X																	101858323		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1254G>A	X.37:g.101858323G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.G418	ENST00000604957.1	37	c.1254	CCDS14500.1	X																																																																																			ARMCX5	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000125962		0.388	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	427	0.23	1	G	NM_022838		101858323	101858323	+1	no_errors	ENST00000246174	ensembl	human	known	69_37n	silent	233	41.69	168	SNP	0.000	A
ARPC1A	10552	genome.wustl.edu	37	7	98941935	98941935	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:98941935G>A	ENST00000262942.5	+	4	313	c.189G>A	c.(187-189)aaG>aaA	p.K63K	ARPC1A_ENST00000432884.2_Silent_p.K16K	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	63					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GGGCTCCCAAGAGCGACCGCA	0.532																																						dbGAP											0													77.0	71.0	73.0					7																	98941935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.189G>A	7.37:g.98941935G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K63	ENST00000262942.5	37	c.189	CCDS5660.1	7																																																																																			ARPC1A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000241685		0.532	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC1A	HGNC	protein_coding	OTTHUMT00000335908.1	55	0.00	0	G	NM_006409		98941935	98941935	+1	no_errors	ENST00000262942	ensembl	human	known	69_37n	silent	39	35.00	21	SNP	1.000	A
ARSE	415	genome.wustl.edu	37	X	2873545	2873545	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:2873545G>A	ENST00000381134.3	-	4	285	c.219C>T	c.(217-219)ggC>ggT	p.G73G	ARSE_ENST00000540563.1_Silent_p.G28G|ARSE_ENST00000545496.1_Silent_p.G98G|ARSE_ENST00000496095.1_5'Flank	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	73					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCAGCTTCACGCCGTCCTCTG	0.502																																						dbGAP											0													127.0	82.0	97.0					X																	2873545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.219C>T	X.37:g.2873545G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FT2|Q53FU8	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G98	ENST00000381134.3	37	c.294	CCDS14122.1	X																																																																																			ARSE	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000157399		0.502	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	HGNC	protein_coding	OTTHUMT00000055643.1	41	0.00	0	G	NM_000047		2873545	2873545	-1	no_errors	ENST00000545496	ensembl	human	known	69_37n	silent	28	44.00	22	SNP	0.061	A
ARV1	64801	genome.wustl.edu	37	1	231132973	231132973	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:231132973A>G	ENST00000310256.2	+	5	837	c.780A>G	c.(778-780)ggA>ggG	p.G260G	ARV1_ENST00000366658.2_Silent_p.G220G	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	260					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		GGGATGTTGGAAGTGATTATG	0.423																																						dbGAP											0													255.0	223.0	234.0					1																	231132973		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.780A>G	1.37:g.231132973A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	pfam_Arv1	p.E257G	ENST00000310256.2	37	c.770	CCDS1589.1	1	.	.	.	.	.	.	.	.	.	.	a	4.078	0.012322	0.07912	.	.	ENSG00000173409	ENST00000450711;ENST00000435927	.	.	.	4.42	1.85	0.25348	.	.	.	.	.	T	0.59101	0.2169	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52653	-0.8547	4	.	.	.	-0.344	10.3918	0.44175	0.5857:0.4143:0.0:0.0	.	.	.	.	G	257;280	.	.	E	+	2	0	ARV1	229199596	1.000000	0.71417	0.904000	0.35570	0.317000	0.28152	0.953000	0.29162	0.240000	0.21263	0.524000	0.50904	GAA	ARV1	-	NULL	ENSG00000173409		0.423	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARV1	HGNC	protein_coding	OTTHUMT00000092362.2	361	0.28	1	A	NM_022786		231132973	231132973	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000450711	ensembl	human	known	69_37n	missense	340	30.61	150	SNP	0.989	G
ASAP1	50807	genome.wustl.edu	37	8	131088594	131088594	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:131088594C>T	ENST00000518721.1	-	27	2928	c.2701G>A	c.(2701-2703)Gtg>Atg	p.V901M	ASAP1_ENST00000357668.1_Splice_Site_p.V901M	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	901	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TAGATCTTACCTTTCTGAGGT	0.398																																						dbGAP											0													79.0	77.0	78.0					8																	131088594		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2701+1G>A	8.37:g.131088594C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,prints_ArfGAP,prints_p67phox,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP	p.V901M	ENST00000518721.1	37	c.2701	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.086338|4.086338	0.76642|0.76642	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.06528	.|3.29;3.29	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.861921	.|0.09867	.|N	.|0.745377	T|T	0.22781|0.22781	0.0550|0.0550	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.85130	.|0.994;0.994;0.997	T|T	0.00045|0.00045	-1.2215|-1.2215	5|9	.|.	.|.	.|.	.|.	15.2236|15.2236	0.73333|0.73333	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|901;901;904	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	N|M	721;257|904;901;901	.|ENSP00000350297:V901M;ENSP00000429900:V901M	.|.	S|V	-|-	2|1	0|0	ASAP1|ASAP1	131157776|131157776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	5.348000|5.348000	0.66004|0.66004	2.735000|2.735000	0.93741|0.93741	0.643000|0.643000	0.83706|0.83706	AGT|GTG	ASAP1	-	NULL	ENSG00000153317		0.398	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	171	0.00	0	C	NM_018482	Missense_Mutation	131088594	131088594	-1	no_errors	ENST00000357668	ensembl	human	known	69_37n	missense	124	43.64	96	SNP	1.000	T
ASCC2	84164	genome.wustl.edu	37	22	30221115	30221116	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:30221115_30221116delAA	ENST00000397771.2	-	5	548_549	c.371_372delTT	c.(370-372)tttfs	p.F124fs	ASCC2_ENST00000542393.1_Frame_Shift_Del_p.F71fs|ASCC2_ENST00000307790.3_Frame_Shift_Del_p.F124fs			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGAAGGTGAGAAAAACACTTCG	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.371_372delTT	22.37:g.30221117_30221118delAA	ENSP00000380877:p.Phe124fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Frame_Shift_Del	DEL	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.F124fs	ENST00000397771.2	37	c.372_371	CCDS13869.1	22																																																																																			ASCC2	-	NULL	ENSG00000100325		0.564	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	138	0.00	0	AA	NM_032204		30221115	30221116	-1	no_errors	ENST00000307790	ensembl	human	known	69_37n	frame_shift_del	112	44.83	91	DEL	1.000:1.000	-
ASPA	443	genome.wustl.edu	37	17	3397706	3397706	+	Missense_Mutation	SNP	C	C	G	rs367957948		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:3397706C>G	ENST00000263080.2	+	5	855	c.697C>G	c.(697-699)Cgg>Ggg	p.R233G	ASPA_ENST00000456349.2_Missense_Mutation_p.R233G|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	233					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TGATTACCCCCGGGATGAAAA	0.338																																						dbGAP											0			GRCh37	CI023717	ASPA	I							175.0	196.0	189.0					17																	3397706		2203	4300	6503	-	-	-	SO:0001583	missense	0			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.697C>G	17.37:g.3397706C>G	ENSP00000263080:p.Arg233Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.R233G	ENST00000263080.2	37	c.697	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	c	15.94	2.979854	0.53827	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97941	-4.62;-4.62	5.72	0.307	0.15811	.	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	M	0.89478	3.035	0.80722	D	1	D	0.56521	0.976	P	0.50708	0.648	D	0.97746	1.0211	10	0.87932	D	0	-16.2604	14.8353	0.70177	0.4573:0.5427:0.0:0.0	.	233	P45381	ACY2_HUMAN	G	233	ENSP00000409976:R233G;ENSP00000263080:R233G	ENSP00000263080:R233G	R	+	1	2	ASPA	3344456	0.183000	0.23186	0.999000	0.59377	0.693000	0.40251	0.492000	0.22435	0.151000	0.19162	-0.272000	0.10252	CGG	ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase	ENSG00000108381		0.338	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	444	0.00	0	C	NM_000049		3397706	3397706	+1	no_errors	ENST00000263080	ensembl	human	known	69_37n	missense	327	34.07	169	SNP	0.971	G
ASPHD2	57168	genome.wustl.edu	37	22	26830390	26830390	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:26830390G>A	ENST00000215906.5	+	2	1247	c.809G>A	c.(808-810)tGc>tAc	p.C270Y		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	270					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GGGAACGCGTGCATCTCTGTG	0.547																																						dbGAP											0													189.0	186.0	187.0					22																	26830390		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.809G>A	22.37:g.26830390G>A	ENSP00000215906:p.Cys270Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	pfam_Asp_Arg_b-Hydrxlase	p.C270Y	ENST00000215906.5	37	c.809	CCDS13834.2	22	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022545	0.54683	.	.	ENSG00000128203	ENST00000215906	T	0.41065	1.01	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.26430	-1.0103	10	0.02654	T	1	-40.7428	17.0945	0.86631	0.0:0.0:1.0:0.0	.	270	Q6ICH7	ASPH2_HUMAN	Y	270	ENSP00000215906:C270Y	ENSP00000215906:C270Y	C	+	2	0	ASPHD2	25160390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	TGC	ASPHD2	-	pfam_Asp_Arg_b-Hydrxlase	ENSG00000128203		0.547	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	144	0.00	0	G	NM_020437		26830390	26830390	+1	no_errors	ENST00000215906	ensembl	human	known	69_37n	missense	86	36.76	50	SNP	1.000	A
ASTN1	460	genome.wustl.edu	37	1	176913086	176913087	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:176913086_176913087insT	ENST00000367654.3	-	14	2552_2553	c.2341_2342insA	c.(2341-2343)ctgfs	p.L781fs	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Frame_Shift_Ins_p.L773fs|ASTN1_ENST00000424564.2_Frame_Shift_Ins_p.L773fs|ASTN1_ENST00000361833.2_Frame_Shift_Ins_p.L773fs	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	781					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGATTCTCCAGGGGCACAGTG	0.515																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2341_2342insA	1.37:g.176913086_176913087insT	ENSP00000356626:p.Leu781fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Frame_Shift_Ins	INS	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.L781fs	ENST00000367654.3	37	c.2342_2341		1																																																																																			ASTN1	-	NULL	ENSG00000152092		0.515	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		146	0.00	0	-	NM_004319		176913086	176913087	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	frame_shift_ins	110	32.52	53	INS	0.939:0.787	T
ASTN1	460	genome.wustl.edu	37	1	177001650	177001650	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:177001650C>T	ENST00000367654.3	-	3	1018	c.807G>A	c.(805-807)acG>acA	p.T269T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.T269T|ASTN1_ENST00000424564.2_Silent_p.T269T|ASTN1_ENST00000361833.2_Silent_p.T269T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	269					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGAGGGTGCGCGTGACCTGGC	0.587																																						dbGAP											0													138.0	117.0	124.0					1																	177001650		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.807G>A	1.37:g.177001650C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.T269	ENST00000367654.3	37	c.807		1																																																																																			ASTN1	-	NULL	ENSG00000152092		0.587	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		133	0.00	0	C	NM_004319		177001650	177001650	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	silent	160	29.13	67	SNP	0.545	T
ATAD5	79915	genome.wustl.edu	37	17	29196663	29196663	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:29196663A>G	ENST00000321990.4	+	14	3984	c.3606A>G	c.(3604-3606)ccA>ccG	p.P1202P		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1202					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GCAAGTCACCAAGTAAGTAAA	0.303																																						dbGAP											0													60.0	62.0	61.0					17																	29196663		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3607+1A>G	17.37:g.29196663A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.P1202	ENST00000321990.4	37	c.3606	CCDS11260.1	17																																																																																			ATAD5	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase	ENSG00000176208		0.303	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	204	0.00	0	A	NM_024857	Silent	29196663	29196663	+1	no_errors	ENST00000321990	ensembl	human	known	69_37n	silent	127	35.35	70	SNP	1.000	G
ATG16L2	89849	genome.wustl.edu	37	11	72535783	72535785	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:72535783_72535785delAAG	ENST00000321297.5	+	9	1030_1032	c.892_894delAAG	c.(892-894)aagdel	p.K299del	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	299					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CCCCAGTTTTAAGAAGAGGAGAG	0.581																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.892_894delAAG	11.37:g.72535786_72535788delAAG	ENSP00000326340:p.Lys299del	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	In_Frame_Del	DEL	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K299in_frame_del	ENST00000321297.5	37	c.892_894	CCDS31634.1	11																																																																																			ATG16L2	-	NULL	ENSG00000168010		0.581	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	31	0.00	0	AAG	NM_033388		72535783	72535785	+1	no_errors	ENST00000321297	ensembl	human	known	69_37n	in_frame_del	20	22.22	6	DEL	1.000:1.000:1.000	-
ATL2	64225	genome.wustl.edu	37	2	38525438	38525438	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:38525438A>C	ENST00000378954.4	-	12	1481	c.1480T>G	c.(1480-1482)Ttc>Gtc	p.F494V	ATL2_ENST00000452935.2_Missense_Mutation_p.F476V|ATL2_ENST00000406122.1_Missense_Mutation_p.F323V|ATL2_ENST00000539122.1_Missense_Mutation_p.F323V|ATL2_ENST00000546051.1_Missense_Mutation_p.F323V|ATL2_ENST00000332337.4_Missense_Mutation_p.F476V|ATL2_ENST00000419554.2_Missense_Mutation_p.F494V|ATL2_ENST00000402054.1_Missense_Mutation_p.F323V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	494					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGCCAATGAAGCCAGTCAGT	0.418																																						dbGAP											0													136.0	118.0	124.0					2																	38525438		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1480T>G	2.37:g.38525438A>C	ENSP00000368237:p.Phe494Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.F494V	ENST00000378954.4	37	c.1480	CCDS46260.1	2	.	.	.	.	.	.	.	.	.	.	A	17.73	3.462735	0.63513	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	D;D;D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	5.81	5.81	0.92471	.	0.085857	0.85682	D	0.000000	D	0.91825	0.7413	M	0.86420	2.815	0.80722	D	1	P;B;B;P;B	0.44429	0.835;0.114;0.182;0.553;0.114	B;B;B;B;B	0.37888	0.211;0.04;0.086;0.26;0.04	D	0.90829	0.4715	10	0.18710	T	0.47	-10.6929	15.3584	0.74448	1.0:0.0:0.0:0.0	.	323;476;476;494;494	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	V	494;323;323;323;476;494;476;323	ENSP00000368237:F494V;ENSP00000385446:F323V;ENSP00000384062:F323V;ENSP00000446192:F323V;ENSP00000333393:F476V;ENSP00000415336:F494V;ENSP00000390743:F476V;ENSP00000438938:F323V	ENSP00000333393:F476V	F	-	1	0	ATL2	38378942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.144000	0.94629	2.217000	0.71921	0.482000	0.46254	TTC	ATL2	-	NULL	ENSG00000119787		0.418	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATL2	HGNC	protein_coding	OTTHUMT00000219886.2	348	0.00	0	A	NM_022374		38525438	38525438	-1	no_errors	ENST00000378954	ensembl	human	known	69_37n	missense	153	40.23	103	SNP	1.000	C
ATL2	64225	genome.wustl.edu	37	2	38537462	38537462	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:38537462C>T	ENST00000378954.4	-	8	933	c.932G>A	c.(931-933)gGg>gAg	p.G311E	ATL2_ENST00000452935.2_Missense_Mutation_p.G293E|ATL2_ENST00000406122.1_Missense_Mutation_p.G140E|ATL2_ENST00000332337.4_Missense_Mutation_p.G293E|ATL2_ENST00000402054.1_Missense_Mutation_p.G140E|ATL2_ENST00000546051.1_Missense_Mutation_p.G140E|ATL2_ENST00000419554.2_Missense_Mutation_p.G311E|ATL2_ENST00000539122.1_Missense_Mutation_p.G140E	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	311	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTTCAATCTCCCATCAAAACT	0.363																																						dbGAP											0													112.0	102.0	106.0					2																	38537462		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.932G>A	2.37:g.38537462C>T	ENSP00000368237:p.Gly311Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.G311E	ENST00000378954.4	37	c.932	CCDS46260.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.174305|5.174305	0.94807|0.94807	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130|ENST00000443098	T;T;T;T;T;T;T;T;T|T	0.61274|0.60797	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12|0.16	5.46|5.46	5.46|5.46	0.80206|0.80206	Guanylate-binding protein, N-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.84266|0.84266	0.5434|0.5434	H|H	0.96239|0.96239	3.79|3.79	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.987;0.997;1.0;1.0|.	D;P;P;D;D|.	0.91635|.	0.99;0.849;0.891;0.999;0.998|.	D|D	0.89255|0.89255	0.3593|0.3593	10|8	0.48119|0.87932	T|D	0.1|0	-13.3878|-13.3878	18.305|18.305	0.90177|0.90177	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	140;293;293;311;311|.	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9|.	.;.;.;.;ATLA2_HUMAN|.	E|R	311;140;140;140;293;311;293;140;129|230	ENSP00000368237:G311E;ENSP00000385446:G140E;ENSP00000384062:G140E;ENSP00000446192:G140E;ENSP00000333393:G293E;ENSP00000415336:G311E;ENSP00000390743:G293E;ENSP00000438938:G140E;ENSP00000409811:G129E|ENSP00000410592:G230R	ENSP00000333393:G293E|ENSP00000410592:G230R	G|G	-|-	2|1	0|0	ATL2|ATL2	38390966|38390966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.669000|7.669000	0.83911|0.83911	2.553000|2.553000	0.86117|0.86117	0.557000|0.557000	0.71058|0.71058	GGG|GGA	ATL2	-	pfam_Guanylate-bd_N	ENSG00000119787		0.363	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATL2	HGNC	protein_coding	OTTHUMT00000219886.2	244	0.00	0	C	NM_022374		38537462	38537462	-1	no_errors	ENST00000378954	ensembl	human	known	69_37n	missense	96	47.25	86	SNP	1.000	T
ATP10B	23120	genome.wustl.edu	37	5	160114946	160114946	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:160114946G>A	ENST00000327245.5	-	5	982	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	46					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACACGACCCGCTGCTGTGTC	0.527																																						dbGAP											0													193.0	196.0	195.0					5																	160114946		2041	4189	6230	-	-	-	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.136C>T	5.37:g.160114946G>A	ENSP00000313600:p.Arg46Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R46W	ENST00000327245.5	37	c.136	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178927	0.57692	.	.	ENSG00000118322	ENST00000327245	T	0.64991	-0.13	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000005	T	0.78097	0.4230	M	0.79475	2.455	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.79475	-0.1788	9	.	.	.	.	13.0956	0.59190	0.0:0.0:0.8289:0.1711	.	90;46;46	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	W	46	ENSP00000313600:R46W	.	R	-	1	2	ATP10B	160047524	1.000000	0.71417	0.994000	0.49952	0.345000	0.29048	2.073000	0.41519	2.349000	0.79799	0.467000	0.42956	CGG	ATP10B	-	NULL	ENSG00000118322		0.527	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	178	0.00	0	G	NM_025153		160114946	160114946	-1	no_errors	ENST00000327245	ensembl	human	known	69_37n	missense	110	39.89	73	SNP	0.999	A
ATP11B	23200	genome.wustl.edu	37	3	182590210	182590210	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:182590210A>T	ENST00000323116.5	+	18	2193	c.1933A>T	c.(1933-1935)Aaa>Taa	p.K645*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	645					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GGAAATAGATAAACGCATATT	0.358																																						dbGAP											0													88.0	98.0	95.0					3																	182590210		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1933A>T	3.37:g.182590210A>T	ENSP00000321195:p.Lys645*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.K645*	ENST00000323116.5	37	c.1933	CCDS33896.1	3	.	.	.	.	.	.	.	.	.	.	A	41	8.890773	0.98992	.	.	ENSG00000058063	ENST00000323116	.	.	.	5.56	4.37	0.52481	.	0.271361	0.40908	D	0.000994	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8987	0.52671	0.7028:0.2972:0.0:0.0	.	.	.	.	X	645	.	ENSP00000321195:K645X	K	+	1	0	ATP11B	184072904	0.984000	0.35163	0.142000	0.22268	0.895000	0.52256	2.955000	0.49121	0.882000	0.36016	0.477000	0.44152	AAA	ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000058063		0.358	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	185	0.00	0	A	NM_014616		182590210	182590210	+1	no_errors	ENST00000323116	ensembl	human	known	69_37n	nonsense	125	35.57	69	SNP	0.983	T
ATP1A2	477	genome.wustl.edu	37	1	160109736	160109736	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:160109736A>T	ENST00000361216.3	+	22	3085	c.2996A>T	c.(2995-2997)gAt>gTt	p.D999V	ATP1A2_ENST00000392233.3_Missense_Mutation_p.D988V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	999					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTCATCTATGATGAGGTCCGA	0.582																																						dbGAP											0													147.0	131.0	137.0					1																	160109736		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2996A>T	1.37:g.160109736A>T	ENSP00000354490:p.Asp999Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.D999V	ENST00000361216.3	37	c.2996	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.385159|4.385159	0.82792|0.82792	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.95756|.	-3.8;-2.41|.	4.37|4.37	4.37|4.37	0.52481|0.52481	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86439|0.86439	0.5933|0.5933	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	D|D	0.90703|0.90703	0.4622|0.4622	10|5	0.87932|.	D|.	0|.	.|.	11.8574|11.8574	0.52446|0.52446	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	899;999|.	F5GXJ7;P50993|.	.;AT1A2_HUMAN|.	V|L	999;988;702|693	ENSP00000354490:D999V;ENSP00000376066:D988V|.	ENSP00000354490:D999V|.	D|M	+|+	2|1	0|0	ATP1A2|ATP1A2	158376360|158376360	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.984000|0.984000	0.73092|0.73092	9.087000|9.087000	0.94110|0.94110	1.960000|1.960000	0.56953|0.56953	0.533000|0.533000	0.62120|0.62120	GAT|ATG	ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000018625		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	111	0.00	0	A	NM_000702		160109736	160109736	+1	no_errors	ENST00000361216	ensembl	human	known	69_37n	missense	160	32.64	78	SNP	1.000	T
ATP2B1	490	genome.wustl.edu	37	12	90004976	90004976	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:90004976delT	ENST00000428670.3	-	13	2697	c.2241delA	c.(2239-2241)aaafs	p.K747fs	ATP2B1_ENST00000261173.2_Frame_Shift_Del_p.K747fs|ATP2B1_ENST00000359142.3_Frame_Shift_Del_p.K747fs|ATP2B1_ENST00000348959.3_Frame_Shift_Del_p.K747fs|ATP2B1_ENST00000393164.2_Frame_Shift_Del_p.K490fs			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	747					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTACCTCTCCTTTTTCATTTC	0.323																																						dbGAP											0													74.0	79.0	78.0					12																	90004976		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2241delA	12.37:g.90004976delT	ENSP00000392043:p.Lys747fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.G748fs	ENST00000428670.3	37	c.2241	CCDS9035.1	12																																																																																			ATP2B1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000070961		0.323	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	556	0.00	0	T	NM_001682		90004976	90004976	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	frame_shift_del	302	36.01	175	DEL	0.996	-
ATP2B3	492	genome.wustl.edu	37	X	152821597	152821597	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:152821597G>T	ENST00000349466.2	+	13	2475	c.2149G>T	c.(2149-2151)Gcc>Tcc	p.A717S	ATP2B3_ENST00000359149.3_Missense_Mutation_p.A717S|ATP2B3_ENST00000370186.1_Missense_Mutation_p.A703S|ATP2B3_ENST00000370181.2_Missense_Mutation_p.A703S|ATP2B3_ENST00000393842.1_Missense_Mutation_p.A703S|ATP2B3_ENST00000263519.4_Missense_Mutation_p.A717S			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	717					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCATCGCAGCCAAATGCGG	0.597																																						dbGAP											0													77.0	70.0	72.0					X																	152821597		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2149G>T	X.37:g.152821597G>T	ENSP00000343886:p.Ala717Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.A717S	ENST00000349466.2	37	c.2149	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	9.957	1.221713	0.22457	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	4.87	4.87	0.63330	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.054875	0.64402	D	0.000001	D	0.90463	0.7013	N	0.10685	0.025	0.34753	D	0.731934	B;B	0.10296	0.003;0.001	B;B	0.17098	0.017;0.005	D	0.88780	0.3270	10	0.21540	T	0.41	-25.9472	16.1639	0.81739	0.0:0.0:1.0:0.0	.	717;717	Q16720;Q16720-2	AT2B3_HUMAN;.	S	703;717;703;717;717;703	ENSP00000359205:A703S;ENSP00000343886:A717S;ENSP00000377425:A703S;ENSP00000352062:A717S;ENSP00000263519:A717S;ENSP00000359200:A703S	ENSP00000263519:A717S	A	+	1	0	ATP2B3	152474791	0.026000	0.19158	0.909000	0.35828	0.490000	0.33462	1.593000	0.36686	2.155000	0.67459	0.529000	0.55759	GCC	ATP2B3	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000067842		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	81	0.00	0	G	NM_021949		152821597	152821597	+1	no_errors	ENST00000263519	ensembl	human	known	69_37n	missense	43	45.57	36	SNP	0.977	T
ATP2C1	27032	genome.wustl.edu	37	3	130672715	130672715	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:130672715delT	ENST00000510168.1	+	9	1132	c.582delT	c.(580-582)cctfs	p.P194fs	ATP2C1_ENST00000422190.2_Frame_Shift_Del_p.P194fs|ATP2C1_ENST00000508532.1_Frame_Shift_Del_p.P194fs|ATP2C1_ENST00000428331.2_Frame_Shift_Del_p.P194fs|ATP2C1_ENST00000504381.1_Frame_Shift_Del_p.P139fs|ATP2C1_ENST00000505330.1_Frame_Shift_Del_p.P178fs|ATP2C1_ENST00000507488.2_Frame_Shift_Del_p.P178fs|ATP2C1_ENST00000393221.4_Frame_Shift_Del_p.P228fs|ATP2C1_ENST00000513801.1_Frame_Shift_Del_p.P178fs|ATP2C1_ENST00000359644.3_Frame_Shift_Del_p.P194fs|ATP2C1_ENST00000328560.8_Frame_Shift_Del_p.P194fs|ATP2C1_ENST00000504948.1_Frame_Shift_Del_p.P178fs|ATP2C1_ENST00000533801.2_Frame_Shift_Del_p.P189fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	194					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGACAACGCCTTGTTCTAAGG	0.443									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	dbGAP											0													136.0	130.0	132.0					3																	130672715		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.582delT	3.37:g.130672715delT	ENSP00000427461:p.Pro194fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.C229fs	ENST00000510168.1	37	c.684	CCDS46914.1	3																																																																																			ATP2C1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000017260		0.443	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	177	0.00	0	T	NM_001001486		130672715	130672715	+1	no_errors	ENST00000393221	ensembl	human	known	69_37n	frame_shift_del	91	40.00	64	DEL	1.000	-
ATP4A	495	genome.wustl.edu	37	19	36048565	36048565	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:36048565C>T	ENST00000262623.3	-	11	1713	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	562					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ACCGAGCACGCGTTCGCCCAG	0.687																																						dbGAP											0													14.0	14.0	14.0					19																	36048565		2198	4285	6483	-	-	-	SO:0001583	missense	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1685G>A	19.37:g.36048565C>T	ENSP00000262623:p.Arg562His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.R562H	ENST00000262623.3	37	c.1685	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836432	0.71373	.	.	ENSG00000105675	ENST00000262623	D	0.92545	-3.06	3.99	3.99	0.46301	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.704560	0.12720	N	0.444785	D	0.95427	0.8515	H	0.97214	3.96	0.50467	D	0.999875	B	0.18013	0.025	B	0.29524	0.103	D	0.95328	0.8427	10	0.87932	D	0	.	13.6161	0.62108	0.0:1.0:0.0:0.0	.	562	P20648	ATP4A_HUMAN	H	562	ENSP00000262623:R562H	ENSP00000262623:R562H	R	-	2	0	ATP4A	40740405	0.980000	0.34600	0.986000	0.45419	0.738000	0.42128	7.523000	0.81856	2.068000	0.61886	0.484000	0.47621	CGC	ATP4A	-	superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000105675		0.687	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	29	0.00	0	C	NM_000704		36048565	36048565	-1	no_errors	ENST00000262623	ensembl	human	known	69_37n	missense	15	46.43	13	SNP	1.000	T
ATP5O	539	genome.wustl.edu	37	21	35284669	35284669	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:35284669T>C	ENST00000290299.2	-	3	338	c.122A>G	c.(121-123)tAt>tGt	p.Y41C	ATP5O_ENST00000496044.1_5'Flank|AP000304.12_ENST00000429238.1_5'Flank	NM_001697.2	NP_001688.1	P48047	ATPO_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit	41					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						AGCTGTGGCATAGCGACCTTC	0.378																																						dbGAP											0													104.0	98.0	100.0					21																	35284669		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088071	CCDS13634.1	21q22	2012-10-12	2008-07-31		ENSG00000241837	ENSG00000241837	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	850	protein-coding gene	gene with protein product	"""oligomycin sensitivity conferring protein"""	600828				7490082	Standard	NM_001697		Approved	OSCP, ATPO		P48047	OTTHUMG00000065186	ENST00000290299.2:c.122A>G	21.37:g.35284669T>C	ENSP00000290299:p.Tyr41Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4E2|Q5U042|Q6IBI2	Missense_Mutation	SNP	pfam_ATPase_F1-cplx_OSCP/dsu,superfamily_ATPase_OSCP/delta_N,prints_ATPase_F1-cplx_OSCP/dsu,tigrfam_ATPase_F1-cplx_OSCP/dsu	p.Y41C	ENST00000290299.2	37	c.122	CCDS13634.1	21	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636991	0.87760	.	.	ENSG00000241837	ENST00000290299	D	0.87887	-2.31	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95743	0.8615	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.97183	0.9852	9	.	.	.	-3.671	15.7749	0.78207	0.0:0.0:0.0:1.0	.	41	P48047	ATPO_HUMAN	C	41	ENSP00000290299:Y41C	.	Y	-	2	0	ATP5O	34206539	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.564000	0.82326	2.266000	0.75297	0.455000	0.32223	TAT	ATP5O	-	pfam_ATPase_F1-cplx_OSCP/dsu,superfamily_ATPase_OSCP/delta_N,prints_ATPase_F1-cplx_OSCP/dsu,tigrfam_ATPase_F1-cplx_OSCP/dsu	ENSG00000241837		0.378	ATP5O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5O	HGNC	protein_coding	OTTHUMT00000139907.1	136	0.00	0	T	NM_001697		35284669	35284669	-1	no_errors	ENST00000290299	ensembl	human	known	69_37n	missense	79	28.18	31	SNP	1.000	C
ATP6V0A4	50617	genome.wustl.edu	37	7	138429870	138429870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:138429870C>T	ENST00000310018.2	-	14	1758	c.1476G>A	c.(1474-1476)tgG>tgA	p.W492*	ATP6V0A4_ENST00000393054.1_Nonsense_Mutation_p.W492*|ATP6V0A4_ENST00000353492.4_Nonsense_Mutation_p.W492*	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	492					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAACTCACTTCCATGTGCCGT	0.498																																						dbGAP											0													149.0	127.0	135.0					7																	138429870		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1476G>A	7.37:g.138429870C>T	ENSP00000308122:p.Trp492*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R4|A8KA80|Q32M47	Nonsense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.W492*	ENST00000310018.2	37	c.1476	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.728422	0.97792	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	.	.	.	5.69	5.69	0.88448	.	0.181808	0.40222	N	0.001150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3104	19.8215	0.96599	0.0:1.0:0.0:0.0	.	.	.	.	X	492	.	ENSP00000308122:W492X	W	-	3	0	ATP6V0A4	138080410	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	7.580000	0.82523	2.679000	0.91253	0.650000	0.86243	TGG	ATP6V0A4	-	pfam_ATPase_V0/A0_a	ENSG00000105929		0.498	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	193	0.00	0	C	NM_020632		138429870	138429870	-1	no_errors	ENST00000310018	ensembl	human	known	69_37n	nonsense	111	43.08	84	SNP	1.000	T
ATP6V1E2	90423	genome.wustl.edu	37	2	46739379	46739379	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:46739379T>C	ENST00000306448.4	-	2	1585	c.472A>G	c.(472-474)Att>Gtt	p.I158V	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.I158V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	158					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TTCTGGGAAATTGTCATGTAC	0.517																																						dbGAP											0													145.0	138.0	140.0					2																	46739379		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.472A>G	2.37:g.46739379T>C	ENSP00000304891:p.Ile158Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_V1/A1-cplx_esu	p.I158V	ENST00000306448.4	37	c.472	CCDS1826.1	2	.	.	.	.	.	.	.	.	.	.	T	0.873	-0.731319	0.03135	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.19	-0.928	0.10448	.	0.349382	0.32244	N	0.006361	T	0.16981	0.0408	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.07443	-1.0772	9	0.33940	T	0.23	-0.0092	0.6603	0.00842	0.1667:0.3412:0.1756:0.3166	.	158	Q96A05	VATE2_HUMAN	V	158	.	ENSP00000304891:I158V	I	-	1	0	ATP6V1E2	46592883	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.239000	0.08965	-0.199000	0.10317	-1.292000	0.01352	ATT	ATP6V1E2	-	pfam_ATPase_V1/A1-cplx_esu	ENSG00000250565		0.517	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E2	HGNC	protein_coding	OTTHUMT00000250753.1	179	0.56	1	T	NM_080653		46739379	46739379	-1	no_errors	ENST00000306448	ensembl	human	known	69_37n	missense	110	39.56	72	SNP	0.000	C
ATP8A1	10396	genome.wustl.edu	37	4	42526832	42526832	+	Silent	SNP	C	C	T	rs561646938	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:42526832C>T	ENST00000381668.5	-	21	1986	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	ATP8A1_ENST00000264449.10_Silent_p.T570T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	585					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTATTTTGACGTCTCTGCCA	0.318													C|||	5	0.000998403	0.0008	0.0	5008	,	,		18819	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0													107.0	102.0	104.0					4																	42526832		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1755G>A	4.37:g.42526832C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T585	ENST00000381668.5	37	c.1755	CCDS3466.1	4																																																																																			ATP8A1	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000124406		0.318	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	135	0.00	0	C	NM_006095		42526832	42526832	-1	no_errors	ENST00000381668	ensembl	human	known	69_37n	silent	57	34.48	30	SNP	0.985	T
ATP8A2	51761	genome.wustl.edu	37	13	26144957	26144957	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:26144957C>T	ENST00000381655.2	+	17	1668	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.T469M	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	469					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GTGTGCCACACGGTTGTTCCT	0.582																																						dbGAP											0													94.0	93.0	94.0					13																	26144957		2042	4187	6229	-	-	-	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1526C>T	13.37:g.26144957C>T	ENSP00000371070:p.Thr509Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.T509M	ENST00000381655.2	37	c.1526	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322964	0.81580	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.86694	-2.16;-2.16	5.0	5.0	0.66597	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.95840	0.8646	H	0.96748	3.875	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;1.0;1.0	D;D;D;D	0.81914	0.974;0.975;0.973;0.995	D	0.97208	0.9869	10	0.87932	D	0	.	17.2322	0.86988	0.0:1.0:0.0:0.0	.	469;289;469;469	B7Z880;F5GZN5;Q9NTI2-3;Q9NTI2	.;.;.;AT8A2_HUMAN	M	509;469;289	ENSP00000371070:T509M;ENSP00000255283:T469M	ENSP00000255283:T469M	T	+	2	0	ATP8A2	25042957	1.000000	0.71417	0.955000	0.39395	0.749000	0.42624	6.924000	0.75823	2.592000	0.87571	0.563000	0.77884	ACG	ATP8A2	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000132932		0.582	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	101	0.00	0	C	NM_016529		26144957	26144957	+1	no_errors	ENST00000381655	ensembl	human	known	69_37n	missense	88	33.83	45	SNP	1.000	T
ATP8B2	57198	genome.wustl.edu	37	1	154317493	154317493	+	Missense_Mutation	SNP	C	C	T	rs530459501		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:154317493C>T	ENST00000368489.3	+	22	2432	c.2432C>T	c.(2431-2433)gCg>gTg	p.A811V		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	797					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGAGACAGCGTGTGCCTGC	0.577											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		19965	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													101.0	101.0	101.0					1																	154317493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2432C>T	1.37:g.154317493C>T	ENSP00000357475:p.Ala811Val	Somatic	1762	WXS	Illumina GAIIx	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A811V	ENST00000368489.3	37	c.2432	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951095	0.73787	.	.	ENSG00000143515	ENST00000368489	D	0.86230	-2.09	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.92977	0.7765	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93021	0.6440	10	0.62326	D	0.03	.	17.6312	0.88108	0.0:1.0:0.0:0.0	.	811	P98198-3	.	V	811	ENSP00000357475:A811V	ENSP00000357475:A811V	A	+	2	0	ATP8B2	152584117	1.000000	0.71417	0.207000	0.23584	0.228000	0.25075	7.651000	0.83577	2.739000	0.93911	0.655000	0.94253	GCG	ATP8B2	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000143515		0.577	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	152	0.00	0	C	NM_020452		154317493	154317493	+1	no_errors	ENST00000368489	ensembl	human	known	69_37n	missense	142	26.80	52	SNP	1.000	T
ATP8B4	79895	genome.wustl.edu	37	15	50264962	50264963	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:50264962_50264963delTG	ENST00000284509.6	-	13	1200_1201	c.1059_1060delCA	c.(1057-1062)cacagtfs	p.HS353fs	ATP8B4_ENST00000559829.1_Frame_Shift_Del_p.HS353fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	353						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATAAAATAACTGTGTCCTAGAC	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1059_1060delCA	15.37:g.50264964_50264965delTG	ENSP00000284509:p.His353fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H727	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.H353fs	ENST00000284509.6	37	c.1060_1059	CCDS32238.1	15																																																																																			ATP8B4	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000104043		0.371	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	181	0.00	0	TG	NM_024837		50264962	50264963	-1	no_errors	ENST00000284509	ensembl	human	known	69_37n	frame_shift_del	85	33.07	42	DEL	1.000:0.997	-
ATR	545	genome.wustl.edu	37	3	142188331	142188331	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:142188331C>A	ENST00000350721.4	-	38	6521	c.6400G>T	c.(6400-6402)Gct>Tct	p.A2134S	ATR_ENST00000383101.3_Missense_Mutation_p.A2070S|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2134	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGATATGGAGCTAAATAGTTT	0.363								Other conserved DNA damage response genes																														dbGAP											0													127.0	139.0	135.0					3																	142188331		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6400G>T	3.37:g.142188331C>A	ENSP00000343741:p.Ala2134Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.A2134S	ENST00000350721.4	37	c.6400	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640396	0.29157	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.04862	3.54;4.05	5.15	4.25	0.50352	PIK-related kinase (1);	0.170036	0.51477	D	0.000098	T	0.04452	0.0122	N	0.12471	0.22	0.58432	D	0.999999	B	0.25563	0.129	B	0.18263	0.021	T	0.46596	-0.9180	10	0.27785	T	0.31	-6.4638	15.4691	0.75426	0.0:0.8606:0.1394:0.0	.	2134	Q13535	ATR_HUMAN	S	2134;2070	ENSP00000343741:A2134S;ENSP00000372581:A2070S	ENSP00000343741:A2134S	A	-	1	0	ATR	143671021	1.000000	0.71417	0.985000	0.45067	0.637000	0.38172	5.862000	0.69560	1.107000	0.41642	0.591000	0.81541	GCT	ATR	-	pfscan_PIK_FAT	ENSG00000175054		0.363	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	305	0.00	0	C	NM_001184		142188331	142188331	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	missense	160	42.65	119	SNP	1.000	A
ATRN	8455	genome.wustl.edu	37	20	3543051	3543051	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:3543051A>G	ENST00000262919.5	+	9	1644	c.1576A>G	c.(1576-1578)Aat>Gat	p.N526D	ATRN_ENST00000446916.2_Missense_Mutation_p.N526D	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	526					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTCAGTGCCAATAAGTACCG	0.488																																						dbGAP											0													228.0	195.0	206.0					20																	3543051		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1576A>G	20.37:g.3543051A>G	ENSP00000262919:p.Asn526Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.N526D	ENST00000262919.5	37	c.1576	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795452	0.90453	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.71461	-0.57;-0.09	4.65	4.65	0.58169	Kelch-type beta propeller (1);	0.045227	0.85682	D	0.000000	T	0.79470	0.4451	M	0.66939	2.045	0.58432	D	0.999995	P;D	0.59767	0.943;0.986	P;P	0.60012	0.867;0.616	T	0.80094	-0.1526	10	0.44086	T	0.13	-15.1355	13.8787	0.63670	1.0:0.0:0.0:0.0	.	526;526	O75882;O75882-2	ATRN_HUMAN;.	D	526;526;452	ENSP00000262919:N526D;ENSP00000416587:N526D	ENSP00000262919:N526D	N	+	1	0	ATRN	3491051	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.101000	0.94219	1.936000	0.56123	0.482000	0.46254	AAT	ATRN	-	NULL	ENSG00000088812		0.488	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	212	0.00	0	A	NM_139321		3543051	3543051	+1	no_errors	ENST00000262919	ensembl	human	known	69_37n	missense	106	43.32	81	SNP	1.000	G
AUTS2	26053	genome.wustl.edu	37	7	70236366	70236366	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:70236366C>T	ENST00000342771.4	+	11	2055				AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2											breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TTAAGTTACACATTCGTGGCA	0.408																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1735-169C>T	7.37:g.70236366C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	RNA	SNP	-	NULL	ENST00000342771.4	37	NULL	CCDS5539.1	7																																																																																			AUTS2	-	-	ENSG00000158321		0.408	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	26	0.00	0	C			70236366	70236366	+1	no_errors	ENST00000483297	ensembl	human	known	69_37n	rna	12	58.62	17	SNP	1.000	T
BAIAP2L1	55971	genome.wustl.edu	37	7	97944810	97944810	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:97944810A>G	ENST00000005260.8	-	7	816	c.601T>C	c.(601-603)Tgt>Cgt	p.C201R	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	201	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GCAAAGCCACAGTGCTTATCA	0.413																																						dbGAP											0													132.0	131.0	131.0					7																	97944810		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.601T>C	7.37:g.97944810A>G	ENSP00000005260:p.Cys201Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.C201R	ENST00000005260.8	37	c.601	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109195	0.77096	.	.	ENSG00000006453	ENST00000005260	T	0.28666	1.6	5.46	5.46	0.80206	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58340	-0.7653	10	0.13853	T	0.58	-4.7217	15.0142	0.71570	1.0:0.0:0.0:0.0	.	201	Q9UHR4	BI2L1_HUMAN	R	201	ENSP00000005260:C201R	ENSP00000005260:C201R	C	-	1	0	AC093799.1	97782746	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	8.910000	0.92685	2.206000	0.71126	0.533000	0.62120	TGT	BAIAP2L1	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000006453		0.413	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	269	0.00	0	A	NM_018842		97944810	97944810	-1	no_errors	ENST00000005260	ensembl	human	known	69_37n	missense	212	34.77	113	SNP	1.000	G
BAX	581	genome.wustl.edu	37	19	49458971	49458971	+	Frame_Shift_Del	DEL	G	G	-	rs141306106|rs398122842|rs398122841		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:49458971delG	ENST00000345358.7	+	3	166	c.114delG	c.(112-114)atgfs	p.M38fs	BAX_ENST00000415969.2_Frame_Shift_Del_p.M38fs|BAX_ENST00000391871.3_Frame_Shift_Del_p.W21fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000293288.8_Frame_Shift_Del_p.M38fs|BAX_ENST00000539787.1_Frame_Shift_Del_p.M38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CAGGGCGAATGGGGGGGGAGG	0.592																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)											59.0	57.0	57.0					19																	49458971		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.114delG	19.37:g.49458971delG	ENSP00000263262:p.Met38fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Del	DEL	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.E41fs	ENST00000345358.7	37	c.114	CCDS12742.1	19																																																																																			BAX	-	NULL	ENSG00000087088		0.592	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	47	0.00	0	G	NM_138763		49458971	49458971	+1	no_errors	ENST00000293288	ensembl	human	known	69_37n	frame_shift_del	31	39.62	21	DEL	0.588	-
BAZ1B	9031	genome.wustl.edu	37	7	72913005	72913005	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:72913005C>T	ENST00000339594.4	-	4	731	c.393G>A	c.(391-393)aaG>aaA	p.K131K	BAZ1B_ENST00000404251.1_Silent_p.K131K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	131	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAATCTTCACCTTGAGCATTT	0.398																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													88.0	83.0	85.0					7																	72913005		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.393G>A	7.37:g.72913005C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.K131	ENST00000339594.4	37	c.393	CCDS5549.1	7																																																																																			BAZ1B	-	NULL	ENSG00000009954		0.398	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	354	0.00	0	C	NM_032408		72913005	72913005	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	silent	222	40.74	154	SNP	0.816	T
BCLAF1	9774	genome.wustl.edu	37	6	136593209	136593209	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:136593209T>A	ENST00000531224.1	-	8	2219	c.1967A>T	c.(1966-1968)gAc>gTc	p.D656V	BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D656V|BCLAF1_ENST00000529917.1_5'Flank|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D654V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D483V|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D654V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D654V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	656					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGGTGAGATGTCAATTCTCCT	0.299																																					Colon(142;1534 1789 5427 7063 28491)	dbGAP											0													68.0	68.0	68.0					6																	136593209		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1967A>T	6.37:g.136593209T>A	ENSP00000435210:p.Asp656Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.D656V	ENST00000531224.1	37	c.1967	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	T	21.4	4.147861	0.78001	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000004	T	0.60366	0.2263	M	0.66439	2.03	0.80722	D	1	P;P;P;P	0.48162	0.776;0.906;0.776;0.75	P;P;P;B	0.48815	0.591;0.513;0.591;0.168	T	0.68341	-0.5434	10	0.87932	D	0	-8.0607	15.062	0.71961	0.0:0.0:0.0:1.0	.	654;654;656;483	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	V	656;654;656;483;654;654;655	ENSP00000435210:D656V;ENSP00000229446:D654V;ENSP00000435441:D656V;ENSP00000436501:D483V;ENSP00000434826:D654V;ENSP00000376159:D654V;ENSP00000431734:D655V	ENSP00000229446:D654V	D	-	2	0	BCLAF1	136634902	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.619000	0.74219	2.022000	0.59522	0.477000	0.44152	GAC	BCLAF1	-	NULL	ENSG00000029363		0.299	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	104	0.00	0	T	NM_014739		136593209	136593209	-1	no_errors	ENST00000531224	ensembl	human	known	69_37n	missense	84	32.80	41	SNP	1.000	A
BEST3	144453	genome.wustl.edu	37	12	70049283	70049283	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:70049283T>C	ENST00000330891.5	-	10	1637	c.1411A>G	c.(1411-1413)Acc>Gcc	p.T471A	BEST3_ENST00000553096.1_Missense_Mutation_p.T365A|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.T258A	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	471					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCCCTGATGGTGGACAGCTCT	0.567																																						dbGAP											0													96.0	101.0	99.0					12																	70049283		2050	4192	6242	-	-	-	SO:0001583	missense	0			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1411A>G	12.37:g.70049283T>C	ENSP00000332413:p.Thr471Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.T471A	ENST00000330891.5	37	c.1411	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134168	0.37630	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97976	-4.33;-4.64;-4.61	5.5	2.71	0.32032	.	1.501660	0.03426	N	0.207039	D	0.95598	0.8569	M	0.65975	2.015	0.24087	N	0.995928	B;B	0.34372	0.451;0.451	B;B	0.30179	0.112;0.112	D	0.86569	0.1846	10	0.08179	T	0.78	-8.3871	6.9083	0.24321	0.0:0.0861:0.2804:0.6335	.	471;258	Q8N1M1;B5MDI8	BEST3_HUMAN;.	A	258;471;365	ENSP00000433213:T258A;ENSP00000332413:T471A;ENSP00000449548:T365A	ENSP00000332413:T471A	T	-	1	0	BEST3	68335550	0.997000	0.39634	0.957000	0.39632	0.825000	0.46686	1.807000	0.38902	0.861000	0.35504	0.460000	0.39030	ACC	BEST3	-	NULL	ENSG00000127325		0.567	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	188	0.00	0	T	NM_152439		70049283	70049283	-1	no_errors	ENST00000330891	ensembl	human	known	69_37n	missense	137	39.91	91	SNP	0.187	C
BIRC6	57448	genome.wustl.edu	37	2	32631603	32631603	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:32631603T>C	ENST00000421745.2	+	9	1589	c.1455T>C	c.(1453-1455)caT>caC	p.H485H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	485					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGAAGAGCATTCCAGATCAG	0.294																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													75.0	82.0	80.0					2																	32631603		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1455T>C	2.37:g.32631603T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.H485	ENST00000421745.2	37	c.1455	CCDS33175.2	2																																																																																			BIRC6	-	NULL	ENSG00000115760		0.294	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	129	0.00	0	T	NM_016252		32631603	32631603	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	silent	60	37.76	37	SNP	1.000	C
BLMH	642	genome.wustl.edu	37	17	28599826	28599826	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:28599826G>T	ENST00000261714.6	-	8	1067	c.893C>A	c.(892-894)aCt>aAt	p.T298N	BLMH_ENST00000394819.3_Missense_Mutation_p.T211N|BLMH_ENST00000582669.1_5'Flank	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	298					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GTTGTATAGAGTTTTTCTCCC	0.413																																					Pancreas(127;628 1772 12912 33293 36203)	dbGAP											0													201.0	190.0	194.0					17																	28599826		2203	4300	6503	-	-	-	SO:0001583	missense	0			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.893C>A	17.37:g.28599826G>T	ENSP00000261714:p.Thr298Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R796|Q53F86|Q9UER9	Missense_Mutation	SNP	pfam_Peptidase_C1B,pirsf_Peptidase_C1B	p.T298N	ENST00000261714.6	37	c.893	CCDS32604.1	17	.	.	.	.	.	.	.	.	.	.	G	30	5.054680	0.93793	.	.	ENSG00000108578	ENST00000261714;ENST00000394819	T;T	0.43688	0.94;0.94	5.67	5.67	0.87782	.	0.089158	0.85682	D	0.000000	T	0.59432	0.2193	L	0.60455	1.87	0.54753	D	0.999988	B;B	0.31026	0.24;0.304	P;P	0.50109	0.631;0.505	T	0.60606	-0.7230	10	0.87932	D	0	-7.8688	16.9941	0.86362	0.0:0.0:1.0:0.0	.	211;298	E7EMN3;Q13867	.;BLMH_HUMAN	N	298;211	ENSP00000261714:T298N;ENSP00000378296:T211N	ENSP00000261714:T298N	T	-	2	0	BLMH	25623952	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.476000	0.97823	2.683000	0.91414	0.650000	0.86243	ACT	BLMH	-	pfam_Peptidase_C1B,pirsf_Peptidase_C1B	ENSG00000108578		0.413	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLMH	HGNC	protein_coding	OTTHUMT00000447940.1	252	0.39	1	G	NM_000386		28599826	28599826	-1	no_errors	ENST00000261714	ensembl	human	known	69_37n	missense	118	48.25	110	SNP	1.000	T
BMP1	649	genome.wustl.edu	37	8	22033756	22033756	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:22033756G>A	ENST00000306385.5	+	3	1033	c.363G>A	c.(361-363)gcG>gcA	p.A121A	BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000306349.8_Silent_p.A121A|BMP1_ENST00000397814.3_Silent_p.A121A|BMP1_ENST00000354870.5_Silent_p.A121A|BMP1_ENST00000397816.3_Silent_p.A121A	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	121	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCCGGCGGGCGGCGACGTCCC	0.622																																						dbGAP											0													79.0	70.0	73.0					8																	22033756		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.363G>A	8.37:g.22033756G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom	p.A121	ENST00000306385.5	37	c.363	CCDS6026.1	8																																																																																			BMP1	-	pirsf_BMP_1/tolloid-like	ENSG00000168487		0.622	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	45	0.00	0	G	NM_006132		22033756	22033756	+1	no_errors	ENST00000306385	ensembl	human	known	69_37n	silent	21	40.00	14	SNP	0.924	A
BMPR1B	658	genome.wustl.edu	37	4	96045048	96045048	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:96045048G>A	ENST00000515059.1	+	7	720	c.437G>A	c.(436-438)tGt>tAt	p.C146Y	BMPR1B_ENST00000394931.1_Missense_Mutation_p.C146Y|BMPR1B_ENST00000440890.2_Missense_Mutation_p.C176Y|BMPR1B_ENST00000264568.4_Missense_Mutation_p.C146Y	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	146					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATATTATTTTGTTACTTCCGG	0.318																																						dbGAP											0													172.0	167.0	169.0					4																	96045048		2203	4298	6501	-	-	-	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.437G>A	4.37:g.96045048G>A	ENSP00000426617:p.Cys146Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.C176Y	ENST00000515059.1	37	c.527	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759080	0.49468	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.7;-1.71;-1.71	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	M	0.78049	2.395	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78907	-0.2019	10	0.38643	T	0.18	.	16.0834	0.81020	0.0:0.0:0.8657:0.1343	.	146	O00238	BMR1B_HUMAN	Y	146;146;146;176;146;146	ENSP00000426617:C146Y;ENSP00000425444:C146Y;ENSP00000421671:C146Y;ENSP00000401907:C176Y;ENSP00000264568:C146Y;ENSP00000378389:C146Y	ENSP00000264568:C146Y	C	+	2	0	BMPR1B	96264071	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.826000	0.62715	2.685000	0.91497	0.650000	0.86243	TGT	BMPR1B	-	NULL	ENSG00000138696		0.318	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	423	0.00	0	G	NM_001203		96045048	96045048	+1	no_errors	ENST00000440890	ensembl	human	known	69_37n	missense	195	42.82	146	SNP	1.000	A
BMX	660	genome.wustl.edu	37	X	15536090	15536090	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:15536090A>G	ENST00000357607.2	+	6	672	c.484A>G	c.(484-486)Aga>Gga	p.R162G	BMX_ENST00000348343.6_Missense_Mutation_p.R162G|BMX_ENST00000342014.6_Missense_Mutation_p.R162G			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	162					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGAGAAACACAGAGTTCCCAC	0.343																																						dbGAP											0													124.0	107.0	112.0					X																	15536090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.484A>G	X.37:g.15536090A>G	ENSP00000350224:p.Arg162Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.R162G	ENST00000357607.2	37	c.484	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	A	1.995	-0.430770	0.04669	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.76578	-1.03;-1.03;-1.03	4.31	3.15	0.36227	.	0.360646	0.24231	N	0.040347	T	0.54598	0.1868	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45323	-0.9269	10	0.46703	T	0.11	.	5.7054	0.17905	0.8792:0.0:0.1208:0.0	.	162	P51813	BMX_HUMAN	G	162	ENSP00000350224:R162G;ENSP00000308774:R162G;ENSP00000340082:R162G	ENSP00000340082:R162G	R	+	1	2	BMX	15446011	0.033000	0.19621	0.055000	0.19348	0.230000	0.25150	2.414000	0.44627	0.795000	0.33922	0.486000	0.48141	AGA	BMX	-	NULL	ENSG00000102010		0.343	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	338	0.00	0	A	NM_001721		15536090	15536090	+1	no_errors	ENST00000342014	ensembl	human	known	69_37n	missense	163	32.92	80	SNP	0.065	G
BOLL	66037	genome.wustl.edu	37	2	198641793	198641794	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:198641793_198641794insT	ENST00000392296.4	-	4	574_575	c.265_266insA	c.(265-267)attfs	p.I89fs	BOLL_ENST00000282278.8_Intron|BOLL_ENST00000321801.7_Frame_Shift_Ins_p.I101fs|BOLL_ENST00000433157.1_Frame_Shift_Ins_p.I89fs|BOLL_ENST00000430004.1_Frame_Shift_Ins_p.I89fs	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	89	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CTCTTGTAAAATTTTTTGTGCA	0.257																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.266dupA	2.37:g.198641799_198641799dupT	ENSP00000376116:p.Ile89fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZA4|Q0JW32|Q53T62|Q969U3	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.I101fs	ENST00000392296.4	37	c.302_301	CCDS2325.1	2																																																																																			BOLL	-	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	ENSG00000152430		0.257	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	73	0.00	0	-	NM_033030		198641793	198641794	-1	no_errors	ENST00000321801	ensembl	human	known	69_37n	frame_shift_ins	44	30.16	19	INS	1.000:1.000	T
BRCC3	79184	genome.wustl.edu	37	X	154344339	154344339	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:154344339A>T	ENST00000369462.1	+	9	656	c.631A>T	c.(631-633)Aga>Tga	p.R211*	BRCC3_ENST00000369459.2_Intron|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Nonsense_Mutation_p.R211*|BRCC3_ENST00000330045.7_Nonsense_Mutation_p.R186*|BRCC3_ENST00000340647.4_Nonsense_Mutation_p.R187*	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	211					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGTATGAGAGAATCGAAAT	0.433																																						dbGAP											0													84.0	71.0	76.0					X																	154344339		1928	4114	6042	-	-	-	SO:0001587	stop_gained	0			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.631A>T	X.37:g.154344339A>T	ENSP00000358474:p.Arg211*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Nonsense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.R211*	ENST00000369462.1	37	c.631	CCDS56611.1	X	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460583	0.84317	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369462;ENST00000411985;ENST00000399042	.	.	.	4.68	3.41	0.39046	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1272	8.9666	0.35881	0.6884:0.3115:0.0:0.0	.	.	.	.	X	187;186;211;187;211	.	ENSP00000328641:R186X	R	+	1	2	BRCC3	153997533	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.658000	0.46733	1.805000	0.52779	0.481000	0.45027	AGA	BRCC3	-	NULL	ENSG00000185515		0.433	BRCC3-001	KNOWN	basic|CCDS	protein_coding	BRCC3	HGNC	protein_coding	OTTHUMT00000058788.4	87	0.00	0	A	NM_024332		154344339	154344339	+1	no_errors	ENST00000399042	ensembl	human	known	69_37n	nonsense	52	45.26	43	SNP	1.000	T
BTBD7	55727	genome.wustl.edu	37	14	93708687	93708687	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:93708687C>T	ENST00000334746.5	-	11	3638	c.3331G>A	c.(3331-3333)Gat>Aat	p.D1111N	BTBD7_ENST00000554565.1_Missense_Mutation_p.D760N|BTBD7_ENST00000393170.2_Missense_Mutation_p.D685N	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1111					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CTTATTGAATCTTCCCTTTCC	0.512																																						dbGAP											0													131.0	108.0	116.0					14																	93708687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3331G>A	14.37:g.93708687C>T	ENSP00000335615:p.Asp1111Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.D1111N	ENST00000334746.5	37	c.3331	CCDS32146.1	14	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645724	0.87958	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.52057	1.02;0.68	6.05	6.05	0.98169	.	0.133715	0.64402	D	0.000002	T	0.46112	0.1376	N	0.19112	0.55	0.58432	D	0.999999	P;P;B	0.46142	0.873;0.873;0.319	P;B;B	0.47346	0.544;0.426;0.18	T	0.46373	-0.9196	10	0.72032	D	0.01	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	685;760;1111	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	N	1111;760;726;685	ENSP00000335615:D1111N;ENSP00000451010:D760N	ENSP00000335615:D1111N	D	-	1	0	BTBD7	92778440	1.000000	0.71417	0.954000	0.39281	0.805000	0.45488	7.456000	0.80751	2.880000	0.98712	0.655000	0.94253	GAT	BTBD7	-	NULL	ENSG00000011114		0.512	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	123	0.00	0	C	NM_001002860		93708687	93708687	-1	no_errors	ENST00000334746	ensembl	human	known	69_37n	missense	73	39.17	47	SNP	1.000	T
C11orf48	79081	genome.wustl.edu	37	11	62437499	62437499	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:62437499G>A	ENST00000431002.2	-	1	1738	c.5C>T	c.(4-6)gCc>gTc	p.A2V	C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000532208.1_Missense_Mutation_p.A2V|C11orf48_ENST00000354588.3_Missense_Mutation_p.A2V|C11orf83_ENST00000377953.3_5'Flank			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	2										endometrium(1)|lung(5)|urinary_tract(1)	7						TGGCACAAGGGCCATGGTGGT	0.537																																						dbGAP											0													63.0	58.0	60.0					11																	62437499		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.5C>T	11.37:g.62437499G>A	ENSP00000416856:p.Ala2Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96NA4	Missense_Mutation	SNP	NULL	p.A2V	ENST00000431002.2	37	c.5		11	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502675	0.44455	.	.	ENSG00000162194	ENST00000354588;ENST00000431002;ENST00000532208;ENST00000526490	.	.	.	4.36	3.42	0.39159	.	0.425779	0.17321	N	0.178484	T	0.54398	0.1856	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.70935	0.971;0.884	T	0.56475	-0.7973	9	0.87932	D	0	-2.0269	9.449	0.38714	0.0:0.0:0.759:0.241	.	2;2	B4DYP8;Q9BQE6-2	.;.	V	2	.	ENSP00000346600:A2V	A	-	2	0	C11orf48	62194075	0.999000	0.42202	0.998000	0.56505	0.720000	0.41350	2.580000	0.46068	1.106000	0.41623	0.467000	0.42956	GCC	C11orf48	-	NULL	ENSG00000162194		0.537	C11orf48-004	KNOWN	basic	protein_coding	C11orf48	HGNC	protein_coding	OTTHUMT00000395233.1	51	0.00	0	G	NM_024099		62437499	62437499	-1	no_errors	ENST00000431002	ensembl	human	known	69_37n	missense	47	41.98	34	SNP	0.999	A
C11orf30	56946	genome.wustl.edu	37	11	76158040	76158040	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:76158040C>G	ENST00000529032.1	+	1	58	c.58C>G	c.(58-60)Ctt>Gtt	p.L20V	RP11-111M22.3_ENST00000572035.1_lincRNA|C11orf30_ENST00000334736.3_Missense_Mutation_p.L20V|C11orf30_ENST00000533248.1_Missense_Mutation_p.L20V|C11orf30_ENST00000533988.1_Missense_Mutation_p.L20V|C11orf30_ENST00000525038.1_Missense_Mutation_p.L20V|C11orf30_ENST00000524490.1_Missense_Mutation_p.L20V|C11orf30_ENST00000525919.1_Missense_Mutation_p.L20V|C11orf30_ENST00000343878.3_Missense_Mutation_p.L20V|C11orf30_ENST00000524767.1_Missense_Mutation_p.L20V|C11orf30_ENST00000525959.1_3'UTR			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	20	ENT. {ECO:0000255|PROSITE- ProRule:PRU00476}.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAAAAGAATTCTTCGAAAATT	0.443																																						dbGAP											0													154.0	137.0	143.0					11																	76158040		2200	4292	6492	-	-	-	SO:0001583	missense	0			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.58C>G	11.37:g.76158040C>G	ENSP00000432327:p.Leu20Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	pfam_ENT_N,pfscan_ENT_N	p.L20V	ENST00000529032.1	37	c.58	CCDS8244.1	11	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774567	0.70107	.	.	ENSG00000158636	ENST00000533988;ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000533972;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.06	6.06	0.98353	EMSY N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	L	0.49571	1.57	0.80722	D	1	D;D;D;D;D;D;D;D;P	0.65815	0.968;0.968;0.968;0.984;0.984;0.995;0.968;0.995;0.818	D;D;D;D;D;D;D;D;P	0.81914	0.957;0.957;0.957;0.951;0.951;0.995;0.957;0.995;0.871	T	0.76443	-0.2957	9	0.87932	D	0	-6.3862	19.3923	0.94587	0.0:1.0:0.0:0.0	.	20;20;20;20;20;20;20;20;20	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	V	20	.	ENSP00000334130:L20V	L	+	1	0	C11orf30	75835688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.500000	0.73687	2.882000	0.98803	0.655000	0.94253	CTT	C11orf30	-	pfam_ENT_N,pfscan_ENT_N	ENSG00000158636		0.443	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	115	0.00	0	C	NM_020193		76158040	76158040	+1	no_errors	ENST00000334736	ensembl	human	known	69_37n	missense	58	47.75	53	SNP	1.000	G
DDIAS	220042	genome.wustl.edu	37	11	82645258	82645258	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:82645258C>T	ENST00000533655.1	+	6	3090	c.2878C>T	c.(2878-2880)Cac>Tac	p.H960Y	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.H960Y|C11orf82_ENST00000329143.3_Missense_Mutation_p.H659Y	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		960					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACCTCAGCTGCACCCTATTCT	0.413																																						dbGAP											0													68.0	68.0	68.0					11																	82645258		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000533655.1:c.2878C>T	11.37:g.82645258C>T	ENSP00000435421:p.His960Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LK6|Q9H856	Missense_Mutation	SNP	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like	p.H960Y	ENST00000533655.1	37	c.2878	CCDS8263.1	11	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.982886	0.00448	.	.	ENSG00000165490	ENST00000430323;ENST00000533655;ENST00000329143	T;T;T	0.18016	2.5;2.5;2.24	1.42	-2.83	0.05769	.	0.973239	0.08436	N	0.946211	T	0.04227	0.0117	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37244	-0.9714	9	.	.	.	4.7333	0.2533	0.00208	0.2061:0.2127:0.2058:0.3754	.	960	Q8IXT1	NOXIN_HUMAN	Y	960;960;659	ENSP00000414687:H960Y;ENSP00000435421:H960Y;ENSP00000329930:H659Y	.	H	+	1	0	C11orf82	82322906	0.002000	0.14202	0.021000	0.16686	0.082000	0.17680	0.140000	0.16056	-0.905000	0.03871	-0.905000	0.02835	CAC	C11orf82	-	NULL	ENSG00000165490		0.413	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf82	HGNC	protein_coding	OTTHUMT00000391936.1	204	0.00	0	C			82645258	82645258	+1	no_errors	ENST00000430323	ensembl	human	known	69_37n	missense	89	43.67	69	SNP	0.002	T
C11orf65	160140	genome.wustl.edu	37	11	108276182	108276182	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:108276182A>G	ENST00000529391.1	-	5	543	c.534T>C	c.(532-534)ctT>ctC	p.L178L	C11orf65_ENST00000526725.1_5'UTR|C11orf65_ENST00000393084.1_Silent_p.L178L|C11orf65_ENST00000525729.1_Silent_p.L129L			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	178										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		CTATTTTTCTAAGTTTTCTTT	0.338																																						dbGAP											0													119.0	117.0	118.0					11																	108276182		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.534T>C	11.37:g.108276182A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZU4|Q6PCA8	Missense_Mutation	SNP	NULL	p.L10S	ENST00000529391.1	37	c.29	CCDS8340.1	11	.	.	.	.	.	.	.	.	.	.	A	8.886	0.952898	0.18431	.	.	ENSG00000166323	ENST00000524755	T	0.29655	1.56	5.18	3.97	0.46021	.	0.541635	0.17997	N	0.155020	T	0.34861	0.0912	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03750	-1.1007	7	0.30078	T	0.28	-12.5353	10.1387	0.42723	0.8324:0.1676:0.0:0.0	.	.	.	.	S	10	ENSP00000432827:L10S	ENSP00000432827:L10S	L	-	2	0	C11orf65	107781392	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.180000	0.32005	2.073000	0.62155	0.460000	0.39030	TTA	C11orf65	-	NULL	ENSG00000166323		0.338	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf65	HGNC	protein_coding	OTTHUMT00000390010.3	137	0.00	0	A	NM_152587		108276182	108276182	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000524755	ensembl	human	putative	69_37n	missense	79	41.91	57	SNP	1.000	G
C11orf88	399949	genome.wustl.edu	37	11	111385651	111385651	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:111385651delC	ENST00000375618.4	+	1	142	c.142delC	c.(142-144)cccfs	p.P49fs	C11orf88_ENST00000332814.6_Frame_Shift_Del_p.P49fs|MIR34B_ENST00000385076.1_RNA|C11orf88_ENST00000529167.1_Frame_Shift_Del_p.P49fs|RP11-794P6.6_ENST00000530283.1_RNA|BTG4_ENST00000356018.2_5'Flank|BTG4_ENST00000525791.1_5'Flank|MIR34C_ENST00000384831.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	49										endometrium(1)|large_intestine(3)|lung(2)	6						GTCGATGTATCCCCCTAGCGA	0.597											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													62.0	69.0	67.0					11																	111385651		2106	4248	6354	-	-	-	SO:0001589	frameshift_variant	0			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.142delC	11.37:g.111385651delC	ENSP00000364768:p.Pro49fs	Somatic	1434	WXS	Illumina GAIIx	Phase_IV	E9PAN0|Q6ZRL3	Frame_Shift_Del	DEL	NULL	p.P49fs	ENST00000375618.4	37	c.142	CCDS41713.1	11																																																																																			C11orf88	-	NULL	ENSG00000183644		0.597	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf88	HGNC	protein_coding	OTTHUMT00000391181.1	46	0.00	0	C	NM_001100388		111385651	111385651	+1	no_errors	ENST00000529167	ensembl	human	known	69_37n	frame_shift_del	30	33.33	15	DEL	0.891	-
CFAP54	144535	genome.wustl.edu	37	12	97043730	97043733	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:97043730_97043733delACAA	ENST00000524981.4	+	35	4775_4778	c.4752_4755delACAA	c.(4750-4755)acacaafs	p.TQ1584fs				Q96N23	CL055_HUMAN		201																	TGTCCAAGACACAAACAGTTTATG	0.299																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000524981.4:c.4752_4755delACAA	12.37:g.97043730_97043733delACAA	ENSP00000431759:p.Thr1584fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.T11fs	ENST00000524981.4	37	c.27_30		12																																																																																			C12orf55	-	NULL	ENSG00000188596		0.299	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	197	0.00	0	ACAA			97043730	97043733	+1	no_errors	ENST00000342887	ensembl	human	known	69_37n	frame_shift_del	96	34.46	51	DEL	0.000:0.000:0.000:0.000	-
C15orf27	123591	genome.wustl.edu	37	15	76452460	76452460	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:76452460G>A	ENST00000388942.3	+	5	683	c.407G>A	c.(406-408)gGc>gAc	p.G136D		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	136					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CAGTTTGCTGGCGTGATTCAC	0.537																																						dbGAP											0													307.0	323.0	318.0					15																	76452460		2176	4265	6441	-	-	-	SO:0001583	missense	0			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.407G>A	15.37:g.76452460G>A	ENSP00000373594:p.Gly136Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N993|Q96LL5	Nonsense_Mutation	SNP	NULL	p.W84*	ENST00000388942.3	37	c.252	CCDS10289.2	15	.	.	.	.	.	.	.	.	.	.	G	32	5.177548	0.94846	.	.	ENSG00000169758	ENST00000388942	D	0.97352	-4.35	5.84	4.92	0.64577	.	0.408927	0.23431	N	0.048260	D	0.95204	0.8445	L	0.48362	1.52	0.18873	N	0.999982	P	0.41188	0.741	B	0.40940	0.344	D	0.88973	0.3402	10	0.30078	T	0.28	-16.7392	16.2805	0.82673	0.0:0.1322:0.8678:0.0	.	136	Q2M3C6	CO027_HUMAN	D	136	ENSP00000373594:G136D	ENSP00000373594:G136D	G	+	2	0	C15orf27	74239515	0.998000	0.40836	0.003000	0.11579	0.962000	0.63368	7.210000	0.77924	1.438000	0.47492	0.563000	0.77884	GGC	C15orf27	-	NULL	ENSG00000169758		0.537	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C15orf27	HGNC	protein_coding	OTTHUMT00000286637.2	83	0.00	0	G	NM_152335		76452460	76452460	+1	no_errors	ENST00000561302	ensembl	human	known	69_37n	nonsense	51	38.55	32	SNP	0.143	A
C19orf73	55150	genome.wustl.edu	37	19	49622186	49622186	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:49622186G>A	ENST00000408991.2	-	1	211	c.94C>T	c.(94-96)Cct>Tct	p.P32S	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	32										large_intestine(1)|lung(2)	3						GCAGAATGAGGTGCCCTCGCC	0.682																																						dbGAP											0													25.0	29.0	28.0					19																	49622186		2008	4161	6169	-	-	-	SO:0001583	missense	0			AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.94C>T	19.37:g.49622186G>A	ENSP00000386230:p.Pro32Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSX4	Missense_Mutation	SNP	NULL	p.P32S	ENST00000408991.2	37	c.94	CCDS42589.1	19	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486154	0.44147	.	.	ENSG00000221916	ENST00000408991	T	0.56611	0.45	3.45	1.16	0.20824	.	.	.	.	.	T	0.43809	0.1264	N	0.08118	0	0.22629	N	0.998911	D	0.67145	0.996	P	0.62014	0.897	T	0.23404	-1.0189	9	0.87932	D	0	.	4.0873	0.09953	0.143:0.2455:0.6114:0.0	.	32	Q9NVV2	CS073_HUMAN	S	32	ENSP00000386230:P32S	ENSP00000386230:P32S	P	-	1	0	C19orf73	54313998	0.999000	0.42202	0.574000	0.28523	0.865000	0.49528	2.993000	0.49425	0.393000	0.25203	0.561000	0.74099	CCT	C19orf73	-	NULL	ENSG00000221916		0.682	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf73	HGNC	protein_coding	OTTHUMT00000466275.1	55	0.00	0	G	NM_018111		49622186	49622186	-1	no_errors	ENST00000408991	ensembl	human	known	69_37n	missense	39	45.83	33	SNP	0.964	A
C1S	716	genome.wustl.edu	37	12	7177805	7177805	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:7177805G>A	ENST00000406697.1	+	15	2545	c.1917G>A	c.(1915-1917)caG>caA	p.Q639Q	C1S_ENST00000402681.3_Silent_p.Q472Q|C1S_ENST00000360817.5_Silent_p.Q639Q|C1S_ENST00000328916.3_Silent_p.Q639Q			P09871	C1S_HUMAN	complement component 1, s subcomponent	639	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGCTGTACAGGATCCCAATG	0.532																																					GBM(156;750 1943 12971 24779 31015)	dbGAP											0													133.0	137.0	135.0					12																	7177805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1917G>A	12.37:g.7177805G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.Q639	ENST00000406697.1	37	c.1917	CCDS31735.1	12																																																																																			C1S	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000182326		0.532	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1S	HGNC	protein_coding	OTTHUMT00000317481.1	697	0.00	0	G	NM_001734		7177805	7177805	+1	no_errors	ENST00000328916	ensembl	human	known	69_37n	silent	377	41.64	269	SNP	0.000	A
C1R	715	genome.wustl.edu	37	12	7244145	7244145	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:7244145G>A	ENST00000542285.1	-	2	280	c.131C>T	c.(130-132)aCc>aTc	p.T44I				P00736	C1R_HUMAN	complement component 1, r subcomponent	45	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATCACAGTGGTTGTTTCAAA	0.517																																						dbGAP											0													71.0	74.0	73.0					12																	7244145		1957	4144	6101	-	-	-	SO:0001583	missense	0			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.131C>T	12.37:g.7244145G>A	ENSP00000438615:p.Thr44Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.T59I	ENST00000542285.1	37	c.176		12	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896200	0.72639	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233;ENST00000290575;ENST00000542285;ENST00000543835;ENST00000540242	T;T;T	0.35421	1.58;1.31;1.58	5.43	5.43	0.79202	CUB (5);	0.074606	0.56097	D	0.000036	T	0.60508	0.2274	.	.	.	0.80722	D	1	D;D;P	0.76494	0.999;0.996;0.789	D;D;P	0.72625	0.978;0.978;0.525	T	0.62110	-0.6923	9	0.66056	D	0.02	.	16.0091	0.80385	0.0:0.1436:0.8564:0.0	.	45;59;45	F5H2D0;B4DPQ0;P00736	.;.;C1R_HUMAN	I	45;59;45;59;44;45;45	ENSP00000438615:T44I;ENSP00000445285:T45I;ENSP00000442946:T45I	ENSP00000290575:T59I	T	-	2	0	C1R	7135286	1.000000	0.71417	0.995000	0.50966	0.869000	0.49853	1.440000	0.35024	2.825000	0.97269	0.655000	0.94253	ACC	C1R	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000159403		0.517	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	C1R	HGNC	protein_coding		34	0.00	0	G	NM_001733		7244145	7244145	-1	no_errors	ENST00000290575	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	1.000	A
PIFO	128344	genome.wustl.edu	37	1	111891153	111891153	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:111891153G>A	ENST00000369738.4	+	4	639	c.274G>A	c.(274-276)Gca>Aca	p.A92T	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Missense_Mutation_p.A59T	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	92					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										GACACCTCATGCAGGCAGGTA	0.368																																						dbGAP											0													200.0	219.0	213.0					1																	111891153		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.274G>A	1.37:g.111891153G>A	ENSP00000358753:p.Ala92Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	NULL	p.A92T	ENST00000369738.4	37	c.274	CCDS833.1	1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971721	0.34754	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.32272	1.95;1.46	4.3	3.38	0.38709	.	0.340502	0.25400	N	0.030948	T	0.09905	0.0243	L	0.29908	0.895	0.19300	N	0.999975	B;B	0.28933	0.228;0.137	B;B	0.27796	0.083;0.058	T	0.14035	-1.0487	10	0.72032	D	0.01	-1.9978	10.5868	0.45288	0.0:0.7911:0.2089:0.0	.	59;92	Q8TCI5-3;Q8TCI5	.;PIFO_HUMAN	T	92;59	ENSP00000358753:A92T;ENSP00000358752:A59T	ENSP00000358752:A59T	A	+	1	0	C1orf88	111692676	0.364000	0.24997	0.632000	0.29296	0.003000	0.03518	0.718000	0.25866	1.113000	0.41760	-0.519000	0.04390	GCA	C1orf88	-	NULL	ENSG00000173947		0.368	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf88	HGNC	protein_coding	OTTHUMT00000030718.1	572	0.17	1	G	NM_181643		111891153	111891153	+1	no_errors	ENST00000369738	ensembl	human	known	69_37n	missense	207	47.21	186	SNP	0.731	A
C2orf78	388960	genome.wustl.edu	37	2	74040626	74040626	+	Silent	SNP	A	A	G	rs143652281		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:74040626A>G	ENST00000409561.1	+	2	241	c.120A>G	c.(118-120)ttA>ttG	p.L40L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	40	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATACGTCTTTACCTGGAACTG	0.418																																						dbGAP											0													40.0	38.0	39.0					2																	74040626		1854	4091	5945	-	-	-	SO:0001819	synonymous_variant	0			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.120A>G	2.37:g.74040626A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L40	ENST00000409561.1	37	c.120	CCDS46338.1	2																																																																																			C2orf78	-	NULL	ENSG00000187833		0.418	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	81	0.00	0	A	NM_001080474		74040626	74040626	+1	no_errors	ENST00000409561	ensembl	human	novel	69_37n	silent	37	47.14	33	SNP	0.101	G
C2orf47	79568	genome.wustl.edu	37	2	200820861	200820861	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:200820861G>A	ENST00000392290.1	+	1	536	c.340G>A	c.(340-342)Gga>Aga	p.G114R	C2orf47_ENST00000295079.2_Missense_Mutation_p.G114R|TYW5_ENST00000354611.4_5'Flank|TYW5_ENST00000452512.2_5'Flank			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	114						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GATCGTCCTGGGATTCTCCAA	0.552																																						dbGAP											0													63.0	64.0	64.0					2																	200820861		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.340G>A	2.37:g.200820861G>A	ENSP00000376111:p.Gly114Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658V9|Q9H671	Nonsense_Mutation	SNP	NULL	p.W106*	ENST00000392290.1	37	c.318	CCDS2329.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.941930|4.941930	0.92526|0.92526	.|.	.|.	ENSG00000162972|ENSG00000162972	ENST00000295079;ENST00000392290|ENST00000435773	T;T|.	0.22336|.	1.96;1.96|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.047456|.	0.85682|.	D|.	0.000000|.	T|.	0.60314|.	0.2259|.	L|L	0.46157|0.46157	1.445|1.445	0.54753|0.54753	D|D	0.999988|0.999988	D|.	0.64830|.	0.994|.	P|.	0.62649|.	0.905|.	T|.	0.55730|.	-0.8095|.	10|.	0.44086|.	T|.	0.13|.	-48.2927|-48.2927	11.8693|11.8693	0.52511|0.52511	0.0669:0.1243:0.8088:0.0|0.0669:0.1243:0.8088:0.0	.|.	114|.	Q8WWC4|.	CB047_HUMAN|.	R|X	114|106	ENSP00000295079:G114R;ENSP00000376111:G114R|.	ENSP00000295079:G114R|.	G|W	+|+	1|3	0|0	C2orf47|C2orf47	200529106|200529106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	5.381000|5.381000	0.66208|0.66208	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GGA|TGG	C2orf47	-	NULL	ENSG00000162972		0.552	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf47	HGNC	protein_coding	OTTHUMT00000256146.1	61	0.00	0	G	NM_024520		200820861	200820861	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000435773	ensembl	human	putative	69_37n	nonsense	46	41.77	33	SNP	1.000	A
C3orf30	152405	genome.wustl.edu	37	3	118866274	118866274	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:118866274A>C	ENST00000295622.1	+	1	1278	c.1238A>C	c.(1237-1239)cAg>cCg	p.Q413P	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.Q18P	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	413										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ATGGAAACTCAGAATGCAACC	0.463																																						dbGAP											0													136.0	131.0	133.0					3																	118866274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1238A>C	3.37:g.118866274A>C	ENSP00000295622:p.Gln413Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.Q413P	ENST00000295622.1	37	c.1238	CCDS2984.1	3	.	.	.	.	.	.	.	.	.	.	A	10.05	1.245268	0.22796	.	.	ENSG00000163424;ENSG00000163424;ENSG00000251012	ENST00000295622;ENST00000470341;ENST00000490594	T;T	0.49432	2.65;0.78	4.49	3.35	0.38373	.	0.747078	0.12203	N	0.490057	T	0.36635	0.0974	L	0.36672	1.1	0.09310	N	1	B;P	0.47604	0.267;0.898	B;B	0.41332	0.152;0.354	T	0.19844	-1.0293	10	0.66056	D	0.02	-4.9444	6.8425	0.23971	0.8974:0.0:0.1026:0.0	.	413;413	E9PFE5;Q96M34	.;CC030_HUMAN	P	413;413;18	ENSP00000295622:Q413P;ENSP00000424708:Q18P	ENSP00000295622:Q413P	Q	+	2	0	C3orf30;RP11-484M3.5	120348964	0.006000	0.16342	0.002000	0.10522	0.008000	0.06430	2.220000	0.42908	1.063000	0.40649	0.533000	0.62120	CAG	C3orf30	-	NULL	ENSG00000163424		0.463	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	367	0.00	0	A	NM_152539		118866274	118866274	+1	no_errors	ENST00000295622	ensembl	human	known	69_37n	missense	123	46.52	107	SNP	0.003	C
MAATS1	89876	genome.wustl.edu	37	3	119465995	119465995	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:119465995T>C	ENST00000273390.5	+	15	2013	c.1936T>C	c.(1936-1938)Tac>Cac	p.Y646H	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	482						mitochondrion (GO:0005739)											TATAAGCTCCTACCTAGAAGA	0.373																																						dbGAP											0													108.0	104.0	105.0					3																	119465995		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1936T>C	3.37:g.119465995T>C	ENSP00000273390:p.Tyr646His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	superfamily_S-AdoMet_deCO2ase_core	p.Y646H	ENST00000273390.5	37	c.1936	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269636	0.80469	.	.	ENSG00000183833	ENST00000273390	T	0.42900	0.96	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.75563	-0.3274	10	0.66056	D	0.02	-8.5602	15.5509	0.76152	0.0:0.0:0.0:1.0	.	482;584;646	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	H	646	ENSP00000273390:Y646H	ENSP00000273390:Y646H	Y	+	1	0	C3orf15	120948685	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.215000	0.77966	2.075000	0.62263	0.482000	0.46254	TAC	C3orf15	-	NULL	ENSG00000183833		0.373	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf15	HGNC	protein_coding	OTTHUMT00000355222.1	182	0.00	0	T	NM_033364		119465995	119465995	+1	no_errors	ENST00000273390	ensembl	human	known	69_37n	missense	151	20.11	38	SNP	1.000	C
C4orf17	84103	genome.wustl.edu	37	4	100458875	100458875	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:100458875T>C	ENST00000326581.4	+	6	958	c.596T>C	c.(595-597)gTt>gCt	p.V199A	C4orf17_ENST00000514652.1_Missense_Mutation_p.V199A	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	199										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CTGGCAGAAGTTTTACAGTGG	0.363																																						dbGAP											0													129.0	122.0	124.0					4																	100458875		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.596T>C	4.37:g.100458875T>C	ENSP00000322582:p.Val199Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	NULL	p.V199A	ENST00000326581.4	37	c.596	CCDS3649.1	4	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247129	0.80024	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.26373	1.74;1.74	5.43	5.43	0.79202	.	0.187342	0.34555	N	0.003870	T	0.46171	0.1379	M	0.68952	2.095	0.34592	D	0.715603	D	0.69078	0.997	D	0.66084	0.941	T	0.62039	-0.6938	10	0.87932	D	0	-15.8526	11.7907	0.52068	0.0:0.0:0.0:1.0	.	199	Q53FE4	CD017_HUMAN	A	199	ENSP00000322582:V199A;ENSP00000427663:V199A	ENSP00000322582:V199A	V	+	2	0	C4orf17	100677898	0.998000	0.40836	0.998000	0.56505	0.910000	0.53928	3.580000	0.53907	2.279000	0.76181	0.533000	0.62120	GTT	C4orf17	-	NULL	ENSG00000138813		0.363	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf17	HGNC	protein_coding	OTTHUMT00000253670.2	179	0.00	0	T	NM_032149		100458875	100458875	+1	no_errors	ENST00000326581	ensembl	human	known	69_37n	missense	119	34.62	63	SNP	0.996	C
C5	727	genome.wustl.edu	37	9	123783971	123783971	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:123783971A>G	ENST00000223642.1	-	11	1147	c.1118T>C	c.(1117-1119)gTg>gCg	p.V373A		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	373					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTTAACCTGCACCTGTTTGTC	0.378																																						dbGAP											0													132.0	130.0	131.0					9																	123783971		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1117-1T>C	9.37:g.123783971A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.V373A	ENST00000223642.1	37	c.1118	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279511	0.40294	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.39592	1.07	5.97	4.8	0.61643	.	0.170741	0.50627	N	0.000105	T	0.32823	0.0842	L	0.43598	1.365	0.45295	D	0.99829	B;B	0.33512	0.415;0.012	B;B	0.36289	0.221;0.007	T	0.05053	-1.0909	10	0.08381	T	0.77	.	10.3461	0.43907	0.9251:0.0:0.0749:0.0	.	444;373	Q59GS8;P01031	.;CO5_HUMAN	A	373;444	ENSP00000223642:V373A	ENSP00000223642:V373A	V	-	2	0	C5	122823792	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.965000	0.63708	1.038000	0.40049	0.533000	0.62120	GTG	C5	-	NULL	ENSG00000106804		0.378	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	123	0.00	0	A	NM_001735	Missense_Mutation	123783971	123783971	-1	no_errors	ENST00000223642	ensembl	human	known	69_37n	missense	66	37.14	39	SNP	1.000	G
C6	729	genome.wustl.edu	37	5	41161878	41161878	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:41161878T>C	ENST00000263413.3	-	10	1639	c.1375A>G	c.(1375-1377)Aaa>Gaa	p.K459E	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.K459E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	459	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAGCTCCCTTTCTCCCATGCC	0.428																																						dbGAP											0													135.0	132.0	133.0					5																	41161878		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1375A>G	5.37:g.41161878T>C	ENSP00000263413:p.Lys459Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.K459E	ENST00000263413.3	37	c.1375	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	T	33	5.200261	0.94997	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.60672	0.17;0.17	5.35	5.35	0.76521	Membrane attack complex component/perforin (MACPF) domain (3);	0.135398	0.64402	D	0.000003	T	0.76673	0.4020	M	0.84585	2.705	0.51482	D	0.999925	D	0.59767	0.986	D	0.65323	0.934	T	0.78165	-0.2310	10	0.40728	T	0.16	-27.023	15.79	0.78350	0.0:0.0:0.0:1.0	.	459	P13671	CO6_HUMAN	E	459	ENSP00000338861:K459E;ENSP00000263413:K459E	ENSP00000263413:K459E	K	-	1	0	C6	41197635	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.019000	0.76412	2.371000	0.80710	0.533000	0.62120	AAA	C6	-	pfam_MACPF,smart_MACPF	ENSG00000039537		0.428	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	268	0.00	0	T			41161878	41161878	-1	no_errors	ENST00000263413	ensembl	human	known	69_37n	missense	145	41.30	102	SNP	1.000	C
C6	729	genome.wustl.edu	37	5	41172667	41172667	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:41172667C>T	ENST00000263413.3	-	9	1433				C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCGTGAGTGCCCATCATCTC	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1169-218G>A	5.37:g.41172667C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000263413.3	37	NULL	CCDS3936.1	5																																																																																			C6	-	-	ENSG00000039537		0.507	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	18	0.00	0	C			41172667	41172667	-1	no_errors	ENST00000473450	ensembl	human	known	69_37n	rna	10	28.57	4	SNP	0.000	T
ZBED8	63920	genome.wustl.edu	37	5	159821756	159821756	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:159821756T>C	ENST00000408953.3	-	2	1249	c.742A>G	c.(742-744)Atg>Gtg	p.M248V	C5orf54_ENST00000523213.1_Missense_Mutation_p.M248V	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						tctcctagcatagaggaggca	0.383																																						dbGAP											0													125.0	118.0	120.0					5																	159821756		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000408953.3:c.742A>G	5.37:g.159821756T>C	ENSP00000386184:p.Met248Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.M248V	ENST00000408953.3	37	c.742	CCDS34283.1	5	.	.	.	.	.	.	.	.	.	.	T	10.45	1.353679	0.24512	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.21191	2.02;2.02	2.84	0.333	0.15943	.	.	.	.	.	T	0.34658	0.0905	M	0.64170	1.965	0.21950	N	0.999457	D	0.67145	0.996	D	0.70935	0.971	T	0.13926	-1.0491	9	0.66056	D	0.02	.	3.1751	0.06566	0.0:0.1387:0.2478:0.6134	.	248	Q8IZ13	CE054_HUMAN	V	248	ENSP00000386184:M248V;ENSP00000428831:M248V	ENSP00000386184:M248V	M	-	1	0	C5orf54	159754334	0.822000	0.29219	0.992000	0.48379	0.925000	0.55904	0.006000	0.13152	0.073000	0.16731	-0.313000	0.08912	ATG	C5orf54	-	superfamily_RNaseH-like_dom	ENSG00000221886		0.383	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1	271	0.00	0	T			159821756	159821756	-1	no_errors	ENST00000408953	ensembl	human	known	69_37n	missense	91	48.30	85	SNP	0.994	C
CCDC180	100499483	genome.wustl.edu	37	9	100071718	100071718	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:100071718C>T	ENST00000357054.1	+	17	1576	c.641C>T	c.(640-642)gCg>gTg	p.A214V	CCDC180_ENST00000375202.2_Missense_Mutation_p.A75V|CCDC180_ENST00000411667.2_Missense_Mutation_p.A75V|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.A214V|CCDC180_ENST00000529487.1_Missense_Mutation_p.A75V|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	214						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CACTCCCTGGCGGCCACCAGG	0.597																																						dbGAP											0													51.0	51.0	51.0					9																	100071718		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.641C>T	9.37:g.100071718C>T	ENSP00000349562:p.Ala214Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.A75V	ENST00000357054.1	37	c.224		9	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288066	0.23478	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.19938	2.97;2.11;2.97;2.61;2.97	4.93	2.1	0.27182	.	0.329627	0.22583	N	0.058195	T	0.15609	0.0376	M	0.68317	2.08	0.26911	N	0.966886	P;P;P;P	0.45902	0.868;0.868;0.868;0.868	B;B;B;B	0.33568	0.166;0.166;0.166;0.166	T	0.18777	-1.0326	10	0.36615	T	0.2	-2.8436	4.8558	0.13559	0.1692:0.6504:0.0:0.1804	.	75;214;75;214	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	V	214;214;75;75;98;75	ENSP00000349562:A214V;ENSP00000378646:A214V;ENSP00000364348:A75V;ENSP00000414000:A75V;ENSP00000434727:A75V	ENSP00000349562:A214V	A	+	2	0	C9orf174	99111539	0.271000	0.24162	0.266000	0.24541	0.020000	0.10135	0.451000	0.21779	0.242000	0.21303	-0.226000	0.12346	GCG	C9orf174	-	NULL	ENSG00000197816		0.597	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		34	0.00	0	C	NM_020893		100071718	100071718	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	missense	16	57.89	22	SNP	0.494	T
CCDC180	100499483	genome.wustl.edu	37	9	100126397	100126397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:100126397delC	ENST00000357054.1	+	41	4869	c.3934delC	c.(3934-3936)cccfs	p.P1313fs	CCDC180_ENST00000375202.2_Frame_Shift_Del_p.P1368fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000529487.1_Frame_Shift_Del_p.P1368fs			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1313						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGACAAGCCTCCCCCTGCTGC	0.547																																						dbGAP											0													54.0	49.0	50.0					9																	100126397		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3934delC	9.37:g.100126397delC	ENSP00000349562:p.Pro1313fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Del	DEL	NULL	p.P1368fs	ENST00000357054.1	37	c.4099		9																																																																																			C9orf174	-	NULL	ENSG00000197816		0.547	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		55	0.00	0	C	NM_020893		100126397	100126397	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	frame_shift_del	29	44.44	24	DEL	0.000	-
C9orf43	257169	genome.wustl.edu	37	9	116191456	116191456	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:116191456T>C	ENST00000288462.4	+	14	1622	c.1176T>C	c.(1174-1176)ccT>ccC	p.P392P	C9orf43_ENST00000374165.1_Silent_p.P392P	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	392										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TTTTAGGTCCTGAATTGTATG	0.433																																						dbGAP											0													152.0	148.0	149.0					9																	116191456		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.1176T>C	9.37:g.116191456T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.P392	ENST00000288462.4	37	c.1176	CCDS6796.1	9																																																																																			C9orf43	-	NULL	ENSG00000157653		0.433	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	518	0.00	0	T	NM_152786		116191456	116191456	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	silent	335	38.08	206	SNP	0.001	C
CABLES2	81928	genome.wustl.edu	37	20	60969219	60969219	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:60969219G>A	ENST00000279101.5	-	5	716	c.708C>T	c.(706-708)gaC>gaT	p.D236D		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	236					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TTACCTTCCCGTCTGCTCCTA	0.642																																						dbGAP											0													95.0	85.0	89.0					20																	60969219		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.708C>T	20.37:g.60969219G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWL0|Q9BYK0	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	p.D236	ENST00000279101.5	37	c.708	CCDS33503.1	20																																																																																			CABLES2	-	pirsf_Cdk5/c-Abl_linker_Cables	ENSG00000149679		0.642	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABLES2	HGNC	protein_coding	OTTHUMT00000080027.2	16	0.00	0	G	XM_037265		60969219	60969219	-1	no_errors	ENST00000279101	ensembl	human	known	69_37n	silent	15	37.50	9	SNP	0.969	A
CALN1	83698	genome.wustl.edu	37	7	71252819	71252819	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:71252819A>G	ENST00000329008.5	-	6	899	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	CALN1_ENST00000395276.2_Missense_Mutation_p.F201L|CALN1_ENST00000395275.2_Missense_Mutation_p.F243L|CALN1_ENST00000431984.1_Missense_Mutation_p.F201L|CALN1_ENST00000412588.1_Missense_Mutation_p.F243L|CALN1_ENST00000405452.2_Missense_Mutation_p.F201L	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTGATGATGAAGGCCATAGCA	0.577																																						dbGAP											0													130.0	100.0	110.0					7																	71252819		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.601T>C	7.37:g.71252819A>G	ENSP00000332498:p.Phe201Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQA7	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F243L	ENST00000329008.5	37	c.727	CCDS5541.1	7	.	.	.	.	.	.	.	.	.	.	A	32	5.176900	0.94846	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80033	-1.07;-1.33;-1.07;-1.07;-1.33;-1.07	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	L	0.29908	0.895	0.53688	D	0.999974	D;D	0.71674	0.998;0.998	D;D	0.73380	0.98;0.98	D	0.85819	0.1384	10	0.87932	D	0	-0.3471	14.1058	0.65088	1.0:0.0:0.0:0.0	.	201;201	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	L	201;243;201;201;243;201	ENSP00000332498:F201L;ENSP00000378690:F243L;ENSP00000378691:F201L;ENSP00000410704:F201L;ENSP00000391882:F243L;ENSP00000384354:F201L	ENSP00000332498:F201L	F	-	1	0	CALN1	70890755	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.225000	0.95219	1.922000	0.55676	0.459000	0.35465	TTC	CALN1	-	NULL	ENSG00000183166		0.577	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CALN1	HGNC	protein_coding	OTTHUMT00000320044.2	41	0.00	0	A	NM_031468		71252819	71252819	-1	no_errors	ENST00000395275	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	1.000	G
CAMSAP2	23271	genome.wustl.edu	37	1	200801428	200801428	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:200801428C>T	ENST00000236925.4	+	6	828	c.779C>T	c.(778-780)gCc>gTc	p.A260V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.A249V|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.A249V			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	260	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GCATTAGCTGCCCTTATTCAT	0.393																																						dbGAP											0													206.0	181.0	190.0					1																	200801428		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.779C>T	1.37:g.200801428C>T	ENSP00000236925:p.Ala260Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.A260V	ENST00000236925.4	37	c.779		1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783719	0.70222	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	D;D;D	0.95980	-3.87;-3.87;-3.87	5.19	5.19	0.71726	Calponin homology domain (2);	0.050596	0.85682	D	0.000000	D	0.95793	0.8631	M	0.76170	2.325	0.80722	D	1	B;B;B	0.31931	0.347;0.285;0.2	B;B;B	0.38921	0.187;0.285;0.187	D	0.95343	0.8440	10	0.62326	D	0.03	-17.3985	18.9015	0.92444	0.0:1.0:0.0:0.0	.	249;260;249	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	V	249;249;260	ENSP00000351684:A249V;ENSP00000416800:A249V;ENSP00000236925:A260V	ENSP00000236925:A260V	A	+	2	0	CAMSAP1L1	199068051	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	5.541000	0.67212	2.698000	0.92095	0.591000	0.81541	GCC	CAMSAP2	-	pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain	ENSG00000118200		0.393	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	119	0.83	1	C	NM_203459		200801428	200801428	+1	no_errors	ENST00000236925	ensembl	human	known	69_37n	missense	133	23.12	40	SNP	1.000	T
CAMSAP2	23271	genome.wustl.edu	37	1	200827020	200827020	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:200827020delA	ENST00000236925.4	+	18	4352	c.4303delA	c.(4303-4305)aaafs	p.K1436fs	CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.K1409fs|CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.K1425fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1436	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATCTATCACTAAAAAAATGAT	0.373																																						dbGAP											0													67.0	72.0	70.0					1																	200827020		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4303delA	1.37:g.200827020delA	ENSP00000236925:p.Lys1436fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.M1437fs	ENST00000236925.4	37	c.4303		1																																																																																			CAMSAP2	-	pfam_CKK_domain,superfamily_PRC_barrell-like	ENSG00000118200		0.373	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	236	0.00	0	A	NM_203459		200827020	200827020	+1	no_errors	ENST00000236925	ensembl	human	known	69_37n	frame_shift_del	212	23.13	65	DEL	1.000	-
CAPN10	11132	genome.wustl.edu	37	2	241536361	241536361	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:241536361C>T	ENST00000391984.2	+	9	1939		c.e9+2		CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Splice_Site|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10						actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATCTTCCAGGCAAGCTCCTTG	0.642																																						dbGAP											0													27.0	31.0	30.0					2																	241536361		1977	4139	6116	-	-	-	SO:0001630	splice_region_variant	0			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1743+2C>T	2.37:g.241536361C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Splice_Site	SNP	-	e9+2	ENST00000391984.2	37	c.1743+2	CCDS42838.1	2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756135	0.49362	.	.	ENSG00000142330	ENST00000391984;ENST00000404753	.	.	.	4.54	1.0	0.19881	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0926	0.03660	0.2447:0.348:0.0:0.4073	.	.	.	.	.	-1	.	.	.	+	.	.	CAPN10	241185034	1.000000	0.71417	0.751000	0.31187	0.920000	0.55202	2.616000	0.46376	0.323000	0.23307	0.655000	0.94253	.	CAPN10	-	-	ENSG00000142330		0.642	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	HGNC	protein_coding	OTTHUMT00000257191.3	12	0.00	0	C	NM_023083	Intron	241536361	241536361	+1	no_errors	ENST00000391984	ensembl	human	known	69_37n	splice_site	7	61.11	11	SNP	0.998	T
CAPN7	23473	genome.wustl.edu	37	3	15259046	15259046	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:15259046C>T	ENST00000253693.2	+	3	579	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	109					positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GTTGAAGATGCTATAGAATTG	0.378																																						dbGAP											0													135.0	133.0	134.0					3																	15259046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.326C>T	3.37:g.15259046C>T	ENSP00000253693:p.Ala109Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A109V	ENST00000253693.2	37	c.326	CCDS2624.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.549176	0.96488	.	.	ENSG00000131375	ENST00000253693	D	0.94000	-3.33	5.81	5.81	0.92471	MIT (2);	0.053260	0.85682	D	0.000000	D	0.97250	0.9101	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97092	0.9791	9	.	.	.	-18.713	19.6735	0.95921	0.0:1.0:0.0:0.0	.	109	Q9Y6W3	CAN7_HUMAN	V	109	ENSP00000253693:A109V	.	A	+	2	0	CAPN7	15234050	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.294000	0.78760	2.736000	0.93811	0.655000	0.94253	GCT	CAPN7	-	pfam_MIT,smart_MIT	ENSG00000131375		0.378	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN7	HGNC	protein_coding	OTTHUMT00000252105.2	92	0.00	0	C	NM_014296		15259046	15259046	+1	no_errors	ENST00000253693	ensembl	human	known	69_37n	missense	61	37.11	36	SNP	1.000	T
CAPZA1	829	genome.wustl.edu	37	1	113202109	113202109	+	Intron	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:113202109T>C	ENST00000263168.3	+	7	1178				CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAATAACTTAGAAAAGGCT	0.403																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.507-214T>C	1.37:g.113202109T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FQ6|Q6FHD5	RNA	SNP	-	NULL	ENST00000263168.3	37	NULL	CCDS30805.1	1																																																																																			CAPZA1	-	-	ENSG00000116489		0.403	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA1	HGNC	protein_coding	OTTHUMT00000032567.2	10	0.00	0	T	NM_006135		113202109	113202109	+1	no_errors	ENST00000466066	ensembl	human	known	69_37n	rna	2	71.43	5	SNP	0.006	C
CAPN9	10753	genome.wustl.edu	37	1	230904950	230904950	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:230904950G>A	ENST00000271971.2	+	6	843	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	CAPN9_ENST00000354537.1_Missense_Mutation_p.A244T|CAPN9_ENST00000366666.2_Missense_Mutation_p.A181T|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	244	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGAATCTGAGGCCCGGACGCC	0.527																																						dbGAP											0													170.0	165.0	167.0					1																	230904950		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.730G>A	1.37:g.230904950G>A	ENSP00000271971:p.Ala244Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A244T	ENST00000271971.2	37	c.730	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813992	0.50527	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.87809	-2.3;-2.3;-2.3	5.28	5.28	0.74379	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.90266	0.6956	L	0.37507	1.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	D	0.88133	0.2839	10	0.26408	T	0.33	.	18.9137	0.92496	0.0:0.0:1.0:0.0	.	181;244;244	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	T	244;244;181	ENSP00000271971:A244T;ENSP00000346538:A244T;ENSP00000355626:A181T	ENSP00000271971:A244T	A	+	1	0	CAPN9	228971573	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	3.761000	0.55242	2.458000	0.83093	0.455000	0.32223	GCC	CAPN9	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000135773		0.527	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	154	0.00	0	G	NM_006615		230904950	230904950	+1	no_errors	ENST00000271971	ensembl	human	known	69_37n	missense	185	29.39	77	SNP	1.000	A
CARD11	84433	genome.wustl.edu	37	7	2968323	2968323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:2968323delG	ENST00000396946.4	-	13	2066	c.1663delC	c.(1663-1665)cggfs	p.R555fs		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	555					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTGCGGCTCCGGGGGGGCTGC	0.592			Mis		DLBCL																																	dbGAP		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1663delC	7.37:g.2968323delG	ENSP00000380150:p.Arg555fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Z7|Q2NKN7|Q548H3	Frame_Shift_Del	DEL	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.R555fs	ENST00000396946.4	37	c.1663	CCDS5336.2	7																																																																																			CARD11	-	NULL	ENSG00000198286		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	34	0.00	0	G	NM_032415		2968323	2968323	-1	no_errors	ENST00000396946	ensembl	human	known	69_37n	frame_shift_del	20	35.48	11	DEL	0.080	-
CARS	833	genome.wustl.edu	37	11	3022338	3022339	+	3'UTR	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:3022338_3022339insC	ENST00000397111.5	-	0	2497_2498				CARS_ENST00000397114.3_3'UTR|CARS_ENST00000380525.4_3'UTR|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000401769.3_3'UTR|CARS_ENST00000470221.2_5'UTR			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase						cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TCAGTCCTGTGCCCCCTCACTG	0.515			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	dbGAP		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.*6->G	11.37:g.3022343_3022343dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	RNA	INS	-	NULL	ENST00000397111.5	37	NULL	CCDS7742.1	11																																																																																			CARS	-	-	ENSG00000110619		0.515	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	56	0.00	0	-	NM_001751		3022338	3022339	-1	no_errors	ENST00000470221	ensembl	human	known	69_37n	rna	24	47.83	22	INS	0.000:0.000	C
CARNS1	57571	genome.wustl.edu	37	11	67191510	67191510	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:67191510C>T	ENST00000307823.3	+	9	2374	c.1922C>T	c.(1921-1923)gCg>gTg	p.A641V	CARNS1_ENST00000531040.1_Missense_Mutation_p.A738V|CARNS1_ENST00000423745.2_Missense_Mutation_p.A641V|CARNS1_ENST00000445895.2_Missense_Mutation_p.A764V	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	641	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						ACTGAGACGGCGGCCTGCATG	0.642																																						dbGAP											0													68.0	74.0	72.0					11																	67191510		2081	4195	6276	-	-	-	SO:0001583	missense	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1922C>T	11.37:g.67191510C>T	ENSP00000308268:p.Ala641Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp	p.A764V	ENST00000307823.3	37	c.2291	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346825	0.61073	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	5.07	5.07	0.68467	ATP-grasp fold (1);ATP-grasp fold, DUF201-type (1);ATP-grasp fold, subdomain 2 (1);	0.097634	0.42420	D	0.000707	D	0.97873	0.9301	L	0.60455	1.87	0.45607	D	0.998547	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98095	1.0411	10	0.45353	T	0.12	-14.9571	17.2144	0.86939	0.0:1.0:0.0:0.0	.	641;780	A5YM72;A5YM72-3	CRNS1_HUMAN;.	V	738;641;738;641;764	ENSP00000431670:A738V;ENSP00000308268:A641V;ENSP00000401519:A641V;ENSP00000389009:A764V	ENSP00000308268:A641V	A	+	2	0	CARNS1	66948086	0.998000	0.40836	0.178000	0.23040	0.681000	0.39784	5.425000	0.66470	2.364000	0.80123	0.549000	0.68633	GCG	CARNS1	-	pfscan_ATP-grasp	ENSG00000172508		0.642	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	10	0.00	0	C	NM_020811		67191510	67191510	+1	no_errors	ENST00000445895	ensembl	human	known	69_37n	missense	6	62.50	10	SNP	0.867	T
CARTPT	9607	genome.wustl.edu	37	5	71015636	71015636	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:71015636C>T	ENST00000296777.4	+	2	290				CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide						activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	ATAACTAGGGCTGGAAGTGCG	0.617																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.160-71C>T	5.37:g.71015636C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FG92	RNA	SNP	-	NULL	ENST00000296777.4	37	NULL	CCDS4011.1	5																																																																																			CARTPT	-	-	ENSG00000164326		0.617	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARTPT	HGNC	protein_coding	OTTHUMT00000254029.2	57	0.00	0	C	NM_004291		71015636	71015636	+1	no_errors	ENST00000513096	ensembl	human	putative	69_37n	rna	38	36.67	22	SNP	0.299	T
CASP4	837	genome.wustl.edu	37	11	104819396	104819396	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:104819396A>G	ENST00000444739.2	-	6	1699	c.789T>C	c.(787-789)cgT>cgC	p.R263R	CASP4_ENST00000531333.1_5'Flank|CASP4_ENST00000393150.3_Silent_p.R207R	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	263					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ACAGTTCCCCACGGTTTGCTA	0.488																																						dbGAP											0													132.0	108.0	116.0					11																	104819396		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.789T>C	11.37:g.104819396A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2NHL8|A2NHM0	Silent	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.R263	ENST00000444739.2	37	c.789	CCDS8327.1	11																																																																																			CASP4	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta	ENSG00000196954		0.488	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP4	HGNC	protein_coding	OTTHUMT00000387751.1	234	0.00	0	A	NM_001225		104819396	104819396	-1	no_errors	ENST00000444739	ensembl	human	known	69_37n	silent	131	40.72	90	SNP	0.002	G
CASR	846	genome.wustl.edu	37	3	122003223	122003223	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:122003223A>G	ENST00000490131.1	+	7	2794	c.2422A>G	c.(2422-2424)Acc>Gcc	p.T808A	CASR_ENST00000498619.1_Missense_Mutation_p.T818A|CASR_ENST00000296154.5_Missense_Mutation_p.T808A|AC068754.1_ENST00000408547.1_RNA	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	808					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGTTCATCACCTTCAGCAT	0.517																																						dbGAP											0													80.0	73.0	75.0					3																	122003223		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2422A>G	3.37:g.122003223A>G	ENSP00000418685:p.Thr808Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3	p.T818A	ENST00000490131.1	37	c.2452	CCDS3010.1	3	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694432	0.68386	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.88741	-2.42;-2.42;-2.42	6.04	6.04	0.98038	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	M	0.83692	2.655	0.80722	D	1	P;D	0.53745	0.92;0.962	P;P	0.52343	0.696;0.602	D	0.93468	0.6816	10	0.62326	D	0.03	.	15.7575	0.78046	1.0:0.0:0.0:0.0	.	818;808	E7ENE0;P41180	.;CASR_HUMAN	A	808;818;808	ENSP00000418685:T808A;ENSP00000420194:T818A;ENSP00000296154:T808A	ENSP00000296154:T808A	T	+	1	0	CASR	123485913	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	ACC	CASR	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000036828		0.517	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASR	HGNC	protein_coding	OTTHUMT00000355761.1	104	0.00	0	A	NM_000388		122003223	122003223	+1	no_errors	ENST00000498619	ensembl	human	known	69_37n	missense	64	43.86	50	SNP	1.000	G
CATSPER2P1	440278	genome.wustl.edu	37	15	44028784	44028784	+	RNA	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:44028784G>A	ENST00000381680.2	-	0	1000				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		ttaaaatagtgcttggcactt	0.363																																						dbGAP											0																																										-	-	-			0			BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028784G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000381680.2	37	NULL		15																																																																																			CATSPER2P1	-	-	ENSG00000205771		0.363	CATSPER2P1-002	KNOWN	basic	processed_transcript	CATSPER2P1	HGNC	pseudogene	OTTHUMT00000133242.1	23	0.00	0	G	NR_002318		44028784	44028784	-1	no_errors	ENST00000381680	ensembl	human	known	69_37n	rna	17	50.00	18	SNP	0.012	A
CAV1	857	genome.wustl.edu	37	7	116166610	116166610	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:116166610A>T	ENST00000341049.2	+	2	340	c.62A>T	c.(61-63)cAg>cTg	p.Q21L	CAV1_ENST00000393467.1_De_novo_Start_OutOfFrame|CAV1_ENST00000405348.1_De_novo_Start_OutOfFrame|CAV1_ENST00000393470.1_Splice_Site|CAV1_ENST00000393468.1_De_novo_Start_OutOfFrame	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	21					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			ATCCGGGAACAGGGCAACATC	0.617											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													150.0	110.0	124.0					7																	116166610		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"""caveolin 1, caveolae protein, 22kD"""	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.62A>T	7.37:g.116166610A>T	ENSP00000339191:p.Gln21Leu	Somatic	1471	WXS	Illumina GAIIx	Phase_IV	Q9UGP1|Q9UNG1|Q9UQH6	Splice_Site	SNP	-	e2-2	ENST00000341049.2	37	c.31-2	CCDS5767.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.2|21.2	4.108902|4.108902	0.77096|0.77096	.|.	.|.	ENSG00000105974|ENSG00000105974	ENST00000393470|ENST00000341049	.|D	.|0.93247	.|-3.19	5.36|5.36	4.19|4.19	0.49359|0.49359	.|.	.|0.058038	.|0.64402	.|D	.|0.000001	.|D	.|0.90293	.|0.6964	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|B	.|0.31125	.|0.309	.|B	.|0.24541	.|0.054	.|D	.|0.88020	.|0.2768	.|10	.|0.72032	.|D	.|0.01	.|0.2104	11.5508|11.5508	0.50719|0.50719	0.8657:0.0:0.0:0.1343|0.8657:0.0:0.0:0.1343	.|.	.|21	.|Q03135	.|CAV1_HUMAN	.|L	-1|21	.|ENSP00000339191:Q21L	.|ENSP00000339191:Q21L	.|Q	+|+	.|2	.|0	CAV1|CAV1	115953846|115953846	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	8.611000|8.611000	0.90905|0.90905	0.938000|0.938000	0.37419|0.37419	-0.341000|-0.341000	0.08007|0.08007	.|CAG	CAV1	-	-	ENSG00000105974		0.617	CAV1-001	KNOWN	basic|CCDS	protein_coding	CAV1	HGNC	protein_coding	OTTHUMT00000059734.4	50	0.00	0	A	NM_001753		116166610	116166610	+1	no_errors	ENST00000393470	ensembl	human	novel	69_37n	splice_site	31	40.38	21	SNP	1.000	T
CCAR1	55749	genome.wustl.edu	37	10	70509394	70509394	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:70509394G>A	ENST00000265872.6	+	10	1189	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	CCAR1_ENST00000543719.1_Missense_Mutation_p.R342H|CCAR1_ENST00000535016.1_Missense_Mutation_p.R342H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	357	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGTTCGACGTGTTGTTCCA	0.423																																						dbGAP											0													207.0	204.0	205.0					10																	70509394		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1070G>A	10.37:g.70509394G>A	ENSP00000265872:p.Arg357His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R357H	ENST00000265872.6	37	c.1070	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825141	0.71143	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.30448	1.53;1.68;1.68;1.7;1.74;1.7	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.989;0.987;0.996	T	0.49418	-0.8942	10	0.72032	D	0.01	-9.6153	20.0185	0.97487	0.0:0.0:1.0:0.0	.	342;357;331	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	357;342;342;342;331;162	ENSP00000265872:R357H;ENSP00000441820:R342H;ENSP00000445254:R342H;ENSP00000439252:R342H;ENSP00000438610:R331H;ENSP00000439642:R162H	ENSP00000265872:R357H	R	+	2	0	CCAR1	70179400	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	9.049000	0.93837	2.809000	0.96659	0.467000	0.42956	CGT	CCAR1	-	NULL	ENSG00000060339		0.423	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	130	0.00	0	G	NM_018237		70509394	70509394	+1	no_errors	ENST00000265872	ensembl	human	known	69_37n	missense	111	29.75	47	SNP	1.000	A
CCDC108	255101	genome.wustl.edu	37	2	219900111	219900111	+	Intron	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:219900111delT	ENST00000341552.5	-	5	626				CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000324264.6_Frame_Shift_Del_p.K146fs|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000295729.2_Frame_Shift_Del_p.K146fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTTAAAGgttttttttgtt	0.378																																						dbGAP											0													44.0	47.0	46.0					2																	219900111		2203	4298	6501	-	-	-	SO:0001627	intron_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.542+90A>-	2.37:g.219900111delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	NULL	p.K146fs	ENST00000341552.5	37	c.438	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.378	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	111	0.00	0	T	NM_194302		219900111	219900111	-1	no_errors	ENST00000295729	ensembl	human	known	69_37n	frame_shift_del	79	32.81	42	DEL	0.001	-
CCDC144A	9720	genome.wustl.edu	37	17	16612707	16612707	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:16612707T>C	ENST00000360524.8	+	5	1412	c.1336T>C	c.(1336-1338)Ttt>Ctt	p.F446L	CCDC144A_ENST00000399273.1_Missense_Mutation_p.F446L|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000443444.2_Missense_Mutation_p.F446L|CCDC144A_ENST00000340621.5_Missense_Mutation_p.F445L|RN7SL620P_ENST00000580704.1_RNA|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.F446L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	446																	AGACCAAGAGTTTGATTTGCA	0.323																																						dbGAP											0													44.0	39.0	40.0					17																	16612707		1799	4046	5845	-	-	-	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1336T>C	17.37:g.16612707T>C	ENSP00000353717:p.Phe446Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.F446L	ENST00000360524.8	37	c.1336	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	16.28	3.079220	0.55753	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	1.26	1.26	0.21427	.	.	.	.	.	T	0.11922	0.0290	L	0.29908	0.895	0.80722	D	1	B	0.24426	0.103	B	0.15870	0.014	T	0.13388	-1.0511	8	.	.	.	.	6.3393	0.21314	0.0:0.0:0.0:1.0	.	446	A2RUR9	C144A_HUMAN	L	445;446;446;446;446;446	ENSP00000344740:F445L;ENSP00000382215:F446L;ENSP00000439262:F446L;ENSP00000440655:F446L;ENSP00000353717:F446L;ENSP00000353685:F446L	.	F	+	1	0	CCDC144A	16553432	0.000000	0.05858	0.933000	0.37362	0.276000	0.26787	0.016000	0.13377	0.566000	0.29273	0.147000	0.16070	TTT	CCDC144A	-	NULL	ENSG00000170160		0.323	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	275	0.36	1	T			16612707	16612707	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	missense	112	47.42	101	SNP	0.992	C
CCDC144A	9720	genome.wustl.edu	37	17	16675969	16675969	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:16675969C>T	ENST00000360524.8	+	17	4273	c.4197C>T	c.(4195-4197)agC>agT	p.S1399S	RP11-219A15.1_ENST00000448331.3_Intron|CCDC144A_ENST00000399273.1_Intron|CCDC144A_ENST00000443444.2_Silent_p.S1399S	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1399	Poly-Ser.																tctcctccagctctttgcact	0.483																																						dbGAP											0													11.0	13.0	12.0					17																	16675969		1764	4000	5764	-	-	-	SO:0001819	synonymous_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.4197C>T	17.37:g.16675969C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60311|Q6ZU57	Silent	SNP	pfam_DUF3496	p.S1399	ENST00000360524.8	37	c.4197	CCDS45621.1	17																																																																																			CCDC144A	-	NULL	ENSG00000170160		0.483	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	66	0.00	0	C			16675969	16675969	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	silent	41	50.00	41	SNP	0.004	T
CCDC150	284992	genome.wustl.edu	37	2	197584490	197584490	+	Intron	DEL	A	A	-	rs368182383	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:197584490delA	ENST00000389175.4	+	19	2300				CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000487663.1_Intron|CCDC150_ENST00000409270.1_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150											breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTCCTTTACAAAAAAAAAAA	0.299														21	0.00419329	0.0121	0.0014	5008	,	,		19925	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2165+100A>-	2.37:g.197584490delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	RNA	DEL	-	NULL	ENST00000389175.4	37	NULL	CCDS46478.1	2																																																																																			CCDC150	-	-	ENSG00000144395		0.299	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	32	0.00	0	A	NM_001080539		197584490	197584490	+1	no_errors	ENST00000461825	ensembl	human	putative	69_37n	rna	11	34.78	8	DEL	0.000	-
CCDC150	284992	genome.wustl.edu	37	2	197597463	197597463	+	3'UTR	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:197597463delT	ENST00000389175.4	+	0	3618				CCDC150_ENST00000272831.7_3'UTR|CCDC150_ENST00000409270.1_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150											breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAACTACCCCTTTTTTTGTCC	0.328																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.*177T>-	2.37:g.197597463delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	RNA	DEL	-	NULL	ENST00000389175.4	37	NULL	CCDS46478.1	2																																																																																			CCDC150	-	-	ENSG00000144395		0.328	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	78	0.00	0	T	NM_001080539		197597463	197597463	+1	no_errors	ENST00000483877	ensembl	human	putative	69_37n	rna	33	25.53	12	DEL	0.008	-
CCDC22	28952	genome.wustl.edu	37	X	49098535	49098535	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:49098535G>A	ENST00000376227.3	+	3	452	c.282G>A	c.(280-282)gaG>gaA	p.E94E	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	94										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						ACCCCAGTGAGCCTGACCTCC	0.607																																						dbGAP											0													92.0	64.0	74.0					X																	49098535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.282G>A	X.37:g.49098535G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7G1	Silent	SNP	pfam_DUF812	p.E94	ENST00000376227.3	37	c.282	CCDS14322.1	X																																																																																			CCDC22	-	pfam_DUF812	ENSG00000101997		0.607	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	51	0.00	0	G	NM_014008		49098535	49098535	+1	no_errors	ENST00000376227	ensembl	human	known	69_37n	silent	34	47.69	31	SNP	0.975	A
CCDC51	79714	genome.wustl.edu	37	3	48473859	48473859	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:48473859C>T	ENST00000395694.2	-	4	1280	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000412398.2_Missense_Mutation_p.A290T|PLXNB1_ENST00000358459.4_5'Flank|CCDC51_ENST00000442740.1_Missense_Mutation_p.A290T|CCDC51_ENST00000447018.1_Missense_Mutation_p.A290T|PLXNB1_ENST00000358536.4_5'Flank|PLXNB1_ENST00000296440.6_5'Flank|CCDC51_ENST00000395696.1_Missense_Mutation_p.A399T	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	399						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCAGTGTGGCCACAAATGTC	0.517																																						dbGAP											0													56.0	61.0	59.0					3																	48473859		2068	4193	6261	-	-	-	SO:0001583	missense	0			AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.1195G>A	3.37:g.48473859C>T	ENSP00000379047:p.Ala399Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HA01	Missense_Mutation	SNP	NULL	p.A399T	ENST00000395694.2	37	c.1195	CCDS2766.2	3	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658993	0.47467	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.48201	0.86;0.82;0.86;0.82;0.86	5.4	4.53	0.55603	.	0.196582	0.45867	D	0.000336	T	0.45054	0.1323	M	0.63428	1.95	0.09310	N	1	P	0.47253	0.892	P	0.44946	0.465	T	0.40251	-0.9573	10	0.35671	T	0.21	-28.062	6.3615	0.21431	0.1482:0.6948:0.0:0.157	.	399	Q96ER9	CCD51_HUMAN	T	290;399;290;399;290	ENSP00000412300:A290T;ENSP00000379047:A399T;ENSP00000401194:A290T;ENSP00000379049:A399T;ENSP00000392898:A290T	ENSP00000379047:A399T	A	-	1	0	CCDC51	48448863	0.202000	0.23423	0.027000	0.17364	0.974000	0.67602	0.312000	0.19397	1.262000	0.44165	0.563000	0.77884	GCC	CCDC51	-	NULL	ENSG00000164051		0.517	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC51	HGNC	protein_coding	OTTHUMT00000344599.2	51	0.00	0	C	NM_024661		48473859	48473859	-1	no_errors	ENST00000395694	ensembl	human	known	69_37n	missense	14	60.00	21	SNP	0.059	T
CCDC74A	90557	genome.wustl.edu	37	2	132288362	132288362	+	Missense_Mutation	SNP	T	T	C	rs201632382		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:132288362T>C	ENST00000295171.6	+	3	644	c.506T>C	c.(505-507)aTg>aCg	p.M169T	CCDC74A_ENST00000467992.2_Missense_Mutation_p.M271T|CCDC74A_ENST00000409856.3_Missense_Mutation_p.M103T	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	169										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCCTCTCCATGTCAAGCTTC	0.637																																						dbGAP											0													38.0	56.0	50.0					2																	132288362		2187	4290	6477	-	-	-	SO:0001583	missense	0				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.506T>C	2.37:g.132288362T>C	ENSP00000295171:p.Met169Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4I5	Missense_Mutation	SNP	NULL	p.M169T	ENST00000295171.6	37	c.506	CCDS2167.1	2	901	0.4125457875457875	256	0.5203252032520326	145	0.4005524861878453	317	0.5541958041958042	183	0.24142480211081793	.	0.004	-2.351374	0.00217	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.43294	2.04;2.1;1.04;0.95	1.57	-0.67	0.11384	.	0.998261	0.08101	N	0.997806	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44651	-0.9314	9	0.02654	T	1	-0.4664	0.5182	0.00607	0.2701:0.3325:0.2175:0.1799	.	103;169	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	T	169;103;98;271	ENSP00000295171:M169T;ENSP00000387009:M103T;ENSP00000406839:M98T;ENSP00000444610:M271T	ENSP00000295171:M169T	M	+	2	0	CCDC74A	132004832	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.660000	0.05317	-0.687000	0.05162	-1.033000	0.02402	ATG	CCDC74A	-	NULL	ENSG00000163040		0.637	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	21	0.00	0	T	NM_138770		132288362	132288362	+1	no_errors	ENST00000295171	ensembl	human	known	69_37n	missense	8	27.27	3	SNP	0.001	C
CCDC82	79780	genome.wustl.edu	37	11	96117385	96117387	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:96117385_96117387delTCT	ENST00000278520.5	-	3	953_955	c.525_527delAGA	c.(523-528)gaagac>gac	p.E175del	CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_In_Frame_Del_p.E175del|CCDC82_ENST00000542662.1_In_Frame_Del_p.E175del			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	175										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCGCTTGATGTCTTCTTCTTCTA	0.36																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.525_527delAGA	11.37:g.96117394_96117396delTCT	ENSP00000278520:p.Glu175del	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	In_Frame_Del	DEL	NULL	p.E175in_frame_del	ENST00000278520.5	37	c.527_525	CCDS8307.1	11																																																																																			CCDC82	-	NULL	ENSG00000149231		0.360	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	286	0.00	0	TCT	NM_024725		96117385	96117387	-1	no_errors	ENST00000278520	ensembl	human	known	69_37n	in_frame_del	198	31.03	90	DEL	0.005:0.012:0.029	-
CCDC88A	55704	genome.wustl.edu	37	2	55546075	55546075	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:55546075G>A	ENST00000436346.1	-	19	4069	c.3228C>T	c.(3226-3228)aaC>aaT	p.N1076N	AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.N1076N|CCDC88A_ENST00000413716.2_Silent_p.N1075N|CCDC88A_ENST00000336838.6_Silent_p.N1075N|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1076					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCAAATTATTGTTCTGTGTCT	0.398																																						dbGAP											0													170.0	155.0	160.0					2																	55546075		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3228C>T	2.37:g.55546075G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	NULL	p.Q57*	ENST00000436346.1	37	c.169		2	.	.	.	.	.	.	.	.	.	.	G	8.277	0.814636	0.16607	.	.	ENSG00000115355	ENST00000456975	.	.	.	5.46	3.31	0.37934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0332	9.3092	0.37893	0.2752:0.0:0.7248:0.0	.	.	.	.	X	57	.	.	Q	-	1	0	CCDC88A	55399579	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.219000	0.42899	1.012000	0.39366	0.650000	0.86243	CAA	CCDC88A	-	NULL	ENSG00000115355		0.398	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		170	0.00	0	G	NM_017571		55546075	55546075	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000456975	ensembl	human	novel	69_37n	nonsense	61	47.41	55	SNP	1.000	A
CCDC88A	55704	genome.wustl.edu	37	2	55570919	55570919	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:55570919T>C	ENST00000436346.1	-	12	2039	c.1198A>G	c.(1198-1200)Atg>Gtg	p.M400V	CCDC88A_ENST00000263630.8_Missense_Mutation_p.M400V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.M400V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.M400V|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	400					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTCTATCCATATCTCGTTCC	0.313																																						dbGAP											0													104.0	99.0	101.0					2																	55570919		2201	4300	6501	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1198A>G	2.37:g.55570919T>C	ENSP00000410608:p.Met400Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.M400V	ENST00000436346.1	37	c.1198		2	.	.	.	.	.	.	.	.	.	.	T	7.133	0.580362	0.13686	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.78	4.56	0.56223	.	0.105878	0.41001	U	0.000973	T	0.10594	0.0259	N	0.25286	0.73	0.80722	D	1	B;B;B	0.20052	0.003;0.019;0.041	B;B;B	0.20384	0.027;0.02;0.029	T	0.16276	-1.0408	10	0.25106	T	0.35	-14.1922	7.9668	0.30104	0.1351:0.0:0.1411:0.7238	.	400;400;400	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	V	400	ENSP00000338728:M400V;ENSP00000263630:M400V;ENSP00000410608:M400V;ENSP00000404431:M400V	ENSP00000263630:M400V	M	-	1	0	CCDC88A	55424423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.313000	0.33585	2.208000	0.71279	0.454000	0.30748	ATG	CCDC88A	-	pfam_HOOK	ENSG00000115355		0.313	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		134	0.00	0	T	NM_017571		55570919	55570919	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	64	36.63	37	SNP	1.000	C
CCDC93	54520	genome.wustl.edu	37	2	118703151	118703152	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:118703151_118703152delGA	ENST00000376300.2	-	17	1440_1441	c.1303_1304delTC	c.(1303-1305)tccfs	p.S436fs	CCDC93_ENST00000319432.5_Frame_Shift_Del_p.S435fs	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	436										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTCTCCACTGGAGAGGGTCTGA	0.54																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1303_1304delTC	2.37:g.118703153_118703154delGA	ENSP00000365477:p.Ser436fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Frame_Shift_Del	DEL	pfam_DUF2037	p.S435fs	ENST00000376300.2	37	c.1304_1303	CCDS2121.2	2																																																																																			CCDC93	-	NULL	ENSG00000125633		0.540	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	45	0.00	0	GA	NM_019044		118703151	118703152	-1	no_errors	ENST00000376300	ensembl	human	known	69_37n	frame_shift_del	29	47.27	26	DEL	0.014:0.001	-
CCIN	881	genome.wustl.edu	37	9	36169591	36169591	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:36169591C>T	ENST00000335119.2	+	1	203	c.92C>T	c.(91-93)gCc>gTc	p.A31V		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	31	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGGGACATGGCCCTGAGTGTG	0.507																																						dbGAP											0													165.0	156.0	159.0					9																	36169591		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.92C>T	9.37:g.36169591C>T	ENSP00000334996:p.Ala31Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXG7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.A31V	ENST00000335119.2	37	c.92	CCDS6599.1	9	.	.	.	.	.	.	.	.	.	.	C	7.035	0.561458	0.13498	.	.	ENSG00000185972	ENST00000335119	T	0.65364	-0.15	5.69	5.69	0.88448	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.56097	D	0.000033	T	0.58075	0.2097	N	0.11284	0.12	0.39277	D	0.964484	D	0.69078	0.997	D	0.77004	0.989	T	0.54070	-0.8348	10	0.02654	T	1	.	15.3016	0.73955	0.0:1.0:0.0:0.0	.	31	Q13939	CALI_HUMAN	V	31	ENSP00000334996:A31V	ENSP00000334996:A31V	A	+	2	0	CCIN	36159591	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.796000	0.38794	2.690000	0.91761	0.561000	0.74099	GCC	CCIN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000185972		0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	134	0.00	0	C	NM_005893		36169591	36169591	+1	no_errors	ENST00000335119	ensembl	human	known	69_37n	missense	98	39.51	64	SNP	1.000	T
CCL20	6364	genome.wustl.edu	37	2	228680188	228680188	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:228680188G>A	ENST00000358813.4	+	2	153	c.95G>A	c.(94-96)tGc>tAc	p.C32Y	CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000409189.3_Missense_Mutation_p.C31Y			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	32					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		AACTTTGACTGCTGTCTTGGA	0.373																																						dbGAP											0													98.0	107.0	104.0					2																	228680188		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"""Chemokine ligands"", ""Endogenous ligands"""	10619	protein-coding gene	gene with protein product		601960	"""small inducible cytokine subfamily A (Cys-Cys), member 20"""	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.95G>A	2.37:g.228680188G>A	ENSP00000351671:p.Cys32Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S51|Q99664	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8	p.C32Y	ENST00000358813.4	37	c.95	CCDS2469.1	2	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338940	0.60963	.	.	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.58940	0.3;0.3	4.82	4.82	0.62117	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	.	.	.	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78979	-0.1990	9	0.87932	D	0	-11.3843	13.3989	0.60870	0.0:0.0:1.0:0.0	.	31;32	P78556-2;P78556	.;CCL20_HUMAN	Y	31;32	ENSP00000386273:C31Y;ENSP00000351671:C32Y	ENSP00000351671:C32Y	C	+	2	0	CCL20	228388432	1.000000	0.71417	0.996000	0.52242	0.846000	0.48090	5.204000	0.65180	2.225000	0.72522	0.557000	0.71058	TGC	CCL20	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000115009		0.373	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL20	HGNC	protein_coding	OTTHUMT00000331641.1	151	0.00	0	G	NM_004591		228680188	228680188	+1	no_errors	ENST00000358813	ensembl	human	known	69_37n	missense	88	45.34	73	SNP	1.000	A
CCL26	10344	genome.wustl.edu	37	7	75401299	75401299	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:75401299G>T	ENST00000394905.2	-	3	353	c.96C>A	c.(94-96)acC>acA	p.T32T	CCL26_ENST00000005180.4_Silent_p.T32T	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	32					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			lung(3)	3						GGAAGCAGCAGGTCTTGGATA	0.542																																						dbGAP											0													94.0	88.0	90.0					7																	75401299		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF124601	CCDS5578.1	7q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000006606	ENSG00000006606		"""Chemokine ligands"", ""Endogenous ligands"""	10625	protein-coding gene	gene with protein product	"""macrophage inflammatory protein 4-alpha"", ""small inducible cytokine A26"", ""CC chemokine IMAC"", ""chemokine N1"", ""thymic stroma chemokine-1"", ""eotaxin-3"""	604697	"""small inducible cytokine subfamily A (Cys-Cys), member 26"""	SCYA26		10373330	Standard	NM_006072		Approved	MIP-4alpha, eotaxin-3, IMAC, MIP-4a, TSC-1	uc003udt.1	Q9Y258	OTTHUMG00000130403	ENST00000394905.2:c.96C>A	7.37:g.75401299G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0Q5|Q52LV8	Silent	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.T32	ENST00000394905.2	37	c.96	CCDS5578.1	7																																																																																			CCL26	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000006606		0.542	CCL26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCL26	HGNC	protein_coding	OTTHUMT00000344900.1	87	0.00	0	G	NM_006072		75401299	75401299	-1	no_errors	ENST00000005180	ensembl	human	known	69_37n	silent	54	33.33	27	SNP	0.241	T
CCNB1IP1	57820	genome.wustl.edu	37	14	20779538	20779538	+	3'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:20779538C>T	ENST00000398169.3	-	0	1621				CCNB1IP1_ENST00000437553.2_3'UTR|CCNB1IP1_ENST00000353689.4_3'UTR|CCNB1IP1_ENST00000358932.4_3'UTR|CCNB1IP1_ENST00000398160.2_3'UTR			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase						blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GTAAAGTTAGCTAAATTATCt	0.303			T	HMGA2	leiomyoma																																	dbGAP		Dom	yes		14	14q11.2	57820	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""		M	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.*171G>A	14.37:g.20779538C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000398169.3	37	NULL	CCDS9547.1	14																																																																																			CCNB1IP1	-	-	ENSG00000100814		0.303	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	CCNB1IP1	HGNC	protein_coding	OTTHUMT00000073538.3	45	0.00	0	C	NM_021178, NM_182849, NM_182851, NM_182852		20779538	20779538	-1	no_errors	ENST00000556204	ensembl	human	known	69_37n	rna	10	58.33	14	SNP	0.532	T
CCNB3	85417	genome.wustl.edu	37	X	50052695	50052695	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:50052695T>C	ENST00000376042.1	+	6	1824	c.1526T>C	c.(1525-1527)aTa>aCa	p.I509T	CCNB3_ENST00000276014.7_Missense_Mutation_p.I509T|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	509					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAACCACTAATATTACAGACC	0.423																																						dbGAP											0													44.0	42.0	42.0					X																	50052695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1526T>C	X.37:g.50052695T>C	ENSP00000365210:p.Ile509Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.I509T	ENST00000376042.1	37	c.1526	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	T	7.977	0.750284	0.15778	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.21361	2.01;2.01	3.58	2.37	0.29283	.	68.976000	0.00166	N	0.000000	T	0.11750	0.0286	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.10450	0.005	T	0.21827	-1.0234	9	.	.	.	.	5.3318	0.15936	0.2563:0.0:0.0:0.7437	.	509	Q8WWL7	CCNB3_HUMAN	T	509	ENSP00000365210:I509T;ENSP00000276014:I509T	.	I	+	2	0	CCNB3	50069435	0.001000	0.12720	0.000000	0.03702	0.044000	0.14063	-0.124000	0.10595	0.538000	0.28769	0.414000	0.27820	ATA	CCNB3	-	NULL	ENSG00000147082		0.423	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	153	0.00	0	T			50052695	50052695	+1	no_errors	ENST00000276014	ensembl	human	known	69_37n	missense	101	41.62	72	SNP	0.000	C
CCNL2	81669	genome.wustl.edu	37	1	1330793	1330793	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:1330793T>C	ENST00000400809.3	-	4	580	c.575A>G	c.(574-576)cAt>cGt	p.H192R	CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Missense_Mutation_p.H192R	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	192					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		ATGCTTCACATGGACGCAGAA	0.532																																						dbGAP											0													129.0	128.0	129.0					1																	1330793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.575A>G	1.37:g.1330793T>C	ENSP00000383611:p.His192Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.H192R	ENST00000400809.3	37	c.575	CCDS30557.1	1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251367	0.59212	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.41758	0.99;0.99	5.09	5.09	0.68999	Cyclin-like (3);	0.000000	0.64402	D	0.000001	T	0.71542	0.3352	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	0.998;0.993;1.0	D;D;D	0.85130	0.995;0.953;0.997	T	0.78563	-0.2156	10	0.56958	D	0.05	.	14.2052	0.65730	0.0:0.0:0.0:1.0	.	192;192;192	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	R	192	ENSP00000383611:H192R;ENSP00000386158:H192R	ENSP00000383611:H192R	H	-	2	0	CCNL2	1320656	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.517000	0.81783	2.151000	0.67156	0.533000	0.62120	CAT	CCNL2	-	superfamily_Cyclin-like,pirsf_Cyclin_L	ENSG00000221978		0.532	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	31	0.00	0	T	NM_030937		1330793	1330793	-1	no_errors	ENST00000400809	ensembl	human	known	69_37n	missense	12	50.00	12	SNP	1.000	C
CCNT1	904	genome.wustl.edu	37	12	49086970	49086970	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:49086970G>A	ENST00000261900.3	-	9	2249	c.2027C>T	c.(2026-2028)aCt>aTt	p.T676I		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	676					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGGCTGAGTGGGCTGAAC	0.512																																						dbGAP											0													149.0	139.0	142.0					12																	49086970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.2027C>T	12.37:g.49086970G>A	ENSP00000261900:p.Thr676Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.T676I	ENST00000261900.3	37	c.2027	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297098	0.40694	.	.	ENSG00000129315	ENST00000261900	T	0.18657	2.2	5.3	4.35	0.52113	.	0.269200	0.36066	N	0.002820	T	0.15998	0.0385	L	0.36672	1.1	0.31622	N	0.65013	B	0.24258	0.1	B	0.20577	0.03	T	0.06320	-1.0833	10	0.87932	D	0	-6.5113	8.3596	0.32351	0.0841:0.1583:0.7576:0.0	.	676	O60563	CCNT1_HUMAN	I	676	ENSP00000261900:T676I	ENSP00000261900:T676I	T	-	2	0	CCNT1	47373237	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.582000	0.60957	2.654000	0.90174	0.561000	0.74099	ACT	CCNT1	-	NULL	ENSG00000129315		0.512	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	83	0.00	0	G	NM_001240		49086970	49086970	-1	no_errors	ENST00000261900	ensembl	human	known	69_37n	missense	67	38.53	42	SNP	0.994	A
CCT2	10576	genome.wustl.edu	37	12	69991010	69991010	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:69991010A>G	ENST00000299300.6	+	11	1245	c.1057A>G	c.(1057-1059)Atg>Gtg	p.M353V	CCT2_ENST00000543146.2_Missense_Mutation_p.M306V|CCT2_ENST00000544368.2_Missense_Mutation_p.M353V	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	353					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CGAGGAAGTCATGATTGGAGA	0.408																																						dbGAP											0													246.0	225.0	232.0					12																	69991010		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1057A>G	12.37:g.69991010A>G	ENSP00000299300:p.Met353Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.M353V	ENST00000299300.6	37	c.1057	CCDS8991.1	12	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386242	0.61956	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.77489	-1.1;-1.1;-1.1	6.16	6.16	0.99307	.	0.037181	0.85682	D	0.000000	T	0.79197	0.4405	M	0.79123	2.44	0.80722	D	1	B;B	0.23377	0.084;0.015	B;B	0.27500	0.047;0.08	T	0.74705	-0.3575	9	.	.	.	-20.3711	15.3771	0.74615	1.0:0.0:0.0:0.0	.	353;353	F5GWF6;P78371	.;TCPB_HUMAN	V	353;353;306	ENSP00000299300:M353V;ENSP00000441847:M353V;ENSP00000445471:M306V	.	M	+	1	0	CCT2	68277277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.148000	0.77389	2.367000	0.80283	0.528000	0.53228	ATG	CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta	ENSG00000166226		0.408	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	274	0.36	1	A	NM_006431		69991010	69991010	+1	no_errors	ENST00000299300	ensembl	human	known	69_37n	missense	141	44.27	112	SNP	1.000	G
CCT2	10576	genome.wustl.edu	37	12	69991456	69991456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:69991456C>T	ENST00000299300.6	+	12	1329	c.1141C>T	c.(1141-1143)Caa>Taa	p.Q381*	CCT2_ENST00000543146.2_Nonsense_Mutation_p.Q334*|CCT2_ENST00000544368.2_Nonsense_Mutation_p.Q381*	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	381					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGCCACTCAACAAATTTTAGA	0.383																																						dbGAP											0													93.0	88.0	90.0					12																	69991456		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1141C>T	12.37:g.69991456C>T	ENSP00000299300:p.Gln381*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Nonsense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.Q381*	ENST00000299300.6	37	c.1141	CCDS8991.1	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829258	0.90955	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	.	.	.	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.3571	16.7611	0.85512	0.1301:0.8699:0.0:0.0	.	.	.	.	X	381;381;334	.	.	Q	+	1	0	CCT2	68277723	1.000000	0.71417	0.791000	0.31998	0.559000	0.35586	7.481000	0.81124	1.582000	0.49881	0.655000	0.94253	CAA	CCT2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_beta	ENSG00000166226		0.383	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	137	0.00	0	C	NM_006431		69991456	69991456	+1	no_errors	ENST00000299300	ensembl	human	known	69_37n	nonsense	67	44.17	53	SNP	1.000	T
CCT6P3	643180	genome.wustl.edu	37	7	64528850	64528850	+	RNA	SNP	T	T	G	rs2949472	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:64528850T>G	ENST00000426828.1	+	0	638				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		GAATTCTGGCTTTTTTTACAA	0.284													t|||	73	0.0145767	0.034	0.0029	5008	,	,		16287	0.0169		0.004	False		,,,				2504	0.0051					dbGAP											0																																										-	-	-			0					7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528850T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000426828.1	37	NULL		7																																																																																			CCT6P3	-	-	ENSG00000234585		0.284	CCT6P3-004	KNOWN	basic	processed_transcript	CCT6P3	HGNC	pseudogene	OTTHUMT00000344862.1	75	0.00	0	T			64528850	64528850	+1	no_errors	ENST00000426828	ensembl	human	known	69_37n	rna	89	13.59	14	SNP	0.997	G
CCT7	10574	genome.wustl.edu	37	2	73474938	73474938	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:73474938G>C	ENST00000258091.5	+	7	808	c.667G>C	c.(667-669)Gct>Cct	p.A223P	CCT7_ENST00000398422.2_Missense_Mutation_p.A19P|CCT7_ENST00000540468.1_Missense_Mutation_p.A136P|CCT7_ENST00000538797.1_Missense_Mutation_p.A95P|CCT7_ENST00000539919.1_Missense_Mutation_p.A179P|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000537131.1_Missense_Mutation_p.A123P	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	223					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TTTCTCTTACGCTGGGTTTGA	0.383																																						dbGAP											0													78.0	73.0	74.0					2																	73474938		1859	4107	5966	-	-	-	SO:0001583	missense	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.667G>C	2.37:g.73474938G>C	ENSP00000258091:p.Ala223Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.A223P	ENST00000258091.5	37	c.667	CCDS46336.1	2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034092	0.93575	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.81437	0.4822	L	0.33245	0.995	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.987;1.0;0.997;0.997;0.999;0.998	T	0.76027	-0.3109	10	0.17832	T	0.49	-5.7165	17.1791	0.86850	0.0:0.0:1.0:0.0	.	136;95;123;181;19;223	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	P	136;179;223;19;123;95;181	ENSP00000442058:A136P;ENSP00000437824:A179P;ENSP00000258091:A223P;ENSP00000381456:A19P;ENSP00000444379:A123P;ENSP00000438462:A95P	ENSP00000258091:A223P	A	+	1	0	CCT7	73328446	1.000000	0.71417	0.974000	0.42286	0.966000	0.64601	9.625000	0.98406	2.720000	0.93068	0.655000	0.94253	GCT	CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta	ENSG00000135624		0.383	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	60	0.00	0	G			73474938	73474938	+1	no_errors	ENST00000258091	ensembl	human	known	69_37n	missense	32	47.54	29	SNP	1.000	C
CD177	57126	genome.wustl.edu	37	19	43859874	43859874	+	RNA	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:43859874A>C	ENST00000607517.1	+	0	497				CD177_ENST00000378012.2_RNA|CD177_ENST00000378009.4_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AGGGGACAACAGAAGAGATCT	0.582																																						dbGAP											0													57.0	55.0	55.0					19																	43859874		1858	4099	5957	-	-	-			0			AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43859874A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Silent	SNP	pfam_LY6_UPAR	p.T147	ENST00000607517.1	37	c.441		19																																																																																			CD177	-	pfam_LY6_UPAR	ENSG00000204936		0.582	CD177-001	KNOWN	basic	polymorphic_pseudogene	CD177	HGNC	polymorphic_pseudogene	OTTHUMT00000470162.1	79	0.00	0	A	NM_020406		43859874	43859874	+1	no_errors	ENST00000378009	ensembl	human	known	69_37n	silent	37	39.34	24	SNP	0.000	C
CD180	4064	genome.wustl.edu	37	5	66480169	66480170	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:66480169_66480170insG	ENST00000256447.4	-	3	658_659	c.501_502insC	c.(499-504)cccaaafs	p.K168fs		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	168					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGGAAGTCTTTGGGGAACTTAA	0.416																																						dbGAP											0										1,4265		0,1,2132						-0.6	0.0			113	0,8254		0,0,4127	no	frameshift	CD180	NM_005582.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				-	-	-	SO:0001589	frameshift_variant	0			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.502dupC	5.37:g.66480173_66480173dupG	ENSP00000256447:p.Lys168fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Z7|Q32MM5	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K167fs	ENST00000256447.4	37	c.502_501	CCDS3992.1	5																																																																																			CD180	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000134061		0.416	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	348	0.00	0	-	NM_005582		66480169	66480170	-1	no_errors	ENST00000256447	ensembl	human	known	69_37n	frame_shift_ins	271	35.48	149	INS	0.000:0.000	G
CD19	930	genome.wustl.edu	37	16	28943362	28943362	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:28943362C>T	ENST00000324662.3	+	1	85	c.41C>T	c.(40-42)aCc>aTc	p.T14I	CD19_ENST00000567541.1_Missense_Mutation_p.T14I|CD19_ENST00000538922.1_Missense_Mutation_p.T14I			P15391	CD19_HUMAN	CD19 molecule	14					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CTCTTCCTCACCCCCATGGAA	0.607																																						dbGAP											0													109.0	99.0	102.0					16																	28943362		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.41C>T	16.37:g.28943362C>T	ENSP00000313419:p.Thr14Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.T14I	ENST00000324662.3	37	c.41	CCDS10644.1	16	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578905	0.65878	.	.	ENSG00000177455	ENST00000538922;ENST00000324662	T;T	0.40756	1.02;1.02	5.24	3.29	0.37713	.	0.393245	0.21703	N	0.070384	T	0.30727	0.0774	L	0.34521	1.04	0.09310	N	1	B;B	0.22909	0.077;0.046	B;B	0.23419	0.046;0.021	T	0.27502	-1.0072	10	0.87932	D	0	-8.2233	7.7092	0.28667	0.0:0.8067:0.0:0.1933	.	14;14	F5H635;P15391	.;CD19_HUMAN	I	14	ENSP00000437940:T14I;ENSP00000313419:T14I	ENSP00000313419:T14I	T	+	2	0	CD19	28850863	0.000000	0.05858	0.007000	0.13788	0.258000	0.26162	0.104000	0.15313	0.602000	0.29896	0.558000	0.71614	ACC	CD19	-	NULL	ENSG00000177455		0.607	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	HGNC	protein_coding	OTTHUMT00000214152.2	218	0.00	0	C			28943362	28943362	+1	no_errors	ENST00000538922	ensembl	human	known	69_37n	missense	232	35.54	129	SNP	0.004	T
CD2	914	genome.wustl.edu	37	1	117297396	117297396	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:117297396G>A	ENST00000369478.3	+	2	313	c.205G>A	c.(205-207)Gca>Aca	p.A69T	CD2_ENST00000369477.1_Missense_Mutation_p.A69T	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	69	Ig-like V-type.|LFA-3 (CD58) binding region 1.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAAAAAGATTGCACAATTCAG	0.333																																					NSCLC(14;263 555 26380 43512 51332)	dbGAP											0													47.0	48.0	48.0					1																	117297396		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.205G>A	1.37:g.117297396G>A	ENSP00000358490:p.Ala69Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96TE5	Missense_Mutation	SNP	pfam_Ig_C2-set,pfam_Ig_V-set,prints_T-cell_sdhesion_molc_CD2	p.A69T	ENST00000369478.3	37	c.205	CCDS889.1	1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776126	0.49786	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	T;T	0.67865	-0.29;-0.29	4.27	2.38	0.29361	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.604118	0.15980	N	0.235346	T	0.62986	0.2473	L	0.55990	1.75	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.981;0.944	T	0.53464	-0.8435	10	0.87932	D	0	-7.4775	6.5205	0.22272	0.2198:0.0:0.7802:0.0	.	69;69;69	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	T	69	ENSP00000358490:A69T;ENSP00000358489:A69T	ENSP00000358489:A69T	A	+	1	0	CD2	117098919	0.012000	0.17670	0.001000	0.08648	0.009000	0.06853	1.229000	0.32600	0.553000	0.29044	0.563000	0.77884	GCA	CD2	-	pfam_Ig_V-set	ENSG00000116824		0.333	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2	HGNC	protein_coding	OTTHUMT00000059039.2	119	0.00	0	G	NM_001767		117297396	117297396	+1	no_errors	ENST00000369478	ensembl	human	known	69_37n	missense	66	34.00	34	SNP	0.001	A
CD2AP	23607	genome.wustl.edu	37	6	47547214	47547215	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:47547214_47547215delAA	ENST00000359314.5	+	9	1453_1454	c.997_998delAA	c.(997-999)aaafs	p.K333fs		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	333					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TGAACTTGATAAAGACTTTCCA	0.342																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.997_998delAA	6.37:g.47547214_47547215delAA	ENSP00000352264:p.Lys333fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL34|Q5VYA3|Q9UG97	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.K333fs	ENST00000359314.5	37	c.997_998	CCDS34472.1	6																																																																																			CD2AP	-	superfamily_SH3_domain	ENSG00000198087		0.342	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2AP	HGNC	protein_coding	OTTHUMT00000040817.2	149	0.00	0	AA			47547214	47547215	+1	no_errors	ENST00000359314	ensembl	human	known	69_37n	frame_shift_del	99	29.79	42	DEL	1.000:1.000	-
CD2AP	23607	genome.wustl.edu	37	6	47580254	47580254	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:47580254A>G	ENST00000359314.5	+	17	2316	c.1860A>G	c.(1858-1860)acA>acG	p.T620T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	620					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAGAGAAGACAATGAGAAGTA	0.338																																						dbGAP											0													53.0	55.0	54.0					6																	47580254		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1860A>G	6.37:g.47580254A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL34|Q5VYA3|Q9UG97	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.T620	ENST00000359314.5	37	c.1860	CCDS34472.1	6																																																																																			CD2AP	-	NULL	ENSG00000198087		0.338	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2AP	HGNC	protein_coding	OTTHUMT00000040817.2	188	0.53	1	A			47580254	47580254	+1	no_errors	ENST00000359314	ensembl	human	known	69_37n	silent	80	39.85	53	SNP	0.000	G
CD4	920	genome.wustl.edu	37	12	6928464	6928464	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:6928464G>A	ENST00000011653.4	+	10	1604		c.e10-1		GPR162_ENST00000382315.3_5'Flank|GPR162_ENST00000428545.2_5'Flank|GPR162_ENST00000311268.3_5'Flank	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TGTTCCTGCAGCCGGTTTCAG	0.607																																						dbGAP											0													191.0	165.0	174.0					12																	6928464		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1347-1G>A	12.37:g.6928464G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Splice_Site	SNP	-	e9-1	ENST00000011653.4	37	c.1347-1	CCDS8562.1	12	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745761	0.69418	.	.	ENSG00000010610	ENST00000011653	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8801	0.52571	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD4	6798725	1.000000	0.71417	0.999000	0.59377	0.612000	0.37316	3.790000	0.55461	2.519000	0.84933	0.555000	0.69702	.	CD4	-	-	ENSG00000010610		0.607	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	350	0.00	0	G	NM_000616	Intron	6928464	6928464	+1	no_errors	ENST00000011653	ensembl	human	known	69_37n	splice_site	335	38.08	206	SNP	0.999	A
CD99	4267	genome.wustl.edu	37	X	2641387	2641387	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:2641387A>G	ENST00000381192.3	+	7	525	c.343A>G	c.(343-345)Agg>Ggg	p.R115G	CD99_ENST00000381187.3_Missense_Mutation_p.R99G|CD99_ENST00000381184.1_Missense_Mutation_p.R115G|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	115					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						AGGCAGCCACAGGAAAGAAGG	0.537																																						dbGAP											0													443.0	404.0	417.0					X																	2641387		2203	4296	6499	-	-	-	SO:0001583	missense	0			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.343A>G	X.37:g.2641387A>G	ENSP00000370588:p.Arg115Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIW1|O00518|Q6ICV7	Missense_Mutation	SNP	pfam_CD99L2	p.R115G	ENST00000381192.3	37	c.343	CCDS14119.1	X	.	.	.	.	.	.	.	.	.	.	a	4.045	0.006026	0.07866	.	.	ENSG00000002586	ENST00000381192;ENST00000381187;ENST00000381184;ENST00000449611	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	0.774	-1.55	0.08558	.	4.506790	0.01412	U	0.014028	T	0.15046	0.0363	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.09314	-1.0680	9	0.32370	T	0.25	.	.	.	.	.	99;115;115	A6NIW1;B2R932;P14209	.;.;CD99_HUMAN	G	115;99;115;158	ENSP00000370588:R115G;ENSP00000370582:R99G;ENSP00000370579:R115G;ENSP00000405544:R158G	ENSP00000370579:R115G	R	+	1	2	CD99	2651387	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.279000	0.08479	-1.149000	0.02843	-0.794000	0.03295	AGG	CD99	-	pfam_CD99L2	ENSG00000002586		0.537	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	146	0.00	0	A	NM_001122898		2641387	2641387	+1	no_errors	ENST00000381192	ensembl	human	known	69_37n	missense	89	38.19	55	SNP	0.000	G
CDC42BPA	8476	genome.wustl.edu	37	1	227299877	227299877	+	Intron	SNP	C	C	T	rs531749875		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:227299877C>T	ENST00000366769.3	-	14	3293				CDC42BPA_ENST00000366766.2_Intron|CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000334218.5_Intron|CDC42BPA_ENST00000366767.3_Intron	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTGGTAAGAACGAGAATTATG	0.358																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2001+135G>A	1.37:g.227299877C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000366769.3	37	NULL	CCDS1558.1	1																																																																																			CDC42BPA	-	-	ENSG00000143776		0.358	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	81	0.00	0	C	NM_014826		227299877	227299877	-1	no_errors	ENST00000466538	ensembl	human	known	69_37n	rna	95	18.80	22	SNP	0.000	T
CDC42BPB	9578	genome.wustl.edu	37	14	103406001	103406001	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:103406001G>A	ENST00000361246.2	-	34	5061	c.4773C>T	c.(4771-4773)caC>caT	p.H1591H	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGTGGGCCACGTGGTTGAAGT	0.572																																						dbGAP											0													190.0	186.0	188.0					14																	103406001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.4773C>T	14.37:g.103406001G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.H1591	ENST00000361246.2	37	c.4773	CCDS9978.1	14																																																																																			CDC42BPB	-	smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	ENSG00000198752		0.572	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	14	0.00	0	G	NM_006035		103406001	103406001	-1	no_errors	ENST00000361246	ensembl	human	known	69_37n	silent	18	45.45	15	SNP	1.000	A
CDC5L	988	genome.wustl.edu	37	6	44414424	44414425	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:44414424_44414425delAG	ENST00000371477.3	+	16	2684_2685	c.2385_2386delAG	c.(2383-2388)aaagagfs	p.E796fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	796	Interaction with PLRG1.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGGAGAAAGAGACTTTAAA	0.332																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2385_2386delAG	6.37:g.44414426_44414427delAG	ENSP00000360532:p.Glu796fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76N46|Q99974	Frame_Shift_Del	DEL	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E796fs	ENST00000371477.3	37	c.2385_2386	CCDS4912.1	6																																																																																			CDC5L	-	NULL	ENSG00000096401		0.332	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	179	0.00	0	AG			44414424	44414425	+1	no_errors	ENST00000371477	ensembl	human	known	69_37n	frame_shift_del	118	34.08	61	DEL	0.999:1.000	-
CDH1	999	genome.wustl.edu	37	16	68835780	68835781	+	Frame_Shift_Ins	INS	-	-	C	rs115418995		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:68835780_68835781insC	ENST00000261769.5	+	3	562_563	c.371_372insC	c.(370-375)cgccccfs	p.RP124fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.RP124fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	124					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.P126fs*89(1)|p.P127fs*41(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACCACCACCGCCCCCCGCCCC	0.5			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Unknown(2)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	breast(4)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.377dupC	16.37:g.68835786_68835786dupC	ENSP00000261769:p.Arg124fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P127fs	ENST00000261769.5	37	c.371_372	CCDS10869.1	16																																																																																			CDH1	-	superfamily_Cadherin-like	ENSG00000039068		0.500	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	81	0.00	0	-	NM_004360		68835780	68835781	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_ins	38	51.90	41	INS	0.005:0.015	C
CDH15	1013	genome.wustl.edu	37	16	89249940	89249940	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:89249940C>T	ENST00000289746.2	+	4	422				CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCAGCCCTTGCTCTATGTTTG	0.552																																						dbGAP											0													58.0	57.0	57.0					16																	89249940		2198	4300	6498	-	-	-	SO:0001627	intron_variant	0			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.358-16C>T	16.37:g.89249940C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000289746.2	37	NULL	CCDS10976.1	16																																																																																			CDH15	-	-	ENSG00000129910		0.552	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1	9	0.00	0	C	NM_004933		89249940	89249940	+1	no_errors	ENST00000521087	ensembl	human	known	69_37n	rna	3	62.50	5	SNP	0.033	T
CDH19	28513	genome.wustl.edu	37	18	64176429	64176429	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:64176429G>T	ENST00000262150.2	-	11	1923	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1819	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTAGAAGACAGGTTCTTCTTG	0.388																																						dbGAP											0													130.0	121.0	124.0					18																	64176429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1631C>A	18.37:g.64176429G>T	ENSP00000262150:p.Pro544His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P544H	ENST00000262150.2	37	c.1631	CCDS11994.1	18	.	.	.	.	.	.	.	.	.	.	G	0.786	-0.760728	0.02996	.	.	ENSG00000071991	ENST00000262150	T	0.60171	0.21	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.488580	0.22210	N	0.063110	T	0.65933	0.2739	L	0.58583	1.82	0.09310	N	0.999999	D	0.55385	0.971	D	0.65443	0.935	T	0.59752	-0.7395	10	0.48119	T	0.1	.	5.3986	0.16283	0.1241:0.0:0.6798:0.1961	.	544	Q9H159	CAD19_HUMAN	H	544	ENSP00000262150:P544H	ENSP00000262150:P544H	P	-	2	0	CDH19	62327409	0.005000	0.15991	0.711000	0.30485	0.018000	0.09664	1.556000	0.36288	2.513000	0.84729	0.585000	0.79938	CCT	CDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000071991		0.388	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000256219.1	193	0.00	0	G	NM_021153		64176429	64176429	-1	no_errors	ENST00000262150	ensembl	human	known	69_37n	missense	26	75.00	78	SNP	0.031	T
CDH23	64072	genome.wustl.edu	37	10	73461950	73461950	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:73461950G>A	ENST00000224721.6	+	22	2589	c.2584G>A	c.(2584-2586)Gtc>Atc	p.V862I	CDH23_ENST00000299366.7_Missense_Mutation_p.V902I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	857	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGCAAAATCGTCGTCTCTGT	0.647																																						dbGAP											0													119.0	138.0	132.0					10																	73461950		2124	4202	6326	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2584G>A	10.37:g.73461950G>A	ENSP00000224721:p.Val862Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V860I	ENST00000224721.6	37	c.2578		10	.	.	.	.	.	.	.	.	.	.	G	2.042	-0.419874	0.04734	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.56	-11.1	0.00147	Cadherin (4);Cadherin-like (1);	0.735360	0.12396	N	0.472525	T	0.37598	0.1009	N	0.16201	0.385	0.80722	D	1	B;B;B	0.12630	0.006;0.002;0.0	B;B;B	0.10450	0.005;0.001;0.002	T	0.46470	-0.9189	9	0.06494	T	0.89	.	22.2545	0.99969	0.2545:0.0:0.7455:0.0	.	857;860;857	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	I	862;857;857;860;860;374	.	ENSP00000224721:V862I	V	+	1	0	CDH23	73131956	0.041000	0.20044	0.108000	0.21378	0.071000	0.16799	-0.137000	0.10389	-2.610000	0.00446	-2.025000	0.00428	GTC	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.647	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	43	0.00	0	G	NM_052836		73461950	73461950	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	0.302	A
CDH7	1005	genome.wustl.edu	37	18	63430237	63430237	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:63430237G>A	ENST00000397968.2	+	2	585	c.159G>A	c.(157-159)caG>caA	p.Q53Q	CDH7_ENST00000323011.3_Silent_p.Q53Q|CDH7_ENST00000536984.2_Silent_p.Q53Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGTGGAATCAGTTCTTTGTGC	0.468																																						dbGAP											0													89.0	83.0	85.0					18																	63430237		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.159G>A	18.37:g.63430237G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H157	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q53	ENST00000397968.2	37	c.159	CCDS11993.1	18																																																																																			CDH7	-	superfamily_Cadherin-like	ENSG00000081138		0.468	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	76	0.00	0	G	NM_033646		63430237	63430237	+1	no_errors	ENST00000323011	ensembl	human	known	69_37n	silent	8	77.78	28	SNP	1.000	A
CDHR1	92211	genome.wustl.edu	37	10	85974488	85974488	+	3'UTR	SNP	A	A	G	rs556428563		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:85974488A>G	ENST00000372117.3	+	0	2794				CDHR1_ENST00000440770.2_3'UTR|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1						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)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCTGTTTTGCACAATGGTATA	0.577											OREG0020334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	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.*111A>G	10.37:g.85974488A>G		Somatic	1240	WXS	Illumina GAIIx	Phase_IV	Q69YZ8|Q8IXY5	RNA	SNP	-	NULL	ENST00000372117.3	37	NULL	CCDS7372.1	10																																																																																			CDHR1	-	-	ENSG00000148600		0.577	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	19	0.00	0	A	NM_033100		85974488	85974488	+1	no_errors	ENST00000459673	ensembl	human	known	69_37n	rna	10	54.55	12	SNP	0.000	G
CDK15	65061	genome.wustl.edu	37	2	202755509	202755509	+	Splice_Site	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:202755509G>T	ENST00000374598.4	+	13	1200	c.1200G>T	c.(1198-1200)gaG>gaT	p.E400D	CDK15_ENST00000410091.3_Splice_Site_p.E349D|CDK15_ENST00000450471.2_Intron|CDK15_ENST00000260967.2_Splice_Site_p.E349D			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	400							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TTCCTACAGAGGAGTCTTTGT	0.418																																						dbGAP											0													106.0	104.0	105.0					2																	202755509		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1199-1G>T	2.37:g.202755509G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	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	p.E400D	ENST00000374598.4	37	c.1200		2	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733139	0.15507	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000374598	T;T;T	0.70045	-0.45;-0.45;-0.43	5.01	-0.163	0.13363	.	0.431349	0.22748	N	0.056117	T	0.57740	0.2074	L	0.39020	1.185	0.26480	N	0.975134	.	.	.	.	.	.	T	0.52049	-0.8627	8	0.33141	T	0.24	.	11.0391	0.47820	0.5:0.0:0.5:0.0	.	.	.	.	D	349;349;400	ENSP00000386901:E349D;ENSP00000260967:E349D;ENSP00000363726:E400D	ENSP00000260967:E349D	E	+	3	2	CDK15	202463754	0.478000	0.25917	0.948000	0.38648	0.653000	0.38743	0.086000	0.14935	-0.354000	0.08212	-0.377000	0.06932	GAG	CDK15	-	superfamily_Kinase-like_dom	ENSG00000138395		0.418	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	CDK15	HGNC	protein_coding	OTTHUMT00000336053.2	121	0.00	0	G		Missense_Mutation	202755509	202755509	+1	no_errors	ENST00000374598	ensembl	human	known	69_37n	missense	97	33.10	48	SNP	0.460	T
CDKAL1	54901	genome.wustl.edu	37	6	20548874	20548876	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	ATA	ATA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:20548874_20548876delATA	ENST00000378610.1	+	2	234_236	c.224_226delATA	c.(223-228)cataat>cat	p.N77del	CDKAL1_ENST00000274695.4_In_Frame_Del_p.N77del|CDKAL1_ENST00000378624.4_Intron			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	77	MTTase N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00780}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGTTGTTCTCATAATAATTCAGA	0.296																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.224_226delATA	6.37:g.20548877_20548879delATA	ENSP00000367873:p.Asn77del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S0|Q6P385|Q6ZR27|Q9NXB3	In_Frame_Del	DEL	pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.N77in_frame_del	ENST00000378610.1	37	c.224_226	CCDS4546.1	6																																																																																			CDKAL1	-	pfam_Methylthiotransferase_N,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	ENSG00000145996		0.296	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	HGNC	protein_coding	OTTHUMT00000039986.1	240	0.00	0	ATA	NM_017774		20548874	20548876	+1	no_errors	ENST00000274695	ensembl	human	known	69_37n	in_frame_del	157	30.54	73	DEL	1.000:1.000:1.000	-
CDKN1B	1027	genome.wustl.edu	37	12	12870962	12870962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:12870962delT	ENST00000228872.4	+	1	905	c.189delT	c.(187-189)gatfs	p.D63fs	CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.D63fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	63					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GGAATTTCGATTTTCAGAATC	0.577																																						dbGAP											0													84.0	96.0	92.0					12																	12870962		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.189delT	12.37:g.12870962delT	ENSP00000228872:p.Asp63fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Del	DEL	pfam_CDI	p.Q65fs	ENST00000228872.4	37	c.189	CCDS8653.1	12																																																																																			CDKN1B	-	pfam_CDI	ENSG00000111276		0.577	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1B	HGNC	protein_coding	OTTHUMT00000313878.2	44	0.00	0	T	NM_004064		12870962	12870962	+1	no_errors	ENST00000228872	ensembl	human	known	69_37n	frame_shift_del	22	45.24	19	DEL	1.000	-
CDKN1B	1027	genome.wustl.edu	37	12	12871052	12871053	+	Frame_Shift_Ins	INS	-	-	C	rs146217922		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:12871052_12871053insC	ENST00000228872.4	+	1	995_996	c.279_280insC	c.(280-282)cccfs	p.P94fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.P94fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	94					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GACCCCCGCGGCCCCCCAAAGG	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.285dupC	12.37:g.12871058_12871058dupC	ENSP00000228872:p.Pro94fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	pfam_CDI	p.K95fs	ENST00000228872.4	37	c.279_280	CCDS8653.1	12																																																																																			CDKN1B	-	NULL	ENSG00000111276		0.614	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1B	HGNC	protein_coding	OTTHUMT00000313878.2	33	0.00	0	-	NM_004064		12871052	12871053	+1	no_errors	ENST00000228872	ensembl	human	known	69_37n	frame_shift_ins	13	38.10	8	INS	0.997:0.815	C
CELSR3	1951	genome.wustl.edu	37	3	48694488	48694488	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:48694488T>C	ENST00000164024.4	-	2	4322	c.4042A>G	c.(4042-4044)Agc>Ggc	p.S1348G	CELSR3_ENST00000544264.1_Missense_Mutation_p.S1348G	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1348					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCTCGGAGCTGAACCAGGGC	0.682																																						dbGAP											0													43.0	48.0	46.0					3																	48694488		2200	4298	6498	-	-	-	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4042A>G	3.37:g.48694488T>C	ENSP00000164024:p.Ser1348Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S1348G	ENST00000164024.4	37	c.4042	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683816	0.47991	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71103	-0.54;-0.53	4.84	4.84	0.62591	.	.	.	.	.	T	0.57315	0.2045	L	0.31752	0.955	0.46222	D	0.998933	B;D	0.53151	0.005;0.958	B;B	0.39152	0.009;0.292	T	0.60875	-0.7176	9	0.37606	T	0.19	.	14.5657	0.68173	0.0:0.0:0.0:1.0	.	1348;1418	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	G	1348	ENSP00000164024:S1348G;ENSP00000445694:S1348G	ENSP00000164024:S1348G	S	-	1	0	CELSR3	48669492	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.602000	0.54066	2.040000	0.60383	0.448000	0.29417	AGC	CELSR3	-	NULL	ENSG00000008300		0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	18	0.00	0	T	NM_001407		48694488	48694488	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	missense	2	83.33	10	SNP	1.000	C
CENPC	1060	genome.wustl.edu	37	4	68355753	68355753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:68355753delA	ENST00000273853.6	-	17	2852	c.2602delT	c.(2602-2604)tctfs	p.S868fs		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	868					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TTCCCAGTAGAAAAAAAGGGT	0.343																																						dbGAP											0													67.0	57.0	60.0					4																	68355753		1827	4078	5905	-	-	-	SO:0001589	frameshift_variant	0			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2602delT	4.37:g.68355753delA	ENSP00000273853:p.Ser868fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW27|Q9P0M5	Frame_Shift_Del	DEL	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.S868fs	ENST00000273853.6	37	c.2602	CCDS47063.1	4																																																																																			CENPC1	-	pfam_Mif2/CENP-C_cupin,superfamily_RmlC_Cupin	ENSG00000145241		0.343	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC1	HGNC	protein_coding	OTTHUMT00000362001.2	68	0.00	0	A			68355753	68355753	-1	no_errors	ENST00000273853	ensembl	human	known	69_37n	frame_shift_del	31	24.39	10	DEL	1.000	-
CENPJ	55835	genome.wustl.edu	37	13	25479533	25479533	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:25479533T>C	ENST00000381884.4	-	7	2828	c.2643A>G	c.(2641-2643)tcA>tcG	p.S881S	CENPJ_ENST00000545981.1_Silent_p.S881S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	881					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCCCAAGTGTGAATCTGACT	0.383																																						dbGAP											0													95.0	97.0	96.0					13																	25479533		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2643A>G	13.37:g.25479533T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Silent	SNP	pfam_Tcp10/CenJ_C	p.S881	ENST00000381884.4	37	c.2643	CCDS9310.1	13																																																																																			CENPJ	-	NULL	ENSG00000151849		0.383	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPJ	HGNC	protein_coding	OTTHUMT00000044209.1	349	0.00	0	T	NM_018451		25479533	25479533	-1	no_errors	ENST00000381884	ensembl	human	known	69_37n	silent	163	36.08	92	SNP	0.916	C
CEP170	9859	genome.wustl.edu	37	1	243328663	243328665	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:243328663_243328665delAAG	ENST00000366542.1	-	13	2648_2650	c.2597_2599delCTT	c.(2596-2601)tcttta>tta	p.S866del	CEP170_ENST00000366543.1_In_Frame_Del_p.S768del|RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_In_Frame_Del_p.S768del|CEP170_ENST00000490813.1_5'Flank	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	866	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTAATGCTAAAGAAGAAGGAGT	0.389																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.2597_2599delCTT	1.37:g.243328669_243328671delAAG	ENSP00000355500:p.Ser866del	Somatic		WXS	Illumina GAIIx	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	In_Frame_Del	DEL	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.S866in_frame_del	ENST00000366542.1	37	c.2599_2597	CCDS44339.1	1																																																																																			CEP170	-	NULL	ENSG00000143702		0.389	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	222	0.00	0	AAG	NM_014812		243328663	243328665	-1	no_errors	ENST00000366542	ensembl	human	known	69_37n	in_frame_del	200	23.28	61	DEL	0.001:0.000:0.785	-
CEP290	80184	genome.wustl.edu	37	12	88487681	88487681	+	Frame_Shift_Del	DEL	T	T	-	rs386834154		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:88487681delT	ENST00000552810.1	-	28	3518	c.3175delA	c.(3175-3177)atafs	p.I1059fs	CEP290_ENST00000309041.7_Frame_Shift_Del_p.I1061fs|CEP290_ENST00000547691.2_Frame_Shift_Del_p.I119fs|CEP290_ENST00000397838.3_Frame_Shift_Del_p.I119fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1059					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCATAGTTATTTTTTTTGAA	0.338																																						dbGAP											0			GRCh37	CD073593	CEP290	D							60.0	59.0	59.0					12																	88487681		1842	4093	5935	-	-	-	SO:0001589	frameshift_variant	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3175delA	12.37:g.88487681delT	ENSP00000448012:p.Ile1059fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	NULL	p.I1061fs	ENST00000552810.1	37	c.3181	CCDS55858.1	12																																																																																			CEP290	-	NULL	ENSG00000198707		0.338	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	62	0.00	0	T	NM_025114		88487681	88487681	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	frame_shift_del	44	29.41	20	DEL	1.000	-
CEP350	9857	genome.wustl.edu	37	1	180068091	180068091	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:180068091A>G	ENST00000367607.3	+	37	9578	c.9160A>G	c.(9160-9162)Aag>Gag	p.K3054E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3054					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATTTGGAAGAAAGAAAAGAGA	0.358																																						dbGAP											0													84.0	79.0	81.0					1																	180068091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.9160A>G	1.37:g.180068091A>G	ENSP00000356579:p.Lys3054Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.K3054E	ENST00000367607.3	37	c.9160	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.8|29.8	5.033876|5.033876	0.93575|0.93575	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000417046|ENST00000429851	T|.	0.69175|.	-0.38|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|0.000000	0.46442|0.46442	D|D	0.000286|0.000286	T|T	0.76870|0.76870	0.4048|0.4048	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.80764|.	0.994;0.989|.	T|T	0.77667|0.77667	-0.2502|-0.2502	9|6	.|.	.|.	.|.	.|.	16.3232|16.3232	0.82961|0.82961	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3054;3054|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	E|R	3054;518|1228	ENSP00000356579:K3054E|.	.|.	K|K	+|+	1|2	0|0	CEP350|CEP350	178334714|178334714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.711000|8.711000	0.91396|0.91396	2.254000|2.254000	0.74563|0.74563	0.482000|0.482000	0.46254|0.46254	AAG|AAA	CEP350	-	NULL	ENSG00000135837		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	154	0.00	0	A	NM_014810		180068091	180068091	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	120	29.24	50	SNP	1.000	G
CEP41	95681	genome.wustl.edu	37	7	130038826	130038826	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:130038826C>T	ENST00000223208.5	-	11	1298	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CEP41_ENST00000343969.5_Missense_Mutation_p.R271Q|CEP41_ENST00000541543.1_Missense_Mutation_p.R255Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	343					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CTGAGCGCTTCGGGCACCAGG	0.577																																						dbGAP											0													106.0	121.0	116.0					7																	130038826		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.1028G>A	7.37:g.130038826C>T	ENSP00000223208:p.Arg343Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.R343Q	ENST00000223208.5	37	c.1028	CCDS5821.1	7	.	.	.	.	.	.	.	.	.	.	C	5.331	0.246316	0.10130	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	D;D;D	0.90385	-2.66;-2.17;-2.5	5.63	4.74	0.60224	.	0.192970	0.41396	D	0.000884	D	0.89842	0.6832	M	0.69823	2.125	0.09310	N	1	B;B;D	0.58268	0.007;0.429;0.982	B;B;B	0.44108	0.001;0.062;0.441	D	0.84040	0.0364	10	0.46703	T	0.11	-6.1853	12.9098	0.58173	0.0:0.8015:0.1985:0.0	.	255;271;343	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	Q	343;255;271	ENSP00000223208:R343Q;ENSP00000445888:R255Q;ENSP00000342738:R271Q	ENSP00000223208:R343Q	R	-	2	0	TSGA14	129826062	0.279000	0.24239	0.048000	0.18961	0.014000	0.08584	2.338000	0.43957	1.507000	0.48752	0.655000	0.94253	CGA	CEP41	-	NULL	ENSG00000106477		0.577	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP41	HGNC	protein_coding	OTTHUMT00000349702.2	186	0.53	1	C	NM_018718		130038826	130038826	-1	no_errors	ENST00000223208	ensembl	human	known	69_37n	missense	105	40.45	72	SNP	0.068	T
CEP44	80817	genome.wustl.edu	37	4	175231109	175231110	+	Frame_Shift_Ins	INS	-	-	A	rs77511056		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:175231109_175231110insA	ENST00000503780.1	+	8	1201_1202	c.787_788insA	c.(787-789)caafs	p.Q263fs	CEP44_ENST00000296519.4_Frame_Shift_Ins_p.Q263fs|CEP44_ENST00000457424.2_Frame_Shift_Ins_p.Q263fs|CEP44_ENST00000426172.1_Frame_Shift_Ins_p.Q263fs	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	263						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CTGTTTGGAACAAAAAATGAAA	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.793dupA	4.37:g.175231115_175231115dupA	ENSP00000423153:p.Gln263fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Frame_Shift_Ins	INS	NULL	p.M265fs	ENST00000503780.1	37	c.787_788	CCDS34106.1	4																																																																																			CEP44	-	NULL	ENSG00000164118		0.351	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP44	HGNC	protein_coding	OTTHUMT00000362109.2	112	0.00	0	-	NM_030633		175231109	175231110	+1	no_errors	ENST00000426172	ensembl	human	known	69_37n	frame_shift_ins	72	32.71	35	INS	0.994:0.960	A
CERKL	375298	genome.wustl.edu	37	2	182413440	182413440	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:182413440T>A	ENST00000339098.5	-	8	1117	c.1118A>T	c.(1117-1119)gAt>gTt	p.D373V	CERKL_ENST00000409440.3_Missense_Mutation_p.D329V|CERKL_ENST00000410087.3_Missense_Mutation_p.D347V|CERKL_ENST00000374970.2_Missense_Mutation_p.D278V|CERKL_ENST00000374969.2_Missense_Mutation_p.D234V|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	373					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AACAGCAAAATCTCTCCGTTG	0.388																																						dbGAP											0													97.0	97.0	97.0					2																	182413440		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1118A>T	2.37:g.182413440T>A	ENSP00000341159:p.Asp373Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom	p.D373V	ENST00000339098.5	37	c.1118	CCDS42789.1	2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420678	0.83559	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69	5.62	5.62	0.85841	.	0.110120	0.64402	D	0.000009	T	0.38374	0.1038	M	0.76574	2.34	0.80722	D	1	D;D;D;D;P	0.89917	0.996;1.0;1.0;0.995;0.88	D;D;D;D;B	0.87578	0.927;0.966;0.998;0.928;0.323	T	0.10042	-1.0647	10	0.42905	T	0.14	.	15.8317	0.78757	0.0:0.0:0.0:1.0	.	329;234;278;347;373	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	V	347;329;234;373;278	ENSP00000386725:D347V;ENSP00000387080:D329V;ENSP00000364108:D234V;ENSP00000341159:D373V;ENSP00000364109:D278V	ENSP00000341159:D373V	D	-	2	0	CERKL	182121685	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.846000	0.86887	2.136000	0.66102	0.533000	0.62120	GAT	CERKL	-	NULL	ENSG00000188452		0.388	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERKL	HGNC	protein_coding	OTTHUMT00000334811.1	246	0.00	0	T			182413440	182413440	-1	no_errors	ENST00000339098	ensembl	human	known	69_37n	missense	100	31.97	47	SNP	1.000	A
CGNL1	84952	genome.wustl.edu	37	15	57836733	57836733	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:57836733G>A	ENST00000281282.5	+	16	3516	c.3438G>A	c.(3436-3438)ggG>ggA	p.G1146G		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1146						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAAAGAGGGGCTGGTTGTGC	0.607																																						dbGAP											0													55.0	47.0	50.0					15																	57836733		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3438G>A	15.37:g.57836733G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.G1146	ENST00000281282.5	37	c.3438	CCDS10161.1	15																																																																																			CGNL1	-	pfam_Myosin_tail	ENSG00000128849		0.607	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	14	0.00	0	G	NM_032866		57836733	57836733	+1	no_errors	ENST00000281282	ensembl	human	known	69_37n	silent	9	52.63	10	SNP	0.932	A
CHD1	1105	genome.wustl.edu	37	5	98206408	98206409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:98206408_98206409insT	ENST00000284049.3	-	28	4109_4110	c.3960_3961insA	c.(3958-3963)aaagaafs	p.E1321fs	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1321					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.E1321fs*22(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAAAGAGCTTCTTTTTTTGCAA	0.381																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3961dupA	5.37:g.98206415_98206415dupT	ENSP00000284049:p.Glu1321fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ3	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1320fs	ENST00000284049.3	37	c.3961_3960	CCDS34204.1	5																																																																																			CHD1	-	superfamily_Homeodomain-like	ENSG00000153922		0.381	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	147	0.00	0	-	NM_001270		98206408	98206409	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	frame_shift_ins	92	36.99	54	INS	1.000:1.000	T
CHD6	84181	genome.wustl.edu	37	20	40126084	40126084	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:40126084G>A	ENST00000373233.3	-	8	1209	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	CHD6_ENST00000373222.3_3'UTR|CHD6_ENST00000309279.7_Silent_p.I344I	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	344	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTTCTGTGCGATGCGAGGAT	0.413																																						dbGAP											0													156.0	133.0	141.0					20																	40126084		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1032C>T	20.37:g.40126084G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,pfscan_Chromo_domain/shadow	p.S47L	ENST00000373233.3	37	c.140	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467160	0.26335	.	.	ENSG00000124177	ENST00000440697	.	.	.	5.48	2.51	0.30379	.	.	.	.	.	T	0.53834	0.1821	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42396	-0.9454	4	.	.	.	-14.3621	5.8674	0.18783	0.2746:0.0:0.6009:0.1245	.	.	.	.	L	47	.	.	S	-	2	0	CHD6	39559498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.561000	0.23515	0.296000	0.22592	0.655000	0.94253	TCG	CHD6	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	ENSG00000124177		0.413	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	187	0.00	0	G			40126084	40126084	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000440697	ensembl	human	known	69_37n	missense	87	42.00	63	SNP	0.995	A
CHD7	55636	genome.wustl.edu	37	8	61654214	61654214	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:61654214T>C	ENST00000423902.2	+	2	702	c.223T>C	c.(223-225)Tat>Cat	p.Y75H	CHD7_ENST00000524602.1_Missense_Mutation_p.Y75H|CHD7_ENST00000525508.1_Missense_Mutation_p.Y75H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	75					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTATAATCAGTATGAACAACA	0.458																																						dbGAP											0													68.0	68.0	68.0					8																	61654214		2071	4214	6285	-	-	-	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.223T>C	8.37:g.61654214T>C	ENSP00000392028:p.Tyr75His	Somatic		WXS	Illumina GAIIx	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Y75H	ENST00000423902.2	37	c.223	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963415	0.53507	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.49139	0.79;0.79;0.79	5.1	5.1	0.69264	.	0.000000	0.36338	N	0.002658	T	0.61223	0.2330	L	0.43152	1.355	0.50813	D	0.999892	D	0.71674	0.998	D	0.76071	0.987	T	0.64871	-0.6305	10	0.87932	D	0	-10.0936	14.8793	0.70519	0.0:0.0:0.0:1.0	.	75	Q9P2D1	CHD7_HUMAN	H	75	ENSP00000392028:Y75H;ENSP00000437061:Y75H;ENSP00000436027:Y75H	ENSP00000307304:Y75H	Y	+	1	0	CHD7	61816768	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	6.700000	0.74619	1.928000	0.55862	0.477000	0.44152	TAT	CHD7	-	NULL	ENSG00000171316		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	76	0.00	0	T	XM_098762		61654214	61654214	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	missense	40	38.46	25	SNP	1.000	C
CHD8	57680	genome.wustl.edu	37	14	21859175	21859176	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:21859175_21859176insT	ENST00000557364.1	-	37	7375_7376	c.7112_7113insA	c.(7111-7113)aatfs	p.N2371fs	CHD8_ENST00000430710.3_Frame_Shift_Ins_p.N2092fs|CHD8_ENST00000399982.2_Frame_Shift_Ins_p.N2371fs|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2371					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGCCTTATTATTTTTTTTACA	0.361																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.7113dupA	14.37:g.21859183_21859183dupT	ENSP00000451601:p.Asn2371fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N2371fs	ENST00000557364.1	37	c.7113_7112	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.361	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	42	0.00	0	-	NM_020920		21859175	21859176	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	frame_shift_ins	18	30.77	8	INS	0.915:1.000	T
CHI3L1	1116	genome.wustl.edu	37	1	203152862	203152862	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:203152862C>T	ENST00000255409.3	-	5	497	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	124					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.P124P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						GCAGAAATGGCGGTACTGACT	0.522																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											134.0	108.0	117.0					1																	203152862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.372G>A	1.37:g.203152862C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7B0|P30923|Q8IVA4|Q96HI7	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.P124	ENST00000255409.3	37	c.372	CCDS1435.1	1																																																																																			CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000133048		0.522	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	112	0.88	1	C	NM_001276		203152862	203152862	-1	no_errors	ENST00000255409	ensembl	human	known	69_37n	silent	103	29.93	44	SNP	0.000	T
CHRNB3	1142	genome.wustl.edu	37	8	42587444	42587445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:42587444_42587445insC	ENST00000289957.2	+	5	1122_1123	c.994_995insC	c.(994-996)gccfs	p.A332fs		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	332					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CCACCCCATGGCCCCCTGGGTT	0.455																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.999dupC	8.37:g.42587449_42587449dupC	ENSP00000289957:p.Ala332fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15827	Frame_Shift_Ins	INS	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.W334fs	ENST00000289957.2	37	c.994_995	CCDS6134.1	8																																																																																			CHRNB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000147432		0.455	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB3	HGNC	protein_coding	OTTHUMT00000383055.1	230	0.00	0	-			42587444	42587445	+1	no_errors	ENST00000289957	ensembl	human	known	69_37n	frame_shift_ins	142	34.86	76	INS	1.000:1.000	C
CLASP2	23122	genome.wustl.edu	37	3	33633901	33633901	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:33633901A>G	ENST00000468888.2	-	21	2103	c.2057T>C	c.(2056-2058)gTg>gCg	p.V686A	CLASP2_ENST00000480013.1_Missense_Mutation_p.V452A|CLASP2_ENST00000359576.5_Missense_Mutation_p.V685A|CLASP2_ENST00000307312.7_Missense_Mutation_p.V174A|CLASP2_ENST00000539981.1_Missense_Mutation_p.V437A|CLASP2_ENST00000461133.3_Missense_Mutation_p.V452A|CLASP2_ENST00000399362.4_Missense_Mutation_p.V685A			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	452					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGATTGAGACACCATTTTTGT	0.413																																						dbGAP											0													131.0	130.0	130.0					3																	33633901		1904	4113	6017	-	-	-	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2057T>C	3.37:g.33633901A>G	ENSP00000419974:p.Val686Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V685A	ENST00000468888.2	37	c.2054		3	.	.	.	.	.	.	.	.	.	.	A	16.01	2.999992	0.54147	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.23950	1.93;1.88;1.95	5.68	5.68	0.88126	Armadillo-type fold (1);	0.122332	0.56097	D	0.000034	T	0.42337	0.1198	L	0.48362	1.52	0.52501	D	0.999957	B;P	0.52577	0.01;0.954	B;D	0.67900	0.008;0.954	T	0.09400	-1.0676	10	0.30078	T	0.28	-6.902	14.5312	0.67926	1.0:0.0:0.0:0.0	.	452;685	O75122;F5H604	CLAP2_HUMAN;.	A	686;685;685;174;437;452;452	ENSP00000419974:V686A;ENSP00000382297:V685A;ENSP00000352581:V685A	ENSP00000304743:V174A	V	-	2	0	CLASP2	33608905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.291000	0.78721	2.172000	0.68678	0.472000	0.43445	GTG	CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.413	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	92	0.00	0	A	NM_001207044		33633901	33633901	-1	no_errors	ENST00000399362	ensembl	human	known	69_37n	missense	12	70.00	28	SNP	1.000	G
CLIC4	25932	genome.wustl.edu	37	1	25140659	25140659	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:25140659C>T	ENST00000374379.4	+	3	454	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	86	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GAAGTCAAAACGGATGTAAAT	0.408																																						dbGAP											0													84.0	89.0	87.0					1																	25140659		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.257C>T	1.37:g.25140659C>T	ENSP00000363500:p.Thr86Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.T86M	ENST00000374379.4	37	c.257	CCDS256.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.054339	0.93793	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.28069	1.63	5.85	5.85	0.93711	Glutathione S-transferase/chloride channel, C-terminal (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	M	0.86740	2.835	0.47511	D	0.999446	D;D	0.89917	1.0;1.0	D;D	0.97110	0.989;1.0	T	0.68112	-0.5495	10	0.72032	D	0.01	-13.367	18.9446	0.92616	0.0:1.0:0.0:0.0	.	66;86	B3KTR3;Q9Y696	.;CLIC4_HUMAN	M	86	ENSP00000363500:T86M	ENSP00000363500:T86M	T	+	2	0	CLIC4	25013246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.420000	0.80191	2.768000	0.95171	0.655000	0.94253	ACG	CLIC4	-	superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	ENSG00000169504		0.408	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC4	HGNC	protein_coding	OTTHUMT00000009332.1	99	0.00	0	C	NM_013943		25140659	25140659	+1	no_errors	ENST00000374379	ensembl	human	known	69_37n	missense	74	35.65	41	SNP	1.000	T
CLCA1	1179	genome.wustl.edu	37	1	86951098	86951098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:86951098C>T	ENST00000234701.3	+	7	1159	c.808C>T	c.(808-810)Cga>Tga	p.R270*	CLCA1_ENST00000394711.1_Nonsense_Mutation_p.R270*			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	270					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ATGCAATCTCCGAAGCACATG	0.388																																						dbGAP											0													137.0	115.0	123.0					1																	86951098		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.808C>T	1.37:g.86951098C>T	ENSP00000234701:p.Arg270*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Nonsense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.R270*	ENST00000234701.3	37	c.808	CCDS709.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.198588	0.98701	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	.	.	.	5.93	1.57	0.23409	.	0.233115	0.31847	N	0.006961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4609	5.6879	0.17813	0.4882:0.3466:0.0:0.1651	.	.	.	.	X	270	.	ENSP00000234701:R270X	R	+	1	2	CLCA1	86723686	0.255000	0.24002	0.997000	0.53966	0.980000	0.70556	0.175000	0.16762	0.395000	0.25257	0.655000	0.94253	CGA	CLCA1	-	tigrfam_CaCC_prot	ENSG00000016490		0.388	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	HGNC	protein_coding	OTTHUMT00000028277.1	477	0.00	0	C	NM_001285		86951098	86951098	+1	no_errors	ENST00000234701	ensembl	human	known	69_37n	nonsense	251	40.94	174	SNP	1.000	T
CLIP4	79745	genome.wustl.edu	37	2	29404500	29404500	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:29404500G>A	ENST00000320081.5	+	16	2114	c.1859G>A	c.(1858-1860)aGc>aAc	p.S620N	CLIP4_ENST00000404424.1_Missense_Mutation_p.S620N|CLIP4_ENST00000401617.2_Missense_Mutation_p.S513N|CLIP4_ENST00000481628.1_3'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	620										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTGAAGGGAGCGTGAAGCTG	0.547																																						dbGAP											0													88.0	80.0	82.0					2																	29404500		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1859G>A	2.37:g.29404500G>A	ENSP00000327009:p.Ser620Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.S622N	ENST00000320081.5	37	c.1865	CCDS1770.1	2	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174964	0.38413	.	.	ENSG00000115295	ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T	0.49720	0.77;0.77;0.77	5.6	1.42	0.22433	.	1.208470	0.05383	N	0.537566	T	0.31888	0.0811	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.23726	-1.0180	10	0.23302	T	0.38	.	14.9849	0.71339	0.0:0.7125:0.1935:0.0939	.	620	Q8N3C7	CLIP4_HUMAN	N	513;620;622;620;638;580	ENSP00000385148:S513N;ENSP00000385594:S620N;ENSP00000327009:S620N	ENSP00000327009:S620N	S	+	2	0	CLIP4	29258004	0.002000	0.14202	0.072000	0.20136	0.821000	0.46438	1.102000	0.31050	0.267000	0.21916	0.491000	0.48974	AGC	CLIP4	-	NULL	ENSG00000115295		0.547	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP4	HGNC	protein_coding	OTTHUMT00000215123.2	109	0.00	0	G	NM_024692		29404500	29404500	+1	no_errors	ENST00000402240	ensembl	human	known	69_37n	missense	56	52.54	62	SNP	0.002	A
CLTCL1	8218	genome.wustl.edu	37	22	19223299	19223299	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:19223299G>A	ENST00000263200.10	-	6	961	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R297C|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R297C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	297	Globular terminal domain.|WD40-like repeat 6.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCACTAATACGGTTCATGCAG	0.413			T	?	ALCL																																	dbGAP		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													209.0	208.0	208.0					22																	19223299		2057	4209	6266	-	-	-	SO:0001583	missense	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.889C>T	22.37:g.19223299G>A	ENSP00000445677:p.Arg297Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.R297C	ENST00000263200.10	37	c.889	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592908	0.46214	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.30714	1.52;1.52;1.52	3.65	2.62	0.31277	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.075480	0.56097	D	0.000040	T	0.65678	0.2714	H	0.96861	3.895	0.80722	D	1	B;D	0.89917	0.021;1.0	B;D	0.75484	0.016;0.986	T	0.74624	-0.3603	10	0.87932	D	0	-4.7441	11.1689	0.48560	0.0924:0.0:0.9076:0.0	.	297;297	P53675-2;P53675	.;CLH2_HUMAN	C	297	ENSP00000439662:R297C;ENSP00000445677:R297C;ENSP00000441158:R297C	ENSP00000445677:R297C	R	-	1	0	CLTCL1	17603299	1.000000	0.71417	0.988000	0.46212	0.158000	0.22134	5.561000	0.67339	0.733000	0.32492	-0.216000	0.12614	CGT	CLTCL1	-	pfam_Clathrin_H-chain_propeller_rpt,superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.413	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	220	0.00	0	G	NM_007098		19223299	19223299	-1	no_errors	ENST00000263200	ensembl	human	known	69_37n	missense	106	44.79	86	SNP	1.000	A
CMTM5	116173	genome.wustl.edu	37	14	23848547	23848547	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:23848547G>A	ENST00000339180.4	+	5	829	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	CMTM5_ENST00000342473.4_Missense_Mutation_p.A56T|CMTM5_ENST00000555731.1_Missense_Mutation_p.A100T|CMTM5_ENST00000397227.3_Missense_Mutation_p.A87T|CMTM5_ENST00000382809.2_Missense_Mutation_p.A107T|CMTM5_ENST00000359320.3_Missense_Mutation_p.A138T			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	205	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TGCCTATGATGCCTTCAAGAT	0.557																																						dbGAP											0													130.0	119.0	123.0					14																	23848547		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.613G>A	14.37:g.23848547G>A	ENSP00000344819:p.Ala205Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH91|Q5PY48	Missense_Mutation	SNP	NULL	p.A205T	ENST00000339180.4	37	c.613		14	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602874	0.87157	.	.	ENSG00000166091	ENST00000359320;ENST00000382809;ENST00000339180;ENST00000342473;ENST00000397227;ENST00000555731	T;T;T;T	0.57595	1.6;0.39;0.67;0.76	5.44	5.44	0.79542	Marvel (1);	0.308438	0.28409	N	0.015460	T	0.61048	0.2316	N	0.19112	0.55	0.38070	D	0.936337	D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;0.999	D;D;D;D;D	0.85130	0.957;0.994;0.995;0.995;0.997	T	0.67461	-0.5665	10	0.87932	D	0	-4.4436	18.2031	0.89846	0.0:0.0:1.0:0.0	.	100;205;87;107;138	C9JAI6;Q96DZ9;Q96DZ9-5;E9PH91;Q96DZ9-2	.;CKLF5_HUMAN;.;.;.	T	138;107;205;56;87;100	ENSP00000352270:A138T;ENSP00000372259:A107T;ENSP00000344819:A205T;ENSP00000451514:A100T	ENSP00000344819:A205T	A	+	1	0	CMTM5	22918387	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.788000	0.55446	2.837000	0.97791	0.655000	0.94253	GCC	CMTM5	-	NULL	ENSG00000166091		0.557	CMTM5-003	KNOWN	basic	protein_coding	CMTM5	HGNC	protein_coding	OTTHUMT00000133708.2	79	0.00	0	G			23848547	23848547	+1	no_errors	ENST00000339180	ensembl	human	known	69_37n	missense	55	36.36	32	SNP	1.000	A
CMYA5	202333	genome.wustl.edu	37	5	79033022	79033022	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:79033022C>T	ENST00000446378.2	+	2	8465	c.8434C>T	c.(8434-8436)Ctg>Ttg	p.L2812L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2812					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCCATATTTGCTGTCACCTGT	0.393																																						dbGAP											0													31.0	32.0	31.0					5																	79033022		1836	4081	5917	-	-	-	SO:0001819	synonymous_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8434C>T	5.37:g.79033022C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.L2812	ENST00000446378.2	37	c.8434	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	277	0.00	0	C	NM_153610		79033022	79033022	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	silent	129	39.44	84	SNP	0.000	T
CMYA5	202333	genome.wustl.edu	37	5	79086813	79086813	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:79086813A>G	ENST00000446378.2	+	11	11741	c.11710A>G	c.(11710-11712)Aga>Gga	p.R3904G	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3904	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTCTTGTTGAGAGAAACAGC	0.463																																						dbGAP											0													78.0	74.0	75.0					5																	79086813		1968	4155	6123	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11710A>G	5.37:g.79086813A>G	ENSP00000394770:p.Arg3904Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.R3904G	ENST00000446378.2	37	c.11710	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895678	0.52121	.	.	ENSG00000164309	ENST00000446378	T	0.13901	2.55	6.05	3.52	0.40303	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.21427	0.0516	N	0.20685	0.6	0.35968	D	0.835131	D	0.89917	1.0	D	0.71184	0.972	T	0.23833	-1.0177	9	0.72032	D	0.01	.	12.8292	0.57736	0.7432:0.2568:0.0:0.0	.	3904	Q8N3K9	CMYA5_HUMAN	G	3904	ENSP00000394770:R3904G	ENSP00000394770:R3904G	R	+	1	2	CMYA5	79122569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.874000	0.48483	1.090000	0.41315	0.528000	0.53228	AGA	CMYA5	-	superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000164309		0.463	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	49	0.00	0	A	NM_153610		79086813	79086813	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	1.000	G
CNPPD1	27013	genome.wustl.edu	37	2	220037699	220037699	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:220037699C>T	ENST00000409789.1	-	9	1269	c.842G>A	c.(841-843)tGc>tAc	p.C281Y	SLC23A3_ENST00000409878.3_5'Flank|SLC23A3_ENST00000295738.7_5'Flank|CNPPD1_ENST00000360507.5_Missense_Mutation_p.C281Y|SLC23A3_ENST00000455516.2_5'Flank|SLC23A3_ENST00000396775.3_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	281					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						AGAAGGTATGCAGGGCTCCAG	0.617																																						dbGAP											0													116.0	93.0	101.0					2																	220037699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.842G>A	2.37:g.220037699C>T	ENSP00000386277:p.Cys281Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	pfam_Cyclin_PHO80-like,superfamily_Cyclin-like	p.C281Y	ENST00000409789.1	37	c.842	CCDS2433.1	2	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541627	0.45280	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038	T;T;T	0.34667	2.42;2.42;1.35	5.03	4.16	0.48862	.	0.600838	0.17566	N	0.169640	T	0.17195	0.0413	L	0.29908	0.895	0.21822	N	0.999521	P	0.39576	0.679	B	0.34722	0.188	T	0.17501	-1.0367	10	0.02654	T	1	-15.3794	3.9354	0.09304	0.1649:0.5879:0.1595:0.0877	.	281	Q9BV87	CNPD1_HUMAN	Y	281	ENSP00000353698:C281Y;ENSP00000386277:C281Y;ENSP00000410109:C281Y	ENSP00000353698:C281Y	C	-	2	0	CNPPD1	219745943	0.457000	0.25752	0.833000	0.33012	0.839000	0.47603	0.711000	0.25764	1.352000	0.45808	0.655000	0.94253	TGC	CNPPD1	-	NULL	ENSG00000115649		0.617	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNPPD1	HGNC	protein_coding	OTTHUMT00000336220.1	70	0.00	0	C	NM_015680		220037699	220037699	-1	no_errors	ENST00000360507	ensembl	human	known	69_37n	missense	47	46.59	41	SNP	0.464	T
CNTN4	152330	genome.wustl.edu	37	3	2908567	2908567	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:2908567G>T	ENST00000397461.1	+	7	970	c.586G>T	c.(586-588)Gtt>Ttt	p.V196F	CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.V196F|CNTN4_ENST00000418658.1_Missense_Mutation_p.V196F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	196	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TACCTGTGTGGTTACCAATAC	0.398																																						dbGAP											0													119.0	111.0	113.0					3																	2908567		1845	4087	5932	-	-	-	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.586G>T	3.37:g.2908567G>T	ENSP00000380602:p.Val196Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V196F	ENST00000397461.1	37	c.586	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890772	0.91889	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	T;T;T	0.71934	-0.61;-0.61;-0.61	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88753	0.6522	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91540	0.5249	10	0.87932	D	0	.	19.0488	0.93034	0.0:0.0:1.0:0.0	.	196;196	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	F	196	ENSP00000396010:V196F;ENSP00000380602:V196F;ENSP00000413642:V196F	ENSP00000380602:V196F	V	+	1	0	CNTN4	2883567	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.640000	0.98453	2.489000	0.83994	0.655000	0.94253	GTT	CNTN4	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000144619		0.398	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	190	0.00	0	G			2908567	2908567	+1	no_errors	ENST00000397461	ensembl	human	known	69_37n	missense	112	41.05	78	SNP	1.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	125504942	125504942	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:125504942C>T	ENST00000431078.1	+	14	2575	c.2211C>T	c.(2209-2211)tgC>tgT	p.C737C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	737	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTGCAATTGCGACGCTGACA	0.478																																						dbGAP											0													148.0	143.0	145.0					2																	125504942		2092	4231	6323	-	-	-	SO:0001819	synonymous_variant	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2211C>T	2.37:g.125504942C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.C737	ENST00000431078.1	37	c.2211	CCDS46401.1	2																																																																																			CNTNAP5	-	NULL	ENSG00000155052		0.478	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	427	0.47	2	C			125504942	125504942	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	silent	262	43.80	205	SNP	0.999	T
COL17A1	1308	genome.wustl.edu	37	10	105797411	105797411	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:105797411A>G	ENST00000353479.5	-	46	3481	c.3191T>C	c.(3190-3192)gTt>gCt	p.V1064A	COL17A1_ENST00000369733.3_Missense_Mutation_p.V1019A	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1064	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTAGCTCACAACGTGGCTTGC	0.607																																						dbGAP											0													113.0	109.0	110.0					10																	105797411		2203	4300	6503	-	-	-	SO:0001583	missense	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3191T>C	10.37:g.105797411A>G	ENSP00000340937:p.Val1064Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.V1064A	ENST00000353479.5	37	c.3191	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	A	10.72	1.431027	0.25726	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.93307	-3.2;-3.14	5.27	5.27	0.74061	.	0.000000	0.42172	D	0.000751	D	0.93983	0.8073	L	0.46741	1.465	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.91345	0.5100	10	0.08381	T	0.77	-17.6621	13.4256	0.61024	1.0:0.0:0.0:0.0	.	1064	Q9UMD9	COHA1_HUMAN	A	1064;1019	ENSP00000340937:V1064A;ENSP00000358748:V1019A	ENSP00000340937:V1064A	V	-	2	0	COL17A1	105787401	0.991000	0.36638	0.447000	0.26932	0.055000	0.15305	5.492000	0.66893	1.980000	0.57719	0.459000	0.35465	GTT	COL17A1	-	NULL	ENSG00000065618		0.607	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	96	0.00	0	A	NM_130778, NM_000494		105797411	105797411	-1	no_errors	ENST00000353479	ensembl	human	known	69_37n	missense	46	36.99	27	SNP	0.982	G
COL19A1	1310	genome.wustl.edu	37	6	70778332	70778332	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:70778332A>G	ENST00000322773.4	+	15	1290	c.1188A>G	c.(1186-1188)caA>caG	p.Q396Q	COL19A1_ENST00000393344.1_Silent_p.Q18Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	396	Collagen-like 3.|Triple-helical region 2 (COL2).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGGGGATACAAGGCCCCCAAG	0.423																																						dbGAP											0													101.0	93.0	96.0					6																	70778332		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1188A>G	6.37:g.70778332A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.Q396	ENST00000322773.4	37	c.1188	CCDS4970.1	6																																																																																			COL19A1	-	pfam_Collagen	ENSG00000082293		0.423	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	172	0.00	0	A			70778332	70778332	+1	no_errors	ENST00000322773	ensembl	human	known	69_37n	silent	121	31.25	55	SNP	0.916	G
COL25A1	84570	genome.wustl.edu	37	4	109782110	109782110	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:109782110T>C	ENST00000399132.1	-	23	1745	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K	COL25A1_ENST00000399126.1_Silent_p.K405K|COL25A1_ENST00000399127.1_Silent_p.K386K	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CAGAGTCCCCTTTTTCTCCAC	0.443																																						dbGAP											0													88.0	92.0	91.0					4																	109782110		1866	4094	5960	-	-	-	SO:0001819	synonymous_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1215A>G	4.37:g.109782110T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Collagen	p.K405	ENST00000399132.1	37	c.1215	CCDS43258.1	4																																																																																			COL25A1	-	pfam_Collagen	ENSG00000188517		0.443	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	146	0.68	1	T	NM_032518		109782110	109782110	-1	no_errors	ENST00000399132	ensembl	human	known	69_37n	silent	96	39.24	62	SNP	0.993	C
COL27A1	85301	genome.wustl.edu	37	9	116993404	116993404	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:116993404G>A	ENST00000356083.3	+	15	2903	c.2512G>A	c.(2512-2514)Ggc>Agc	p.G838S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	838	Collagen-like 4.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGACCCAAGGGCATGAAGGT	0.587																																						dbGAP											0													115.0	101.0	105.0					9																	116993404		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2512G>A	9.37:g.116993404G>A	ENSP00000348385:p.Gly838Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.G838S	ENST00000356083.3	37	c.2512	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809760	0.70797	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99329	-5.75	5.77	5.77	0.91146	.	.	.	.	.	D	0.99576	0.9847	H	0.94808	3.585	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.98111	1.0420	9	0.87932	D	0	.	15.4962	0.75653	0.0:0.0:1.0:0.0	.	838	Q8IZC6	CORA1_HUMAN	S	838	ENSP00000348385:G838S	ENSP00000348385:G838S	G	+	1	0	COL27A1	116033225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.746000	0.74866	2.744000	0.94065	0.561000	0.74099	GGC	COL27A1	-	pfam_Collagen	ENSG00000196739		0.587	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	50	0.00	0	G	NM_032888		116993404	116993404	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	missense	51	28.17	20	SNP	1.000	A
COL28A1	340267	genome.wustl.edu	37	7	7413108	7413108	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:7413108C>T	ENST00000399429.3	-	32	2569	c.2429G>A	c.(2428-2430)gGg>gAg	p.G810E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	810	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTTCTCTGGCCCCACGCTTTC	0.463																																						dbGAP											0													88.0	89.0	88.0					7																	7413108		1868	4106	5974	-	-	-	SO:0001583	missense	0			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2429G>A	7.37:g.7413108C>T	ENSP00000382356:p.Gly810Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.G810E	ENST00000399429.3	37	c.2429	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682407	0.88542	.	.	ENSG00000215018	ENST00000399429	T	0.81163	-1.46	4.44	4.44	0.53790	von Willebrand factor, type A (3);	0.167186	0.37623	U	0.002001	D	0.91710	0.7379	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92012	0.5619	10	0.36615	T	0.2	-6.2646	17.6535	0.88171	0.0:1.0:0.0:0.0	.	810	Q2UY09	COSA1_HUMAN	E	810	ENSP00000382356:G810E	ENSP00000382356:G810E	G	-	2	0	COL28A1	7379633	1.000000	0.71417	0.986000	0.45419	0.969000	0.65631	7.511000	0.81718	2.461000	0.83175	0.655000	0.94253	GGG	COL28A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000215018		0.463	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1	201	0.00	0	C	NM_001037763		7413108	7413108	-1	no_errors	ENST00000399429	ensembl	human	known	69_37n	missense	118	37.23	70	SNP	1.000	T
COL4A3BP	10087	genome.wustl.edu	37	5	74698843	74698843	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:74698843T>C	ENST00000405807.4	-	9	1392	c.971A>G	c.(970-972)gAt>gGt	p.D324G	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D324G|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.D452G	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	324					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTCAACAGCATCAAAGAACTC	0.323																																						dbGAP											0													104.0	111.0	109.0					5																	74698843		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.971A>G	5.37:g.74698843T>C	ENSP00000383996:p.Asp324Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.D452G	ENST00000405807.4	37	c.1355	CCDS4028.1	5	.	.	.	.	.	.	.	.	.	.	T	27.6	4.841998	0.91197	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.73897	-0.5;-0.79;-0.35	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.992	T	0.82839	-0.0259	10	0.66056	D	0.02	-1.72	15.9301	0.79651	0.0:0.0:0.0:1.0	.	324;452;324	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	G	324;452;324	ENSP00000383996:D324G;ENSP00000369862:D452G;ENSP00000261415:D324G	ENSP00000261415:D324G	D	-	2	0	COL4A3BP	74734599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.242000	0.73789	0.482000	0.46254	GAT	COL4A3BP	-	NULL	ENSG00000113163		0.323	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	194	0.00	0	T	NM_005713		74698843	74698843	-1	no_errors	ENST00000380494	ensembl	human	known	69_37n	missense	79	43.57	61	SNP	1.000	C
COL4A4	1286	genome.wustl.edu	37	2	227942676	227942676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:227942676G>A	ENST00000396625.3	-	25	2128	c.1921C>T	c.(1921-1923)Cga>Tga	p.R641*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.R641*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	641	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGTGGCCTCGCTCTCCTGGT	0.552																																						dbGAP											0													25.0	28.0	27.0					2																	227942676		1815	4069	5884	-	-	-	SO:0001587	stop_gained	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1921C>T	2.37:g.227942676G>A	ENSP00000379866:p.Arg641*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R641*	ENST00000396625.3	37	c.1921	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.973741	0.97162	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.82	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6281	0.56640	0.0:0.0:0.4643:0.5357	.	.	.	.	X	641	.	ENSP00000328553:R641X	R	-	1	2	COL4A4	227650920	0.039000	0.19947	0.278000	0.24718	0.107000	0.19398	0.648000	0.24828	0.434000	0.26340	-0.284000	0.09977	CGA	COL4A4	-	pfam_Collagen	ENSG00000081052		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	61	0.00	0	G	NM_000092		227942676	227942676	-1	no_errors	ENST00000396625	ensembl	human	known	69_37n	nonsense	44	45.00	36	SNP	0.330	A
COL4A6	1288	genome.wustl.edu	37	X	107434675	107434675	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:107434675G>A	ENST00000372216.4	-	19	1372	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	COL4A6_ENST00000538570.1_Silent_p.G423G|COL4A6_ENST00000394872.2_Silent_p.G424G|COL4A6_ENST00000545689.1_Silent_p.G423G|COL4A6_ENST00000334504.7_Silent_p.G423G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	424	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGCCAGGGAGGCCAGCTGCTC	0.552									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													154.0	136.0	142.0					X																	107434675		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1272C>T	X.37:g.107434675G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G424	ENST00000372216.4	37	c.1272	CCDS14541.1	X																																																																																			COL4A6	-	NULL	ENSG00000197565		0.552	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	171	0.00	0	G			107434675	107434675	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	silent	109	41.97	81	SNP	0.224	A
COL5A1	1289	genome.wustl.edu	37	9	137671963	137671963	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:137671963C>T	ENST00000371817.3	+	28	2815	c.2401C>T	c.(2401-2403)Cgt>Tgt	p.R801C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	801	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGATGGCATCCGTGGTCTGAA	0.602																																						dbGAP											0													94.0	98.0	97.0					9																	137671963		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2401C>T	9.37:g.137671963C>T	ENSP00000360882:p.Arg801Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.R801C	ENST00000371817.3	37	c.2401	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724738	0.68959	.	.	ENSG00000130635	ENST00000371817	D	0.93712	-3.27	3.99	3.99	0.46301	.	.	.	.	.	D	0.96846	0.8970	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97729	1.0201	9	0.87932	D	0	.	15.2143	0.73250	0.0:1.0:0.0:0.0	.	801	P20908	CO5A1_HUMAN	C	801	ENSP00000360882:R801C	ENSP00000360882:R801C	R	+	1	0	COL5A1	136811784	1.000000	0.71417	0.993000	0.49108	0.575000	0.36095	6.513000	0.73742	1.933000	0.56026	0.655000	0.94253	CGT	COL5A1	-	NULL	ENSG00000130635		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	8	0.00	0	C	NM_000093		137671963	137671963	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	missense	7	61.11	11	SNP	1.000	T
COL6A2	1292	genome.wustl.edu	37	21	47532002	47532002	+	Silent	SNP	G	G	A	rs143678454		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:47532002G>A	ENST00000300527.4	+	3	329	c.225G>A	c.(223-225)ccG>ccA	p.P75P	COL6A2_ENST00000397763.1_Silent_p.P75P|COL6A2_ENST00000409416.1_Silent_p.P75P|COL6A2_ENST00000310645.5_Silent_p.P75P|COL6A2_ENST00000357838.4_Silent_p.P75P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	75	Nonhelical region.|VWFA 1. {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)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTTCGTGCCGCAGTTCATCA	0.607																																						dbGAP											0													91.0	64.0	73.0					21																	47532002		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.225G>A	21.37:g.47532002G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.P75	ENST00000300527.4	37	c.225	CCDS13728.1	21																																																																																			COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142173		0.607	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	13	0.00	0	G			47532002	47532002	+1	no_errors	ENST00000300527	ensembl	human	known	69_37n	silent	13	55.17	16	SNP	0.000	A
COL7A1	1294	genome.wustl.edu	37	3	48621800	48621801	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:48621800_48621801insG	ENST00000328333.8	-	36	4234_4235	c.4127_4128insC	c.(4126-4128)cctfs	p.P1376fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.P1376fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1376	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACGAGGTCCAGGGGGGCCCTG	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4128dupC	3.37:g.48621806_48621806dupG	ENSP00000332371:p.Pro1376fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14054|Q16507	Frame_Shift_Ins	INS	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G1377fs	ENST00000328333.8	37	c.4128_4127	CCDS2773.1	3																																																																																			COL7A1	-	NULL	ENSG00000114270		0.624	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	29	0.00	0	-	NM_000094		48621800	48621801	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	frame_shift_ins	12	47.83	11	INS	0.916:0.893	G
COPA	1314	genome.wustl.edu	37	1	160280018	160280018	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:160280018T>C	ENST00000241704.7	-	12	1336	c.1107A>G	c.(1105-1107)tcA>tcG	p.S369S	COPA_ENST00000368069.3_Silent_p.S369S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	369					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGATTGTATGACATATTGA	0.403																																						dbGAP											0													137.0	140.0	139.0					1																	160280018		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1107A>G	1.37:g.160280018T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T201|Q8IXZ9	Silent	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S369	ENST00000241704.7	37	c.1107	CCDS1202.1	1																																																																																			COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.403	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	339	0.29	1	T	NM_004371		160280018	160280018	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	silent	365	26.26	130	SNP	0.910	C
COQ6	51004	genome.wustl.edu	37	14	74425732	74425732	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:74425732G>A	ENST00000334571.2	+	6	711	c.671G>A	c.(670-672)aGc>aAc	p.S224N	COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.S149N|COQ6_ENST00000394026.4_Missense_Mutation_p.S199N|ENTPD5_ENST00000557325.1_3'UTR	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	224					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CAGAATGTGAGCTGGAACTAT	0.498																																						dbGAP											0													164.0	137.0	146.0					14																	74425732		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.671G>A	14.37:g.74425732G>A	ENSP00000333946:p.Ser224Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases	p.S224N	ENST00000334571.2	37	c.671	CCDS9823.1	14	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988547	0.53934	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000557584;ENST00000554320	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.65	5.65	0.86999	Monooxygenase, FAD-binding (1);	0.266751	0.48767	D	0.000162	T	0.41581	0.1165	L	0.41573	1.285	0.80722	D	1	B;B;B;B;B;B	0.29766	0.256;0.006;0.006;0.097;0.009;0.018	B;B;B;B;B;B	0.41174	0.349;0.023;0.024;0.053;0.02;0.042	T	0.27739	-1.0065	10	0.17832	T	0.49	-9.6069	6.8382	0.23947	0.1941:0.0:0.8059:0.0	.	169;199;224;149;149;149	B7Z8E9;B7Z3K8;Q9Y2Z9;G3V3A1;G3XA86;Q86U30	.;.;COQ6_HUMAN;.;.;.	N	199;149;149;224;169;149	ENSP00000377594:S199N;ENSP00000238709:S149N;ENSP00000333946:S224N;ENSP00000451123:S149N	ENSP00000238709:S149N	S	+	2	0	COQ6	73495485	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	4.051000	0.57412	2.941000	0.99782	0.655000	0.94253	AGC	COQ6	-	pfam_mOase_FAD-bd,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases	ENSG00000119723		0.498	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ6	HGNC	protein_coding	OTTHUMT00000412616.1	93	0.00	0	G			74425732	74425732	+1	no_errors	ENST00000334571	ensembl	human	known	69_37n	missense	64	43.36	49	SNP	0.989	A
CPA6	57094	genome.wustl.edu	37	8	68430186	68430186	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:68430186A>G	ENST00000297770.4	-	3	504	c.289T>C	c.(289-291)Ttc>Ctc	p.F97L	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.F97L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	97						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCCTGTAAGAAGGCTAACAGG	0.433																																						dbGAP											0													138.0	131.0	134.0					8																	68430186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.289T>C	8.37:g.68430186A>G	ENSP00000297770:p.Phe97Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.F97L	ENST00000297770.4	37	c.289	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970852	0.34754	.	.	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.12984	2.63;2.63	6.06	4.88	0.63580	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.227243	0.48767	D	0.000161	T	0.11239	0.0274	L	0.45422	1.42	0.80722	D	1	B;B	0.24920	0.114;0.002	B;B	0.20955	0.032;0.009	T	0.04537	-1.0944	10	0.07325	T	0.83	.	12.5826	0.56399	0.8756:0.0:0.0:0.1244	.	97;97	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	L	97	ENSP00000297770:F97L;ENSP00000431112:F97L	ENSP00000297770:F97L	F	-	1	0	CPA6	68592740	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.260000	0.58835	1.078000	0.41014	0.533000	0.62120	TTC	CPA6	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000165078		0.433	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	204	0.00	0	A	NM_020361		68430186	68430186	-1	no_errors	ENST00000297770	ensembl	human	known	69_37n	missense	77	43.48	60	SNP	1.000	G
CPAMD8	27151	genome.wustl.edu	37	19	17025577	17025577	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:17025577T>C	ENST00000443236.1	-	28	3848	c.3817A>G	c.(3817-3819)Atc>Gtc	p.I1273V		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1226						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCCACGAAGATAAAGCTGCGA	0.612																																						dbGAP											0													34.0	39.0	37.0					19																	17025577		2008	4174	6182	-	-	-	SO:0001583	missense	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3817A>G	19.37:g.17025577T>C	ENSP00000402505:p.Ile1273Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.I1273V	ENST00000443236.1	37	c.3817	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	T	8.523	0.869223	0.17322	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.04	3.04	0.35103	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.64402	U	0.000001	T	0.56441	0.1985	L	0.56280	1.765	0.80722	D	1	B	0.23316	0.083	B	0.28991	0.097	T	0.53961	-0.8364	9	0.34782	T	0.22	.	11.2279	0.48895	0.0:0.0:0.0:1.0	.	1226	Q8IZJ3	CPMD8_HUMAN	V	1273	.	ENSP00000291440:I1273V	I	-	1	0	CPAMD8	16886577	1.000000	0.71417	0.953000	0.39169	0.311000	0.27955	3.778000	0.55371	1.044000	0.40200	0.454000	0.30748	ATC	CPAMD8	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000160111		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	17	0.00	0	T	NM_015692		17025577	17025577	-1	no_errors	ENST00000291440	ensembl	human	known	69_37n	missense	5	72.22	13	SNP	1.000	C
CPEB4	80315	genome.wustl.edu	37	5	173378904	173378904	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:173378904T>C	ENST00000265085.5	+	8	3197	c.1743T>C	c.(1741-1743)acT>acC	p.T581T	CPEB4_ENST00000519835.1_Silent_p.T556T|CPEB4_ENST00000334035.5_Silent_p.T564T|CPEB4_ENST00000517880.1_Silent_p.T174T|CPEB4_ENST00000520867.1_Silent_p.T556T|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Silent_p.T191T	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	581	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACGAAAAACTATATTTGTTG	0.428																																						dbGAP											0													167.0	143.0	151.0					5																	173378904		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1743T>C	5.37:g.173378904T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T581	ENST00000265085.5	37	c.1743	CCDS4390.1	5																																																																																			CPEB4	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000113742		0.428	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	124	0.00	0	T	NM_030627		173378904	173378904	+1	no_errors	ENST00000265085	ensembl	human	known	69_37n	silent	75	40.48	51	SNP	1.000	C
CPNE4	131034	genome.wustl.edu	37	3	131261488	131261488	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:131261488G>A	ENST00000512055.1	-	19	3578	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	CPNE4_ENST00000512332.1_Silent_p.D502D|CPNE4_ENST00000429747.1_Silent_p.D484D|CPNE4_ENST00000502818.1_Silent_p.D502D|CPNE4_ENST00000511604.1_Silent_p.D484D			Q96A23	CPNE4_HUMAN	copine IV	484	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CATCATCACCGTCCAGCATCT	0.547																																						dbGAP											0													176.0	148.0	158.0					3																	131261488		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1452C>T	3.37:g.131261488G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNC5|Q8TEX1	Silent	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.D502	ENST00000512055.1	37	c.1506	CCDS3072.1	3																																																																																			CPNE4	-	smart_VWF_A	ENSG00000196353		0.547	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	103	0.00	0	G	NM_130808		131261488	131261488	-1	no_errors	ENST00000502818	ensembl	human	known	69_37n	silent	67	30.93	30	SNP	0.022	A
CPSF3	51692	genome.wustl.edu	37	2	9607849	9607849	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:9607849G>T	ENST00000238112.3	+	16	2006	c.1800G>T	c.(1798-1800)aaG>aaT	p.K600N	CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000460593.1_Missense_Mutation_p.K563N	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	600					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CAGTACAGAAGGTTTCTAAAA	0.368																																					Colon(194;1259 2048 3845 5218 19985)	dbGAP											0													73.0	73.0	73.0					2																	9607849		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1800G>T	2.37:g.9607849G>T	ENSP00000238112:p.Lys600Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.K600N	ENST00000238112.3	37	c.1800	CCDS1664.1	2	.	.	.	.	.	.	.	.	.	.	G	9.096	1.003017	0.19121	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000460593	T;T	0.44881	0.91;0.92	5.72	2.93	0.34026	-end-processing endonuclease polyadenylation factor C-term (1);Pre-mRNA 3&apos (1);	0.356820	0.32533	N	0.005964	T	0.26304	0.0642	L	0.35854	1.095	0.35121	D	0.767046	B	0.02656	0.0	B	0.06405	0.002	T	0.17684	-1.0361	10	0.15952	T	0.53	-1.9807	5.401	0.16297	0.2183:0.0:0.631:0.1507	.	600	Q9UKF6	CPSF3_HUMAN	N	600;322;563	ENSP00000238112:K600N;ENSP00000418957:K563N	ENSP00000238112:K600N	K	+	3	2	CPSF3	9525300	0.932000	0.31603	0.897000	0.35233	0.972000	0.66771	0.944000	0.29043	0.751000	0.32900	0.591000	0.81541	AAG	CPSF3	-	pfam_CPSF73-100_C	ENSG00000119203		0.368	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3	HGNC	protein_coding	OTTHUMT00000206843.1	96	0.00	0	G	NM_016207		9607849	9607849	+1	no_errors	ENST00000238112	ensembl	human	known	69_37n	missense	78	35.00	42	SNP	0.814	T
CRAT	1384	genome.wustl.edu	37	9	131864221	131864221	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:131864221C>T	ENST00000318080.2	-	6	1040	c.746G>A	c.(745-747)gGc>gAc	p.G249D	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	249					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GGTGAGGATGCCCACAGGCTC	0.592																																						dbGAP											0													189.0	160.0	170.0					9																	131864221		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.746G>A	9.37:g.131864221C>T	ENSP00000315013:p.Gly249Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T952|Q9BW16	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.G249D	ENST00000318080.2	37	c.746	CCDS6919.1	9	.	.	.	.	.	.	.	.	.	.	C	31	5.063018	0.93898	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.92099	-2.97	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98327	1.0531	10	0.87932	D	0	-47.7566	16.7677	0.85528	0.0:1.0:0.0:0.0	.	249	P43155	CACP_HUMAN	D	249	ENSP00000315013:G249D	ENSP00000315013:G249D	G	-	2	0	CRAT	130904042	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.580000	0.82523	2.422000	0.82143	0.561000	0.74099	GGC	CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.592	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1	31	0.00	0	C			131864221	131864221	-1	no_errors	ENST00000318080	ensembl	human	known	69_37n	missense	15	42.31	11	SNP	1.000	T
CREBBP	1387	genome.wustl.edu	37	16	3795332	3795332	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:3795332C>T	ENST00000262367.5	-	22	4669	c.3860G>A	c.(3859-3861)gGc>gAc	p.G1287D	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1249D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1287	Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CATCTTCCGGCCACACTCCTT	0.517			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													128.0	88.0	102.0					16																	3795332		2197	4300	6497	-	-	-	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3860G>A	16.37:g.3795332C>T	ENSP00000262367:p.Gly1287Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_Histone_H3-K56_AcTrfase_RTT109,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.W160*	ENST00000262367.5	37	c.480	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507089	0.64410	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.98701	-5.08;-5.08	5.41	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.86178	2.8	0.80722	D	1	B;B	0.20261	0.043;0.043	B;B	0.27170	0.077;0.077	D	0.98054	1.0389	10	0.52906	T	0.07	-12.7972	16.6105	0.84881	0.0:0.87:0.13:0.0	.	1317;1287	Q4LE28;Q92793	.;CBP_HUMAN	D	1287;1317;1249	ENSP00000262367:G1287D;ENSP00000371502:G1249D	ENSP00000262367:G1287D	G	-	2	0	CREBBP	3735333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.652000	0.61454	1.418000	0.47098	0.655000	0.94253	GGC	CREBBP	-	superfamily_Bromodomain,superfamily_Znf_FYVE_PHD	ENSG00000005339		0.517	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	68	0.00	0	C	NM_004380		3795332	3795332	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000570939	ensembl	human	novel	69_37n	nonsense	49	27.94	19	SNP	1.000	T
CSF2RA	1438	genome.wustl.edu	37	X	1428415	1428415	+	3'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:1428415C>T	ENST00000381524.3	+	0	1432				CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A356V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCCGCCTCCGCGACACGGGGG	0.498																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	dbGAP											0													255.0	236.0	242.0					X																	1428415		2203	4296	6499	-	-	-	SO:0001624	3_prime_UTR_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*43C>T	X.37:g.1428415C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.A356V	ENST00000381524.3	37	c.1067	CCDS35191.1	X	.	.	.	.	.	.	.	.	.	.	.	10.37	1.331341	0.24167	.	.	ENSG00000198223	ENST00000355432	T	0.43688	0.94	0.69	-1.38	0.09027	.	.	.	.	.	T	0.26376	0.0644	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.21008	-1.0258	7	0.87932	D	0	.	.	.	.	.	357	P15509-5	.	V	356	ENSP00000347606:A356V	ENSP00000347606:A356V	A	+	2	0	CSF2RA	1388415	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.285000	0.01153	-1.000000	0.03438	0.110000	0.15639	GCG	CSF2RA	-	NULL	ENSG00000198223		0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	328	0.00	0	C			1428415	1428415	+1	no_errors	ENST00000355432	ensembl	human	known	69_37n	missense	347	47.42	313	SNP	0.000	T
CSMD1	64478	genome.wustl.edu	37	8	2807843	2807843	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:2807843G>A	ENST00000520002.1	-	68	10782	c.10227C>T	c.(10225-10227)gcC>gcT	p.A3409A	CSMD1_ENST00000400186.3_Silent_p.A3232A|CSMD1_ENST00000542608.1_Silent_p.A3231A|CSMD1_ENST00000602557.1_Silent_p.A3409A|CSMD1_ENST00000602723.1_Silent_p.A3232A|CSMD1_ENST00000537824.1_Silent_p.A3408A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3409						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGAGTAAGTGGGCCTCCTCCT	0.393																																						dbGAP											0													127.0	125.0	126.0					8																	2807843		1852	4083	5935	-	-	-	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10227C>T	8.37:g.2807843G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P2811S	ENST00000520002.1	37	c.8431		8	.	.	.	.	.	.	.	.	.	.	G	9.666	1.145370	0.21288	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.14	-2.15	0.07102	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31280	-0.9949	4	.	.	.	.	2.4539	0.04524	0.383:0.1161:0.3829:0.1181	.	.	.	.	S	2811	.	.	P	-	1	0	CSMD1	2795250	0.836000	0.29430	0.997000	0.53966	0.883000	0.51084	-0.045000	0.12003	-0.083000	0.12618	-0.148000	0.13756	CCA	CSMD1	-	NULL	ENSG00000183117		0.393	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	174	0.00	0	G	NM_033225		2807843	2807843	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000335551	ensembl	human	novel	69_37n	missense	87	42.76	65	SNP	0.989	A
CSMD3	114788	genome.wustl.edu	37	8	113241029	113241029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:113241029delA	ENST00000297405.5	-	70	11164	c.10920delT	c.(10918-10920)tttfs	p.F3640fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3640						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAGTGCAAAAAAAGGCA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													78.0	81.0	80.0					8																	113241029		2203	4297	6500	-	-	-	SO:0001589	frameshift_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10920delT	8.37:g.113241029delA	ENSP00000297405:p.Phe3640fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Frame_Shift_Del	DEL	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.F3640fs	ENST00000297405.5	37	c.10920	CCDS6315.1	8																																																																																			CSMD3	-	NULL	ENSG00000164796		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	219	0.90	2	A	NM_052900		113241029	113241029	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	frame_shift_del	106	42.55	80	DEL	1.000	-
CSPP1	79848	genome.wustl.edu	37	8	68105743	68105743	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:68105743A>T	ENST00000262210.5	+	28	3391	c.3360A>T	c.(3358-3360)aaA>aaT	p.K1120N	CSPP1_ENST00000521168.1_Intron|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Missense_Mutation_p.K775N	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1155					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCTCTCTAAAATCTATATCCA	0.343																																						dbGAP											0													138.0	132.0	134.0					8																	68105743		1871	4100	5971	-	-	-	SO:0001583	missense	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3360A>T	8.37:g.68105743A>T	ENSP00000262210:p.Lys1120Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.K1120N	ENST00000262210.5	37	c.3360	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	A	8.808	0.934503	0.18206	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.30981	1.51;1.55;1.55	5.73	-1.77	0.07982	.	0.407810	0.26279	N	0.025287	T	0.14485	0.0350	L	0.28274	0.84	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.003	T	0.06752	-1.0809	10	0.31617	T	0.26	-16.478	2.9403	0.05828	0.209:0.3972:0.2846:0.1092	.	775;1120;1155	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	N	1120;1155;775;775	ENSP00000262210:K1120N;ENSP00000415782:K775N;ENSP00000430092:K775N	ENSP00000262210:K1120N	K	+	3	2	CSPP1	68268297	0.866000	0.29940	0.995000	0.50966	0.140000	0.21249	-0.162000	0.10012	0.030000	0.15379	-0.250000	0.11733	AAA	CSPP1	-	NULL	ENSG00000104218		0.343	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	180	0.00	0	A	NM_024790		68105743	68105743	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	missense	69	48.51	65	SNP	0.993	T
CSMD3	114788	genome.wustl.edu	37	8	113276019	113276019	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:113276019G>A	ENST00000297405.5	-	61	9955	c.9711C>T	c.(9709-9711)ccC>ccT	p.P3237P	CSMD3_ENST00000455883.2_Silent_p.P3068P|CSMD3_ENST00000343508.3_Silent_p.P3197P|CSMD3_ENST00000352409.3_Silent_p.P3167P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3237	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGAGATCTGGGGAGGAGTTG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													70.0	66.0	67.0					8																	113276019		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9711C>T	8.37:g.113276019G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P3237	ENST00000297405.5	37	c.9711	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	287	0.00	0	G	NM_052900		113276019	113276019	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	silent	124	39.81	82	SNP	0.991	A
CST1	1469	genome.wustl.edu	37	20	23729700	23729700	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:23729700G>A	ENST00000304749.2	-	2	365	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	CST1_ENST00000398402.1_Missense_Mutation_p.P99S	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	99					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TCCAAGTTGGGCTGGGACTTG	0.577																																						dbGAP											0													201.0	158.0	173.0					20																	23729700		2203	4297	6500	-	-	-	SO:0001583	missense	0			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.295C>T	20.37:g.23729700G>A	ENSP00000305731:p.Pro99Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LE6|Q9UCQ6	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.P99S	ENST00000304749.2	37	c.295	CCDS13160.1	20	.	.	.	.	.	.	.	.	.	.	G	2.117	-0.402328	0.04865	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.24908	1.83;1.83	1.82	-0.7	0.11273	Proteinase inhibitor I25, cystatin (2);	1.341770	0.04833	N	0.439148	T	0.17152	0.0412	L	0.41356	1.27	0.21984	N	0.999435	B	0.15930	0.015	B	0.12156	0.007	T	0.21759	-1.0236	10	0.09338	T	0.73	.	3.5465	0.07831	0.0:0.2654:0.4312:0.3034	.	99	P01037	CYTN_HUMAN	S	99	ENSP00000305731:P99S;ENSP00000381439:P99S	ENSP00000305731:P99S	P	-	1	0	CST1	23677700	0.002000	0.14202	0.576000	0.28549	0.148000	0.21650	-1.164000	0.03135	-0.136000	0.11475	0.194000	0.17425	CCC	CST1	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000170373		0.577	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	194	0.00	0	G	NM_001898		23729700	23729700	-1	no_errors	ENST00000304749	ensembl	human	known	69_37n	missense	94	40.13	63	SNP	0.649	A
CT45A6	541465	genome.wustl.edu	37	X	134967492	134967492	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:134967492G>C	ENST00000491002.2	-	2	94	c.5C>G	c.(4-6)aCc>aGc	p.T2S	CT45A6_ENST00000472834.1_Missense_Mutation_p.T2S|CT45A6_ENST00000448053.2_Missense_Mutation_p.T2S			Q8N7B7	CT454_HUMAN	cancer/testis antigen family 45, member A6	2																	TGTTTTATCGGTCATTGTTTC	0.393																																						dbGAP											0													1.0	1.0	1.0					X																	134967492		240	593	833	-	-	-	SO:0001583	missense	0			AY743714	CCDS35407.1	Xq26.3	2009-03-12							33271	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-6"""	300797				15905330	Standard	XM_006724762		Approved	CT45-6, CT45.6	uc004ezf.3	Q8N7B7		ENST00000491002.2:c.5C>G	X.37:g.134967492G>C	ENSP00000427362:p.Thr2Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_RmlC_Cupin	p.T2S	ENST00000491002.2	37	c.5	CCDS35407.1	X	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.378908	0.01204	.	.	ENSG00000226907	ENST00000448053;ENST00000472834	T;T	0.45668	0.89;0.89	1.52	-2.05	0.07321	.	0.053288	0.64402	U	0.000001	T	0.26882	0.0658	L	0.31664	0.95	0.09310	N	1	.	.	.	.	.	.	T	0.19811	-1.0294	8	0.72032	D	0.01	.	2.6739	0.05076	0.4141:0.2599:0.326:0.0	.	.	.	.	S	2	ENSP00000388119:T2S;ENSP00000422541:T2S	ENSP00000388119:T2S	T	-	2	0	CT45A6	134795158	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.328000	0.02680	-0.837000	0.04223	0.179000	0.17066	ACC	CT45A6	-	NULL	ENSG00000226907		0.393	CT45A6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CT45A6	HGNC	protein_coding	OTTHUMT00000472590.1	34	0.00	0	G	NM_001017438		134967492	134967492	-1	no_errors	ENST00000448053	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	0.000	C
CTC1	80169	genome.wustl.edu	37	17	8137916	8137918	+	In_Frame_Del	DEL	CTT	CTT	-	rs371121503		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:8137916_8137918delCTT	ENST00000315684.8	-	10	1680_1682	c.1673_1675delAAG	c.(1672-1677)gaagga>gga	p.E558del	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	558					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TTACGCTGTCCTTCTTCTTTCAG	0.626																																						dbGAP											0										0,3920		0,0,1960						-2.3	0.0			64	3,7993		1,1,3996	no	coding	CTC1	NM_025099.5		1,1,5956	A1A1,A1R,RR		0.0375,0.0,0.0252				3,11913				-	-	-	SO:0001651	inframe_deletion	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1673_1675delAAG	17.37:g.8137922_8137924delCTT	ENSP00000313759:p.Glu558del	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	In_Frame_Del	DEL	NULL	p.E558in_frame_del	ENST00000315684.8	37	c.1675_1673	CCDS42259.1	17																																																																																			CTC1	-	NULL	ENSG00000178971		0.626	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	36	0.00	0	CTT	NM_025099		8137916	8137918	-1	no_errors	ENST00000315684	ensembl	human	known	69_37n	in_frame_del	17	36.67	11	DEL	0.039:0.038:0.052	-
CTDP1	9150	genome.wustl.edu	37	18	77477567	77477567	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:77477567G>A	ENST00000299543.7	+	9	2248	c.2101G>A	c.(2101-2103)Gga>Aga	p.G701R	CTDP1_ENST00000075430.7_Missense_Mutation_p.G701R	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	701	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACAGGAGTGCGGACACCTGCA	0.657																																						dbGAP											0													79.0	79.0	79.0					18																	77477567		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2101G>A	18.37:g.77477567G>A	ENSP00000299543:p.Gly701Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.G701R	ENST00000299543.7	37	c.2101	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	G	5.272	0.235607	0.10023	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	D;D	0.84944	-1.92;-1.92	5.09	-4.41	0.03590	BRCT (3);	0.492323	0.22425	N	0.060232	T	0.73481	0.3592	L	0.52573	1.65	0.09310	N	1	B;B;B	0.18741	0.016;0.03;0.02	B;B;B	0.14578	0.006;0.009;0.011	T	0.58086	-0.7698	10	0.20519	T	0.43	-10.8485	7.2416	0.26100	0.5191:0.3767:0.1042:0.0	.	582;701;701	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	R	701	ENSP00000299543:G701R;ENSP00000075430:G701R	ENSP00000075430:G701R	G	+	1	0	CTDP1	75578555	1.000000	0.71417	0.000000	0.03702	0.356000	0.29392	4.236000	0.58675	-0.656000	0.05380	0.563000	0.77884	GGA	CTDP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000060069		0.657	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	18	0.00	0	G	NM_004715		77477567	77477567	+1	no_errors	ENST00000299543	ensembl	human	known	69_37n	missense	2	89.47	17	SNP	0.000	A
CTDSP2	10106	genome.wustl.edu	37	12	58217397	58217397	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:58217397C>T	ENST00000398073.2	-	8	1107	c.804G>A	c.(802-804)ctG>ctA	p.L268L	MIR26A2_ENST00000385054.1_RNA|CTDSP2_ENST00000548823.1_Silent_p.L95L|CTDSP2_ENST00000547701.1_Silent_p.L116L	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	268					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					AAGGGGCCCGCAGCTGCCCAA	0.577																																						dbGAP											0													29.0	35.0	33.0					12																	58217397		2110	4248	6358	-	-	-	SO:0001819	synonymous_variant	0			AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.804G>A	12.37:g.58217397C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.L268	ENST00000398073.2	37	c.804	CCDS41801.1	12																																																																																			CTDSP2	-	NULL	ENSG00000175215		0.577	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSP2	HGNC	protein_coding	OTTHUMT00000409353.1	25	0.00	0	C	NM_005730		58217397	58217397	-1	no_errors	ENST00000398073	ensembl	human	known	69_37n	silent	17	29.17	7	SNP	1.000	T
CTPS1	1503	genome.wustl.edu	37	1	41450497	41450497	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:41450497G>T	ENST00000372621.4	+	3	679	c.171G>T	c.(169-171)gaG>gaT	p.E57D	CTPS1_ENST00000372616.1_Missense_Mutation_p.E57D|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000543104.1_Missense_Mutation_p.E64D	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CTGCAGGTGAGGTTTTTGTGC	0.443																																						dbGAP											0													232.0	224.0	227.0					1																	41450497		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.171G>T	1.37:g.41450497G>T	ENSP00000361704:p.Glu57Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase	p.E57D	ENST00000372621.4	37	c.171	CCDS459.1	1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896480	0.52121	.	.	ENSG00000171793	ENST00000372621;ENST00000543104;ENST00000372616	T;T	0.60040	0.22;0.22	5.45	-5.79	0.02354	CTP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	H	0.99535	4.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87042	0.2141	10	0.87932	D	0	.	15.7133	0.77649	0.3208:0.0:0.6792:0.0	.	64;57	B7Z9C4;P17812	.;PYRG1_HUMAN	D	57;64;57	ENSP00000361704:E57D;ENSP00000361699:E57D	ENSP00000361699:E57D	E	+	3	2	CTPS	41223084	1.000000	0.71417	0.843000	0.33291	0.138000	0.21146	0.600000	0.24104	-1.118000	0.02961	-0.806000	0.03193	GAG	CTPS1	-	pfam_CTP_synthase_N,tigrfam_CTP_synthase	ENSG00000171793		0.443	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	HGNC	protein_coding	OTTHUMT00000015629.1	125	0.00	0	G	NM_001905		41450497	41450497	+1	no_errors	ENST00000372616	ensembl	human	known	69_37n	missense	51	45.74	43	SNP	0.952	T
CTPS1	1503	genome.wustl.edu	37	1	41463019	41463019	+	Intron	SNP	C	C	T	rs144876983		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:41463019C>T	ENST00000372621.4	+	9	1380				CTPS1_ENST00000372616.1_Intron|CTPS1_ENST00000541520.1_Intron	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CTCATGATAGCGTGTACCTTC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		20422	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													64.0	63.0	63.0					1																	41463019		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.873-47C>T	1.37:g.41463019C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000372621.4	37	NULL	CCDS459.1	1																																																																																			CTPS1	-	-	ENSG00000171793		0.433	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	HGNC	protein_coding	OTTHUMT00000015629.1	67	0.00	0	C	NM_001905		41463019	41463019	+1	no_errors	ENST00000486889	ensembl	human	known	69_37n	rna	60	33.33	30	SNP	0.000	T
CTSB	1508	genome.wustl.edu	37	8	11708390	11708390	+	Silent	SNP	G	G	T	rs372879779		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:11708390G>T	ENST00000353047.6	-	4	565	c.312C>A	c.(310-312)tcC>tcA	p.S104S	CTSB_ENST00000533455.1_Silent_p.S104S|CTSB_ENST00000530640.2_Silent_p.S104S|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000415599.2_Silent_p.S104S|CTSB_ENST00000434271.1_Silent_p.S104S|CTSB_ENST00000534510.1_Silent_p.S104S|CTSB_ENST00000345125.3_Silent_p.S104S|CTSB_ENST00000453527.2_Silent_p.S104S|CTSB_ENST00000531089.1_Silent_p.S104S	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	104					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		AGGAGCCACAGGAGCCCTGGT	0.592																																						dbGAP											0													64.0	59.0	61.0					8																	11708390		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.312C>A	8.37:g.11708390G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQR5|B3KRR5|Q503A6|Q96D87	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Propeptide_C1A,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.S104	ENST00000353047.6	37	c.312	CCDS5986.1	8																																																																																			CTSB	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	ENSG00000164733		0.592	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSB	HGNC	protein_coding	OTTHUMT00000207586.3	23	0.00	0	G	NM_147780		11708390	11708390	-1	no_errors	ENST00000353047	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	1.000	T
CTSL	1514	genome.wustl.edu	37	9	90344617	90344617	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:90344617G>A	ENST00000343150.5	+	6	1641	c.751G>A	c.(751-753)Gca>Aca	p.A251T	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.A251T			P07711	CATL1_HUMAN	cathepsin L	251					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										TGCTATTGATGCAGGTCATGA	0.428																																						dbGAP											0													153.0	145.0	148.0					9																	90344617		2203	4300	6503	-	-	-	SO:0001583	missense	0			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.751G>A	9.37:g.90344617G>A	ENSP00000345344:p.Ala251Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.A251T	ENST00000343150.5	37	c.751	CCDS6675.1	9	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879489	0.72294	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	T;T	0.26518	1.73;1.73	4.19	2.24	0.28232	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.44159	0.1280	M	0.91300	3.195	0.80722	D	1	P	0.44090	0.826	P	0.49047	0.599	T	0.46652	-0.9176	10	0.66056	D	0.02	.	8.7871	0.34827	0.0811:0.0:0.7697:0.1492	.	251	P07711	CATL1_HUMAN	T	251	ENSP00000345344:A251T;ENSP00000365061:A251T	ENSP00000365061:A251T	A	+	1	0	CTSL1	89534437	1.000000	0.71417	0.004000	0.12327	0.087000	0.18053	3.809000	0.55606	0.340000	0.23745	0.655000	0.94253	GCA	CTSL1	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000135047		0.428	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL1	HGNC	protein_coding	OTTHUMT00000052936.1	196	0.00	0	G	NM_001912		90344617	90344617	+1	no_errors	ENST00000340342	ensembl	human	known	69_37n	missense	122	38.07	75	SNP	1.000	A
CTTNBP2	83992	genome.wustl.edu	37	7	117417675	117417677	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:117417675_117417677delCTC	ENST00000160373.3	-	8	2757_2759	c.2666_2668delGAG	c.(2665-2670)ggagaa>gaa	p.G889del		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	889					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGACTCTCTTCTCCTCCATCCAA	0.488																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2666_2668delGAG	7.37:g.117417678_117417680delCTC	ENSP00000160373:p.Gly889del	Somatic		WXS	Illumina GAIIx	Phase_IV	O43389|Q7LG11|Q9C0A5	In_Frame_Del	DEL	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G889in_frame_del	ENST00000160373.3	37	c.2668_2666	CCDS5774.1	7																																																																																			CTTNBP2	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000077063		0.488	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	156	0.00	0	CTC	NM_033427		117417675	117417677	-1	no_errors	ENST00000160373	ensembl	human	known	69_37n	in_frame_del	84	34.88	45	DEL	0.019:0.000:0.000	-
CUBN	8029	genome.wustl.edu	37	10	16981122	16981122	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:16981122C>T	ENST00000377833.4	-	38	5638	c.5573G>A	c.(5572-5574)gGa>gAa	p.G1858E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1858	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCATGAGTTCCCACAATATT	0.393																																						dbGAP											0													119.0	109.0	113.0					10																	16981122		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5573G>A	10.37:g.16981122C>T	ENSP00000367064:p.Gly1858Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.G1858E	ENST00000377833.4	37	c.5573	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578752	0.86645	.	.	ENSG00000107611	ENST00000377833	T	0.36340	1.26	5.12	5.12	0.69794	CUB (5);	0.000000	0.43110	D	0.000610	T	0.59810	0.2221	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62006	-0.6945	10	0.66056	D	0.02	.	18.9012	0.92443	0.0:1.0:0.0:0.0	.	1858	O60494	CUBN_HUMAN	E	1858	ENSP00000367064:G1858E	ENSP00000367064:G1858E	G	-	2	0	CUBN	17021128	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.151000	0.77411	2.541000	0.85698	0.585000	0.79938	GGA	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	188	0.00	0	C	NM_001081		16981122	16981122	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	123	34.92	66	SNP	1.000	T
CUBN	8029	genome.wustl.edu	37	10	17142044	17142044	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:17142044A>G	ENST00000377833.4	-	14	1790	c.1725T>C	c.(1723-1725)aaT>aaC	p.N575N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	575	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCCTCTCCCATTTCTTAAAT	0.393																																						dbGAP											0													129.0	127.0	128.0					10																	17142044		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1725T>C	10.37:g.17142044A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.N575	ENST00000377833.4	37	c.1725	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	193	0.51	1	A	NM_001081		17142044	17142044	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	silent	93	38.56	59	SNP	0.000	G
CUL3	8452	genome.wustl.edu	37	2	225379404	225379404	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:225379404C>T	ENST00000264414.4	-	4	802	c.464G>A	c.(463-465)gGg>gAg	p.G155E	CUL3_ENST00000409096.1_Missense_Mutation_p.G131E|CUL3_ENST00000344951.4_Missense_Mutation_p.G89E|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.G131E	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	155					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCTAATACACCCATAACGTAC	0.373																																						dbGAP											0													161.0	142.0	148.0					2																	225379404		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.464G>A	2.37:g.225379404C>T	ENSP00000264414:p.Gly155Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	p.W175*	ENST00000264414.4	37	c.525	CCDS2462.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.64|18.64	3.667342|3.667342	0.67814|0.67814	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777|ENST00000436172	T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63|.	6.06|6.06	6.06|6.06	0.98353|0.98353	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.65801|.	0.2726|.	L|L	0.33339|0.33339	1.005|1.005	0.80722|0.80722	D|D	1|1	P;P;P|.	0.43826|.	0.818;0.759;0.759|.	B;B;B|.	0.43990|.	0.311;0.438;0.438|.	T|.	0.57940|.	-0.7724|.	10|.	0.15499|.	T|.	0.54|.	.|.	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	89;133;155|.	Q13618-3;Q53S54;Q13618|.	.;.;CUL3_HUMAN|.	E|X	155;89;131;131|175	ENSP00000264414:G155E;ENSP00000343601:G89E;ENSP00000387200:G131E;ENSP00000386525:G131E|.	ENSP00000264414:G155E|.	G|W	-|-	2|3	0|0	CUL3|CUL3	225087648|225087648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.079000|6.079000	0.71291|0.71291	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GGG|TGG	CUL3	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000036257		0.373	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	141	0.00	0	C			225379404	225379404	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000436172	ensembl	human	novel	69_37n	nonsense	82	40.15	55	SNP	1.000	T
CXCR3	2833	genome.wustl.edu	37	X	70836740	70836740	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:70836740G>A	ENST00000373693.3	-	2	649	c.582C>T	c.(580-582)caC>caT	p.H194H	CXCR3_ENST00000373691.4_Silent_p.H241H	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	194					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GGCGCTCGTCGTGGTGGGCCG	0.692																																						dbGAP											0													37.0	33.0	34.0					X																	70836740		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.582C>T	X.37:g.70836740G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR3,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.H241	ENST00000373693.3	37	c.723	CCDS14416.1	X																																																																																			CXCR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186810		0.692	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1	15	0.00	0	G			70836740	70836740	-1	no_errors	ENST00000373691	ensembl	human	known	69_37n	silent	7	42.86	6	SNP	0.000	A
CXCR4	7852	genome.wustl.edu	37	2	136873125	136873125	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:136873125G>A	ENST00000241393.3	-	2	477	c.373C>T	c.(373-375)Ctc>Ttc	p.L125F	CXCR4_ENST00000409817.1_Missense_Mutation_p.L129F|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	125					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GCCAGGATGAGGACACTGCTG	0.537																																						dbGAP											0													164.0	144.0	151.0					2																	136873125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.373C>T	2.37:g.136873125G>A	ENSP00000241393:p.Leu125Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR4,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.L129F	ENST00000241393.3	37	c.385	CCDS46420.1	2	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155994	0.57259	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.36699	1.24;1.24	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	N	0.26092	0.79	0.80722	D	1	P;D	0.89917	0.946;1.0	P;D	0.97110	0.877;1.0	T	0.14699	-1.0463	10	0.21540	T	0.41	.	13.6801	0.62479	0.0792:0.0:0.9208:0.0	.	125;129	P61073;P61073-2	CXCR4_HUMAN;.	F	129;125	ENSP00000386884:L129F;ENSP00000241393:L125F	ENSP00000241393:L125F	L	-	1	0	CXCR4	136589595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.800000	0.62524	2.734000	0.93682	0.655000	0.94253	CTC	CXCR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	ENSG00000121966		0.537	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	158	0.00	0	G			136873125	136873125	-1	no_errors	ENST00000409817	ensembl	human	known	69_37n	missense	70	42.62	52	SNP	1.000	A
CXXC4	80319	genome.wustl.edu	37	4	105393506	105393506	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:105393506G>A	ENST00000426831.1	-	2	584	c.570C>T	c.(568-570)agC>agT	p.S190S	CXXC4_ENST00000394767.2_Silent_p.S359S|CXXC4_ENST00000466963.1_5'UTR			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	190					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ATGCTTCAGCGCTGGGAACAG	0.338																																						dbGAP											0													100.0	105.0	104.0					4																	105393506		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.570C>T	4.37:g.105393506G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.S359	ENST00000426831.1	37	c.1077		4																																																																																			CXXC4	-	NULL	ENSG00000168772		0.338	CXXC4-201	KNOWN	basic	protein_coding	CXXC4	HGNC	protein_coding		411	0.00	0	G	NM_025212		105393506	105393506	-1	no_errors	ENST00000394767	ensembl	human	known	69_37n	silent	198	42.11	144	SNP	1.000	A
CYB5R4	51167	genome.wustl.edu	37	6	84634231	84634231	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:84634231delA	ENST00000369681.5	+	10	874	c.734delA	c.(733-735)caafs	p.Q245fs		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	245	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTGTTCTACAAAAAAAAGAG	0.338																																					Esophageal Squamous(86;1289 1332 25971 40349 52675)	dbGAP											0													109.0	112.0	111.0					6																	84634231		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.734delA	6.37:g.84634231delA	ENSP00000358695:p.Gln245fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Frame_Shift_Del	DEL	pfam_Cyt_B5,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_domain,superfamily_Cyt_B5,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Cyt_B5,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5	p.E248fs	ENST00000369681.5	37	c.734	CCDS5000.2	6																																																																																			CYB5R4	-	superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	ENSG00000065615		0.338	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R4	HGNC	protein_coding	OTTHUMT00000041362.4	192	0.00	0	A	NM_016230		84634231	84634231	+1	no_errors	ENST00000369681	ensembl	human	known	69_37n	frame_shift_del	34	74.70	124	DEL	0.868	-
CYFIP2	26999	genome.wustl.edu	37	5	156786030	156786030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:156786030C>T	ENST00000442283.2	+	25	2826	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	CYFIP2_ENST00000318218.6_Silent_p.Y922Y|CYFIP2_ENST00000522463.1_Silent_p.Y701Y|CYFIP2_ENST00000521420.1_Silent_p.Y871Y|CYFIP2_ENST00000435847.2_Silent_p.Y596Y|CYFIP2_ENST00000541131.1_Silent_p.Y822Y|CYFIP2_ENST00000377576.3_Silent_p.Y897Y|CYFIP2_ENST00000347377.6_Silent_p.Y897Y	NM_001037333.1	NP_001032410.1			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACATTGCCTACAGCCACATCT	0.512																																						dbGAP											0													206.0	209.0	208.0					5																	156786030		2013	4180	6193	-	-	-	SO:0001587	stop_gained	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000442283.2:c.544C>T	5.37:g.156786030C>T	ENSP00000390948:p.Gln182*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,superfamily_Chemokine_IL8-like_dom	p.Q182*	ENST00000442283.2	37	c.544		5	.	.	.	.	.	.	.	.	.	.	C	54	21.661180	0.99942	.	.	ENSG00000055163	ENST00000442283	.	.	.	5.28	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-13.8737	13.8534	0.63510	0.0:0.9268:0.0:0.0732	.	.	.	.	X	182	.	ENSP00000390948:Q182X	Q	+	1	0	CYFIP2	156718608	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.046000	0.57376	1.224000	0.43551	-0.136000	0.14681	CAG	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,superfamily_Chemokine_IL8-like_dom	ENSG00000055163		0.512	CYFIP2-205	KNOWN	basic	protein_coding	CYFIP2	HGNC	protein_coding		284	0.00	0	C	NM_001037332		156786030	156786030	+1	no_errors	ENST00000442283	ensembl	human	known	69_37n	nonsense	203	30.72	90	SNP	1.000	T
CYP27C1	339761	genome.wustl.edu	37	2	127950746	127950746	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:127950746A>G	ENST00000335247.7	-	7	1056	c.926T>C	c.(925-927)aTc>aCc	p.I309T	CYP27C1_ENST00000409327.1_Missense_Mutation_p.I309T	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	309						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ACCAAAGGGGATGGATCCAAA	0.552																																						dbGAP											0													111.0	106.0	108.0					2																	127950746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.926T>C	2.37:g.127950746A>G	ENSP00000334128:p.Ile309Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNI7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I309T	ENST00000335247.7	37	c.926	CCDS33285.1	2	.	.	.	.	.	.	.	.	.	.	A	11.71	1.721200	0.30503	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.70631	-0.5;-0.5	4.11	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	L	0.56396	1.775	0.38620	D	0.951112	D	0.71674	0.998	D	0.74348	0.983	T	0.74548	-0.3629	10	0.48119	T	0.1	-13.7767	8.0832	0.30756	0.8288:0.0:0.1712:0.0	.	309	Q4G0S4	C27C1_HUMAN	T	309	ENSP00000334128:I309T;ENSP00000387198:I309T	ENSP00000334128:I309T	I	-	2	0	CYP27C1	127667216	1.000000	0.71417	0.022000	0.16811	0.010000	0.07245	5.245000	0.65405	0.125000	0.18397	-0.425000	0.05940	ATC	CYP27C1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	ENSG00000186684		0.552	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27C1	HGNC	protein_coding	OTTHUMT00000331046.1	44	0.00	0	A	NM_001001665		127950746	127950746	-1	no_errors	ENST00000335247	ensembl	human	known	69_37n	missense	29	42.00	21	SNP	1.000	G
CYP2A6	1548	genome.wustl.edu	37	19	41354538	41354538	+	Silent	SNP	G	G	A	rs60605885		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:41354538G>A	ENST00000301141.5	-	3	494	c.474C>T	c.(472-474)gaC>gaT	p.D158D	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	158					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCCGGAGGGCGTCGATGAGGA	0.697																																						dbGAP											0													36.0	39.0	38.0					19																	41354538		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.474C>T	19.37:g.41354538G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.D158	ENST00000301141.5	37	c.474	CCDS12568.1	19																																																																																			CYP2A6	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000255974		0.697	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A6	HGNC	protein_coding	OTTHUMT00000463259.1	43	0.00	0	G	NM_000762		41354538	41354538	-1	no_errors	ENST00000301141	ensembl	human	known	69_37n	silent	41	37.50	27	SNP	0.004	A
CYP39A1	51302	genome.wustl.edu	37	6	46593217	46593217	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:46593217A>G	ENST00000275016.2	-	7	1072	c.869T>C	c.(868-870)cTt>cCt	p.L290P		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	290					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AGGATGAGAAAGGACGTATGC	0.343																																						dbGAP											0													139.0	132.0	134.0					6																	46593217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.869T>C	6.37:g.46593217A>G	ENSP00000275016:p.Leu290Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTT0|Q96FW5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.L290P	ENST00000275016.2	37	c.869	CCDS4916.1	6	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168683	0.38315	.	.	ENSG00000146233	ENST00000275016	T	0.70399	-0.48	5.2	5.2	0.72013	.	0.090419	0.43416	D	0.000575	T	0.79411	0.4441	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.72625	0.978;0.975	T	0.82610	-0.0372	10	0.62326	D	0.03	-13.0611	11.4577	0.50191	1.0:0.0:0.0:0.0	.	270;290	B7Z786;Q9NYL5	.;CP39A_HUMAN	P	290	ENSP00000275016:L290P	ENSP00000275016:L290P	L	-	2	0	CYP39A1	46701176	1.000000	0.71417	0.983000	0.44433	0.131000	0.20780	4.960000	0.63673	1.970000	0.57323	0.454000	0.30748	CTT	CYP39A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	ENSG00000146233		0.343	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	190	0.00	0	A			46593217	46593217	-1	no_errors	ENST00000275016	ensembl	human	known	69_37n	missense	103	36.42	59	SNP	0.888	G
CYP4A11	1579	genome.wustl.edu	37	1	47398493	47398493	+	Missense_Mutation	SNP	C	C	T	rs199678286	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:47398493C>T	ENST00000310638.4	-	11	1335	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	CYP4A11_ENST00000462347.1_Missense_Mutation_p.R337H|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R436H|CYP4A11_ENST00000371905.1_Missense_Mutation_p.R435H	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	435					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CGGTGCAAAACGGAAAGGGTC	0.547													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20594	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													289.0	307.0	301.0					1																	47398493		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1304G>A	1.37:g.47398493C>T	ENSP00000311095:p.Arg435His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.R436H	ENST00000310638.4	37	c.1307	CCDS543.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	15.75	2.924458	0.52653	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	D;D;D	0.90261	-2.64;-2.64;-2.64	5.11	2.23	0.28157	.	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	M	0.85462	2.755	0.39552	D	0.968986	D	0.64830	0.994	P	0.62089	0.898	D	0.93555	0.6890	10	0.87932	D	0	.	10.2794	0.43530	0.0:0.7806:0.0:0.2194	.	435	Q02928	CP4AB_HUMAN	H	435;436;435	ENSP00000311095:R435H;ENSP00000360971:R436H;ENSP00000360972:R435H	ENSP00000311095:R435H	R	-	2	0	CYP4A11	47171080	0.037000	0.19845	0.002000	0.10522	0.561000	0.35649	2.368000	0.44222	0.287000	0.22375	-0.142000	0.14014	CGT	CYP4A11	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000187048		0.547	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	507	0.00	0	C	NM_000778		47398493	47398493	-1	no_errors	ENST00000371904	ensembl	human	known	69_37n	missense	333	43.27	254	SNP	0.022	T
CYP7B1	9420	genome.wustl.edu	37	8	65537056	65537056	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:65537056A>G	ENST00000310193.3	-	2	336	c.163T>C	c.(163-165)Tat>Cat	p.Y55H		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	55					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ACTCCAAGATAAGGAAGCCAA	0.373																																						dbGAP											0													133.0	130.0	131.0					8																	65537056		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.163T>C	8.37:g.65537056A>G	ENSP00000310721:p.Tyr55His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN07|Q9UNF5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.Y55H	ENST00000310193.3	37	c.163	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	A	24.6	4.549307	0.86127	.	.	ENSG00000172817	ENST00000310193	T	0.68903	-0.36	5.63	5.63	0.86233	.	0.209202	0.47852	D	0.000216	T	0.81536	0.4843	M	0.75615	2.305	0.41774	D	0.989788	D	0.89917	1.0	D	0.76071	0.987	D	0.84245	0.0474	10	0.87932	D	0	-21.3183	15.8337	0.78782	1.0:0.0:0.0:0.0	.	55	O75881	CP7B1_HUMAN	H	55	ENSP00000310721:Y55H	ENSP00000310721:Y55H	Y	-	1	0	CYP7B1	65699610	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	7.150000	0.77403	2.143000	0.66587	0.482000	0.46254	TAT	CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV	ENSG00000172817		0.373	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	514	0.00	0	A			65537056	65537056	-1	no_errors	ENST00000310193	ensembl	human	known	69_37n	missense	305	33.98	157	SNP	1.000	G
DAAM2	23500	genome.wustl.edu	37	6	39855370	39855370	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:39855370T>C	ENST00000398904.2	+	16	2242		c.e16+2		RP11-61I13.3_ENST00000420293.1_RNA|DAAM2_ENST00000274867.4_Splice_Site|DAAM2_ENST00000538976.1_Splice_Site|RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2						actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCTTTCCAAGTATGTGCAAAA	0.572																																						dbGAP											0													49.0	53.0	52.0					6																	39855370		1955	4151	6106	-	-	-	SO:0001630	splice_region_variant	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2060+2T>C	6.37:g.39855370T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Splice_Site	SNP	-	e15+2	ENST00000398904.2	37	c.2060+2	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479712	0.84747	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0863	0.72155	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DAAM2	39963348	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.656000	0.83736	2.266000	0.75297	0.533000	0.62120	.	DAAM2	-	-	ENSG00000146122		0.572	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	18	0.00	0	T		Intron	39855370	39855370	+1	no_errors	ENST00000274867	ensembl	human	known	69_37n	splice_site	7	53.33	8	SNP	1.000	C
DAP3	7818	genome.wustl.edu	37	1	155701155	155701155	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:155701155C>T	ENST00000368336.5	+	10	976	c.852C>T	c.(850-852)ccC>ccT	p.P284P	MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Silent_p.P243P|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Silent_p.P250P|DAP3_ENST00000343043.3_Silent_p.P284P|DAP3_ENST00000471642.2_Silent_p.P243P	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	284					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGATTGCCCCCGAGGAATTAG	0.363																																						dbGAP											0													139.0	131.0	134.0					1																	155701155		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.852C>T	1.37:g.155701155C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit	p.P284	ENST00000368336.5	37	c.852	CCDS1120.1	1																																																																																			DAP3	-	pfam_Ribosomal_S23/S29_mit	ENSG00000132676		0.363	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	217	0.46	1	C	NM_004632		155701155	155701155	+1	no_errors	ENST00000343043	ensembl	human	known	69_37n	silent	230	22.82	68	SNP	0.573	T
DBN1	1627	genome.wustl.edu	37	5	176885085	176885085	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:176885085C>T	ENST00000309007.5	-	12	1969	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	DBN1_ENST00000393565.1_Missense_Mutation_p.E630K|DBN1_ENST00000512501.1_Missense_Mutation_p.E316K|DBN1_ENST00000393563.4_Missense_Mutation_p.E316K|DBN1_ENST00000292385.5_Missense_Mutation_p.E586K	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	584					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGTGGTCTCGCCATTGGTT	0.682																																						dbGAP											0													53.0	58.0	56.0					5																	176885085		2192	4271	6463	-	-	-	SO:0001583	missense	0				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1750G>A	5.37:g.176885085C>T	ENSP00000308532:p.Glu584Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.E586K	ENST00000309007.5	37	c.1756	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574461	0.86542	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	D;D;D;T;D	0.96365	-3.99;-3.99;-3.99;0.42;-3.99	4.71	4.71	0.59529	.	0.238443	0.41712	D	0.000823	D	0.96396	0.8824	L	0.27053	0.805	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.75484	0.986;0.944;0.969;0.986	D	0.97249	0.9896	10	0.87932	D	0	-22.357	16.9461	0.86230	0.0:1.0:0.0:0.0	.	534;630;584;586	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	K	584;586;630;316;316	ENSP00000308532:E584K;ENSP00000292385:E586K;ENSP00000377195:E630K;ENSP00000423208:E316K;ENSP00000377193:E316K	ENSP00000292385:E586K	E	-	1	0	DBN1	176817691	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.643000	0.54374	2.618000	0.88619	0.462000	0.41574	GAG	DBN1	-	NULL	ENSG00000113758		0.682	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	27	0.00	0	C	NM_080881		176885085	176885085	-1	no_errors	ENST00000292385	ensembl	human	known	69_37n	missense	12	53.85	14	SNP	1.000	T
DCAF6	55827	genome.wustl.edu	37	1	167973842	167973842	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:167973842A>G	ENST00000312263.6	+	10	1393	c.1189A>G	c.(1189-1191)Act>Gct	p.T397A	DCAF6_ENST00000367840.3_Missense_Mutation_p.T397A|DCAF6_ENST00000432587.2_Missense_Mutation_p.T366A|DCAF6_ENST00000367843.3_Missense_Mutation_p.T397A	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	397					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						agtgagtgaaactgcaatgga	0.418																																						dbGAP											0													65.0	58.0	60.0					1																	167973842		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1189A>G	1.37:g.167973842A>G	ENSP00000311949:p.Thr397Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.T397A	ENST00000312263.6	37	c.1189	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	A	9.182	1.023831	0.19433	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.80480	-1.37;0.36;-1.38;-1.38	5.17	1.63	0.23807	WD40 repeat-like-containing domain (1);	0.347798	0.28688	N	0.014462	T	0.36524	0.0970	N	0.12746	0.255	0.36921	D	0.891389	B;B;B;B	0.20368	0.0;0.0;0.044;0.0	B;B;B;B	0.13407	0.0;0.001;0.009;0.002	T	0.04268	-1.0964	9	0.10377	T	0.69	.	7.9438	0.29974	0.682:0.0:0.318:0.0	.	366;397;397;397	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	A	397;366;397;397	ENSP00000356817:T397A;ENSP00000396238:T366A;ENSP00000311949:T397A;ENSP00000356814:T397A	ENSP00000311949:T397A	T	+	1	0	DCAF6	166240466	0.953000	0.32496	0.069000	0.20011	0.975000	0.68041	1.960000	0.40422	0.081000	0.16988	0.454000	0.30748	ACT	DCAF6	-	superfamily_WD40_repeat_dom	ENSG00000143164		0.418	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	131	0.00	0	A	NM_018442		167973842	167973842	+1	no_errors	ENST00000367840	ensembl	human	known	69_37n	missense	117	34.27	61	SNP	0.130	G
DCBLD2	131566	genome.wustl.edu	37	3	98531251	98531251	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:98531251T>C	ENST00000326840.6	-	10	1650	c.1288A>G	c.(1288-1290)Aga>Gga	p.R430G	DCBLD2_ENST00000326857.9_Missense_Mutation_p.R430G	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	430	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGATTCACTCTAATAAAACGT	0.348																																						dbGAP											0													109.0	103.0	105.0					3																	98531251		1845	4105	5950	-	-	-	SO:0001583	missense	0				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1288A>G	3.37:g.98531251T>C	ENSP00000321573:p.Arg430Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.R430G	ENST00000326840.6	37	c.1288	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257174	0.80246	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	D;D	0.90261	-2.64;-2.64	5.88	4.7	0.59300	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.046500	0.85682	D	0.000000	D	0.96818	0.8961	H	0.98446	4.235	0.54753	D	0.999981	D;D	0.71674	0.998;0.978	D;P	0.66084	0.941;0.871	D	0.96795	0.9585	10	0.87932	D	0	-31.3176	11.3616	0.49646	0.0:0.0:0.152:0.848	.	430;430	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	G	430;379;430	ENSP00000321573:R430G;ENSP00000321646:R430G	ENSP00000321573:R430G	R	-	1	2	DCBLD2	100013941	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.590000	0.53979	1.001000	0.39076	0.533000	0.62120	AGA	DCBLD2	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000057019		0.348	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	273	0.00	0	T	NM_080927		98531251	98531251	-1	no_errors	ENST00000326857	ensembl	human	known	69_37n	missense	135	45.34	112	SNP	1.000	C
DCHS1	8642	genome.wustl.edu	37	11	6648883	6648883	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:6648883C>T	ENST00000299441.3	-	14	5798	c.5387G>A	c.(5386-5388)gGa>gAa	p.G1796E	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1796	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAAAGGCTCCTGATGGGTC	0.527																																						dbGAP											0													24.0	23.0	23.0					11																	6648883		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5387G>A	11.37:g.6648883C>T	ENSP00000299441:p.Gly1796Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G1796E	ENST00000299441.3	37	c.5387	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719891	0.68844	.	.	ENSG00000166341	ENST00000299441	T	0.61980	0.06	5.42	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000332	T	0.38295	0.1035	N	0.11341	0.13	0.48452	D	0.999659	B	0.16603	0.018	B	0.21917	0.037	T	0.18524	-1.0334	10	0.09338	T	0.73	.	9.8353	0.40966	0.0:0.8298:0.0:0.1702	.	1796	Q96JQ0	PCD16_HUMAN	E	1796	ENSP00000299441:G1796E	ENSP00000299441:G1796E	G	-	2	0	DCHS1	6605459	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.373000	0.44266	1.532000	0.49169	0.563000	0.77884	GGA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.527	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	49	0.00	0	C	NM_003737		6648883	6648883	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	20	38.24	13	SNP	1.000	T
DCHS1	8642	genome.wustl.edu	37	11	6652635	6652635	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:6652635G>A	ENST00000299441.3	-	8	4090	c.3679C>T	c.(3679-3681)Cca>Tca	p.P1227S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1227	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCGGTCTGGTACCTGTGGG	0.542																																						dbGAP											0													125.0	108.0	114.0					11																	6652635		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3679C>T	11.37:g.6652635G>A	ENSP00000299441:p.Pro1227Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P1227S	ENST00000299441.3	37	c.3679	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352352	0.41700	.	.	ENSG00000166341	ENST00000299441	T	0.52983	0.64	5.33	4.35	0.52113	Cadherin (3);Cadherin-like (1);	0.198918	0.25645	N	0.029259	T	0.37732	0.1014	L	0.55213	1.73	0.28008	N	0.935005	B	0.30146	0.27	B	0.31812	0.136	T	0.34775	-0.9815	10	0.02654	T	1	.	11.3593	0.49633	0.0939:0.0:0.9061:0.0	.	1227	Q96JQ0	PCD16_HUMAN	S	1227	ENSP00000299441:P1227S	ENSP00000299441:P1227S	P	-	1	0	DCHS1	6609211	0.992000	0.36948	1.000000	0.80357	0.975000	0.68041	3.556000	0.53734	2.778000	0.95560	0.655000	0.94253	CCA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166341		0.542	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	174	0.00	0	G	NM_003737		6652635	6652635	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	85	38.85	54	SNP	0.985	A
DCK	1633	genome.wustl.edu	37	4	71859603	71859603	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:71859603G>T	ENST00000286648.5	+	1	448	c.51G>T	c.(49-51)gaG>gaT	p.E17D	DCK_ENST00000504730.1_Missense_Mutation_p.E17D|MOB1B_ENST00000511449.1_Intron|DCK_ENST00000504952.1_Missense_Mutation_p.E17D	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	17					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CCAGCTCTGAGGGGACCCGCA	0.612																																						dbGAP											0													48.0	43.0	45.0					4																	71859603		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.51G>T	4.37:g.71859603G>T	ENSP00000286648:p.Glu17Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase	p.E17D	ENST00000286648.5	37	c.51	CCDS3548.1	4	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253707	0.22965	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.98926	-5.24;-4.74;-5.22	4.98	3.12	0.35913	.	0.654969	0.15511	N	0.258521	D	0.94052	0.8094	N	0.14661	0.345	0.30763	N	0.743879	B	0.21905	0.062	B	0.18263	0.021	D	0.90545	0.4505	10	0.14252	T	0.57	.	7.9634	0.30085	0.09:0.1605:0.7495:0.0	.	17	P27707	DCK_HUMAN	D	17	ENSP00000286648:E17D;ENSP00000425578:E17D;ENSP00000421508:E17D	ENSP00000286648:E17D	E	+	3	2	DCK	72078467	0.390000	0.25213	0.034000	0.17996	0.472000	0.32918	0.547000	0.23299	1.227000	0.43598	0.491000	0.48974	GAG	DCK	-	NULL	ENSG00000156136		0.612	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCK	HGNC	protein_coding	OTTHUMT00000252159.2	20	0.00	0	G			71859603	71859603	+1	no_errors	ENST00000286648	ensembl	human	known	69_37n	missense	16	46.67	14	SNP	0.497	T
DCHS2	54798	genome.wustl.edu	37	4	155254014	155254014	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:155254014C>T	ENST00000357232.4	-	9	1848	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1116T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	617	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCGAGGCTGCACGCTGGGGG	0.532																																						dbGAP											0													55.0	56.0	56.0					4																	155254014		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1849G>A	4.37:g.155254014C>T	ENSP00000349768:p.Ala617Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A617T	ENST00000357232.4	37	c.1849	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	10.49	1.364945	0.24684	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.60920	0.15;0.15	5.06	-9.74	0.00509	Cadherin (3);Cadherin-like (1);	0.731043	0.11978	N	0.511103	T	0.26011	0.0634	N	0.10945	0.07	0.09310	N	1	B;B	0.15719	0.002;0.014	B;B	0.12156	0.005;0.007	T	0.23904	-1.0175	10	0.12766	T	0.61	.	9.2521	0.37562	0.0:0.3081:0.1889:0.503	.	1116;617	E9PC11;Q6V1P9	.;PCD23_HUMAN	T	617;1116;1116	ENSP00000349768:A617T;ENSP00000345062:A1116T	ENSP00000345062:A1116T	A	-	1	0	DCHS2	155473464	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.627000	0.00874	-2.000000	0.00965	0.655000	0.94253	GCA	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.532	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	58	0.00	0	C	NM_001142552		155254014	155254014	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	38	36.67	22	SNP	0.000	T
DCLRE1B	64858	genome.wustl.edu	37	1	114453818	114453818	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:114453818G>A	ENST00000369563.3	+	4	1050	c.604G>A	c.(604-606)Gta>Ata	p.V202I	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	202					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCTGGGTGGTATTGAGTCC	0.527								Other identified genes with known or suspected DNA repair function																														dbGAP											0													80.0	81.0	81.0					1																	114453818		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.604G>A	1.37:g.114453818G>A	ENSP00000358576:p.Val202Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9E5	Missense_Mutation	SNP	pfam_DRMBL	p.V202I	ENST00000369563.3	37	c.604	CCDS866.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823305	0.90873	.	.	ENSG00000118655	ENST00000369563	T	0.74947	-0.89	5.47	5.47	0.80525	.	0.055886	0.64402	D	0.000001	T	0.71609	0.3360	L	0.50333	1.59	0.50039	D	0.999843	D	0.60575	0.988	P	0.52957	0.714	T	0.67245	-0.5719	10	0.22706	T	0.39	-5.15	19.3136	0.94202	0.0:0.0:1.0:0.0	.	202	Q9H816	DCR1B_HUMAN	I	202	ENSP00000358576:V202I	ENSP00000358576:V202I	V	+	1	0	DCLRE1B	114255341	1.000000	0.71417	0.945000	0.38365	0.991000	0.79684	7.950000	0.87804	2.574000	0.86865	0.561000	0.74099	GTA	DCLRE1B	-	NULL	ENSG00000118655		0.527	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1B	HGNC	protein_coding	OTTHUMT00000033020.2	64	0.00	0	G	NM_022836		114453818	114453818	+1	no_errors	ENST00000369563	ensembl	human	known	69_37n	missense	77	39.84	51	SNP	0.995	A
DCPS	28960	genome.wustl.edu	37	11	126201342	126201342	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:126201342T>C	ENST00000263579.4	+	3	748	c.419T>C	c.(418-420)cTg>cCg	p.L140P	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	140					cellular response to menadione (GO:0036245)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA metabolic process (GO:0016071)|negative regulation of programmed cell death (GO:0043069)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	m7G(5')pppN diphosphatase activity (GO:0050072)|RNA 7-methylguanosine cap binding (GO:0000340)			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GAGAAACACCTGCAGAAGTAC	0.547																																						dbGAP											0													135.0	129.0	131.0					11																	126201342		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF077201	CCDS8473.1	11q24	2008-02-05			ENSG00000110063	ENSG00000110063			29812	protein-coding gene	gene with protein product		610534				12198172, 14523240	Standard	NM_014026		Approved	HSPC015, HINT-5, HSL1	uc001qdp.3	Q96C86	OTTHUMG00000165829	ENST00000263579.4:c.419T>C	11.37:g.126201342T>C	ENSP00000263579:p.Leu140Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHL8|Q9Y2S5	Missense_Mutation	SNP	pfam_Scavenger_mRNA_decap_enz,superfamily_HIT-like,superfamily_Scavenger_mRNA_decap_enz_N,pirsf_Scavenger_mRNA_decap_enz	p.L140P	ENST00000263579.4	37	c.419	CCDS8473.1	11	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575089	0.86542	.	.	ENSG00000110063	ENST00000263579	T	0.50548	0.74	5.84	5.84	0.93424	Scavenger mRNA decapping enzyme, N-terminal (1);	0.282980	0.34245	N	0.004124	T	0.65523	0.2699	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.68179	-0.5477	10	0.87932	D	0	-20.1478	15.2061	0.73180	0.0:0.0:0.0:1.0	.	140	Q96C86	DCPS_HUMAN	P	140	ENSP00000263579:L140P	ENSP00000263579:L140P	L	+	2	0	DCPS	125706552	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.124000	0.77185	2.241000	0.73720	0.533000	0.62120	CTG	DCPS	-	pfam_Scavenger_mRNA_decap_enz,superfamily_Scavenger_mRNA_decap_enz_N,pirsf_Scavenger_mRNA_decap_enz	ENSG00000110063		0.547	DCPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCPS	HGNC	protein_coding	OTTHUMT00000386455.1	167	0.00	0	T	NM_014026		126201342	126201342	+1	no_errors	ENST00000263579	ensembl	human	known	69_37n	missense	79	43.57	61	SNP	1.000	C
DCUN1D3	123879	genome.wustl.edu	37	16	20871508	20871508	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:20871508G>T	ENST00000324344.4	-	3	900	c.615C>A	c.(613-615)gcC>gcA	p.A205A	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.A205A	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	205	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		ACAGGGCAATGGCTATTTCCC	0.483																																						dbGAP											0													172.0	174.0	173.0					16																	20871508		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.615C>A	16.37:g.20871508G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVY4	Silent	SNP	pfam_PONY_dom	p.A205	ENST00000324344.4	37	c.615	CCDS10592.1	16																																																																																			DCUN1D3	-	pfam_PONY_dom	ENSG00000188215		0.483	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D3	HGNC	protein_coding	OTTHUMT00000254415.2	396	0.00	0	G	NM_173475		20871508	20871508	-1	no_errors	ENST00000324344	ensembl	human	known	69_37n	silent	222	39.67	146	SNP	1.000	T
DDX42	11325	genome.wustl.edu	37	17	61894415	61894415	+	Intron	SNP	C	C	T	rs530795179		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:61894415C>T	ENST00000578681.1	+	18	2713				DDX42_ENST00000359353.5_Intron|DDX42_ENST00000583590.1_Intron|DDX42_ENST00000582985.1_3'UTR|DDX42_ENST00000457800.2_Intron|DDX42_ENST00000389924.2_Intron	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TGTAGCTGGGCGCCTAGGCTT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		20358	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2112+89C>T	17.37:g.61894415C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	RNA	SNP	-	NULL	ENST00000578681.1	37	NULL	CCDS32704.1	17																																																																																			DDX42	-	-	ENSG00000198231		0.438	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	63	0.00	0	C	NM_007372		61894415	61894415	+1	no_errors	ENST00000582985	ensembl	human	putative	69_37n	rna	34	40.35	23	SNP	0.000	T
DEFB123	245936	genome.wustl.edu	37	20	30037881	30037881	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:30037881C>T	ENST00000376309.3	+	2	288	c.108C>T	c.(106-108)tgC>tgT	p.C36C		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	36					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTTACAGATGCTCCAAGAAGG	0.438																																						dbGAP											0													143.0	142.0	142.0					20																	30037881		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AA933749	CCDS13180.1	20q11.1	2008-07-17			ENSG00000180424	ENSG00000180424		"""Defensins, beta"""	18103	protein-coding gene	gene with protein product	"""beta defensin 23"""					11854508	Standard	NM_153324		Approved	DEFB-23	uc002wvy.3	Q8N688	OTTHUMG00000032170	ENST00000376309.3:c.108C>T	20.37:g.30037881C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.C36	ENST00000376309.3	37	c.108	CCDS13180.1	20																																																																																			DEFB123	-	NULL	ENSG00000180424		0.438	DEFB123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB123	HGNC	protein_coding	OTTHUMT00000078510.2	158	0.00	0	C	NM_153324		30037881	30037881	+1	no_errors	ENST00000376309	ensembl	human	known	69_37n	silent	150	30.88	67	SNP	0.007	T
DENND3	22898	genome.wustl.edu	37	8	142195348	142195348	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:142195348C>T	ENST00000262585.2	+	18	3093	c.2815C>T	c.(2815-2817)Cac>Tac	p.H939Y	DENND3_ENST00000519811.1_Missense_Mutation_p.H1019Y|DENND3_ENST00000424248.1_Missense_Mutation_p.H887Y	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	939					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CATCCACCAGCACTCCTTTAA	0.493																																						dbGAP											0													169.0	134.0	146.0					8																	142195348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2815C>T	8.37:g.142195348C>T	ENSP00000262585:p.His939Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.H939Y	ENST00000262585.2	37	c.2815	CCDS34947.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.27|11.27	1.588273|1.588273	0.28357|0.28357	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811;ENST00000517985	.|T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18	4.89|4.89	4.89|4.89	0.63831|0.63831	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.405345	.|0.31188	.|N	.|0.008088	T|T	0.58750|0.58750	0.2144|0.2144	L|L	0.57536|0.57536	1.79|1.79	0.22185|0.22185	N|N	0.999301|0.999301	.|P;P	.|0.50369	.|0.934;0.885	.|B;B	.|0.37387	.|0.232;0.248	T|T	0.62973|0.62973	-0.6740|-0.6740	5|10	.|0.72032	.|D	.|0.01	-23.5515|-23.5515	18.4349|18.4349	0.90642|0.90642	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1019;939	.|E9PF32;A2RUS2	.|.;DEND3_HUMAN	V|Y	943|939;887;1019;99	.|ENSP00000262585:H939Y;ENSP00000410594:H887Y;ENSP00000428714:H1019Y;ENSP00000429533:H99Y	.|ENSP00000262585:H939Y	A|H	+|+	2|1	0|0	DENND3|DENND3	142264530|142264530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.099000|0.099000	0.18886|0.18886	3.523000|3.523000	0.53488|0.53488	2.412000|2.412000	0.81896|0.81896	0.555000|0.555000	0.69702|0.69702	GCA|CAC	DENND3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000105339		0.493	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		161	0.00	0	C	NM_014957		142195348	142195348	+1	no_errors	ENST00000262585	ensembl	human	known	69_37n	missense	72	33.33	36	SNP	1.000	T
DEPDC1	55635	genome.wustl.edu	37	1	68947143	68947143	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:68947143C>T	ENST00000456315.2	-	9	2029	c.1915G>A	c.(1915-1917)Gca>Aca	p.A639T	DEPDC1_ENST00000370966.5_Missense_Mutation_p.A355T|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	639	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GTACCCATTGCATCATGAAGT	0.353																																						dbGAP											0													82.0	76.0	78.0					1																	68947143		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1915G>A	1.37:g.68947143C>T	ENSP00000412292:p.Ala639Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.A639T	ENST00000456315.2	37	c.1915	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438142	0.43326	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.42131	0.98;0.98	5.72	2.84	0.33178	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.250811	0.46442	N	0.000296	T	0.12518	0.0304	L	0.41079	1.255	0.25517	N	0.9874	B;B	0.28820	0.224;0.001	B;B	0.28709	0.093;0.004	T	0.28427	-1.0044	10	0.15952	T	0.53	-0.0047	9.4687	0.38829	0.0:0.7513:0.1185:0.1302	.	639;355	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	T	639;355	ENSP00000412292:A639T;ENSP00000360005:A355T	ENSP00000360005:A355T	A	-	1	0	DEPDC1	68719731	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	1.878000	0.39608	0.337000	0.23665	-0.140000	0.14226	GCA	DEPDC1	-	superfamily_Rho_GTPase_activation_prot	ENSG00000024526		0.353	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2	83	0.00	0	C	NM_017779		68947143	68947143	-1	no_errors	ENST00000456315	ensembl	human	known	69_37n	missense	47	43.37	36	SNP	1.000	T
DENND4B	9909	genome.wustl.edu	37	1	153910272	153910272	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:153910272T>C	ENST00000361217.4	-	14	2451	c.2033A>G	c.(2032-2034)gAg>gGg	p.E678G		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	678					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GACAGTGAGCTCACTTCCTGA	0.537																																						dbGAP											0													134.0	135.0	135.0					1																	153910272		2002	4189	6191	-	-	-	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2033A>G	1.37:g.153910272T>C	ENSP00000354597:p.Glu678Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E678G	ENST00000361217.4	37	c.2033	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.877009	0.91664	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.10005	2.92;2.92	5.18	5.18	0.71444	.	0.110120	0.64402	D	0.000016	T	0.26122	0.0637	M	0.80332	2.49	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.03463	-1.1034	10	0.87932	D	0	-23.2442	14.1442	0.65339	0.0:0.0:0.0:1.0	.	678	O75064	DEN4B_HUMAN	G	678;689	ENSP00000354597:E678G;ENSP00000357635:E689G	ENSP00000354597:E678G	E	-	2	0	DENND4B	152176896	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.657000	0.83745	2.164000	0.68074	0.533000	0.62120	GAG	DENND4B	-	NULL	ENSG00000198837		0.537	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	123	0.81	1	T	XM_375806		153910272	153910272	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	missense	125	28.16	49	SNP	1.000	C
DEXI	28955	genome.wustl.edu	37	16	11035629	11035629	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:11035629C>T	ENST00000331808.4	-	1	688	c.234G>A	c.(232-234)tcG>tcA	p.S78S	RP11-876N24.5_ENST00000570440.1_RNA|DEXI_ENST00000469379.1_5'UTR|RP11-876N24.4_ENST00000573379.1_RNA|CLEC16A_ENST00000409790.1_5'Flank|CLEC16A_ENST00000409552.3_5'Flank	NM_014015.3	NP_054734.2	O95424	DEXI_HUMAN	Dexi homolog (mouse)	78										endometrium(2)|lung(1)	3						CGTAAAGGCCCGAGCCGGGGT	0.612																																						dbGAP											0													44.0	47.0	46.0					16																	11035629		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF108145	CCDS10545.1	16p13.13	2010-02-17			ENSG00000182108	ENSG00000182108			13267	protein-coding gene	gene with protein product	"""dexamethasone-induced transcript"""					11306815, 11472984	Standard	NM_014015		Approved	MYLE	uc002dal.3	O95424	OTTHUMG00000129785	ENST00000331808.4:c.234G>A	16.37:g.11035629C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAA7	Silent	SNP	prints_Dexamethasone-induced	p.S78	ENST00000331808.4	37	c.234	CCDS10545.1	16																																																																																			DEXI	-	prints_Dexamethasone-induced	ENSG00000182108		0.612	DEXI-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	DEXI	HGNC	protein_coding	OTTHUMT00000252009.1	12	0.00	0	C	NM_014015		11035629	11035629	-1	no_errors	ENST00000331808	ensembl	human	known	69_37n	silent	12	42.86	9	SNP	0.747	T
DFNA5	1687	genome.wustl.edu	37	7	24784233	24784233	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:24784233G>T	ENST00000342947.3	-	3	777	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	DFNA5_ENST00000409775.3_Missense_Mutation_p.L118M|DFNA5_ENST00000419307.1_De_novo_Start_InFrame|DFNA5_ENST00000545231.1_De_novo_Start_InFrame|DFNA5_ENST00000409970.1_De_novo_Start_InFrame	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	118					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGCTTCCTCAGGGTTCCAAAT	0.527																																					GBM(78;184 1250 20134 20900 23600)	dbGAP											0													113.0	106.0	109.0					7																	24784233		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.352C>A	7.37:g.24784233G>T	ENSP00000339587:p.Leu118Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	pfam_Gasdermin	p.L118M	ENST00000342947.3	37	c.352	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958330	0.73902	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.33216	1.42;1.42	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.61158	-0.7119	10	0.59425	D	0.04	-15.2567	19.8481	0.96728	0.0:0.0:1.0:0.0	.	118;118	A4FTY0;O60443	.;DFNA5_HUMAN	M	118	ENSP00000339587:L118M;ENSP00000386670:L118M	ENSP00000339587:L118M	L	-	1	2	DFNA5	24750758	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.639000	0.46570	2.705000	0.92388	0.650000	0.86243	CTG	DFNA5	-	pfam_Gasdermin	ENSG00000105928		0.527	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	HGNC	protein_coding	OTTHUMT00000214060.2	230	0.00	0	G	NM_004403		24784233	24784233	-1	no_errors	ENST00000342947	ensembl	human	known	69_37n	missense	136	44.35	110	SNP	0.993	T
DHX58	79132	genome.wustl.edu	37	17	40257762	40257762	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:40257762T>C	ENST00000251642.3	-	9	1465	c.1243A>G	c.(1243-1245)Atg>Gtg	p.M415V		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	415	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACCTGGGTCATGTGGGTGCTC	0.637																																						dbGAP											0													48.0	51.0	50.0					17																	40257762		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1243A>G	17.37:g.40257762T>C	ENSP00000251642:p.Met415Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAM6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M415V	ENST00000251642.3	37	c.1243	CCDS11416.1	17	.	.	.	.	.	.	.	.	.	.	T	21.0	4.080467	0.76528	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.76709	-1.04	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.051876	0.85682	D	0.000000	T	0.81559	0.4848	M	0.73598	2.24	0.46981	D	0.999277	P;P	0.49185	0.92;0.866	P;P	0.48454	0.578;0.478	D	0.83788	0.0229	10	0.56958	D	0.05	-8.7017	13.8279	0.63361	0.0:0.0:0.0:1.0	.	408;415	B7Z455;Q96C10	.;DHX58_HUMAN	V	415;378	ENSP00000251642:M415V	ENSP00000251642:M415V	M	-	1	0	DHX58	37511288	1.000000	0.71417	0.980000	0.43619	0.955000	0.61496	7.099000	0.76981	1.962000	0.57031	0.374000	0.22700	ATG	DHX58	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000108771		0.637	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	HGNC	protein_coding	OTTHUMT00000257396.1	72	0.00	0	T	NM_024119		40257762	40257762	-1	no_errors	ENST00000251642	ensembl	human	known	69_37n	missense	36	33.33	18	SNP	1.000	C
DHX9	1660	genome.wustl.edu	37	1	182846013	182846013	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:182846013G>T	ENST00000367549.3	+	19	2283	c.2173G>T	c.(2173-2175)Gtt>Ttt	p.V725F		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	725	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CATAAACGATGTTGTTTATGT	0.328																																					Colon(69;210 1162 3697 13559 39565)	dbGAP											0													72.0	65.0	67.0					1																	182846013		1841	4096	5937	-	-	-	SO:0001583	missense	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2173G>T	1.37:g.182846013G>T	ENSP00000356520:p.Val725Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.V725F	ENST00000367549.3	37	c.2173	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.257323	0.95368	.	.	ENSG00000135829	ENST00000367549	T	0.03330	3.97	5.91	5.91	0.95273	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57207	-0.7851	10	0.87932	D	0	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	725	Q08211	DHX9_HUMAN	F	725	ENSP00000356520:V725F	ENSP00000356520:V725F	V	+	1	0	DHX9	181112636	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.140000	0.94607	2.804000	0.96469	0.650000	0.86243	GTT	DHX9	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000135829		0.328	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	107	0.00	0	G	NM_030588		182846013	182846013	+1	no_errors	ENST00000367549	ensembl	human	known	69_37n	missense	79	33.61	40	SNP	1.000	T
DKK3	27122	genome.wustl.edu	37	11	11988608	11988608	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:11988608A>T	ENST00000396505.2	-	6	804	c.566T>A	c.(565-567)cTg>cAg	p.L189Q	DKK3_ENST00000525493.1_Missense_Mutation_p.L189Q|DKK3_ENST00000326932.4_Missense_Mutation_p.L189Q|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.L161Q	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	189	DKK-type Cys-1.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CCAGACACACAGCTGGTCTCC	0.632											OREG0020766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													79.0	74.0	76.0					11																	11988608		2201	4294	6495	-	-	-	SO:0001583	missense	0			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.566T>A	11.37:g.11988608A>T	ENSP00000379762:p.Leu189Gln	Somatic	676	WXS	Illumina GAIIx	Phase_IV	A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	pfam_Dickkopf_N	p.L189Q	ENST00000396505.2	37	c.566	CCDS7808.1	11	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225066	0.79576	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914;ENST00000533813;ENST00000534511	T;T;T;T;T;T	0.57907	1.96;1.96;1.97;1.27;1.7;0.37	5.43	4.29	0.51040	Dickkopf, N-terminal cysteine-rich (1);	0.181277	0.48767	D	0.000163	T	0.70649	0.3248	M	0.73962	2.25	0.51012	D	0.999902	D;D;D	0.89917	1.0;0.978;1.0	D;P;D	0.97110	0.999;0.767;1.0	T	0.73026	-0.4112	10	0.72032	D	0.01	-14.6887	12.3426	0.55103	0.8587:0.1413:0.0:0.0	.	189;161;189	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	Q	189;189;132;189;161;33;189;161	ENSP00000379762:L189Q;ENSP00000314910:L189Q;ENSP00000433112:L189Q;ENSP00000398365:L161Q;ENSP00000435269:L189Q;ENSP00000436645:L161Q	ENSP00000314730:L33Q	L	-	2	0	DKK3	11945184	1.000000	0.71417	0.995000	0.50966	0.926000	0.56050	8.913000	0.92730	0.883000	0.36040	-0.313000	0.08912	CTG	DKK3	-	pfam_Dickkopf_N	ENSG00000050165		0.632	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DKK3	HGNC	protein_coding	OTTHUMT00000385863.1	83	0.00	0	A	NM_013253		11988608	11988608	-1	no_errors	ENST00000326932	ensembl	human	known	69_37n	missense	53	37.65	32	SNP	1.000	T
DLGAP1	9229	genome.wustl.edu	37	18	3879149	3879149	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:3879149T>C	ENST00000315677.3	-	4	1515	c.920A>G	c.(919-921)gAg>gGg	p.E307G	DLGAP1_ENST00000515196.2_Missense_Mutation_p.E307G|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.E307G|DLGAP1_ENST00000584874.1_Missense_Mutation_p.E307G	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	307					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)				CTGACACGACTCGGACTTCAC	0.572																																						dbGAP											0													69.0	65.0	67.0					18																	3879149		2203	4300	6503	-	-	-	SO:0001583	missense	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.920A>G	18.37:g.3879149T>C	ENSP00000316377:p.Glu307Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.E307G	ENST00000315677.3	37	c.920	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	T	16.13	3.037000	0.54896	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	D;D	0.89746	-2.56;-2.56	5.51	5.51	0.81932	.	0.048914	0.85682	D	0.000000	D	0.88024	0.6326	L	0.60455	1.87	0.80722	D	1	B;P;B	0.51933	0.247;0.949;0.227	B;B;B	0.43301	0.123;0.415;0.179	D	0.89417	0.3707	10	0.66056	D	0.02	-26.3391	15.6239	0.76833	0.0:0.0:0.0:1.0	.	307;307;307	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	G	307	ENSP00000316377:E307G;ENSP00000445973:E307G	ENSP00000316377:E307G	E	-	2	0	DLGAP1	3869149	1.000000	0.71417	0.498000	0.27564	0.886000	0.51366	7.668000	0.83897	2.105000	0.64084	0.533000	0.62120	GAG	DLGAP1	-	NULL	ENSG00000170579		0.572	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	58	0.00	0	T			3879149	3879149	-1	no_errors	ENST00000315677	ensembl	human	known	69_37n	missense	10	79.17	38	SNP	0.999	C
DLGAP2	9228	genome.wustl.edu	37	8	1581210	1581210	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:1581210C>T	ENST00000421627.2	+	5	1702	c.1568C>T	c.(1567-1569)gCa>gTa	p.A523V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	602					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGGTCAACAGCAGGTAAGGGG	0.532																																						dbGAP											0													85.0	86.0	85.0					8																	1581210		2147	4249	6396	-	-	-	SO:0001583	missense	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1568C>T	8.37:g.1581210C>T	ENSP00000400258:p.Ala523Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Nonsense_Mutation	SNP	pfam_GKAP	p.Q540*	ENST00000421627.2	37	c.1618	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.353|8.353	0.831369|0.831369	0.16820|0.16820	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.23147|.	1.92|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.250989|.	0.45361|.	D|.	0.000368|.	T|.	0.34164|.	0.0888|.	N|N	0.02247|0.02247	-0.625|-0.625	0.43118|0.43118	D|D	0.994837|0.994837	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.10450|.	0.005;0.004|.	T|.	0.32719|.	-0.9896|.	10|.	0.20046|.	T|.	0.44|.	-3.7339|-3.7339	18.5482|18.5482	0.91054|0.91054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	602;602|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|X	568;523|540	ENSP00000400258:A523V|.	ENSP00000348366:A568V|.	A|Q	+|+	2|1	0|0	DLGAP2|DLGAP2	1568617|1568617	1.000000|1.000000	0.71417|0.71417	0.929000|0.929000	0.37066|0.37066	0.098000|0.098000	0.18820|0.18820	7.354000|7.354000	0.79424|0.79424	2.417000|2.417000	0.82017|0.82017	0.555000|0.555000	0.69702|0.69702	GCA|CAG	DLGAP2	-	NULL	ENSG00000198010		0.532	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	120	0.00	0	C	NM_004745		1581210	1581210	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520901	ensembl	human	known	69_37n	nonsense	52	32.91	26	SNP	1.000	T
DLX2	1746	genome.wustl.edu	37	2	172966131	172966131	+	Intron	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:172966131C>A	ENST00000234198.4	-	2	947				AC104801.1_ENST00000448117.1_lincRNA|DLX2_ENST00000466293.2_Missense_Mutation_p.R215M	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2						brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTAAACCCGCCTGCTTCCCAG	0.597																																					GBM(188;775 2993 11256 23072)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.585+58G>T	2.37:g.172966131C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMK4|B7ZA14	Missense_Mutation	SNP	pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R215M	ENST00000234198.4	37	c.644	CCDS2248.1	2	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348747	0.41599	.	.	ENSG00000115844	ENST00000466293	D	0.93659	-3.26	3.95	1.01	0.19927	.	.	.	.	.	D	0.95030	0.8391	.	.	.	0.09310	N	1	D	0.67145	0.996	D	0.74023	0.982	D	0.86580	0.1853	8	0.87932	D	0	.	4.6312	0.12502	0.0:0.6035:0.1813:0.2152	.	215	B7ZA14	.	M	215	ENSP00000446904:R215M	ENSP00000446904:R215M	R	-	2	0	DLX2	172674377	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.097000	0.15168	0.061000	0.16311	-0.234000	0.12200	AGG	DLX2	-	NULL	ENSG00000115844		0.597	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX2	HGNC	protein_coding	OTTHUMT00000255368.3	41	0.00	0	C			172966131	172966131	-1	no_errors	ENST00000466293	ensembl	human	putative	69_37n	missense	9	55.00	11	SNP	0.000	A
DMXL1	1657	genome.wustl.edu	37	5	118502316	118502316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:118502316delA	ENST00000311085.8	+	22	5056	c.4976delA	c.(4975-4977)gaafs	p.E1659fs	DMXL1_ENST00000539542.1_Frame_Shift_Del_p.E1659fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATAGAGCTGAAAAAAACACC	0.318																																						dbGAP											0													71.0	73.0	72.0					5																	118502316		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4976delA	5.37:g.118502316delA	ENSP00000309690:p.Glu1659fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1661fs	ENST00000311085.8	37	c.4976	CCDS4125.1	5																																																																																			DMXL1	-	pfam_Rav1p_C	ENSG00000172869		0.318	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	182	0.00	0	A	NM_005509		118502316	118502316	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	frame_shift_del	141	29.35	59	DEL	1.000	-
DNAH11	8701	genome.wustl.edu	37	7	21640533	21640533	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:21640533G>A	ENST00000409508.3	+	16	3271	c.3240G>A	c.(3238-3240)gaG>gaA	p.E1080E	DNAH11_ENST00000328843.6_Silent_p.E1080E	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1080	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAACTCTTGAGCAATTCAAAG	0.378									Kartagener syndrome																													dbGAP											0													102.0	95.0	97.0					7																	21640533		1860	4108	5968	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3240G>A	7.37:g.21640533G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1080	ENST00000409508.3	37	c.3240		7																																																																																			DNAH11	-	NULL	ENSG00000105877		0.378	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	501	0.20	1	G	NM_003777		21640533	21640533	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	silent	306	40.04	205	SNP	0.000	A
CDCA7L	55536	genome.wustl.edu	37	7	21939612	21939612	+	IGR	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:21939612A>G	ENST00000406877.3	-	0	3066				DNAH11_ENST00000328843.6_Missense_Mutation_p.M4400V|DNAH11_ENST00000409508.3_Missense_Mutation_p.M4393V	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CATGCAGACGATGGCTCGAAA	0.428																																						dbGAP											0													56.0	57.0	56.0					7																	21939612		1870	4096	5966	-	-	-	SO:0001628	intergenic_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21939612A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	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.M4400V	ENST00000406877.3	37	c.13198	CCDS5374.1	7	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094782	0.36952	.	.	ENSG00000105877	ENST00000328843	T	0.06687	3.27	5.63	4.47	0.54385	Dynein heavy chain (1);	0.551776	0.21547	N	0.072788	T	0.04861	0.0131	.	.	.	0.29518	N	0.853705	B	0.21381	0.055	B	0.15052	0.012	T	0.26258	-1.0108	9	0.12103	T	0.63	.	11.4833	0.50339	0.9283:0.0:0.0717:0.0	.	4400	Q96DT5	DYH11_HUMAN	V	4400	ENSP00000330671:M4400V	ENSP00000330671:M4400V	M	+	1	0	DNAH11	21906137	0.944000	0.32072	0.994000	0.49952	0.991000	0.79684	3.422000	0.52749	2.145000	0.66743	0.533000	0.62120	ATG	DNAH11	-	pfam_Dynein_heavy	ENSG00000105877		0.428	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000250218.4	91	0.00	0	A	NM_018719		21939612	21939612	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	52	35.80	29	SNP	0.975	G
DNAH17	8632	genome.wustl.edu	37	17	76497919	76497919	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:76497919C>A	ENST00000585328.1	-	34	5342	c.5218G>T	c.(5218-5220)Ggg>Tgg	p.G1740W	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.G1732W|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1732	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGAGGTTCCCCATGAGCAGC	0.587																																						dbGAP											0													145.0	151.0	149.0					17																	76497919		2188	4286	6474	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5218G>T	17.37:g.76497919C>A	ENSP00000465516:p.Gly1740Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.G1732W	ENST00000585328.1	37	c.5194		17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950406	0.73787	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.28069	1.63	4.65	4.65	0.58169	.	.	.	.	.	T	0.75428	0.3848	H	0.99642	4.675	0.53688	D	0.999978	.	.	.	.	.	.	D	0.88223	0.2898	7	0.87932	D	0	.	17.5337	0.87822	0.0:1.0:0.0:0.0	.	.	.	.	W	1740;1732	ENSP00000374490:G1732W	ENSP00000300671:G1740W	G	-	1	0	DNAH17	74009514	1.000000	0.71417	0.951000	0.38953	0.525000	0.34531	5.777000	0.68931	2.122000	0.65172	0.442000	0.29010	GGG	DNAH17	-	NULL	ENSG00000187775		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	63	0.00	0	C	NM_173628		76497919	76497919	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	29	36.96	17	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196866535	196866535	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:196866535delT	ENST00000312428.6	-	11	1137	c.1037delA	c.(1036-1038)aagfs	p.K346fs	DNAH7_ENST00000410072.1_Frame_Shift_Del_p.K346fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	346	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGCAATTGCTTTTTTTTATT	0.383																																						dbGAP											0													82.0	81.0	81.0					2																	196866535		1830	4079	5909	-	-	-	SO:0001589	frameshift_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1037delA	2.37:g.196866535delT	ENSP00000311273:p.Lys346fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.K346fs	ENST00000312428.6	37	c.1037	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	170	0.00	0	T	NM_018897		196866535	196866535	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	frame_shift_del	90	38.51	57	DEL	1.000	-
DNAH9	1770	genome.wustl.edu	37	17	11597257	11597257	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:11597257G>A	ENST00000262442.4	+	21	4755	c.4687G>A	c.(4687-4689)Gta>Ata	p.V1563I	DNAH9_ENST00000454412.2_Missense_Mutation_p.V1563I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1563	Stem. {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)		AATTCCAAATGTAGTGCAAAC	0.428																																						dbGAP											0													108.0	105.0	106.0					17																	11597257		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.4687G>A	17.37:g.11597257G>A	ENSP00000262442:p.Val1563Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	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.V1563I	ENST00000262442.4	37	c.4687	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003198	0.54254	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.66099	-0.19;-0.19	4.72	4.72	0.59763	Dynein heavy chain, domain-2 (1);	0.161433	0.41823	D	0.000811	T	0.65344	0.2682	L	0.53780	1.695	0.80722	D	1	B	0.33413	0.411	B	0.41646	0.362	T	0.65348	-0.6190	10	0.41790	T	0.15	.	17.8424	0.88719	0.0:0.0:1.0:0.0	.	1563	Q9NYC9	DYH9_HUMAN	I	1563;1563;145	ENSP00000262442:V1563I;ENSP00000414874:V1563I	ENSP00000262442:V1563I	V	+	1	0	DNAH9	11537982	1.000000	0.71417	0.984000	0.44739	0.017000	0.09413	9.028000	0.93712	2.627000	0.88993	0.655000	0.94253	GTA	DNAH9	-	pfam_Dynein_heavy_dom-2	ENSG00000007174		0.428	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	284	0.00	0	G	NM_001372		11597257	11597257	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	188	38.36	117	SNP	1.000	A
DNAH9	1770	genome.wustl.edu	37	17	11738005	11738006	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:11738005_11738006insA	ENST00000262442.4	+	49	9365_9366	c.9297_9298insA	c.(9298-9300)aaafs	p.K3100fs	DNAH9_ENST00000454412.2_Frame_Shift_Ins_p.K3100fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3100	Stalk. {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)		AGCTGAAGCAGAAAAATGAAGA	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.9302dupA	17.37:g.11738010_11738010dupA	ENSP00000262442:p.Lys3100fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Ins	INS	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N3100fs	ENST00000262442.4	37	c.9297_9298	CCDS11160.1	17																																																																																			DNAH9	-	NULL	ENSG00000007174		0.510	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	94	0.00	0	-	NM_001372		11738005	11738006	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	frame_shift_ins	66	35.92	37	INS	0.996:1.000	A
DNAI1	27019	genome.wustl.edu	37	9	34497159	34497159	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:34497159G>A	ENST00000242317.4	+	10	1034	c.863G>A	c.(862-864)cGg>cAg	p.R288Q		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	288					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ATCATGGAGCGGATGGTCAAC	0.403									Kartagener syndrome																													dbGAP											0													182.0	158.0	166.0					9																	34497159		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.863G>A	9.37:g.34497159G>A	ENSP00000242317:p.Arg288Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R288Q	ENST00000242317.4	37	c.863	CCDS6557.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.679891	0.96774	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	D;D	0.84589	-1.87;-1.87	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95033	0.8171	10	0.72032	D	0.01	.	16.0569	0.80812	0.0:0.0:1.0:0.0	.	288	Q9UI46	DNAI1_HUMAN	Q	277;288;277	ENSP00000242317:R288Q;ENSP00000395396:R277Q	ENSP00000242317:R288Q	R	+	2	0	DNAI1	34487159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.139000	0.89615	2.861000	0.98227	0.655000	0.94253	CGG	DNAI1	-	NULL	ENSG00000122735		0.403	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	HGNC	protein_coding	OTTHUMT00000052192.1	154	0.00	0	G			34497159	34497159	+1	no_errors	ENST00000242317	ensembl	human	known	69_37n	missense	64	43.86	50	SNP	1.000	A
DNAJC13	23317	genome.wustl.edu	37	3	132207178	132207178	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:132207178G>T	ENST00000260818.6	+	30	3552	c.3304G>T	c.(3304-3306)Gtt>Ttt	p.V1102F		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1102					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						TGTTGAGAAGGTTGCTATTTT	0.353																																						dbGAP											0													110.0	100.0	103.0					3																	132207178		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.3304G>T	3.37:g.132207178G>T	ENSP00000260818:p.Val1102Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	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.V1102F	ENST00000260818.6	37	c.3304	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.115005	0.94339	.	.	ENSG00000138246	ENST00000260818	T	0.52526	0.66	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.72011	0.3408	M	0.86178	2.8	0.80722	D	1	D	0.71674	0.998	P	0.62014	0.897	T	0.76035	-0.3106	10	0.87932	D	0	.	19.9542	0.97213	0.0:0.0:1.0:0.0	.	1102	O75165	DJC13_HUMAN	F	1102	ENSP00000260818:V1102F	ENSP00000260818:V1102F	V	+	1	0	DNAJC13	133689868	1.000000	0.71417	0.986000	0.45419	0.896000	0.52359	9.374000	0.97172	2.728000	0.93425	0.650000	0.86243	GTT	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.353	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	90	0.00	0	G	NM_015268		132207178	132207178	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	missense	41	43.06	31	SNP	1.000	T
DNAJC16	23341	genome.wustl.edu	37	1	15871000	15871002	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:15871000_15871002delCTT	ENST00000375847.3	+	5	845_847	c.681_683delCTT	c.(679-684)tccttc>tcc	p.F229del	DNAJC16_ENST00000375838.1_In_Frame_Del_p.F229del|SCARNA21_ENST00000516057.1_RNA|DNAJC16_ENST00000375849.1_In_Frame_Del_p.F229del	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	229	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGAAAATCTCCTTCTTCCACAAT	0.478																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.681_683delCTT	1.37:g.15871003_15871005delCTT	ENSP00000365007:p.Phe229del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D57|Q86X32|Q8N5P4	In_Frame_Del	DEL	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.F229in_frame_del	ENST00000375847.3	37	c.681_683	CCDS30606.1	1																																																																																			DNAJC16	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000116138		0.478	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	90	0.00	0	CTT	NM_015291		15871000	15871002	+1	no_errors	ENST00000375847	ensembl	human	known	69_37n	in_frame_del	68	38.74	43	DEL	0.992:1.000:1.000	-
DNER	92737	genome.wustl.edu	37	2	230272000	230272000	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:230272000G>T	ENST00000341772.4	-	10	1805	c.1671C>A	c.(1669-1671)acC>acA	p.T557T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	557	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CGCTGTCACAGGTGGCTCCGT	0.517																																						dbGAP											0													140.0	124.0	130.0					2																	230272000		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1671C>A	2.37:g.230272000G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.T557	ENST00000341772.4	37	c.1671	CCDS33390.1	2																																																																																			DNER	-	pfam_EGF_extracell,smart_EGF-like,pfscan_EG-like_dom	ENSG00000187957		0.517	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1	391	0.00	0	G	NM_139072		230272000	230272000	-1	no_errors	ENST00000341772	ensembl	human	known	69_37n	silent	209	44.85	170	SNP	0.956	T
DNM2	1785	genome.wustl.edu	37	19	10906076	10906076	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:10906076G>A	ENST00000355667.6	+	9	1237	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	DNM2_ENST00000389253.4_Missense_Mutation_p.R386Q|DNM2_ENST00000585892.1_Missense_Mutation_p.R386Q|DNM2_ENST00000314646.5_Missense_Mutation_p.R386Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R386Q|DNM2_ENST00000359692.6_Missense_Mutation_p.R386Q	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	386					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GACTTACGACGGGAGATCAGC	0.577			"""F, N, Splice, Mis, O"""		ETP ALL																																	dbGAP		Rec	yes		19	19p13.2	1785	dynamin 2		L	0													182.0	136.0	152.0					19																	10906076		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1157G>A	19.37:g.10906076G>A	ENSP00000347890:p.Arg386Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.R386Q	ENST00000355667.6	37	c.1157	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304996	0.60305	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69	5.29	5.29	0.74685	Dynamin central domain (1);	0.122741	0.53938	D	0.000052	T	0.67040	0.2851	L	0.34521	1.04	0.48830	D	0.999711	P;B;B;B;D	0.54601	0.88;0.329;0.043;0.209;0.967	B;B;B;B;P	0.46975	0.393;0.147;0.039;0.072;0.533	T	0.68066	-0.5507	10	0.40728	T	0.16	0.2302	17.7396	0.88404	0.0:0.0:1.0:0.0	.	119;386;386;386;386	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	Q	375;386;386;386;386;386	ENSP00000386192:R386Q;ENSP00000347890:R386Q;ENSP00000352721:R386Q;ENSP00000373905:R386Q;ENSP00000313164:R386Q	ENSP00000313164:R386Q	R	+	2	0	DNM2	10767076	1.000000	0.71417	0.126000	0.21872	0.781000	0.44180	4.494000	0.60347	2.489000	0.83994	0.655000	0.94253	CGG	DNM2	-	pfam_Dynamin_central	ENSG00000079805		0.577	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	HGNC	protein_coding	OTTHUMT00000452592.1	132	0.00	0	G	NM_004945		10906076	10906076	+1	no_errors	ENST00000314646	ensembl	human	known	69_37n	missense	78	43.17	60	SNP	0.994	A
DNM3	26052	genome.wustl.edu	37	1	171956821	171956821	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:171956821A>C	ENST00000355305.5	+	3	418	c.261A>C	c.(259-261)aaA>aaC	p.K87N	DNM3_ENST00000367731.1_Missense_Mutation_p.K87N|DNM3_ENST00000367733.2_Missense_Mutation_p.K87N|DNM3_ENST00000520906.1_Missense_Mutation_p.K87N|DNM3_ENST00000358155.4_Missense_Mutation_p.K87N			Q9UQ16	DYN3_HUMAN	dynamin 3	87	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TACATTGCAAAGGAAAGAAAT	0.318																																						dbGAP											0													122.0	139.0	134.0					1																	171956821		1821	4084	5905	-	-	-	SO:0001583	missense	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.261A>C	1.37:g.171956821A>C	ENSP00000347457:p.Lys87Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.K87N	ENST00000355305.5	37	c.261		1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.853076	0.71719	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.95166	0.8433	M	0.67700	2.07	0.54753	D	0.999989	P;P;P;P	0.52061	0.921;0.95;0.943;0.881	P;P;P;P	0.58210	0.743;0.771;0.835;0.677	D	0.95535	0.8607	10	0.72032	D	0.01	.	8.5389	0.33379	0.9128:0.0:0.0872:0.0	.	87;87;87;87	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	N	87	ENSP00000350876:K87N;ENSP00000356707:K87N;ENSP00000347457:K87N;ENSP00000356705:K87N;ENSP00000429701:K87N	ENSP00000347457:K87N	K	+	3	2	DNM3	170223444	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.237000	0.43061	1.942000	0.56320	0.533000	0.62120	AAA	DNM3	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase	ENSG00000197959		0.318	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	342	0.00	0	A	NM_015569		171956821	171956821	+1	no_errors	ENST00000358155	ensembl	human	known	69_37n	missense	287	26.21	103	SNP	1.000	C
DNMBP	23268	genome.wustl.edu	37	10	101643927	101643927	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:101643927G>T	ENST00000324109.4	-	15	3929	c.3838C>A	c.(3838-3840)Ctc>Atc	p.L1280I	DNMBP_ENST00000543621.1_Missense_Mutation_p.L526I|DNMBP_ENST00000342239.3_Missense_Mutation_p.L1304I|DNMBP_ENST00000472036.1_5'Flank|DNMBP_ENST00000540316.1_Missense_Mutation_p.L216I	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1280					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGGCCAGGAGGGAGGCCCGG	0.502																																						dbGAP											0													76.0	83.0	80.0					10																	101643927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3838C>A	10.37:g.101643927G>T	ENSP00000315659:p.Leu1280Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.L1304I	ENST00000324109.4	37	c.3910	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561810	0.86335	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.95	5.02	0.67125	Src homology-3 domain (1);	0.000000	0.42548	D	0.000695	T	0.73528	0.3598	M	0.83953	2.67	0.50313	D	0.999865	D;D;D	0.64830	0.986;0.982;0.994	P;P;P	0.58970	0.799;0.662;0.849	T	0.75099	-0.3437	10	0.34782	T	0.22	-10.2416	14.8824	0.70542	0.0:0.2725:0.7275:0.0	.	1280;526;1304	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	I	1304;1280;526;526;216	ENSP00000344914:L1304I;ENSP00000315659:L1280I;ENSP00000443657:L526I;ENSP00000443573:L216I	ENSP00000315659:L1280I	L	-	1	0	DNMBP	101633917	1.000000	0.71417	0.960000	0.40013	0.926000	0.56050	5.491000	0.66887	1.458000	0.47871	0.655000	0.94253	CTC	DNMBP	-	superfamily_SH3_domain	ENSG00000107554		0.502	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	172	0.00	0	G	NM_015221		101643927	101643927	-1	no_errors	ENST00000342239	ensembl	human	known	69_37n	missense	90	42.31	66	SNP	1.000	T
DOCK1	1793	genome.wustl.edu	37	10	128824619	128824619	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:128824619G>A	ENST00000280333.6	+	16	1601	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000608350.1_RNA|RP11-223P11.3_ENST00000432554.2_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	498	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTTGAAGGTGGCCATTCCCAT	0.443																																						dbGAP											0													83.0	81.0	81.0					10																	128824619		1945	4143	6088	-	-	-	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1492G>A	10.37:g.128824619G>A	ENSP00000280333:p.Ala498Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.A498T	ENST00000280333.6	37	c.1492		10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214068	0.79352	.	.	ENSG00000150760	ENST00000280333	T	0.14022	2.54	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	L	0.45352	1.415	0.80722	D	1	P;P	0.44195	0.828;0.814	P;P	0.52159	0.691;0.578	T	0.01869	-1.1257	10	0.18710	T	0.47	.	17.7837	0.88531	0.0:0.0:1.0:0.0	.	498;498	B2RUU3;Q14185	.;DOCK1_HUMAN	T	498	ENSP00000280333:A498T	ENSP00000280333:A498T	A	+	1	0	DOCK1	128714609	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	9.563000	0.98148	2.419000	0.82065	0.563000	0.77884	GCC	DOCK1	-	NULL	ENSG00000150760		0.443	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	16	0.00	0	G	NM_001380		128824619	128824619	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	missense	5	64.29	9	SNP	1.000	A
DOCK10	55619	genome.wustl.edu	37	2	225738847	225738848	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:225738847_225738848insT	ENST00000258390.7	-	11	1189_1190	c.1122_1123insA	c.(1120-1125)aaagatfs	p.D375fs	DOCK10_ENST00000409592.3_Frame_Shift_Ins_p.D369fs	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	375					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCAAGAGATCTTTTTTTTGAA	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1123dupA	2.37:g.225738855_225738855dupT	ENSP00000258390:p.Asp375fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3FL70|O75178|Q9NW06|Q9NXI8	Frame_Shift_Ins	INS	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D374fs	ENST00000258390.7	37	c.1123_1122	CCDS46528.1	2																																																																																			DOCK10	-	NULL	ENSG00000135905		0.347	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	38	0.00	0	-			225738847	225738848	-1	no_errors	ENST00000258390	ensembl	human	known	69_37n	frame_shift_ins	36	30.77	16	INS	1.000:1.000	T
DOCK7	85440	genome.wustl.edu	37	1	62941104	62941104	+	Intron	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:62941104delA	ENST00000340370.5	-	46	5886				DOCK7_ENST00000489185.1_Intron|DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGAAATTAGAAAAAAAAAAG	0.259																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5869-82T>-	1.37:g.62941104delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	RNA	DEL	-	NULL	ENST00000340370.5	37	NULL	CCDS30734.1	1																																																																																			DOCK7	-	-	ENSG00000116641		0.259	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	78	0.00	0	A	NM_033407		62941104	62941104	-1	no_errors	ENST00000467758	ensembl	human	known	69_37n	rna	17	72.06	49	DEL	0.057	-
DPP10	57628	genome.wustl.edu	37	2	116101463	116101463	+	Silent	SNP	C	C	T	rs143448690	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:116101463C>T	ENST00000410059.1	+	3	726	c.246C>T	c.(244-246)caC>caT	p.H82H	DPP10_ENST00000310323.8_Silent_p.H75H|DPP10_ENST00000393147.2_Silent_p.H86H|DPP10_ENST00000409163.1_Silent_p.H32H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	82						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTGCTTCACGATCCAGAGG	0.333													C|||	3	0.000599042	0.0	0.0	5008	,	,		14959	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													86.0	88.0	87.0					2																	116101463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.246C>T	2.37:g.116101463C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	NULL	p.T37M	ENST00000410059.1	37	c.110	CCDS46400.1	2																																																																																			DPP10	-	NULL	ENSG00000175497		0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	122	0.00	0	C	NM_020868		116101463	116101463	+1	no_errors	ENST00000429914	ensembl	human	known	69_37n	missense	83	36.15	47	SNP	0.999	T
DPP10	57628	genome.wustl.edu	37	2	116599870	116599870	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:116599870T>A	ENST00000410059.1	+	26	2820	c.2340T>A	c.(2338-2340)tgT>tgA	p.C780*	DPP10_ENST00000310323.8_Nonsense_Mutation_p.C773*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.C784*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.C730*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	780						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCAGTGATTGTTTGAAGGAAG	0.383																																						dbGAP											0													99.0	95.0	97.0					2																	116599870		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2340T>A	2.37:g.116599870T>A	ENSP00000386565:p.Cys780*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.C784*	ENST00000410059.1	37	c.2352	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	37	6.133959	0.97315	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	.	.	.	6.03	-3.43	0.04810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0506	14.7181	0.69286	0.0:0.4906:0.0:0.5094	.	.	.	.	X	780;730;784;773	.	ENSP00000309066:C773X	C	+	3	2	DPP10	116316340	0.998000	0.40836	0.913000	0.36048	0.972000	0.66771	0.365000	0.20348	-0.984000	0.03507	-1.139000	0.01908	TGT	DPP10	-	pfam_Peptidase_S9	ENSG00000175497		0.383	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	127	0.00	0	T	NM_020868		116599870	116599870	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	nonsense	58	45.79	49	SNP	0.883	A
DPP3	10072	genome.wustl.edu	37	11	66260079	66260079	+	Intron	SNP	G	G	T	rs575294123		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:66260079G>T	ENST00000360510.2	+	10	1053				DPP3_ENST00000530165.1_Intron|DPP3_ENST00000532677.1_Intron|DPP3_ENST00000541961.1_Intron|DPP3_ENST00000453114.1_Intron|DPP3_ENST00000533799.1_Intron|DPP3_ENST00000531863.1_Intron			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						tccagcccagggtgactgcat	0.602																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.989-108G>T	11.37:g.66260079G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	RNA	SNP	-	NULL	ENST00000360510.2	37	NULL	CCDS8141.1	11																																																																																			DPP3	-	-	ENSG00000254986		0.602	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	HGNC	protein_coding	OTTHUMT00000393424.2	30	0.00	0	G			66260079	66260079	+1	no_errors	ENST00000525738	ensembl	human	putative	69_37n	rna	21	34.38	11	SNP	0.418	T
DRD5	1816	genome.wustl.edu	37	4	9784953	9784953	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:9784953T>A	ENST00000304374.2	+	1	1696	c.1300T>A	c.(1300-1302)Ttc>Atc	p.F434I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	434					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGAGGGTCCTTTCGATCGCAT	0.567																																						dbGAP											0													79.0	71.0	74.0					4																	9784953		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1300T>A	4.37:g.9784953T>A	ENSP00000306129:p.Phe434Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt	p.F434I	ENST00000304374.2	37	c.1300	CCDS3405.1	4	.	.	.	.	.	.	.	.	.	.	t	8.206	0.799144	0.16397	.	.	ENSG00000169676	ENST00000304374	T	0.64803	-0.12	4.53	4.53	0.55603	.	0.063428	0.64402	D	0.000006	T	0.63200	0.2491	M	0.66297	2.02	0.51012	D	0.999907	P	0.52577	0.954	P	0.47206	0.541	T	0.61831	-0.6982	10	0.19147	T	0.46	.	13.2266	0.59919	0.0:0.0:0.0:1.0	.	434	P21918	DRD5_HUMAN	I	434	ENSP00000306129:F434I	ENSP00000306129:F434I	F	+	1	0	DRD5	9394051	1.000000	0.71417	0.063000	0.19743	0.029000	0.11900	5.796000	0.69080	1.911000	0.55334	0.377000	0.23210	TTC	DRD5	-	NULL	ENSG00000169676		0.567	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	56	0.00	0	T			9784953	9784953	+1	no_errors	ENST00000304374	ensembl	human	known	69_37n	missense	44	39.73	29	SNP	0.957	A
DST	667	genome.wustl.edu	37	6	56417125	56417125	+	Missense_Mutation	SNP	C	C	A	rs374322914		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:56417125C>A	ENST00000361203.3	-	57	15839	c.15832G>T	c.(15832-15834)Ggg>Tgg	p.G5278W	DST_ENST00000446842.2_Missense_Mutation_p.G4954W|DST_ENST00000244364.6_Missense_Mutation_p.G2866W|DST_ENST00000421834.2_Missense_Mutation_p.G3192W|DST_ENST00000370788.2_Missense_Mutation_p.G3192W|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.G5280W|DST_ENST00000370754.5_Missense_Mutation_p.G5458W			Q03001	DYST_HUMAN	dystonin	5278					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAATTGTCCCTTCAACCTGC	0.448																																						dbGAP											0													82.0	79.0	80.0					6																	56417125		1863	4101	5964	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15832G>T	6.37:g.56417125C>A	ENSP00000354508:p.Gly5278Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.G5458W	ENST00000361203.3	37	c.16372		6	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822310	0.32237	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.63744	1.15;-0.02;-0.03;0.1;0.93;0.06;-0.06	6.17	4.4	0.53042	.	0.000000	0.56097	D	0.000033	T	0.65238	0.2672	L	0.60455	1.87	0.31045	N	0.715904	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.975;0.998	D;D;D;P;D	0.75484	0.944;0.986;0.986;0.594;0.965	T	0.71464	-0.4585	9	0.72032	D	0.01	.	9.6062	0.39634	0.0:0.7936:0.0:0.2064	.	3192;5280;5458;5278;2866	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	W	2866;5458;5280;3192;4954;3192;5278	ENSP00000244364:G2866W;ENSP00000359790:G5458W;ENSP00000359805:G5280W;ENSP00000400883:G3192W;ENSP00000393645:G4954W;ENSP00000359824:G3192W;ENSP00000354508:G5278W	ENSP00000244364:G2866W	G	-	1	0	DST	56525084	0.111000	0.22076	0.045000	0.18777	0.992000	0.81027	0.947000	0.29082	1.631000	0.50456	0.655000	0.94253	GGG	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	145	0.00	0	C	NM_001723		56417125	56417125	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	71	42.28	52	SNP	0.955	A
DTYMK	1841	genome.wustl.edu	37	2	242625211	242625211	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:242625211A>G	ENST00000305784.2	-	2	419	c.212T>C	c.(211-213)cTt>cCt	p.L71P	DTYMK_ENST00000493095.1_Intron	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	71					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGCAGAAAAAAGCAGGTGCAC	0.453																																						dbGAP											0													192.0	177.0	182.0					2																	242625211		2203	4296	6499	-	-	-	SO:0001583	missense	0			X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.212T>C	2.37:g.242625211A>G	ENSP00000304802:p.Leu71Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	tigrfam_Thymidylate_kinase	p.L71P	ENST00000305784.2	37	c.212	CCDS2552.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.018281|4.018281	0.75275|0.75275	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000420144|ENST00000305784	.|T	.|0.61859	.|0.07	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83912|0.83912	0.5357|0.5357	H|H	0.96833|0.96833	3.89|3.89	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.89573|0.89573	0.3815|0.3815	5|10	.|0.87932	.|D	.|0	-16.2186|-16.2186	15.315|15.315	0.74069|0.74069	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|71;71	.|B7ZW70;P23919	.|.;KTHY_HUMAN	L|P	28|71	.|ENSP00000304802:L71P	.|ENSP00000304802:L71P	F|L	-|-	1|2	0|0	DTYMK|DTYMK	242273884|242273884	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.581000|0.581000	0.36288|0.36288	8.060000|8.060000	0.89464|0.89464	2.001000|2.001000	0.58596|0.58596	0.533000|0.533000	0.62120|0.62120	TTT|CTT	DTYMK	-	tigrfam_Thymidylate_kinase	ENSG00000168393		0.453	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTYMK	HGNC	protein_coding	OTTHUMT00000257266.2	138	0.00	0	A	NM_012145		242625211	242625211	-1	no_errors	ENST00000305784	ensembl	human	known	69_37n	missense	65	41.44	46	SNP	0.999	G
DUOX2	50506	genome.wustl.edu	37	15	45399600	45399600	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:45399600C>T	ENST00000603300.1	-	14	1838	c.1636G>A	c.(1636-1638)Gct>Act	p.A546T	DUOX2_ENST00000389039.6_Missense_Mutation_p.A546T	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	546	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGATAACAGCGACCAGCACG	0.532																																						dbGAP											0													157.0	138.0	144.0					15																	45399600		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1636G>A	15.37:g.45399600C>T	ENSP00000475084:p.Ala546Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.A546T	ENST00000603300.1	37	c.1636	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	C	5.355	0.250768	0.10130	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.5	1.5	0.22942	.	0.368889	0.29537	N	0.011880	T	0.43322	0.1242	M	0.84511	2.7	0.09310	N	0.999995	B;B	0.31989	0.037;0.35	B;B	0.31101	0.052;0.124	T	0.31752	-0.9932	9	0.14252	T	0.57	-3.2067	5.9291	0.19128	0.1217:0.5974:0.0:0.2809	.	546;108	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	T	546	.	ENSP00000373691:A546T	A	-	1	0	DUOX2	43186892	0.000000	0.05858	0.142000	0.22268	0.054000	0.15201	0.268000	0.18571	0.299000	0.22661	-0.140000	0.14226	GCT	DUOX2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000140279		0.532	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		94	0.00	0	C	NM_014080		45399600	45399600	-1	no_errors	ENST00000389039	ensembl	human	known	69_37n	missense	57	40.00	38	SNP	0.026	T
DUOX1	53905	genome.wustl.edu	37	15	45444530	45444530	+	Silent	SNP	C	C	T	rs566850299		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:45444530C>T	ENST00000321429.4	+	26	3647	c.3240C>T	c.(3238-3240)cgC>cgT	p.R1080R	DUOX1_ENST00000389037.3_Silent_p.R1080R|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Silent_p.R726R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1080	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACACCACCCGCGTGGGAATCA	0.602																																						dbGAP											0													162.0	119.0	133.0					15																	45444530		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3240C>T	15.37:g.45444530C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.R1080	ENST00000321429.4	37	c.3240	CCDS32221.1	15																																																																																			DUOX1	-	NULL	ENSG00000137857		0.602	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	57	0.00	0	C	NM_017434		45444530	45444530	+1	no_errors	ENST00000321429	ensembl	human	known	69_37n	silent	25	44.44	20	SNP	1.000	T
DUSP1	1843	genome.wustl.edu	37	5	172196716	172196716	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:172196716C>T	ENST00000239223.3	-	3	837	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	199	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GCAGTGATGCCCAAGGCATCC	0.537																																						dbGAP											0													188.0	155.0	166.0					5																	172196716		2203	4300	6503	-	-	-	SO:0001583	missense	0			X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.595G>A	5.37:g.172196716C>T	ENSP00000239223:p.Gly199Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQL9|Q2V508	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.G199S	ENST00000239223.3	37	c.595	CCDS4380.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.353179	0.95830	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.65549	-0.16	5.32	5.32	0.75619	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.83156	0.5193	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86106	0.1559	10	0.66056	D	0.02	.	19.0154	0.92892	0.0:1.0:0.0:0.0	.	199;156	P28562;B4DNT2	DUS1_HUMAN;.	S	199;172;134	ENSP00000239223:G199S	ENSP00000239223:G199S	G	-	1	0	DUSP1	172129322	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.729000	0.84864	2.498000	0.84270	0.561000	0.74099	GGC	DUSP1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP	ENSG00000120129		0.537	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP1	HGNC	protein_coding	OTTHUMT00000252943.3	107	0.00	0	C	NM_004417		172196716	172196716	-1	no_errors	ENST00000239223	ensembl	human	known	69_37n	missense	43	41.89	31	SNP	1.000	T
DUSP10	11221	genome.wustl.edu	37	1	221913067	221913067	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:221913067T>A	ENST00000366899.3	-	2	258	c.20A>T	c.(19-21)gAc>gTc	p.D7V	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	7					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TACCCTGTCGTCTAAAGGAGA	0.488																																						dbGAP											0													74.0	73.0	73.0					1																	221913067		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.20A>T	1.37:g.221913067T>A	ENSP00000355866:p.Asp7Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.D7V	ENST00000366899.3	37	c.20	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.268017	0.80469	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.04406	3.63	5.61	5.61	0.85477	.	0.200119	0.42821	D	0.000655	T	0.12860	0.0312	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.03739	-1.1008	10	0.87932	D	0	.	15.8012	0.78454	0.0:0.0:0.0:1.0	.	7	Q9Y6W6	DUS10_HUMAN	V	7	ENSP00000355866:D7V	ENSP00000355866:D7V	D	-	2	0	DUSP10	219979690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.147000	0.66899	0.528000	0.53228	GAC	DUSP10	-	NULL	ENSG00000143507		0.488	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	142	0.00	0	T	NM_007207		221913067	221913067	-1	no_errors	ENST00000366899	ensembl	human	known	69_37n	missense	134	33.00	66	SNP	1.000	A
DUSP21	63904	genome.wustl.edu	37	X	44703610	44703610	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:44703610G>A	ENST00000339042.4	+	1	362	c.232G>A	c.(232-234)Gac>Aac	p.D78N		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	78	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGATGCTCGTGACTCGCGTCT	0.527																																						dbGAP											0													196.0	154.0	168.0					X																	44703610		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.232G>A	X.37:g.44703610G>A	ENSP00000343244:p.Asp78Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.D78N	ENST00000339042.4	37	c.232	CCDS14264.1	X	.	.	.	.	.	.	.	.	.	.	g	5.346	0.249126	0.10130	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	D	0.85556	-2.0	3.82	2.67	0.31697	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	1.691260	0.02569	N	0.097614	T	0.71685	0.3369	N	0.12422	0.21	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.59139	-0.7510	10	0.14252	T	0.57	.	4.6214	0.12450	0.7201:0.0:0.2799:0.0	.	78	Q9H596	DUS21_HUMAN	N	78;77	ENSP00000343244:D78N	ENSP00000343244:D78N	D	+	1	0	DUSP21	44588554	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.822000	0.39052	0.651000	0.30788	-0.347000	0.07816	GAC	DUSP21	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000189037		0.527	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP21	HGNC	protein_coding	OTTHUMT00000056323.1	198	0.00	0	G	NM_022076		44703610	44703610	+1	no_errors	ENST00000339042	ensembl	human	known	69_37n	missense	126	39.71	83	SNP	0.001	A
DYNC1I1	1780	genome.wustl.edu	37	7	95434081	95434081	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:95434081delA	ENST00000324972.6	+	2	233	c.40delA	c.(40-42)aaafs	p.K15fs	DYNC1I1_ENST00000437599.1_Frame_Shift_Del_p.K15fs|DYNC1I1_ENST00000413338.1_Frame_Shift_Del_p.K15fs|DYNC1I1_ENST00000537881.1_Frame_Shift_Del_p.K15fs|DYNC1I1_ENST00000457059.1_Frame_Shift_Del_p.K15fs|DYNC1I1_ENST00000359388.4_Frame_Shift_Del_p.K15fs|DYNC1I1_ENST00000447467.2_Frame_Shift_Del_p.K15fs	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	15	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTAGAGCGCAAAAAGCAGCG	0.398																																						dbGAP											0													85.0	92.0	89.0					7																	95434081		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.40delA	7.37:g.95434081delA	ENSP00000320130:p.Lys15fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Frame_Shift_Del	DEL	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.K15fs	ENST00000324972.6	37	c.40	CCDS5644.1	7																																																																																			DYNC1I1	-	NULL	ENSG00000158560		0.398	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	63	0.00	0	A	NM_004411		95434081	95434081	+1	no_errors	ENST00000324972	ensembl	human	known	69_37n	frame_shift_del	35	40.00	24	DEL	1.000	-
DYRK2	8445	genome.wustl.edu	37	12	68052279	68052279	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:68052279G>A	ENST00000344096.3	+	3	2005	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.R458Q	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	531	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CAGGCTTTGCGGCACCCCTGG	0.547																																						dbGAP											0													81.0	85.0	84.0					12																	68052279		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1592G>A	12.37:g.68052279G>A	ENSP00000342105:p.Arg531Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V9|Q9BRB5	Missense_Mutation	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	p.R531Q	ENST00000344096.3	37	c.1592	CCDS8978.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983374	0.74474	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.63913	-0.07;-0.07	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	N	0.03983	-0.305	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.63479	-0.6628	9	.	.	.	.	19.9428	0.97171	0.0:0.0:1.0:0.0	.	531	Q92630	DYRK2_HUMAN	Q	531;458	ENSP00000342105:R531Q;ENSP00000377186:R458Q	.	R	+	2	0	DYRK2	66338546	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.869000	0.99810	2.800000	0.96347	0.455000	0.32223	CGG	DYRK2	-	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	ENSG00000127334		0.547	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK2	HGNC	protein_coding	OTTHUMT00000402218.1	324	0.00	0	G			68052279	68052279	+1	no_errors	ENST00000344096	ensembl	human	known	69_37n	missense	190	43.49	147	SNP	1.000	A
DYRK3	8444	genome.wustl.edu	37	1	206821776	206821776	+	Silent	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:206821776A>C	ENST00000367109.2	+	3	1401	c.1233A>C	c.(1231-1233)ggA>ggC	p.G411G	DYRK3_ENST00000367108.3_Silent_p.G391G|DYRK3_ENST00000367106.1_Silent_p.G391G|DYRK3_ENST00000489878.1_Intron	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTTCCCTGGAGAGGATGAAG	0.468																																					Melanoma(164;427 2622 26826 51707)	dbGAP											0													117.0	125.0	123.0					1																	206821776		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1233A>C	1.37:g.206821776A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	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	p.G411	ENST00000367109.2	37	c.1233	CCDS30999.1	1																																																																																			DYRK3	-	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	ENSG00000143479		0.468	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK3	HGNC	protein_coding	OTTHUMT00000088458.1	433	0.23	1	A	NM_003582		206821776	206821776	+1	no_errors	ENST00000367109	ensembl	human	known	69_37n	silent	498	24.89	165	SNP	0.897	C
PIGB	9488	genome.wustl.edu	37	15	55647722	55647723	+	3'UTR	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:55647722_55647723insA	ENST00000164305.5	+	0	2048_2049				DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_3'UTR|CCPG1_ENST00000310958.6_3'UTR|PIGB_ENST00000539642.1_3'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATGGAACTTAGAAAAAAGCTGT	0.307																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.*93->A	15.37:g.55647728_55647728dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FF9|Q8WVN7	RNA	INS	-	NULL	ENST00000164305.5	37	NULL		15																																																																																			DYX1C1-CCPG1	-	-	ENSG00000261771		0.307	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	DYX1C1-CCPG1	HGNC	protein_coding	OTTHUMT00000419687.1	99	0.00	0	-	NM_004855		55647722	55647723	-1	no_errors	ENST00000565113	ensembl	human	known	69_37n	rna	51	43.33	39	INS	0.000:0.000	A
DZANK1	55184	genome.wustl.edu	37	20	18435935	18435936	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:18435935_18435936delGA	ENST00000358866.6	-	3	355_356	c.333_334delTC	c.(331-336)tctcctfs	p.P112fs	DZANK1_ENST00000329494.5_Frame_Shift_Del_p.P112fs|DZANK1_ENST00000262547.5_Frame_Shift_Del_p.P112fs|DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000487128.1_5'Flank			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	112							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TTGTCTTCAGGAGAGACTATAT	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.333_334delTC	20.37:g.18435939_18435940delGA	ENSP00000351734:p.Pro112fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Frame_Shift_Del	DEL	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.P112fs	ENST00000358866.6	37	c.334_333	CCDS46582.1	20																																																																																			DZANK1	-	NULL	ENSG00000089091		0.356	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	40	0.00	0	GA	NM_001099407		18435935	18435936	-1	no_errors	ENST00000262547	ensembl	human	known	69_37n	frame_shift_del	26	42.22	19	DEL	0.092:0.092	-
E2F4	1874	genome.wustl.edu	37	16	67229793	67229794	+	In_Frame_Ins	INS	-	-	CAG	rs3830472|rs552823502|rs562856782		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:67229793_67229794insCAG	ENST00000379378.3	+	7	976_977	c.917_918insCAG	c.(916-921)gacagc>gaCAGcagc	p.319_320insS		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	319	Poly-Ser.		S -> SSSS.		blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S319_N320insS(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GCCCTGCTGGAcagcagcagca	0.604																																						dbGAP											1	Insertion - In frame(1)	breast(1)																																								-	-	-	SO:0001652	inframe_insertion	0			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.954_956dupCAG	16.37:g.67229800_67229802dupCAG	ENSP00000368686:p.Ser320_Ser321dup	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGR8|B5BU56|Q12991|Q15328	In_Frame_Ins	INS	pfam_E2F_TDP	p.310in_frame_insS	ENST00000379378.3	37	c.917_918	CCDS32464.1	16																																																																																			E2F4	-	NULL	ENSG00000205250		0.604	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	HGNC	protein_coding	OTTHUMT00000421565.1	48	0.00	0	-	NM_001950		67229793	67229794	+1	no_errors	ENST00000379378	ensembl	human	known	69_37n	in_frame_ins	22	24.14	7	INS	1.000:0.995	CAG
E2F6	1876	genome.wustl.edu	37	2	11587798	11587798	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:11587798C>A	ENST00000381525.3	-	6	1023	c.754G>T	c.(754-756)Ggg>Tgg	p.G252W	E2F6_ENST00000307236.4_Missense_Mutation_p.G220W|E2F6_ENST00000546212.1_Missense_Mutation_p.G177W|E2F6_ENST00000542100.1_Missense_Mutation_p.G177W|E2F6_ENST00000362009.4_3'UTR	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	252	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		GAAGAGGTCCCGACACCTTCA	0.433																																						dbGAP											0													111.0	103.0	105.0					2																	11587798		1875	4101	5976	-	-	-	SO:0001583	missense	0			AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.754G>T	2.37:g.11587798C>A	ENSP00000370936:p.Gly252Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	pfam_E2F_TDP	p.G252W	ENST00000381525.3	37	c.754	CCDS1680.2	2	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573899	0.28092	.	.	ENSG00000169016	ENST00000381525;ENST00000307236;ENST00000542100;ENST00000546212	T;T;T;T	0.12774	2.65;2.67;2.68;2.68	4.51	1.56	0.23342	.	.	.	.	.	T	0.17109	0.0411	L	0.55481	1.735	0.09310	N	1	P;D	0.54964	0.832;0.969	B;P	0.50231	0.431;0.635	T	0.16158	-1.0412	9	0.87932	D	0	-3.7851	2.7544	0.05289	0.1475:0.5346:0.1439:0.174	.	252;220	O75461;G5E936	E2F6_HUMAN;.	W	252;220;177;177	ENSP00000370936:G252W;ENSP00000302159:G220W;ENSP00000446315:G177W;ENSP00000438864:G177W	ENSP00000302159:G220W	G	-	1	0	E2F6	11505249	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	0.213000	0.17521	0.429000	0.26202	0.467000	0.42956	GGG	E2F6	-	NULL	ENSG00000169016		0.433	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F6	HGNC	protein_coding	OTTHUMT00000207101.2	203	0.00	0	C	NM_001952		11587798	11587798	-1	no_errors	ENST00000381525	ensembl	human	known	69_37n	missense	107	47.29	96	SNP	0.000	A
E2F8	79733	genome.wustl.edu	37	11	19252333	19252333	+	Missense_Mutation	SNP	C	C	A	rs375962806		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:19252333C>A	ENST00000527884.1	-	8	1347	c.1115G>T	c.(1114-1116)cGg>cTg	p.R372L	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.R372L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	372					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTTGAAGACCGTCTCACCTC	0.423																																						dbGAP											0													71.0	69.0	70.0					11																	19252333		2199	4293	6492	-	-	-	SO:0001583	missense	0				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1115G>T	11.37:g.19252333C>A	ENSP00000434199:p.Arg372Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.R372L	ENST00000527884.1	37	c.1115	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	C	7.908	0.735837	0.15574	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.18174	2.23;2.23	5.76	-2.77	0.05877	.	0.904679	0.09568	N	0.784582	T	0.12860	0.0312	L	0.34521	1.04	0.09310	N	1	B	0.21905	0.062	B	0.19391	0.025	T	0.32241	-0.9914	10	0.41790	T	0.15	-0.0491	11.6798	0.51451	0.0:0.2125:0.0:0.7875	.	372	A0AVK6	E2F8_HUMAN	L	372	ENSP00000434199:R372L;ENSP00000250024:R372L	ENSP00000250024:R372L	R	-	2	0	E2F8	19208909	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-0.940000	0.03929	-0.344000	0.08338	0.655000	0.94253	CGG	E2F8	-	NULL	ENSG00000129173		0.423	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	90	0.00	0	C	NM_024680		19252333	19252333	-1	no_errors	ENST00000250024	ensembl	human	known	69_37n	missense	46	42.50	34	SNP	0.000	A
EAPP	55837	genome.wustl.edu	37	14	34998589	34998589	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:34998589C>T	ENST00000250454.3	-	4	526	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	149					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TCAACCCAGGCCTGATCTCTG	0.313																																						dbGAP											0													161.0	141.0	147.0					14																	34998589		1824	4084	5908	-	-	-	SO:0001583	missense	0			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.445G>A	14.37:g.34998589C>T	ENSP00000250454:p.Ala149Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	pfam_E2F-assoc_phosphoprotein	p.A149T	ENST00000250454.3	37	c.445	CCDS41941.1	14	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792564	0.70452	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	T;T	0.43688	0.94;0.94	5.19	4.28	0.50868	.	0.156118	0.56097	D	0.000026	T	0.50257	0.1605	M	0.77616	2.38	0.43271	D	0.995223	P	0.44521	0.837	P	0.48982	0.597	T	0.43393	-0.9394	10	0.23302	T	0.38	-12.7603	11.1201	0.48284	0.0:0.8522:0.0:0.1478	.	149	Q56P03	EAPP_HUMAN	T	149;128	ENSP00000250454:A149T;ENSP00000450908:A128T	ENSP00000250454:A149T	A	-	1	0	EAPP	34068340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.124000	0.57924	2.599000	0.87857	0.585000	0.79938	GCC	EAPP	-	pfam_E2F-assoc_phosphoprotein	ENSG00000129518		0.313	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAPP	HGNC	protein_coding	OTTHUMT00000409847.1	149	0.00	0	C	NM_018453		34998589	34998589	-1	no_errors	ENST00000250454	ensembl	human	known	69_37n	missense	104	43.55	81	SNP	1.000	T
EARS2	124454	genome.wustl.edu	37	16	23536559	23536559	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:23536559C>T	ENST00000563459.1	-	8	1495				EARS2_ENST00000564987.1_Intron|EARS2_ENST00000563232.1_Silent_p.R498R|EARS2_ENST00000564501.1_Intron|EARS2_ENST00000449606.1_Intron			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CGTGTCCCTGCCTCACCTGCT	0.488																																						dbGAP											0													121.0	121.0	121.0					16																	23536559		1961	4148	6109	-	-	-	SO:0001627	intron_variant	0			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1488+5G>A	16.37:g.23536559C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Glu-tRNA-synth_Ib_bac/mito	p.R498	ENST00000563459.1	37	c.1494	CCDS42132.1	16																																																																																			EARS2	-	tigrfam_Glu-tRNA-synth_Ib_bac/mito	ENSG00000103356		0.488	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	EARS2	HGNC	protein_coding	OTTHUMT00000434844.1	70	0.00	0	C	NM_133451		23536559	23536559	-1	no_errors	ENST00000563232	ensembl	human	novel	69_37n	silent	55	36.78	32	SNP	0.413	T
EBF3	253738	genome.wustl.edu	37	10	131761305	131761305	+	Intron	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:131761305T>C	ENST00000355311.5	-	3	364				EBF3_ENST00000368648.3_Intron			Q9H4W6	COE3_HUMAN	early B-cell factor 3						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTTAGTGCGATCGGTGTCAGG	0.542																																						dbGAP											0													129.0	119.0	123.0					10																	131761305		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.292-36A>G	10.37:g.131761305T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUY1|Q5T6H9|Q9H4W5	RNA	SNP	-	NULL	ENST00000355311.5	37	NULL		10																																																																																			EBF3	-	-	ENSG00000108001		0.542	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	19	0.00	0	T	NM_001005463		131761305	131761305	-1	no_errors	ENST00000471715	ensembl	human	known	69_37n	rna	15	37.50	9	SNP	0.000	C
ECHDC1	55862	genome.wustl.edu	37	6	127648231	127648231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:127648231delC	ENST00000531967.1	-	3	800	c.297delG	c.(295-297)gggfs	p.G99fs	ECHDC1_ENST00000368291.2_Frame_Shift_Del_p.G93fs|ECHDC1_ENST00000430841.2_Frame_Shift_Del_p.G93fs|ECHDC1_ENST00000368289.2_Frame_Shift_Del_p.G93fs|ECHDC1_ENST00000454859.3_Frame_Shift_Del_p.G93fs|ECHDC1_ENST00000474289.2_Frame_Shift_Del_p.G93fs|ECHDC1_ENST00000528402.1_Frame_Shift_Del_p.G18fs|ECHDC1_ENST00000454591.2_Frame_Shift_Del_p.G18fs|ECHDC1_ENST00000309620.9_Frame_Shift_Del_p.G93fs	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	99						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TGAGGCCTTTCCCCTCTGTCC	0.408																																						dbGAP											0													109.0	102.0	104.0					6																	127648231		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.297delG	6.37:g.127648231delC	ENSP00000436585:p.Gly99fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Frame_Shift_Del	DEL	pfam_Crotonase_core	p.G101fs	ENST00000531967.1	37	c.297	CCDS47471.1	6																																																																																			ECHDC1	-	pfam_Crotonase_core	ENSG00000093144		0.408	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	297	0.00	0	C			127648231	127648231	-1	no_errors	ENST00000531967	ensembl	human	known	69_37n	frame_shift_del	156	34.27	85	DEL	1.000	-
EDIL3	10085	genome.wustl.edu	37	5	83360656	83360656	+	Missense_Mutation	SNP	C	C	T	rs368525977		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:83360656C>T	ENST00000296591.5	-	8	1233	c.815G>A	c.(814-816)cGt>cAt	p.R272H	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.R262H	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	272	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AATGTTTCCACGAAACACCTG	0.343													C|||	1	0.000199681	0.0	0.0	5008	,	,		18207	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													115.0	117.0	116.0					5																	83360656		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.815G>A	5.37:g.83360656C>T	ENSP00000296591:p.Arg272His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R272H	ENST00000296591.5	37	c.815	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	C	5.515	0.279972	0.10458	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98207	-4.79;-4.79	5.51	1.77	0.24775	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.190828	0.56097	N	0.000026	D	0.94958	0.8369	L	0.37630	1.12	0.54753	D	0.999982	B;B;B	0.14438	0.01;0.001;0.0	B;B;B	0.14023	0.01;0.001;0.003	D	0.90062	0.4157	10	0.35671	T	0.21	-9.9959	9.8489	0.41043	0.0:0.7246:0.0:0.2754	.	49;262;272	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	H	272;262	ENSP00000296591:R272H;ENSP00000369483:R262H	ENSP00000296591:R272H	R	-	2	0	EDIL3	83396412	1.000000	0.71417	0.999000	0.59377	0.197000	0.23852	1.964000	0.40462	0.397000	0.25310	0.460000	0.39030	CGT	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.343	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	233	0.00	0	C	NM_005711		83360656	83360656	-1	no_errors	ENST00000296591	ensembl	human	known	69_37n	missense	85	44.08	67	SNP	1.000	T
EFHC2	80258	genome.wustl.edu	37	X	44094659	44094660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:44094659_44094660insA	ENST00000420999.1	-	9	1397_1398	c.1314_1315insT	c.(1312-1317)tttgcafs	p.A439fs		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	439	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ACTAGTTTTGCAAAAAAACGGA	0.342																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1315dupT	X.37:g.44094666_44094666dupA	ENSP00000404232:p.Ala439fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Frame_Shift_Ins	INS	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2	p.A438fs	ENST00000420999.1	37	c.1315_1314	CCDS55405.1	X																																																																																			EFHC2	-	smart_Uncharacterised_DM10	ENSG00000183690		0.342	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2	71	0.00	0	-	NM_025184		44094659	44094660	-1	no_errors	ENST00000333807	ensembl	human	known	69_37n	frame_shift_ins	45	26.23	16	INS	1.000:0.996	A
EGFLAM	133584	genome.wustl.edu	37	5	38427359	38427359	+	Intron	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:38427359G>T	ENST00000354891.3	+	14	2400				EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000322350.5_Intron|EGFLAM_ENST00000336740.6_Intron|EGFLAM_ENST00000397202.2_Intron	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains						extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTCAGGTGAGGGCTGAAAAC	0.498																																					Colon(62;485 1295 3347 17454)	dbGAP											0													128.0	133.0	131.0					5																	38427359		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2054+5G>T	5.37:g.38427359G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	RNA	SNP	-	NULL	ENST00000354891.3	37	NULL	CCDS56363.1	5																																																																																			EGFLAM-AS1	-	-	ENSG00000249491		0.498	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM-AS1	HGNC	protein_coding	OTTHUMT00000367323.1	197	0.00	0	G	NM_152403		38427359	38427359	-1	no_errors	ENST00000508986	ensembl	human	putative	69_37n	rna	118	41.29	83	SNP	0.593	T
EHMT1	79813	genome.wustl.edu	37	9	140707894	140707894	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:140707894G>T	ENST00000460843.1	+	21	3119	c.3092G>T	c.(3091-3093)aGc>aTc	p.S1031I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1031					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCCGTGGACAGCGAGCCATGC	0.582																																						dbGAP											0													144.0	84.0	104.0					9																	140707894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3092G>T	9.37:g.140707894G>T	ENSP00000417980:p.Ser1031Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	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.S1031I	ENST00000460843.1	37	c.3092	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933788	0.34096	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.78364	-1.17	4.99	1.69	0.24217	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.735850	0.14405	N	0.321670	T	0.80909	0.4714	M	0.70595	2.14	0.09310	N	1	P	0.43352	0.804	P	0.53062	0.717	T	0.69355	-0.5167	10	0.52906	T	0.07	.	6.1329	0.20215	0.2815:0.1391:0.5794:0.0	.	1031	Q9H9B1	EHMT1_HUMAN	I	1000;1031	ENSP00000417980:S1031I	ENSP00000360453:S1000I	S	+	2	0	EHMT1	139827715	0.144000	0.22641	0.065000	0.19835	0.021000	0.10359	1.099000	0.31013	0.506000	0.28125	0.655000	0.94253	AGC	EHMT1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub	ENSG00000181090		0.582	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	24	0.00	0	G	NM_024757		140707894	140707894	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.011	T
EIF2D	1939	genome.wustl.edu	37	1	206770512	206770512	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:206770512G>A	ENST00000271764.2	-	12	1534	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C	EIF2D_ENST00000367114.3_Silent_p.C318C|EIF2D_ENST00000472709.2_5'Flank	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	442					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCTCTAAGATGCAGTCACATA	0.443																																						dbGAP											0													151.0	130.0	137.0					1																	206770512		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1326C>T	1.37:g.206770512G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.C442	ENST00000271764.2	37	c.1326	CCDS1465.1	1																																																																																			EIF2D	-	superfamily_SWIB_MDM2_domain	ENSG00000143486		0.443	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	86	0.00	0	G	NM_006893		206770512	206770512	-1	no_errors	ENST00000271764	ensembl	human	known	69_37n	silent	81	27.03	30	SNP	0.929	A
EIF3C	8663	genome.wustl.edu	37	16	28734796	28734796	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:28734796A>T	ENST00000331666.6	+	10	1150	c.964A>T	c.(964-966)Act>Tct	p.T322S	EIF3C_ENST00000395587.1_Missense_Mutation_p.T322S|EIF3C_ENST00000564243.1_Missense_Mutation_p.T312S|EIF3C_ENST00000566866.1_Missense_Mutation_p.T322S|EIF3C_ENST00000566501.1_Missense_Mutation_p.T322S					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						TGCCAAGGGAACTGAGATCAC	0.502																																						dbGAP											0													239.0	297.0	278.0					16																	28734796		2193	4299	6492	-	-	-	SO:0001583	missense	0			U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.964A>T	16.37:g.28734796A>T	ENSP00000332604:p.Thr322Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_eIF3c_N,pfam_PCI_dom,smart_PCI_dom	p.T322S	ENST00000331666.6	37	c.964	CCDS10638.1	16	.	.	.	.	.	.	.	.	.	.	.	13.43	2.233600	0.39498	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985;ENST00000395583;ENST00000454461	.	.	.	4.27	4.27	0.50696	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	L	0.27053	0.805	0.58432	D	0.999994	B;B;D	0.69078	0.127;0.256;0.997	B;B;D	0.77004	0.18;0.137;0.989	T	0.60637	-0.7224	9	0.34782	T	0.22	.	12.8601	0.57908	1.0:0.0:0.0:0.0	.	312;108;322	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	S	322;322;307;170;144	.	ENSP00000332604:T322S	T	+	1	0	EIF3C	28642297	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	7.752000	0.85141	1.929000	0.55896	0.367000	0.22151	ACT	EIF3C	-	pfam_eIF3c_N	ENSG00000184110		0.502	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3C	HGNC	protein_coding	OTTHUMT00000216908.3	694	0.00	0	A	NM_003752		28734796	28734796	+1	no_errors	ENST00000331666	ensembl	human	known	69_37n	missense	521	37.15	308	SNP	1.000	T
EIF5B	9669	genome.wustl.edu	37	2	100009493	100009493	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:100009493C>T	ENST00000289371.6	+	18	3014	c.2812C>T	c.(2812-2814)Ctg>Ttg	p.L938L		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	938					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGAAAAGACCTGGAGAAAAC	0.338																																					Colon(162;2388 2567 2705 3444)	dbGAP											0													86.0	92.0	90.0					2																	100009493		1804	4081	5885	-	-	-	SO:0001819	synonymous_variant	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2812C>T	2.37:g.100009493C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.L938	ENST00000289371.6	37	c.2812	CCDS42721.1	2																																																																																			EIF5B	-	pfam_Transl_elong_EFTu/EF1A_2	ENSG00000158417		0.338	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	187	0.53	1	C	NM_015904		100009493	100009493	+1	no_errors	ENST00000289371	ensembl	human	known	69_37n	silent	90	40.79	62	SNP	1.000	T
ELFN2	114794	genome.wustl.edu	37	22	37771056	37771056	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:37771056G>A	ENST00000402918.2	-	3	1304	c.519C>T	c.(517-519)agC>agT	p.S173S	RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	173					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCTGGCGAGGCTGGCAAAGG	0.642																																						dbGAP											0													45.0	48.0	47.0					22																	37771056		2203	4288	6491	-	-	-	SO:0001819	synonymous_variant	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.519C>T	22.37:g.37771056G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PY3	Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor	p.S173	ENST00000402918.2	37	c.519	CCDS33642.1	22																																																																																			ELFN2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000166897		0.642	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	16	0.00	0	G	NM_052906		37771056	37771056	-1	no_errors	ENST00000349653	ensembl	human	known	69_37n	silent	6	50.00	6	SNP	1.000	A
ELK1	2002	genome.wustl.edu	37	X	47497483	47497483	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:47497483T>C	ENST00000247161.3	-	4	852	c.753A>G	c.(751-753)gaA>gaG	p.E251E	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Silent_p.E251E|ELK1_ENST00000592066.1_Silent_p.E197E	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	251					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CCTTGGGCCCTTCTACTTTCA	0.612																																						dbGAP											0													14.0	14.0	14.0					X																	47497483		2191	4253	6444	-	-	-	SO:0001819	synonymous_variant	0			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.753A>G	X.37:g.47497483T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E251	ENST00000247161.3	37	c.753	CCDS14283.1	X																																																																																			ELK1	-	NULL	ENSG00000126767		0.612	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	12	0.00	0	T	NM_005229		47497483	47497483	-1	no_errors	ENST00000247161	ensembl	human	known	69_37n	silent	15	40.00	10	SNP	0.000	C
ELMO2	63916	genome.wustl.edu	37	20	45014804	45014804	+	Silent	SNP	G	G	A	rs201990540	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:45014804G>A	ENST00000290246.6	-	9	830	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ELMO2_ENST00000445496.2_Silent_p.A29A|ELMO2_ENST00000372176.1_Silent_p.A124A|ELMO2_ENST00000396391.1_Silent_p.A212A|ELMO2_ENST00000439931.2_Silent_p.A212A|ELMO2_ENST00000352077.2_Silent_p.A210A|ELMO2_ENST00000488853.1_5'UTR	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	212					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TGATTTCCTCGGCTATCTTCT	0.527													g|||	3	0.000599042	0.0015	0.0014	5008	,	,		19968	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													135.0	124.0	128.0					20																	45014804		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.636C>T	20.37:g.45014804G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.A212	ENST00000290246.6	37	c.636	CCDS13398.1	20																																																																																			ELMO2	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000062598		0.527	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	220	0.00	0	G	NM_022086		45014804	45014804	-1	no_errors	ENST00000439931	ensembl	human	known	69_37n	silent	155	44.04	122	SNP	0.002	A
ELTD1	64123	genome.wustl.edu	37	1	79385923	79385923	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:79385923C>A	ENST00000370742.3	-	10	1469	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	469					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGAAATAGGCTACAGCAAAG	0.333																																						dbGAP											0													104.0	98.0	100.0					1																	79385923		1823	4071	5894	-	-	-	SO:0001583	missense	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1406G>T	1.37:g.79385923C>A	ENSP00000359778:p.Ser469Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AR71|Q5KU34	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S469I	ENST00000370742.3	37	c.1406	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277018	0.59758	.	.	ENSG00000162618	ENST00000370742	T	0.55052	0.54	5.01	3.03	0.35002	GPCR, family 2-like (1);	0.169497	0.64402	D	0.000004	T	0.61590	0.2359	M	0.87682	2.9	0.58432	D	0.999996	P	0.45126	0.851	P	0.59424	0.857	T	0.64968	-0.6282	9	.	.	.	.	10.0336	0.42116	0.0:0.8264:0.0:0.1736	.	469	Q9HBW9	ELTD1_HUMAN	I	469	ENSP00000359778:S469I	.	S	-	2	0	ELTD1	79158511	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	2.631000	0.46502	0.495000	0.27882	0.655000	0.94253	AGC	ELTD1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000162618		0.333	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	205	0.00	0	C	NM_022159		79385923	79385923	-1	no_errors	ENST00000370742	ensembl	human	known	69_37n	missense	85	42.18	62	SNP	1.000	A
EMG1	10436	genome.wustl.edu	37	12	7080234	7080234	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:7080234C>T	ENST00000261406.6	+	2	289	c.146C>T	c.(145-147)gCc>gTc	p.A49V	PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CTGGAAGGGGCCAGTCTGGAG	0.572																																						dbGAP											0													26.0	27.0	27.0					12																	7080234		1961	4134	6095	-	-	-	SO:0001583	missense	0			U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.146C>T	12.37:g.7080234C>T	ENSP00000476966:p.Ala49Val	Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000261406.6	37	NULL		12																																																																																			EMG1	-	-	ENSG00000126749		0.572	EMG1-201	KNOWN	basic|appris_principal	protein_coding	EMG1	HGNC	protein_coding		21	0.00	0	C	NM_006331		7080234	7080234	+1	no_errors	ENST00000261406	ensembl	human	known	69_37n	rna	14	46.15	12	SNP	1.000	T
EMID1	129080	genome.wustl.edu	37	22	29622474	29622474	+	3'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:29622474C>T	ENST00000484039.1	+	0	202				EMID1_ENST00000404755.3_Intron|EMID1_ENST00000404820.3_Intron|EMID1_ENST00000334018.6_Intron			Q96A84	EMID1_HUMAN	EMI domain containing 1							collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CCTCCCTCCCCGCAGGTTGTC	0.612																																						dbGAP											0													53.0	45.0	48.0					22																	29622474		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000484039.1:c.*199C>T	22.37:g.29622474C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYK6|Q6ICG1|Q86SS7	RNA	SNP	-	NULL	ENST00000484039.1	37	NULL		22																																																																																			EMID1	-	-	ENSG00000186998		0.612	EMID1-007	KNOWN	basic	processed_transcript	EMID1	HGNC	protein_coding	OTTHUMT00000321080.1	22	0.00	0	C	NM_133455		29622474	29622474	+1	no_errors	ENST00000484039	ensembl	human	known	69_37n	rna	9	50.00	9	SNP	0.000	T
COL26A1	136227	genome.wustl.edu	37	7	101200768	101200768	+	RNA	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:101200768C>T	ENST00000397927.3	+	0	1496				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											TTGGGCCCGACCCTGGACAGA	0.647																																						dbGAP											0													31.0	35.0	34.0					7																	101200768		1995	4174	6169	-	-	-			0			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101200768C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32M90	Missense_Mutation	SNP	NULL	p.T428I	ENST00000397927.3	37	c.1283		7																																																																																			EMID2	-	NULL	ENSG00000160963		0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	EMID2	HGNC	polymorphic_pseudogene	OTTHUMT00000315898.2	35	0.00	0	C	NM_133457		101200768	101200768	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000397927	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.614	T
EML2	24139	genome.wustl.edu	37	19	46124834	46124834	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:46124834G>A	ENST00000245925.3	-	10	953	c.903C>T	c.(901-903)tgC>tgT	p.C301C	EML2_ENST00000536630.1_Silent_p.C448C|EML2_ENST00000587152.1_Silent_p.C502C|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Silent_p.C301C	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	301	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCCGCAGGGCGCAGAGCCCAA	0.682																																						dbGAP											0													43.0	44.0	44.0					19																	46124834		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.903C>T	19.37:g.46124834G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C502	ENST00000245925.3	37	c.1506	CCDS12670.1	19																																																																																			EML2	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000125746		0.682	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	40	0.00	0	G	NM_012155		46124834	46124834	-1	no_errors	ENST00000587152	ensembl	human	known	69_37n	silent	64	33.33	32	SNP	1.000	A
EML4	27436	genome.wustl.edu	37	2	42530465	42530465	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:42530465A>G	ENST00000318522.5	+	16	2040	c.1778A>G	c.(1777-1779)gAt>gGt	p.D593G	EML4_ENST00000402711.2_Missense_Mutation_p.D535G|EML4_ENST00000453191.2_5'UTR|EML4_ENST00000401738.3_Missense_Mutation_p.D604G	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	593					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						GGTCATACAGATGAGCTTTGG	0.413			T	ALK	NSCLC																																	dbGAP		Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													167.0	162.0	164.0					2																	42530465		2203	4300	6503	-	-	-	SO:0001583	missense	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.1778A>G	2.37:g.42530465A>G	ENSP00000320663:p.Asp593Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_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.D593G	ENST00000318522.5	37	c.1778	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469887	0.84533	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.58797	0.31;0.31;0.31	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.085211	0.85682	D	0.000000	T	0.66538	0.2799	L	0.41961	1.31	0.80722	D	1	D;P;P	0.59767	0.986;0.656;0.802	D;P;P	0.67548	0.952;0.683;0.73	T	0.62723	-0.6794	10	0.27785	T	0.31	-21.0689	14.617	0.68556	1.0:0.0:0.0:0.0	.	535;604;593	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	G	593;535;604	ENSP00000320663:D593G;ENSP00000385059:D535G;ENSP00000384939:D604G	ENSP00000320663:D593G	D	+	2	0	EML4	42383969	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.761000	0.91691	2.238000	0.73509	0.528000	0.53228	GAT	EML4	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143924		0.413	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	254	0.00	0	A	NM_019063		42530465	42530465	+1	no_errors	ENST00000318522	ensembl	human	known	69_37n	missense	141	37.61	85	SNP	1.000	G
EML5	161436	genome.wustl.edu	37	14	89202900	89202900	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:89202900A>G	ENST00000380664.5	-	7	856	c.857T>C	c.(856-858)gTa>gCa	p.V286A	EML5_ENST00000352093.5_Missense_Mutation_p.V286A|EML5_ENST00000554922.1_Missense_Mutation_p.V286A			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	286						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACACTCCTTACAGACAAACC	0.368																																						dbGAP											0													103.0	99.0	100.0					14																	89202900		1849	4083	5932	-	-	-	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.857T>C	14.37:g.89202900A>G	ENSP00000370039:p.Val286Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V286A	ENST00000380664.5	37	c.857	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405090	0.62288	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.01887	4.68;4.68;4.58	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.03011	0.0089	L	0.42245	1.32	0.58432	D	0.999993	P	0.36412	0.552	B	0.32465	0.146	T	0.57934	-0.7725	10	0.41790	T	0.15	-10.6651	15.1382	0.72586	1.0:0.0:0.0:0.0	.	286	Q05BV3	EMAL5_HUMAN	A	286	ENSP00000451998:V286A;ENSP00000298315:V286A;ENSP00000370039:V286A	ENSP00000298315:V286A	V	-	2	0	EML5	88272653	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.761000	0.91691	2.166000	0.68216	0.533000	0.62120	GTA	EML5	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000165521		0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	426	0.00	0	A			89202900	89202900	-1	no_errors	ENST00000554922	ensembl	human	known	69_37n	missense	233	38.20	144	SNP	1.000	G
GFOD1	54438	genome.wustl.edu	37	6	13470337	13470337	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:13470337C>T	ENST00000379287.3	-	1	918				AL583828.1_ENST00000558378.1_Missense_Mutation_p.G59D|GFOD1_ENST00000603223.1_3'UTR|GFOD1_ENST00000379278.3_5'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GTTTGAAAAACCGATAAATAC	0.438																																						dbGAP											0													68.0	64.0	65.0					6																	13470337		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16532G>A	6.37:g.13470337C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	NULL	p.G59D	ENST00000379287.3	37	c.176	CCDS4524.1	6	.	.	.	.	.	.	.	.	.	.	C	9.545	1.114473	0.20795	.	.	ENSG00000187461	ENST00000379278	.	.	.	3.53	0.344	0.16006	.	.	.	.	.	T	0.11793	0.0287	.	.	.	0.09310	N	1	B	0.27732	0.187	B	0.24701	0.055	T	0.26258	-1.0108	7	0.87932	D	0	.	3.7349	0.08507	0.4313:0.4427:0.0:0.126	.	59	Q9NXC2-3	.	D	59	.	ENSP00000368580:G59D	G	-	2	0	AL583828.1	13578316	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.158000	0.10070	0.286000	0.22352	-0.314000	0.08810	GGT	AL583828.1	-	NULL	ENSG00000187461		0.438	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000187461	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000039902.1	54	0.00	0	C	NM_018988		13470337	13470337	-1	no_errors	ENST00000558378	ensembl	human	known	69_37n	missense	25	41.86	18	SNP	0.000	T
NXF4	55999	genome.wustl.edu	37	X	101822060	101822060	+	RNA	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:101822060A>G	ENST00000360035.2	+	0	1813					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						CTTCCCTTTCAGGAAAGGATG	0.473																																						dbGAP											0																																										-	-	-			0			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101822060A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	NULL	ENST00000360035.2	37	c.NULL		X																																																																																			RP5-1100E15.3	-	-	ENSG00000240127		0.473	NXF4-001	KNOWN	basic	processed_transcript	ENSG00000240127	Clone_based_vega_gene	pseudogene	OTTHUMT00000095720.1	82	0.00	0	A			101822060	101822060	+1	no_coding_region:pseudogene	ENST00000416098	ensembl	human	known	69_37n	splice_site	52	31.17	24	SNP	0.995	G
HOMEZ	57594	genome.wustl.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:23745310delA	ENST00000357460.5	-	2	1291	c.1127delT	c.(1126-1128)ttafs	p.L376fs	HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											112.0	119.0	116.0					14																	23745310		1948	4135	6083	-	-	-	SO:0001589	frameshift_variant	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1127delT	14.37:g.23745310delA	ENSP00000350049:p.Leu376fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L378fs	ENST00000357460.5	37	c.1133	CCDS45085.1	14																																																																																			RP11-124D2.6	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000260175		0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000260175	Clone_based_vega_gene	protein_coding	OTTHUMT00000416939.2	47	0.00	0	A	NM_020834		23745310	23745310	-1	no_errors	ENST00000431326	ensembl	human	known	69_37n	frame_shift_del	40	46.84	37	DEL	1.000	-
ENTHD2	146705	genome.wustl.edu	37	17	79205429	79205429	+	Missense_Mutation	SNP	C	C	T	rs541063582		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:79205429C>T	ENST00000300714.3	-	9	821	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.R171Q|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	255						cytoplasmic vesicle (GO:0031410)											GCGTGGTCCCCGAGTCACAGT	0.667																																						dbGAP											0													35.0	32.0	33.0					17																	79205429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.764G>A	17.37:g.79205429C>T	ENSP00000300714:p.Arg255Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.R255Q	ENST00000300714.3	37	c.764	CCDS11779.1	17	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.328588	0.01309	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.22336	1.96;1.96	4.79	-5.06	0.02946	.	1.006700	0.07969	N	0.983755	T	0.07773	0.0195	N	0.03324	-0.35	0.09310	N	1	B;B	0.19073	0.006;0.033	B;B	0.13407	0.001;0.009	T	0.45220	-0.9276	10	0.05351	T	0.99	-2.0376	15.0299	0.71698	0.0:0.2704:0.0:0.7296	.	255;171	Q96N21;Q96N21-2	CQ056_HUMAN;.	Q	255;171	ENSP00000300714:R255Q;ENSP00000363901:R171Q	ENSP00000300714:R255Q	R	-	2	0	C17orf56	76820024	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.189000	0.09629	-0.841000	0.04200	-0.367000	0.07326	CGG	ENTHD2	-	NULL	ENSG00000167302		0.667	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	11	0.00	0	C	NM_144679		79205429	79205429	-1	no_errors	ENST00000300714	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	0.000	T
ENTPD4	9583	genome.wustl.edu	37	8	23292099	23292099	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:23292099G>A	ENST00000358689.4	-	12	1696				ENTPD4_ENST00000417069.2_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4						UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TTGGGGCAGGGGCTTCCTCAG	0.562																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1461-108C>T	8.37:g.23292099G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSS3|O15092	RNA	SNP	-	NULL	ENST00000358689.4	37	NULL	CCDS6041.1	8																																																																																			ENTPD4	-	-	ENSG00000197217		0.562	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1	53	0.00	0	G	NM_004901		23292099	23292099	-1	no_errors	ENST00000522913	ensembl	human	known	69_37n	rna	21	54.35	25	SNP	0.002	A
ENTPD6	955	genome.wustl.edu	37	20	25203408	25203408	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:25203408C>T	ENST00000376652.4	+	12	1208				ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Intron|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000360031.2_Intron			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)						response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTGGGAGGGGCCCCAAGCAGC	0.632																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1046-66C>T	20.37:g.25203408C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	RNA	SNP	-	NULL	ENST00000376652.4	37	NULL	CCDS13170.1	20																																																																																			ENTPD6	-	-	ENSG00000197586		0.632	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENTPD6	HGNC	protein_coding	OTTHUMT00000078414.2	19	0.00	0	C			25203408	25203408	+1	no_errors	ENST00000485936	ensembl	human	known	69_37n	rna	12	42.86	9	SNP	0.002	T
EPB41L3	23136	genome.wustl.edu	37	18	5423422	5423422	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:5423422G>A	ENST00000341928.2	-	11	1634	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R432C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R432C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R432C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R432C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	432	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R432C(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGGATGAGCGTTCAAAGTAA	0.483																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)											194.0	148.0	164.0					18																	5423422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1294C>T	18.37:g.5423422G>A	ENSP00000343158:p.Arg432Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.R432C	ENST00000341928.2	37	c.1294	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747670	0.89663	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	6.08	6.08	0.98989	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.98814	0.9600	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;0.998;1.0	D	0.98997	1.0810	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	432;323;432;432	F5GX05;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	C	432;323;432;323;432;432	ENSP00000343158:R432C;ENSP00000441174:R432C;ENSP00000341138:R432C;ENSP00000382981:R432C	ENSP00000343158:R432C	R	-	1	0	EPB41L3	5413422	1.000000	0.71417	0.998000	0.56505	0.460000	0.32559	7.837000	0.86796	2.894000	0.99253	0.591000	0.81541	CGC	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM-adjacent	ENSG00000082397		0.483	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	147	0.00	0	G	NM_012307		5423422	5423422	-1	no_errors	ENST00000341928	ensembl	human	known	69_37n	missense	20	75.90	63	SNP	1.000	A
EPB41L5	57669	genome.wustl.edu	37	2	120918261	120918261	+	Intron	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:120918261delA	ENST00000263713.5	+	21	2007				EPB41L5_ENST00000452780.1_Intron|EPB41L5_ENST00000488691.1_3'UTR|EPB41L5_ENST00000443902.2_Intron	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5						actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						cttttttattaaaaaaccatt	0.373																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1794-196A>-	2.37:g.120918261delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5S1|Q8IZ12|Q9H975	RNA	DEL	-	NULL	ENST00000263713.5	37	NULL	CCDS2130.1	2																																																																																			EPB41L5	-	-	ENSG00000115109		0.373	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	HGNC	protein_coding	OTTHUMT00000254230.2	42	0.00	0	A	NM_020909		120918261	120918261	+1	no_errors	ENST00000488691	ensembl	human	known	69_37n	rna	22	36.84	14	DEL	0.041	-
EPHA4	2043	genome.wustl.edu	37	2	222308223	222308223	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:222308223A>G	ENST00000281821.2	-	10	1919	c.1878T>C	c.(1876-1878)gtT>gtC	p.V626V	EPHA4_ENST00000392071.4_Silent_p.V575V|EPHA4_ENST00000409938.1_Silent_p.V626V|EPHA4_ENST00000409854.1_Silent_p.V626V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	626	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAACTCCTATAACTTTTTCAA	0.398																																						dbGAP											0													146.0	130.0	135.0					2																	222308223		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1878T>C	2.37:g.222308223A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.V626	ENST00000281821.2	37	c.1878	CCDS2447.1	2																																																																																			EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,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	ENSG00000116106		0.398	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	162	0.00	0	A			222308223	222308223	-1	no_errors	ENST00000281821	ensembl	human	known	69_37n	silent	66	43.59	51	SNP	0.968	G
EPHA7	2045	genome.wustl.edu	37	6	93964516	93964516	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:93964516T>C	ENST00000369303.4	-	14	2567		c.e14-2			NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7						brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTTCCACCCTGTTATAAAAA	0.358																																						dbGAP											0													61.0	54.0	56.0					6																	93964516		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2383-2A>G	6.37:g.93964516T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Splice_Site	SNP	-	e14-2	ENST00000369303.4	37	c.2383-2	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	T	14.70	2.613725	0.46631	.	.	ENSG00000135333	ENST00000369303	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4121	0.74933	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA7	94021237	1.000000	0.71417	0.818000	0.32626	0.282000	0.26991	7.935000	0.87658	2.056000	0.61249	0.533000	0.62120	.	EPHA7	-	-	ENSG00000135333		0.358	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	86	0.00	0	T		Intron	93964516	93964516	-1	no_errors	ENST00000369303	ensembl	human	known	69_37n	splice_site	29	49.12	28	SNP	0.997	C
EPRS	2058	genome.wustl.edu	37	1	220170500	220170500	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:220170500G>A	ENST00000366923.3	-	18	2635	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	789	3 X 57 AA approximate repeats.|WHEP-TRS 1.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CTTATATTCAGCTTTCAAAGA	0.398																																						dbGAP											0													92.0	89.0	90.0					1																	220170500		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2366C>T	1.37:g.220170500G>A	ENSP00000355890:p.Ala789Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.A789V	ENST00000366923.3	37	c.2366	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951529	0.73787	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.34472	1.36	5.62	5.62	0.85841	WHEP-TRS (2);S15/NS1, RNA-binding (2);	0.098864	0.64402	D	0.000002	T	0.61763	0.2373	M	0.73319	2.225	0.54753	D	0.999985	D;P;B	0.71674	0.998;0.489;0.097	D;B;B	0.72338	0.977;0.302;0.248	T	0.61950	-0.6957	10	0.56958	D	0.05	-25.058	19.6764	0.95936	0.0:0.0:1.0:0.0	.	813;796;789	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	V	789;796;813	ENSP00000355890:A789V	ENSP00000355890:A789V	A	-	2	0	EPRS	218237123	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.322000	0.43814	2.660000	0.90430	0.655000	0.94253	GCT	EPRS	-	pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS	ENSG00000136628		0.398	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	199	0.00	0	G	NM_004446		220170500	220170500	-1	no_errors	ENST00000366923	ensembl	human	known	69_37n	missense	182	27.78	70	SNP	1.000	A
EPRS	2058	genome.wustl.edu	37	1	220197683	220197683	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:220197683G>A	ENST00000366923.3	-	8	1135	c.866C>T	c.(865-867)gCt>gTt	p.A289V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	289	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ATCCACATAAGCCTTCCCTTC	0.358																																						dbGAP											0													130.0	113.0	118.0					1																	220197683		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.866C>T	1.37:g.220197683G>A	ENSP00000355890:p.Ala289Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_synth_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_synth_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-synth_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk	p.A289V	ENST00000366923.3	37	c.866	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927814	0.92389	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.38887	1.11	5.52	5.52	0.82312	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	H	0.97214	3.96	0.80722	D	1	P;D;D;P	0.63880	0.747;0.993;0.972;0.762	P;D;D;P	0.75484	0.596;0.933;0.986;0.735	D	0.85894	0.1430	10	0.87932	D	0	-14.0457	19.854	0.96750	0.0:0.0:1.0:0.0	.	313;289;289;289	E7EMN0;F5H7I7;Q3KQZ8;P07814	.;.;.;SYEP_HUMAN	V	289;289;313	ENSP00000355890:A289V	ENSP00000355890:A289V	A	-	2	0	EPRS	218264306	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.443000	0.97568	2.774000	0.95407	0.580000	0.79431	GCT	EPRS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_Ib_arc/euk	ENSG00000136628		0.358	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	81	0.00	0	G	NM_004446		220197683	220197683	-1	no_errors	ENST00000366923	ensembl	human	known	69_37n	missense	96	27.27	36	SNP	1.000	A
EPHX1	2052	genome.wustl.edu	37	1	226032230	226032230	+	Missense_Mutation	SNP	G	G	A	rs556212945		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:226032230G>A	ENST00000366837.4	+	8	1268	c.1072G>A	c.(1072-1074)Gtc>Atc	p.V358I	EPHX1_ENST00000272167.5_Missense_Mutation_p.V358I|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	358					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GCTGACCAACGTCATGCTCTA	0.567																																						dbGAP											0													131.0	107.0	115.0					1																	226032230		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1072G>A	1.37:g.226032230G>A	ENSP00000355802:p.Val358Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.V358I	ENST00000366837.4	37	c.1072	CCDS1547.1	1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445614	0.25987	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.26957	1.7;1.7	5.37	-1.09	0.09904	Alpha/beta hydrolase fold-1 (1);	0.242712	0.41605	N	0.000843	T	0.10294	0.0252	N	0.10629	0.01	0.44880	D	0.997891	B	0.26876	0.162	B	0.27262	0.078	T	0.25222	-1.0138	10	0.09590	T	0.72	-20.843	11.1378	0.48386	0.5659:0.0:0.4341:0.0	.	358	P07099	HYEP_HUMAN	I	358	ENSP00000272167:V358I;ENSP00000355802:V358I	ENSP00000272167:V358I	V	+	1	0	EPHX1	224098853	0.980000	0.34600	0.988000	0.46212	0.882000	0.50991	0.976000	0.29462	-0.125000	0.11703	-0.291000	0.09656	GTC	EPHX1	-	pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase	ENSG00000143819		0.567	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	HGNC	protein_coding	OTTHUMT00000092064.1	56	0.00	0	G	NM_000120		226032230	226032230	+1	no_errors	ENST00000272167	ensembl	human	known	69_37n	missense	65	26.97	24	SNP	0.966	A
EPS8	2059	genome.wustl.edu	37	12	15811475	15811475	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:15811475A>G	ENST00000281172.5	-	11	1418	c.982T>C	c.(982-984)Ttt>Ctt	p.F328L	EPS8_ENST00000542903.1_Missense_Mutation_p.F68L|EPS8_ENST00000543612.1_Missense_Mutation_p.F328L|EPS8_ENST00000543523.1_Missense_Mutation_p.F328L|EPS8_ENST00000540613.1_Missense_Mutation_p.F68L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	328					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGTCAAGAAATTCATCAGGA	0.348																																						dbGAP											0													66.0	77.0	74.0					12																	15811475		2199	4295	6494	-	-	-	SO:0001583	missense	0			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.982T>C	12.37:g.15811475A>G	ENSP00000281172:p.Phe328Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.F328L	ENST00000281172.5	37	c.982	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555327	0.65425	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	4.97	4.97	0.65823	.	0.053823	0.85682	D	0.000000	T	0.61464	0.2349	M	0.86651	2.83	0.58432	D	0.999998	P	0.45569	0.861	P	0.46975	0.533	T	0.71073	-0.4698	10	0.87932	D	0	-17.3441	14.4872	0.67626	1.0:0.0:0.0:0.0	.	328	Q12929	EPS8_HUMAN	L	328;328;328;68;68;328	ENSP00000441867:F328L;ENSP00000281172:F328L;ENSP00000442388:F328L;ENSP00000441888:F68L;ENSP00000437806:F68L	ENSP00000281172:F328L	F	-	1	0	EPS8	15702742	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	6.865000	0.75500	2.092000	0.63282	0.477000	0.44152	TTT	EPS8	-	NULL	ENSG00000151491		0.348	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	272	0.00	0	A			15811475	15811475	-1	no_errors	ENST00000281172	ensembl	human	known	69_37n	missense	141	44.71	114	SNP	1.000	G
ERBB3	2065	genome.wustl.edu	37	12	56495502	56495502	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:56495502T>C	ENST00000267101.3	+	28	4132	c.3692T>C	c.(3691-3693)cTc>cCc	p.L1231P	ERBB3_ENST00000450146.2_Missense_Mutation_p.L588P|ERBB3_ENST00000549832.1_Missense_Mutation_p.L351P|RP11-603J24.9_ENST00000548861.1_Intron|PA2G4_ENST00000303305.6_5'Flank|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000553131.1_Missense_Mutation_p.L472P|ERBB3_ENST00000415288.2_Missense_Mutation_p.L1172P|PA2G4_ENST00000552766.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1231					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGGTCAGACCTCAGTGCCTCT	0.532																																						dbGAP											0													101.0	83.0	89.0					12																	56495502		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3692T>C	12.37:g.56495502T>C	ENSP00000267101:p.Leu1231Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L1231P	ENST00000267101.3	37	c.3692	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750669	0.49257	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79554	-1.12;-1.05;-1.11;-1.28;-1.03	5.63	4.42	0.53409	.	0.223446	0.31461	N	0.007606	T	0.79718	0.4494	N	0.24115	0.695	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.69142	0.962;0.916;0.916	T	0.77507	-0.2562	10	0.33940	T	0.23	.	9.4762	0.38873	0.1578:0.0:0.0:0.8422	.	1172;351;1231	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	P	1231;588;1172;354;472;351	ENSP00000267101:L1231P;ENSP00000399178:L588P;ENSP00000408340:L1172P;ENSP00000449129:L472P;ENSP00000448729:L351P	ENSP00000267101:L1231P	L	+	2	0	ERBB3	54781769	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.820000	0.48057	2.142000	0.66516	0.533000	0.62120	CTC	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.532	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	162	0.00	0	T			56495502	56495502	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	missense	105	44.15	83	SNP	1.000	C
ERBB3	2065	genome.wustl.edu	37	12	56495557	56495557	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:56495557G>A	ENST00000267101.3	+	28	4187	c.3747G>A	c.(3745-3747)atG>atA	p.M1249I	ERBB3_ENST00000450146.2_Missense_Mutation_p.M606I|ERBB3_ENST00000549832.1_Missense_Mutation_p.M369I|RP11-603J24.9_ENST00000548861.1_Intron|PA2G4_ENST00000303305.6_5'Flank|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000553131.1_Missense_Mutation_p.M490I|ERBB3_ENST00000415288.2_Missense_Mutation_p.M1190I|PA2G4_ENST00000552766.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1249					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACCCATCATGCCCACTGCAG	0.562																																						dbGAP											0													84.0	71.0	76.0					12																	56495557		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3747G>A	12.37:g.56495557G>A	ENSP00000267101:p.Met1249Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.M1249I	ENST00000267101.3	37	c.3747	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439490	0.25900	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.77620	-0.98;-0.89;-0.97;-1.11;-0.84	5.29	1.32	0.21799	.	1.020070	0.07778	N	0.952936	T	0.57621	0.2066	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37314	-0.9711	10	0.12430	T	0.62	.	6.2155	0.20653	0.2175:0.0:0.6512:0.1313	.	1190;369;1249	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	I	1249;606;1190;372;490;369	ENSP00000267101:M1249I;ENSP00000399178:M606I;ENSP00000408340:M1190I;ENSP00000449129:M490I;ENSP00000448729:M369I	ENSP00000267101:M1249I	M	+	3	0	ERBB3	54781824	0.000000	0.05858	0.900000	0.35374	0.969000	0.65631	0.446000	0.21694	0.067000	0.16545	0.655000	0.94253	ATG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.562	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	184	0.00	0	G			56495557	56495557	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	missense	119	39.59	78	SNP	0.288	A
EPYC	1833	genome.wustl.edu	37	12	91371911	91371911	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:91371911G>T	ENST00000261172.3	-	3	386	c.294C>A	c.(292-294)ccC>ccA	p.P98P		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	98					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CAGGCTCCTGGGGAGAAGAGC	0.527											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													125.0	122.0	123.0					12																	91371911		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.294C>A	12.37:g.91371911G>T		Somatic	1282	WXS	Illumina GAIIx	Phase_IV	A8K3M7|Q8NEJ5	Silent	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P98	ENST00000261172.3	37	c.294	CCDS31870.1	12																																																																																			EPYC	-	NULL	ENSG00000083782		0.527	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	HGNC	protein_coding	OTTHUMT00000407146.2	236	0.00	0	G	NM_004950		91371911	91371911	-1	no_errors	ENST00000261172	ensembl	human	known	69_37n	silent	117	46.12	101	SNP	0.795	T
ERH	2079	genome.wustl.edu	37	14	69847110	69847110	+	3'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:69847110C>T	ENST00000557016.1	-	0	853				ERH_ENST00000216520.6_5'UTR	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)						cell cycle (GO:0007049)|nucleobase-containing compound metabolic process (GO:0006139)|osteoblast differentiation (GO:0001649)|pyrimidine nucleoside metabolic process (GO:0006213)	membrane (GO:0016020)|midbody (GO:0030496)	poly(A) RNA binding (GO:0044822)								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		GAACAAGATCCTCACATTTCA	0.348																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC014301	CCDS9794.1	14q24.1	2011-05-18	2001-11-28		ENSG00000100632	ENSG00000100632			3447	protein-coding gene	gene with protein product		601191	"""enhancer of rudimentary (Drosophila) homolog"""			8786099, 9074495	Standard	NM_004450		Approved	DROER	uc001xlc.2	P84090		ENST00000557016.1:c.*145G>A	14.37:g.69847110C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5H2|P70659|Q14259	RNA	SNP	-	NULL	ENST00000557016.1	37	NULL	CCDS9794.1	14																																																																																			ERH	-	-	ENSG00000100632		0.348	ERH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERH	HGNC	protein_coding	OTTHUMT00000412990.1	118	0.00	0	C	NM_004450		69847110	69847110	-1	no_errors	ENST00000216520	ensembl	human	putative	69_37n	rna	81	36.22	46	SNP	0.921	T
ERVW-1	30816	genome.wustl.edu	37	7	92098570	92098570	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:92098570C>T	ENST00000493463.2	-	1	2049	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	ERVW-1_ENST00000603053.1_Missense_Mutation_p.A376T|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	376					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						actactgctgctagggagtta	0.438																																						dbGAP											0													21.0	21.0	21.0					7																	92098570		2178	4250	6428	-	-	-	SO:0001583	missense	0			AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.1126G>A	7.37:g.92098570C>T	ENSP00000419945:p.Ala376Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Missense_Mutation	SNP	pfam_TLV/ENV_coat_polyprotein	p.A376T	ENST00000493463.2	37	c.1126	CCDS5626.1	7	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972115	0.53614	.	.	ENSG00000242950	ENST00000493463	T	0.26810	1.71	0.0465	0.0465	0.14256	.	0.445392	0.15752	U	0.246351	T	0.35451	0.0932	M	0.77406	2.37	0.09310	N	0.999992	.	.	.	.	.	.	T	0.24728	-1.0152	7	0.87932	D	0	.	.	.	.	.	.	.	.	T	376	ENSP00000419945:A376T	ENSP00000419945:A376T	A	-	1	0	ERVW-1	91936506	0.686000	0.27661	0.464000	0.27143	0.466000	0.32739	0.145000	0.16157	0.132000	0.18615	0.134000	0.15878	GCA	ERVW-1	-	pfam_TLV/ENV_coat_polyprotein	ENSG00000242950		0.438	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVW-1	HGNC	protein_coding	OTTHUMT00000254009.2	87	0.00	0	C	NM_014590		92098570	92098570	-1	no_errors	ENST00000493463	ensembl	human	known	69_37n	missense	45	40.00	30	SNP	0.501	T
ESRRB	2103	genome.wustl.edu	37	14	76964794	76964794	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:76964794A>G	ENST00000509242.1	+	8	1393	c.1295A>G	c.(1294-1296)aAg>aGg	p.K432R	ESRRB_ENST00000261532.7_Splice_Site_p.K432R|ESRRB_ENST00000556177.1_Missense_Mutation_p.K432R|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000380887.2_Splice_Site_p.K432R	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	432					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGGAGGCCAAGGTGTGATGG	0.607																																						dbGAP											0													25.0	26.0	26.0					14																	76964794		2201	4298	6499	-	-	-	SO:0001630	splice_region_variant	0			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1296+1A>G	14.37:g.76964794A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.K432R	ENST00000509242.1	37	c.1295	CCDS9850.2	14	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282463	0.80692	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.24	5.24	0.73138	.	0.099447	0.64402	D	0.000002	T	0.41811	0.1175	N	0.08118	0	0.80722	D	1	D;P	0.58970	0.984;0.779	P;B	0.55391	0.775;0.157	T	0.40553	-0.9557	10	0.28530	T	0.3	.	15.4533	0.75294	1.0:0.0:0.0:0.0	.	432;437	Q5F0P7;E7EWD9	.;.	R	437;432;432;432;432	ENSP00000424992:K437R;ENSP00000422488:K432R;ENSP00000451658:K432R;ENSP00000370270:K432R;ENSP00000261532:K432R	ENSP00000261532:K432R	K	+	2	0	ESRRB	76034547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.274000	0.95731	2.110000	0.64415	0.459000	0.35465	AAG	ESRRB	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000119715		0.607	ESRRB-003	KNOWN	basic|CCDS	protein_coding	ESRRB	HGNC	protein_coding	OTTHUMT00000360663.1	23	0.00	0	A		Missense_Mutation	76964794	76964794	+1	no_errors	ENST00000380887	ensembl	human	known	69_37n	missense	16	40.74	11	SNP	1.000	G
ETFB	2109	genome.wustl.edu	37	19	51850231	51850231	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:51850231G>A	ENST00000309244.4	-	5	611	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.R265C	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	174					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		AGCTTCAGGCGCAGGGTCTCC	0.657																																						dbGAP											0													58.0	36.0	43.0					19																	51850231		2203	4300	6503	-	-	-	SO:0001583	missense	0			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.520C>T	19.37:g.51850231G>A	ENSP00000311930:p.Arg174Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.R265C	ENST00000309244.4	37	c.793	CCDS12828.1	19	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747149	0.69418	.	.	ENSG00000105379	ENST00000309244;ENST00000354232	D;D	0.87729	-2.29;-2.29	5.26	5.26	0.73747	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);Electron transfer flavoprotein, beta-subunit, conserved site (1);	0.189824	0.47455	D	0.000234	D	0.91023	0.7176	M	0.61703	1.905	0.54753	D	0.999982	D;D	0.89917	0.999;1.0	P;D	0.66979	0.868;0.948	D	0.91003	0.4844	10	0.56958	D	0.05	.	11.4557	0.50181	0.0:0.0:0.8201:0.1799	.	174;265	P38117;P38117-2	ETFB_HUMAN;.	C	174;265	ENSP00000311930:R174C;ENSP00000346173:R265C	ENSP00000311930:R174C	R	-	1	0	ETFB	56542043	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.830000	0.55768	2.456000	0.83038	0.561000	0.74099	CGC	ETFB	-	pfam_ETF_a/b_N,smart_ETF_a/b_N	ENSG00000105379		0.657	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	12	0.00	0	G			51850231	51850231	-1	no_errors	ENST00000354232	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	1.000	A
EVI2B	2124	genome.wustl.edu	37	17	29631507	29631507	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:29631507G>T	ENST00000330927.4	-	2	1275	c.1121C>A	c.(1120-1122)cCt>cAt	p.P374H	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.P389H|EVI2B_ENST00000577894.1_Missense_Mutation_p.P374H	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	374						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CAGAGATGGAGGGAGACTAGT	0.443																																						dbGAP											11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											130.0	116.0	120.0					17																	29631507		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.1121C>A	17.37:g.29631507G>T	ENSP00000333779:p.Pro374His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4A7	Missense_Mutation	SNP	NULL	p.P389H	ENST00000330927.4	37	c.1166	CCDS11266.1	17	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663268	0.29515	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.51574	0.71;0.7	5.64	1.31	0.21738	.	0.625434	0.13969	N	0.350303	T	0.47655	0.1457	L	0.32530	0.975	0.09310	N	0.999999	D;D	0.65815	0.995;0.995	P;P	0.60415	0.874;0.874	T	0.30966	-0.9960	10	0.62326	D	0.03	-0.6306	5.0822	0.14663	0.1712:0.0:0.3208:0.508	.	389;374	B7Z4A7;P34910	.;EVI2B_HUMAN	H	374;389	ENSP00000333779:P374H;ENSP00000439738:P389H	ENSP00000333779:P374H	P	-	2	0	EVI2B	26655633	0.002000	0.14202	0.058000	0.19502	0.748000	0.42578	0.191000	0.17076	0.006000	0.14734	0.655000	0.94253	CCT	EVI2B	-	NULL	ENSG00000185862		0.443	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI2B	HGNC	protein_coding	OTTHUMT00000256349.2	375	0.00	0	G	NM_006495		29631507	29631507	-1	no_errors	ENST00000544462	ensembl	human	known	69_37n	missense	274	39.25	177	SNP	0.057	T
EXOC3	11336	genome.wustl.edu	37	5	454017	454017	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:454017G>A	ENST00000512944.1	+	4	1086	c.897G>A	c.(895-897)caG>caA	p.Q299Q	EXOC3_ENST00000315013.5_Silent_p.Q299Q	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	310					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGATGGTTCAGTGCTTTCCTC	0.507																																						dbGAP											0													68.0	68.0	68.0					5																	454017		2041	4197	6238	-	-	-	SO:0001819	synonymous_variant	0			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.897G>A	5.37:g.454017G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	pfam_Sec6	p.S169N	ENST00000512944.1	37	c.506	CCDS54830.1	5																																																																																			EXOC3	-	pfam_Sec6	ENSG00000180104		0.507	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	72	0.00	0	G	NM_007277		454017	454017	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000503889	ensembl	human	known	69_37n	missense	43	46.25	37	SNP	1.000	A
EXOC8	149371	genome.wustl.edu	37	1	231473410	231473410	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:231473410C>T	ENST00000360394.2	-	1	168	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000366645.1_Missense_Mutation_p.V24M	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	28					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCTGCTTCACGTACAGCCGC	0.682																																						dbGAP											0													31.0	33.0	33.0					1																	231473410		2194	4287	6481	-	-	-	SO:0001583	missense	0			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.82G>A	1.37:g.231473410C>T	ENSP00000353564:p.Val28Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V28M	ENST00000360394.2	37	c.82	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950092	0.73787	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	D;D	0.83837	-1.77;-1.77	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92329	0.5872	10	0.87932	D	0	-29.7924	19.2109	0.93755	0.0:1.0:0.0:0.0	.	28	Q8IYI6	EXOC8_HUMAN	M	28;24	ENSP00000353564:V28M;ENSP00000355605:V24M	ENSP00000353564:V28M	V	-	1	0	EXOC8	229540033	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	7.318000	0.79029	2.775000	0.95449	0.650000	0.86243	GTG	EXOC8	-	pfam_Vps51	ENSG00000116903		0.682	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		19	0.00	0	C	NM_175876		231473410	231473410	-1	no_errors	ENST00000360394	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	T
EXTL3	2137	genome.wustl.edu	37	8	28595121	28595121	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:28595121A>G	ENST00000220562.4	+	5	3264	c.2362A>G	c.(2362-2364)Aac>Gac	p.N788D	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.N404D	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	788					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CTGGCTCTACAACTCCAACTA	0.532																																						dbGAP											0													187.0	153.0	165.0					8																	28595121		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2362A>G	8.37:g.28595121A>G	ENSP00000220562:p.Asn788Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.N788D	ENST00000220562.4	37	c.2362	CCDS6070.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.03|16.03	3.006700|3.006700	0.54361|0.54361	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000523149;ENST00000220562;ENST00000521532;ENST00000517738|ENST00000521473	D;D;D;D|.	0.85702|.	-2.02;-2.02;-2.02;-2.02|.	4.94|4.94	3.79|3.79	0.43588|0.43588	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57125|0.57125	0.2032|0.2032	L|L	0.47078|0.47078	1.49|1.49	0.80722|0.80722	D|D	1|1	P|.	0.46621|.	0.881|.	P|.	0.48089|.	0.566|.	T|T	0.52283|0.52283	-0.8596|-0.8596	10|5	0.59425|.	D|.	0.04|.	-30.7604|-30.7604	10.4256|10.4256	0.44375|0.44375	0.9237:0.0:0.0763:0.0|0.9237:0.0:0.0763:0.0	.|.	788|.	O43909|.	EXTL3_HUMAN|.	D|R	404;788;86;34|121	ENSP00000428691:N404D;ENSP00000220562:N788D;ENSP00000431013:N86D;ENSP00000430652:N34D|.	ENSP00000220562:N788D|.	N|Q	+|+	1|2	0|0	EXTL3|EXTL3	28651040|28651040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.047000|9.047000	0.93823|0.93823	0.929000|0.929000	0.37192|0.37192	0.528000|0.528000	0.53228|0.53228	AAC|CAA	EXTL3	-	pfam_HexNAc_Trfase_a	ENSG00000012232		0.532	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	366	0.00	0	A	NM_001440		28595121	28595121	+1	no_errors	ENST00000220562	ensembl	human	known	69_37n	missense	192	43.53	148	SNP	1.000	G
EYA1	2138	genome.wustl.edu	37	8	72127863	72127863	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:72127863C>T	ENST00000340726.3	-	15	2100	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S	EYA1_ENST00000388740.3_Silent_p.S454S|EYA1_ENST00000303824.7_Silent_p.S481S|EYA1_ENST00000388741.2_Silent_p.S453S|EYA1_ENST00000388743.2_Silent_p.S486S|EYA1_ENST00000388742.4_Silent_p.S487S|EYA1_ENST00000419131.1_Silent_p.S452S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	487			S -> P (in BOR1). {ECO:0000269|PubMed:9361030}.		anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGTGAATGAGCGAGAGTGCTT	0.527																																						dbGAP											0													80.0	80.0	80.0					8																	72127863		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1461G>A	8.37:g.72127863C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.S487	ENST00000340726.3	37	c.1461	CCDS34906.1	8																																																																																			EYA1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000104313		0.527	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	128	0.77	1	C	NM_000503, NM_172060		72127863	72127863	-1	no_errors	ENST00000340726	ensembl	human	known	69_37n	silent	47	48.35	44	SNP	0.008	T
FAAH2	158584	genome.wustl.edu	37	X	57337164	57337164	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:57337164T>C	ENST00000374900.4	+	3	532		c.e3+2			NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2							integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGCTACAAGGTACTATTCTTT	0.373										HNSCC(52;0.14)																												dbGAP											0													58.0	52.0	54.0					X																	57337164		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.412+2T>C	X.37:g.57337164T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VT2|Q96N98	Splice_Site	SNP	-	e3+2	ENST00000374900.4	37	c.412+2	CCDS14375.1	X	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895889	0.33442	.	.	ENSG00000165591	ENST00000374900	.	.	.	1.81	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2076	0.15299	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAAH2	57353889	0.971000	0.33674	0.738000	0.30950	0.880000	0.50808	1.982000	0.40638	0.736000	0.32559	0.339000	0.21740	.	FAAH2	-	-	ENSG00000165591		0.373	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	124	0.00	0	T	NM_174912	Intron	57337164	57337164	+1	no_errors	ENST00000374900	ensembl	human	known	69_37n	splice_site	78	46.21	67	SNP	0.736	C
FAM102B	284611	genome.wustl.edu	37	1	109177741	109177741	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:109177741G>T	ENST00000370035.3	+	11	1392	c.1052G>T	c.(1051-1053)gGa>gTa	p.G351V	FAM102B_ENST00000405454.1_Intron	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	351										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GTGGGGTCTGGAGCTTATGAA	0.408																																						dbGAP											0													165.0	161.0	163.0					1																	109177741		2203	4300	6503	-	-	-	SO:0001583	missense	0			CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.1052G>T	1.37:g.109177741G>T	ENSP00000359052:p.Gly351Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	pfam_NT-C2	p.G351V	ENST00000370035.3	37	c.1052	CCDS30786.2	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048290	0.93740	.	.	ENSG00000162636	ENST00000370035	.	.	.	5.97	5.97	0.96955	.	0.051243	0.85682	D	0.000000	T	0.68531	0.3011	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70714	-0.4796	9	0.87932	D	0	-12.7646	20.4135	0.99023	0.0:0.0:1.0:0.0	.	351	Q5T8I3	F102B_HUMAN	V	351	.	ENSP00000359052:G351V	G	+	2	0	FAM102B	108979264	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.398000	0.97281	2.835000	0.97688	0.591000	0.81541	GGA	FAM102B	-	NULL	ENSG00000162636		0.408	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102B	HGNC	protein_coding	OTTHUMT00000030188.3	170	0.00	0	G	NM_001010883		109177741	109177741	+1	no_errors	ENST00000370035	ensembl	human	known	69_37n	missense	83	40.29	56	SNP	1.000	T
FAM131B	9715	genome.wustl.edu	37	7	143056090	143056090	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:143056090A>G	ENST00000409408.1	-	4	1920	c.212T>C	c.(211-213)gTg>gCg	p.V71A	FAM131B_ENST00000409222.3_Missense_Mutation_p.V71A|FAM131B_ENST00000409578.1_Missense_Mutation_p.V87A|FAM131B_ENST00000409346.1_Missense_Mutation_p.V71A|FAM131B_ENST00000443739.2_Missense_Mutation_p.V99A			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	71										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGGCTTTGTCACATGGTCCTT	0.567																																						dbGAP											0													83.0	62.0	69.0					7																	143056090		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.212T>C	7.37:g.143056090A>G	ENSP00000387017:p.Val71Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	NULL	p.V99A	ENST00000409408.1	37	c.296	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836042	0.71373	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.69823	2.125	0.80722	D	1	D;P	0.61697	0.99;0.925	D;B	0.73380	0.98;0.352	T	0.68036	-0.5515	10	0.87932	D	0	-37.7606	14.8004	0.69909	1.0:0.0:0.0:0.0	.	87;71	Q86XD5-2;Q86XD5	.;F131B_HUMAN	A	99;87;71;75;71;71	ENSP00000410603:V99A;ENSP00000386568:V87A;ENSP00000386984:V71A;ENSP00000387017:V71A;ENSP00000387147:V71A	ENSP00000387147:V71A	V	-	2	0	FAM131B	142766212	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	8.954000	0.93051	1.893000	0.54813	0.459000	0.35465	GTG	FAM131B	-	NULL	ENSG00000159784		0.567	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	HGNC	protein_coding	OTTHUMT00000328057.1	24	0.00	0	A	NM_014690		143056090	143056090	-1	no_errors	ENST00000443739	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	1.000	G
FAM135B	51059	genome.wustl.edu	37	8	139164906	139164906	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:139164906G>T	ENST00000395297.1	-	13	1982	c.1812C>A	c.(1810-1812)gcC>gcA	p.A604A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	604										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGAAGAGATGGCATTTTGGT	0.453										HNSCC(54;0.14)																												dbGAP											0													179.0	171.0	173.0					8																	139164906		1907	4131	6038	-	-	-	SO:0001819	synonymous_variant	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1812C>A	8.37:g.139164906G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.A604	ENST00000395297.1	37	c.1812	CCDS6375.2	8																																																																																			FAM135B	-	NULL	ENSG00000147724		0.453	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	317	0.00	0	G	NM_015912		139164906	139164906	-1	no_errors	ENST00000395297	ensembl	human	known	69_37n	silent	164	40.79	113	SNP	0.006	T
FAM13C	220965	genome.wustl.edu	37	10	61083827	61083827	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:61083827C>T	ENST00000373868.2	-	4	451	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	FAM13C_ENST00000442566.3_Missense_Mutation_p.V122M|FAM13C_ENST00000468840.2_Missense_Mutation_p.V39M|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000419214.2_Missense_Mutation_p.V122M|FAM13C_ENST00000422313.2_Missense_Mutation_p.V122M|FAM13C_ENST00000435852.2_Missense_Mutation_p.V122M|FAM13C_ENST00000373867.3_Missense_Mutation_p.V39M|FAM13C_ENST00000277705.6_Missense_Mutation_p.V122M	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	122										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTGCTCTCACCTGACACTCT	0.468																																						dbGAP											0													377.0	329.0	345.0					10																	61083827		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.364G>A	10.37:g.61083827C>T	ENSP00000362975:p.Val122Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.V122M	ENST00000373868.2	37	c.364	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732929	0.30684	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.44881	0.93;0.93;0.93;0.93;0.91;0.92	6.01	4.17	0.49024	.	0.606571	0.15604	N	0.253762	T	0.28797	0.0714	N	0.22421	0.69	0.21256	N	0.999741	B;P;P;P;B	0.39696	0.373;0.683;0.683;0.456;0.373	B;B;B;B;B	0.37346	0.224;0.224;0.224;0.247;0.13	T	0.09250	-1.0683	10	0.54805	T	0.06	-4.6644	9.0788	0.36538	0.0:0.8332:0.0:0.1668	.	122;39;122;122;122	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	M	39;122;122;122;122;39;122;122	ENSP00000362975:V122M;ENSP00000395661:V122M;ENSP00000277705:V122M;ENSP00000391993:V122M;ENSP00000392302:V122M;ENSP00000400241:V122M	ENSP00000277705:V122M	V	-	1	0	FAM13C	60753833	0.924000	0.31332	0.519000	0.27824	0.361000	0.29550	1.645000	0.37238	0.884000	0.36064	0.650000	0.86243	GTG	FAM13C	-	NULL	ENSG00000148541		0.468	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	608	0.00	0	C			61083827	61083827	-1	no_errors	ENST00000373868	ensembl	human	known	69_37n	missense	388	40.06	260	SNP	0.975	T
FAM151A	338094	genome.wustl.edu	37	1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:55081757delG	ENST00000302250.2	-	3	511	c.351delC	c.(349-351)cccfs	p.P117fs	FAM151A_ENST00000371304.2_Frame_Shift_Del_p.P117fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	117						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGTAGATAGTGGGGGGGTGTG	0.592																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)											108.0	86.0	93.0					1																	55081757		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.351delC	1.37:g.55081757delG	ENSP00000306888:p.Pro117fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Del	DEL	pfam_DUF2181	p.T118fs	ENST00000302250.2	37	c.351	CCDS594.1	1																																																																																			FAM151A	-	pfam_DUF2181	ENSG00000162391		0.592	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	130	0.00	0	G	NM_176782		55081757	55081757	-1	no_errors	ENST00000302250	ensembl	human	known	69_37n	frame_shift_del	162	30.64	72	DEL	0.037	-
FAM188B	84182	genome.wustl.edu	37	7	30831164	30831164	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:30831164G>A	ENST00000265299.6	+	5	1124	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	349										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTCAAACGGCAGGGCAGCC	0.547																																						dbGAP											0													36.0	45.0	42.0					7																	30831164		2020	4195	6215	-	-	-	SO:0001819	synonymous_variant	0			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1047G>A	7.37:g.30831164G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q71AZ7|Q9H6D2	Silent	SNP	NULL	p.R349	ENST00000265299.6	37	c.1047	CCDS43565.1	7																																																																																			FAM188B	-	NULL	ENSG00000106125		0.547	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	69	0.00	0	G	NM_032222		30831164	30831164	+1	no_errors	ENST00000265299	ensembl	human	known	69_37n	silent	31	36.73	18	SNP	0.822	A
FAM189B	10712	genome.wustl.edu	37	1	155224455	155224455	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:155224455C>T	ENST00000361361.2	-	1	723	c.214G>A	c.(214-216)Gct>Act	p.A72T	FAM189B_ENST00000368368.3_Missense_Mutation_p.A72T|FAM189B_ENST00000350210.2_Missense_Mutation_p.A72T|SCAMP3_ENST00000472397.1_5'Flank|FAM189B_ENST00000472550.1_5'UTR	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	72						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGAACCCAGCCCAAGACGGG	0.632																																						dbGAP											0													106.0	82.0	90.0					1																	155224455		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.214G>A	1.37:g.155224455C>T	ENSP00000354958:p.Ala72Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	pfam_CD20-like	p.A72T	ENST00000361361.2	37	c.214	CCDS1103.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361070	0.82353	.	.	ENSG00000160767	ENST00000350210;ENST00000333966;ENST00000368368;ENST00000361361;ENST00000491082	T;T;T;T	0.21191	2.02;4.2;4.2;4.2	4.36	4.36	0.52297	.	0.162008	0.40064	N	0.001185	T	0.21468	0.0517	M	0.67397	2.05	0.45150	D	0.998169	P;B;P;P	0.39157	0.662;0.262;0.59;0.495	P;B;B;B	0.45195	0.473;0.207;0.201;0.391	T	0.02104	-1.1213	10	0.59425	D	0.04	.	14.7416	0.69461	0.0:1.0:0.0:0.0	.	72;72;72;72	D6RD59;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	T	72	ENSP00000307128:A72T;ENSP00000357352:A72T;ENSP00000354958:A72T;ENSP00000427011:A72T	ENSP00000333944:A72T	A	-	1	0	FAM189B	153491079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.610000	0.46325	2.404000	0.81709	0.655000	0.94253	GCT	FAM189B	-	pfam_CD20-like	ENSG00000160767		0.632	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189B	HGNC	protein_coding	OTTHUMT00000087224.1	43	0.00	0	C	NM_006589		155224455	155224455	-1	no_errors	ENST00000361361	ensembl	human	known	69_37n	missense	51	27.14	19	SNP	1.000	T
BRINP3	339479	genome.wustl.edu	37	1	190067103	190067103	+	3'UTR	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:190067103T>C	ENST00000367462.3	-	0	2577				BRINP3_ENST00000534846.1_3'UTR	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											ACAAAAGCACTGTAAAAACTC	0.318																																						dbGAP											0													94.0	95.0	94.0					1																	190067103		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.*45A>G	1.37:g.190067103T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP1|B7Z260|O95726|Q2M330	RNA	SNP	-	NULL	ENST00000367462.3	37	NULL	CCDS1373.1	1																																																																																			FAM5C	-	-	ENSG00000162670		0.318	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	264	0.00	0	T	NM_199051		190067103	190067103	-1	no_errors	ENST00000484105	ensembl	human	known	69_37n	rna	159	34.57	84	SNP	1.000	C
FAM71B	153745	genome.wustl.edu	37	5	156589956	156589956	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:156589956A>G	ENST00000302938.4	-	2	1415	c.1320T>C	c.(1318-1320)agT>agC	p.S440S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	440						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACTTTTCCTACTGGGATGTC	0.507																																						dbGAP											0													159.0	151.0	154.0					5																	156589956		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1320T>C	5.37:g.156589956A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	pfam_DUF3699	p.S440	ENST00000302938.4	37	c.1320	CCDS4335.1	5																																																																																			FAM71B	-	NULL	ENSG00000170613		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	159	0.00	0	A	NM_130899		156589956	156589956	-1	no_errors	ENST00000302938	ensembl	human	known	69_37n	silent	105	45.92	90	SNP	0.000	G
SPATA31A6	389730	genome.wustl.edu	37	9	43625140	43625140	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:43625140C>T	ENST00000332857.6	-	4	3575	c.3547G>A	c.(3547-3549)Gct>Act	p.A1183T	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1183					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGCTCTCAGCAGTGACTGGT	0.423																																						dbGAP											0													15.0	22.0	20.0					9																	43625140		610	1529	2139	-	-	-	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3547G>A	9.37:g.43625140C>T	ENSP00000329825:p.Ala1183Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.A1183T	ENST00000332857.6	37	c.3547	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176834	0.38413	.	.	ENSG00000185775	ENST00000332857	T	0.04275	3.66	2.44	2.44	0.29823	.	0.736452	0.11680	N	0.539911	T	0.09686	0.0238	L	0.54323	1.7	0.09310	N	1	P	0.44877	0.845	P	0.50617	0.646	T	0.19976	-1.0289	10	0.33940	T	0.23	-2.1928	8.6491	0.34025	0.0:1.0:0.0:0.0	.	1183	Q5VVP1	F75A6_HUMAN	T	1183	ENSP00000329825:A1183T	ENSP00000329825:A1183T	A	-	1	0	FAM75A6	43565136	0.000000	0.05858	0.022000	0.16811	0.022000	0.10575	-0.972000	0.03802	1.704000	0.51252	0.383000	0.25322	GCT	FAM75A6	-	NULL	ENSG00000185775		0.423	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A6	HGNC	protein_coding	OTTHUMT00000036987.1	182	0.00	0	C	NM_001145196		43625140	43625140	-1	no_errors	ENST00000332857	ensembl	human	known	69_37n	missense	37	77.58	128	SNP	0.025	T
SPATA31D1	389763	genome.wustl.edu	37	9	84605885	84605885	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:84605885A>G	ENST00000344803.2	+	4	547	c.500A>G	c.(499-501)gAg>gGg	p.E167G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	167					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTGCGACTGAGTCATCGTTC	0.557																																						dbGAP											0													122.0	122.0	122.0					9																	84605885		2007	4171	6178	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.500A>G	9.37:g.84605885A>G	ENSP00000341988:p.Glu167Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E167G	ENST00000344803.2	37	c.500	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554920	0.45487	.	.	ENSG00000214929	ENST00000344803	T	0.07444	3.19	3.03	1.87	0.25490	.	1.391060	0.05235	N	0.511109	T	0.09069	0.0224	L	0.49350	1.555	0.09310	N	1	B	0.28713	0.22	B	0.22880	0.042	T	0.35847	-0.9772	10	0.45353	T	0.12	-2.4044	4.8601	0.13579	0.8531:0.0:0.1469:0.0	.	167	Q6ZQQ2	F75D1_HUMAN	G	167	ENSP00000341988:E167G	ENSP00000341988:E167G	E	+	2	0	FAM75D1	83795705	0.018000	0.18449	0.001000	0.08648	0.001000	0.01503	1.365000	0.34182	0.577000	0.29470	0.487000	0.48397	GAG	FAM75D1	-	NULL	ENSG00000214929		0.557	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	324	0.31	1	A	NM_001001670		84605885	84605885	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	274	41.58	195	SNP	0.001	G
RMDN2	151393	genome.wustl.edu	37	2	38178783	38178783	+	Intron	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:38178783delT	ENST00000406384.1	+	2	646				RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000407257.1_Frame_Shift_Del_p.I142fs	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAGAGTGCCATTTTTTTTGAT	0.333																																						dbGAP											0													67.0	73.0	71.0					2																	38178783		2195	4296	6491	-	-	-	SO:0001627	intron_variant	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+21911T>-	2.37:g.38178783delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Frame_Shift_Del	DEL	NULL	p.F144fs	ENST00000406384.1	37	c.425	CCDS54351.1	2																																																																																			FAM82A1	-	NULL	ENSG00000115841		0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM82A1	HGNC	protein_coding	OTTHUMT00000325577.1	344	0.29	1	T	NM_144713		38178783	38178783	+1	no_errors	ENST00000234195	ensembl	human	known	69_37n	frame_shift_del	203	38.10	128	DEL	0.000	-
FAM83F	113828	genome.wustl.edu	37	22	40415274	40415274	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:40415274G>A	ENST00000333407.6	+	2	686	c.592G>A	c.(592-594)Gag>Aag	p.E198K	FAM83F_ENST00000473717.1_Missense_Mutation_p.E30K	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	198										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CATCCTGGACGAGGCAGGAGT	0.527																																						dbGAP											0													176.0	135.0	149.0					22																	40415274		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.592G>A	22.37:g.40415274G>A	ENSP00000330432:p.Glu198Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FD6	Missense_Mutation	SNP	pfam_DUF1669	p.E198K	ENST00000333407.6	37	c.592	CCDS14000.2	22	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602279	0.87055	.	.	ENSG00000133477	ENST00000333407	T	0.12039	2.72	4.94	3.93	0.45458	.	0.283907	0.35378	N	0.003260	T	0.15478	0.0373	M	0.64080	1.96	0.45962	D	0.998782	B	0.29886	0.26	B	0.19946	0.027	T	0.03193	-1.1062	10	0.51188	T	0.08	-27.3455	13.4731	0.61292	0.0754:0.0:0.9246:0.0	.	198	Q8NEG4	FA83F_HUMAN	K	198	ENSP00000330432:E198K	ENSP00000330432:E198K	E	+	1	0	FAM83F	38745220	1.000000	0.71417	0.976000	0.42696	0.963000	0.63663	4.859000	0.62954	1.306000	0.44926	0.561000	0.74099	GAG	FAM83F	-	pfam_DUF1669	ENSG00000133477		0.527	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83F	HGNC	protein_coding	OTTHUMT00000319624.3	74	0.00	0	G	NM_138435		40415274	40415274	+1	no_errors	ENST00000333407	ensembl	human	known	69_37n	missense	42	35.38	23	SNP	1.000	A
FAM83G	644815	genome.wustl.edu	37	17	18882158	18882158	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:18882158G>A	ENST00000388995.6	-	5	1044	c.821C>T	c.(820-822)aCg>aTg	p.T274M	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.T274M|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.T274M|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	274					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCCGACCACGTGAAGCTGCA	0.647																																						dbGAP											0													30.0	34.0	33.0					17																	18882158		2132	4222	6354	-	-	-	SO:0001583	missense	0			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.821C>T	17.37:g.18882158G>A	ENSP00000373647:p.Thr274Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.T274M	ENST00000388995.6	37	c.821	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878573	0.72294	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.25250	1.81;1.81	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.18777	-1.0326	10	0.42905	T	0.14	-23.2208	18.7781	0.91920	0.0:0.0:1.0:0.0	.	274	A6ND36	FA83G_HUMAN	M	274	ENSP00000373647:T274M;ENSP00000343279:T274M	ENSP00000343279:T274M	T	-	2	0	FAM83G	18822883	1.000000	0.71417	0.991000	0.47740	0.270000	0.26580	9.869000	0.99810	2.434000	0.82447	0.561000	0.74099	ACG	FAM83G	-	pfam_DUF1669	ENSG00000188522		0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	8	0.00	0	G			18882158	18882158	-1	no_errors	ENST00000345041	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	1.000	A
FAM9C	171484	genome.wustl.edu	37	X	13061329	13061329	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:13061329G>A	ENST00000333995.3	-	3	230	c.100C>T	c.(100-102)Cct>Tct	p.P34S	FAM9C_ENST00000542843.1_Missense_Mutation_p.P34S|FAM9C_ENST00000380625.3_Missense_Mutation_p.P34S			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	34						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCTGTAACAGGTTTTCTTTCC	0.403																																						dbGAP											0													166.0	127.0	140.0					X																	13061329		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.100C>T	X.37:g.13061329G>A	ENSP00000334430:p.Pro34Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9G7|Q5HYJ6	Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.P34S	ENST00000333995.3	37	c.100	CCDS35203.1	X	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445918	0.25987	.	.	ENSG00000187268	ENST00000542843;ENST00000380625;ENST00000333995	T;T;T	0.26957	1.7;1.7;1.7	0.674	0.674	0.17946	.	.	.	.	.	T	0.28034	0.0691	L	0.27053	0.805	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.17198	-1.0377	8	0.32370	T	0.25	.	.	.	.	.	34	Q8IZT9	FAM9C_HUMAN	S	34	ENSP00000439185:P34S;ENSP00000369999:P34S;ENSP00000334430:P34S	ENSP00000334430:P34S	P	-	1	0	FAM9C	12971250	0.793000	0.28825	0.001000	0.08648	0.011000	0.07611	0.813000	0.27225	0.604000	0.29930	0.181000	0.17075	CCT	FAM9C	-	NULL	ENSG00000187268		0.403	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	FAM9C	HGNC	protein_coding	OTTHUMT00000316476.1	388	0.00	0	G	NM_174901		13061329	13061329	-1	no_errors	ENST00000333995	ensembl	human	known	69_37n	missense	187	38.89	119	SNP	0.001	A
FANCD2	2177	genome.wustl.edu	37	3	10130560	10130560	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:10130560T>C	ENST00000419585.1	+	36	3770	c.3609T>C	c.(3607-3609)atT>atC	p.I1203I	FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000287647.3_Silent_p.I1203I|FANCD2_ENST00000383807.1_Silent_p.I1203I|FANCD2_ENST00000383806.1_Silent_p.I1203I			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1203					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TAGAGGAGATTGCTGGTGTTG	0.438			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													232.0	210.0	218.0					3																	10130560		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3609T>C	3.37:g.10130560T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	NULL	p.L703S	ENST00000419585.1	37	c.2108	CCDS33696.1	3																																																																																			FANCD2	-	NULL	ENSG00000144554		0.438	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	135	0.00	0	T			10130560	10130560	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000421731	ensembl	human	known	69_37n	missense	108	46.00	92	SNP	0.839	C
FARSA	2193	genome.wustl.edu	37	19	13041102	13041103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:13041102_13041103insC	ENST00000314606.4	-	4	455_456	c.437_438insG	c.(436-438)ggafs	p.G146fs	FARSA_ENST00000423140.2_Frame_Shift_Ins_p.G146fs|FARSA_ENST00000588025.1_Frame_Shift_Ins_p.G186fs|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	146					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCTCAGCCTGTCCCCCCCGGAC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.438dupG	19.37:g.13041109_13041109dupC	ENSP00000320309:p.Gly146fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E363|Q9NSD8|Q9Y4W8	Frame_Shift_Ins	INS	pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu	p.Q147fs	ENST00000314606.4	37	c.438_437	CCDS12287.1	19																																																																																			FARSA	-	NULL	ENSG00000179115		0.653	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	HGNC	protein_coding	OTTHUMT00000451935.1	53	0.00	0	-	NM_004461		13041102	13041103	-1	no_errors	ENST00000314606	ensembl	human	known	69_37n	frame_shift_ins	73	21.51	20	INS	0.431:0.999	C
FAT1	2195	genome.wustl.edu	37	4	187630578	187630578	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:187630578A>G	ENST00000441802.2	-	2	613	c.404T>C	c.(403-405)gTc>gCc	p.V135A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	135	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGCACCCTGACCTTTGTTCG	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													156.0	163.0	161.0					4																	187630578		2099	4232	6331	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.404T>C	4.37:g.187630578A>G	ENSP00000406229:p.Val135Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.V135A	ENST00000441802.2	37	c.404	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775572	0.70107	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.69435	-0.4;-0.4	5.1	3.92	0.45320	Cadherin (3);Cadherin-like (1);	0.188133	0.46758	N	0.000265	T	0.68696	0.3029	M	0.83312	2.635	0.52099	D	0.999943	P	0.42078	0.77	B	0.40982	0.345	T	0.72424	-0.4298	10	0.87932	D	0	.	10.4544	0.44542	0.9224:0.0:0.0776:0.0	.	135	Q14517	FAT1_HUMAN	A	135	ENSP00000406229:V135A;ENSP00000423736:V135A	ENSP00000260147:V135A	V	-	2	0	FAT1	187867572	1.000000	0.71417	0.949000	0.38748	0.938000	0.57974	9.139000	0.94554	0.964000	0.38108	0.482000	0.46254	GTC	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	225	0.87	2	A	NM_005245		187630578	187630578	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	117	43.27	90	SNP	0.997	G
FAT3	120114	genome.wustl.edu	37	11	92523114	92523114	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:92523114T>C	ENST00000298047.6	+	7	4358	c.4341T>C	c.(4339-4341)ttT>ttC	p.F1447F	FAT3_ENST00000409404.2_Silent_p.F1447F|FAT3_ENST00000525166.1_Silent_p.F1297F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1447	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAGGTATTTATCAAAGTGC	0.428										TCGA Ovarian(4;0.039)																												dbGAP											0													65.0	63.0	64.0					11																	92523114		1860	4108	5968	-	-	-	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4341T>C	11.37:g.92523114T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.F1447	ENST00000298047.6	37	c.4341		11																																																																																			FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.428	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		342	0.00	0	T	NM_001008781		92523114	92523114	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	silent	172	38.79	109	SNP	0.991	C
FAT3	120114	genome.wustl.edu	37	11	92614028	92614028	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:92614028A>G	ENST00000298047.6	+	22	12276	c.12259A>G	c.(12259-12261)Aaa>Gaa	p.K4087E	FAT3_ENST00000409404.2_Missense_Mutation_p.K4087E|FAT3_ENST00000533797.1_Missense_Mutation_p.K422E|FAT3_ENST00000525166.1_Missense_Mutation_p.K3937E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4087	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCAATTGTAAAGCTGGGCT	0.443										TCGA Ovarian(4;0.039)																												dbGAP											0													204.0	202.0	203.0					11																	92614028		1904	4126	6030	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12259A>G	11.37:g.92614028A>G	ENSP00000298047:p.Lys4087Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.K4087E	ENST00000298047.6	37	c.12259		11	.	.	.	.	.	.	.	.	.	.	A	9.152	1.016406	0.19355	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	6.16	4.98	0.66077	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.81128	0.4758	L	0.33189	0.99	0.80722	D	1	B;B	0.28055	0.199;0.007	B;B	0.30572	0.117;0.007	T	0.76984	-0.2756	9	0.27082	T	0.32	.	13.2493	0.60041	0.8678:0.1322:0.0:0.0	.	4087;4087	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	E	4087;4087;3937;422	ENSP00000298047:K4087E;ENSP00000387040:K4087E;ENSP00000432586:K3937E;ENSP00000436399:K422E	ENSP00000298047:K4087E	K	+	1	0	FAT3	92253676	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	3.821000	0.55700	2.367000	0.80283	0.528000	0.53228	AAA	FAT3	-	smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000165323		0.443	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		319	0.00	0	A	NM_001008781		92614028	92614028	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	185	38.94	118	SNP	0.961	G
FAT4	79633	genome.wustl.edu	37	4	126241181	126241181	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:126241181T>C	ENST00000394329.3	+	1	3628	c.3615T>C	c.(3613-3615)gaT>gaC	p.D1205D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1205	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATATAAATGATAATGCTCCCA	0.403																																						dbGAP											0													59.0	57.0	58.0					4																	126241181		1858	4101	5959	-	-	-	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3615T>C	4.37:g.126241181T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D1205	ENST00000394329.3	37	c.3615	CCDS3732.3	4																																																																																			FAT4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	189	0.00	0	T	NM_024582		126241181	126241181	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	silent	70	44.53	57	SNP	0.993	C
FBL	2091	genome.wustl.edu	37	19	40325426	40325426	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:40325426C>T	ENST00000221801.3	-	8	936	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	DYRK1B_ENST00000597639.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000601972.1_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000430012.2_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	275	Helical. {ECO:0000255}.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		ACGGCCTCGGCTGAGGCTGTG	0.498																																						dbGAP											0													76.0	68.0	70.0					19																	40325426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.823G>A	19.37:g.40325426C>T	ENSP00000221801:p.Ala275Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.A275T	ENST00000221801.3	37	c.823	CCDS12545.1	19	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148750	0.78001	.	.	ENSG00000105202	ENST00000221801	D	0.83755	-1.76	5.91	4.85	0.62838	.	0.050712	0.85682	D	0.000000	D	0.84284	0.5438	M	0.79693	2.465	0.49299	D	0.999779	B;P	0.34837	0.085;0.472	B;B	0.38562	0.123;0.276	D	0.85483	0.1180	10	0.66056	D	0.02	-20.9486	12.203	0.54337	0.0:0.7038:0.2962:0.0	.	214;275	Q96BS4;P22087	.;FBRL_HUMAN	T	275	ENSP00000221801:A275T	ENSP00000221801:A275T	A	-	1	0	FBL	45017266	1.000000	0.71417	0.683000	0.30040	0.904000	0.53231	6.388000	0.73195	2.793000	0.96121	0.655000	0.94253	GCC	FBL	-	pfam_Fibrillarin,pirsf_Fibrillarin	ENSG00000105202		0.498	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBL	HGNC	protein_coding	OTTHUMT00000462509.4	94	0.00	0	C	NM_001436		40325426	40325426	-1	no_errors	ENST00000221801	ensembl	human	known	69_37n	missense	45	42.31	33	SNP	0.998	T
FBN1	2200	genome.wustl.edu	37	15	48719959	48719959	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:48719959C>A	ENST00000316623.5	-	58	7464	c.7009G>T	c.(7009-7011)Ggg>Tgg	p.G2337W		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2337	TB 9.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAGCAGTACCCTTCCCGATTG	0.443																																						dbGAP											0													98.0	84.0	89.0					15																	48719959		2198	4296	6494	-	-	-	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7009G>T	15.37:g.48719959C>A	ENSP00000325527:p.Gly2337Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.G2337W	ENST00000316623.5	37	c.7009	CCDS32232.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.93|19.93	3.917262|3.917262	0.73098|0.73098	.|.	.|.	ENSG00000166147|ENSG00000166147	ENST00000316623|ENST00000389087	D|.	0.92048|.	-2.96|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Matrix fibril-associated (2);TGF-beta binding (1);|.	0.050472|.	0.85682|.	D|.	0.000000|.	D|D	0.84853|0.84853	0.5564|0.5564	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.83999|0.83999	0.0342|0.0342	10|6	0.72032|0.25106	D|T	0.01|0.35	.|.	19.231|19.231	0.93841|0.93841	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2337|.	P35555|.	FBN1_HUMAN|.	W|N	2337|925	ENSP00000325527:G2337W|.	ENSP00000325527:G2337W|ENSP00000373739:K925N	G|K	-|-	1|3	0|2	FBN1|FBN1	46507251|46507251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.776000|7.776000	0.85560|0.85560	2.720000|2.720000	0.93068|0.93068	0.650000|0.650000	0.86243|0.86243	GGG|AAG	FBN1	-	superfamily_TB_dom,pirsf_Fibrillin	ENSG00000166147		0.443	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	77	0.00	0	C			48719959	48719959	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	missense	61	40.20	41	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127863564	127863564	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:127863564C>T	ENST00000508053.1	-	10	1507		c.e10+1		FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGTCCCTTACGTTGTCCACA	0.373																																						dbGAP											0													80.0	73.0	76.0					5																	127863564		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.532+1G>A	5.37:g.127863564C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU01|Q59ES6	Splice_Site	SNP	-	e4+1	ENST00000508053.1	37	c.532+1	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010450	0.54361	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2124	0.82170	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127891463	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	7.313000	0.78978	2.562000	0.86427	0.655000	0.94253	.	FBN2	-	-	ENSG00000138829		0.373	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	73	0.00	0	C	NM_001999	Intron	127863564	127863564	-1	no_errors	ENST00000262464	ensembl	human	known	69_37n	splice_site	43	59.05	62	SNP	1.000	T
FBXL18	80028	genome.wustl.edu	37	7	5541110	5541110	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:5541110C>T	ENST00000382368.3	-	3	913	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	FBXL18_ENST00000453700.3_Missense_Mutation_p.A264T	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	264									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		ATGAGGAAGGCGTGGAGGTTC	0.652																																						dbGAP											0													41.0	48.0	46.0					7																	5541110		2127	4225	6352	-	-	-	SO:0001583	missense	0			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.790G>A	7.37:g.5541110C>T	ENSP00000371805:p.Ala264Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.A264T	ENST00000382368.3	37	c.790	CCDS43546.1	7	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183657	0.78677	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.51817	0.73;0.69	5.54	5.54	0.83059	.	0.218482	0.47093	D	0.000243	T	0.29223	0.0727	N	0.19112	0.55	0.43814	D	0.996375	P;P	0.43314	0.803;0.803	B;B	0.28849	0.095;0.095	T	0.10917	-1.0609	10	0.19147	T	0.46	.	18.4757	0.90791	0.0:1.0:0.0:0.0	.	264;264	F5H4Z4;Q96ME1-4	.;.	T	264	ENSP00000371805:A264T;ENSP00000444797:A264T	ENSP00000311990:A264T	A	-	1	0	FBXL18	5507636	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	4.892000	0.63193	2.615000	0.88500	0.655000	0.94253	GCC	FBXL18	-	NULL	ENSG00000155034		0.652	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	HGNC	protein_coding	OTTHUMT00000324093.1	13	0.00	0	C	NM_024963		5541110	5541110	-1	no_errors	ENST00000453700	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	1.000	T
FBXL19	54620	genome.wustl.edu	37	16	30958079	30958079	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:30958079G>A	ENST00000380310.2	+	10	1874	c.1716G>A	c.(1714-1716)caG>caA	p.Q572Q	ORAI3_ENST00000562699.1_5'Flank|ORAI3_ENST00000318663.4_5'Flank|AC135048.13_ENST00000566056.1_RNA|FBXL19_ENST00000565690.1_Silent_p.Q436Q|ORAI3_ENST00000566237.1_5'Flank|FBXL19_ENST00000562319.1_Silent_p.Q552Q|FBXL19_ENST00000471231.2_Silent_p.Q260Q|FBXL19_ENST00000338343.4_Silent_p.Q552Q	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	572					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GTCGGCTGCAGGGGGTGGCAG	0.657																																						dbGAP											0													27.0	35.0	32.0					16																	30958079		2089	4217	6306	-	-	-	SO:0001819	synonymous_variant	0			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1716G>A	16.37:g.30958079G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	NULL	p.R64K	ENST00000380310.2	37	c.191	CCDS45465.1	16	.	.	.	.	.	.	.	.	.	.	G	3.583	-0.085189	0.07097	.	.	ENSG00000099364	ENST00000427128	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	T	0.64023	0.2561	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62927	-0.6750	4	.	.	.	-14.8903	12.4703	0.55783	0.0:0.1691:0.8308:0.0	.	.	.	.	R	464	.	.	G	+	1	0	FBXL19	30865580	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.019000	0.30014	2.203000	0.70933	0.561000	0.74099	GGG	FBXL19	-	NULL	ENSG00000099364		0.657	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19	HGNC	protein_coding		10	0.00	0	G	NM_019085		30958079	30958079	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000566320	ensembl	human	putative	69_37n	missense	13	31.58	6	SNP	1.000	A
FBXO21	23014	genome.wustl.edu	37	12	117624319	117624320	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:117624319_117624320insA	ENST00000330622.5	-	3	431_432	c.432_433insT	c.(430-435)tttgagfs	p.E145fs	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Frame_Shift_Ins_p.E145fs			O94952	FBX21_HUMAN	F-box protein 21	145					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.F144fs*9(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		AGTTCATCCTCAAAAAAAATCT	0.371																																					GBM(168;452 2038 13535 17701 43680)	dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.433dupT	12.37:g.117624327_117624327dupA	ENSP00000328187:p.Glu145fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMF0|Q5BJG0|Q9H087	Frame_Shift_Ins	INS	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom	p.E144fs	ENST00000330622.5	37	c.433_432	CCDS9184.1	12																																																																																			FBXO21	-	superfamily_F-box_dom_cyclin-like	ENSG00000135108		0.371	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	115	0.86	1	-	NM_033624		117624319	117624320	-1	no_errors	ENST00000330622	ensembl	human	known	69_37n	frame_shift_ins	21	72.37	55	INS	1.000:1.000	A
FBXO27	126433	genome.wustl.edu	37	19	39516186	39516186	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:39516186G>A	ENST00000292853.4	-	6	836	c.717C>T	c.(715-717)caC>caT	p.H239H	FBXO27_ENST00000509137.2_Silent_p.H239H|FBXO27_ENST00000600828.1_Silent_p.H238H	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	239	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGGAGAACACGTGGGTGACCT	0.572																																						dbGAP											0													54.0	46.0	49.0					19																	39516186		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.717C>T	19.37:g.39516186G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96C87	Silent	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom	p.H239	ENST00000292853.4	37	c.717	CCDS12527.1	19																																																																																			FBXO27	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000161243		0.572	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO27	HGNC	protein_coding	OTTHUMT00000463281.1	40	0.00	0	G			39516186	39516186	-1	no_errors	ENST00000292853	ensembl	human	known	69_37n	silent	30	48.28	28	SNP	0.774	A
FBXO31	79791	genome.wustl.edu	37	16	87369782	87369782	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:87369782A>G	ENST00000311635.7	-	6	833	c.821T>C	c.(820-822)tTc>tCc	p.F274S	RP11-178L8.4_ENST00000568879.1_5'Flank	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	274					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGTGTAGATGAACTTCATCAG	0.602																																						dbGAP											0													200.0	144.0	163.0					16																	87369782		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.821T>C	16.37:g.87369782A>G	ENSP00000310841:p.Phe274Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F274S	ENST00000311635.7	37	c.821	CCDS32501.1	16	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682925	0.68157	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.69591	-0.5104	9	0.72032	D	0.01	-8.0414	14.3129	0.66429	1.0:0.0:0.0:0.0	.	274;166	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	S	274	.	ENSP00000310841:F274S	F	-	2	0	FBXO31	85927283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.030000	0.93725	1.854000	0.53819	0.459000	0.35465	TTC	FBXO31	-	NULL	ENSG00000103264		0.602	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	36	0.00	0	A	NM_024735		87369782	87369782	-1	no_errors	ENST00000311635	ensembl	human	known	69_37n	missense	3	82.35	14	SNP	1.000	G
FBXO33	254170	genome.wustl.edu	37	14	39870683	39870683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:39870683G>A	ENST00000298097.7	-	3	1430	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	365					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GTGCTCTTTCGTGACAGGGCT	0.418																																						dbGAP											0													92.0	88.0	89.0					14																	39870683		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.1093C>T	14.37:g.39870683G>A	ENSP00000298097:p.Arg365*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIR2|Q86TR2|Q86YE0	Nonsense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R365*	ENST00000298097.7	37	c.1093	CCDS9677.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.674913	0.97755	.	.	ENSG00000165355	ENST00000298097	.	.	.	5.87	1.81	0.25067	.	0.119808	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8316	11.292	0.49256	0.0:0.1128:0.3884:0.4988	.	.	.	.	X	365	.	.	R	-	1	2	FBXO33	38940434	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	0.960000	0.29253	0.052000	0.16007	0.591000	0.81541	CGA	FBXO33	-	NULL	ENSG00000165355		0.418	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO33	HGNC	protein_coding	OTTHUMT00000276769.2	226	0.00	0	G			39870683	39870683	-1	no_errors	ENST00000298097	ensembl	human	known	69_37n	nonsense	108	37.21	64	SNP	0.998	A
FBXO42	54455	genome.wustl.edu	37	1	16577863	16577863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:16577863G>A	ENST00000375592.3	-	10	1672	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	486										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AGTGATCCTCGTCGGGGGGCC	0.478																																						dbGAP											0													57.0	60.0	59.0					1																	16577863		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1456C>T	1.37:g.16577863G>A	ENSP00000364742:p.Arg486*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Nonsense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R486*	ENST00000375592.3	37	c.1456	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.951615	0.97139	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	.	.	.	5.51	2.51	0.30379	.	0.322829	0.30142	N	0.010319	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-8.5261	13.8142	0.63281	0.0:0.0:0.4662:0.5338	.	.	.	.	X	486;204;204	.	ENSP00000364742:R486X	R	-	1	2	FBXO42	16450450	0.998000	0.40836	0.639000	0.29394	0.871000	0.50021	2.500000	0.45381	0.342000	0.23796	-0.188000	0.12872	CGA	FBXO42	-	NULL	ENSG00000037637		0.478	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	73	0.00	0	G			16577863	16577863	-1	no_errors	ENST00000375592	ensembl	human	known	69_37n	nonsense	61	45.54	51	SNP	0.901	A
FBXO5	26271	genome.wustl.edu	37	6	153292164	153292164	+	3'UTR	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:153292164delG	ENST00000229758.3	-	0	1536				FBXO5_ENST00000367241.3_3'UTR|FBXO5_ENST00000477822.1_5'UTR	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TTTATCTTCTGGGGGGAAAAA	0.239																																					NSCLC(121;372 1757 17721 17977 29669)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.*134C>-	6.37:g.153292164delG		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	RNA	DEL	-	NULL	ENST00000229758.3	37	NULL	CCDS5242.1	6																																																																																			FBXO5	-	-	ENSG00000112029		0.239	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO5	HGNC	protein_coding	OTTHUMT00000042757.1	34	0.00	0	G			153292164	153292164	-1	no_errors	ENST00000477822	ensembl	human	known	69_37n	rna	27	22.22	8	DEL	0.000	-
FCGBP	8857	genome.wustl.edu	37	19	40368715	40368715	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:40368715G>A	ENST00000221347.6	-	28	12640	c.12633C>T	c.(12631-12633)ggC>ggT	p.G4211G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4211	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCACACTGCGCCATGATAGC	0.597																																						dbGAP											0													258.0	259.0	259.0					19																	40368715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12633C>T	19.37:g.40368715G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G4211	ENST00000221347.6	37	c.12633	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	381	0.00	0	G	NM_003890		40368715	40368715	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	400	15.07	71	SNP	0.000	A
FCHSD1	89848	genome.wustl.edu	37	5	141019316	141019316	+	3'UTR	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:141019316G>T	ENST00000435817.2	-	0	3872				RELL2_ENST00000521367.1_Intron|FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000297164.3_Intron|RELL2_ENST00000518025.1_Intron|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000444782.1_Intron|RELL2_ENST00000518856.1_Intron	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1										FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGACTGGGAGCTCCGGC	0.607																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.*1749C>A	5.37:g.141019316G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX75|Q86Y77|Q9NXX8	RNA	SNP	-	NULL	ENST00000435817.2	37	NULL	CCDS47295.1	5																																																																																			FCHSD1	-	-	ENSG00000197948		0.607	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	41	0.00	0	G	NM_033449		141019316	141019316	-1	no_errors	ENST00000520465	ensembl	human	known	69_37n	rna	29	23.68	9	SNP	0.004	T
FCRL2	79368	genome.wustl.edu	37	1	157740395	157740395	+	Silent	SNP	G	G	A	rs139205435		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:157740395G>A	ENST00000361516.3	-	3	162	c.114C>T	c.(112-114)tgC>tgT	p.C38C	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000392274.3_Silent_p.C38C|FCRL2_ENST00000368181.4_Silent_p.C38C	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	38	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTCTCCCTGGCATTTCAGAA	0.438																																						dbGAP											0													57.0	58.0	58.0					1																	157740395		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.114C>T	1.37:g.157740395G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.C38	ENST00000361516.3	37	c.114	CCDS1168.1	1																																																																																			FCRL2	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000132704		0.438	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	117	0.00	0	G	NM_030764		157740395	157740395	-1	no_errors	ENST00000361516	ensembl	human	known	69_37n	silent	93	32.61	45	SNP	0.000	A
FDFT1	2222	genome.wustl.edu	37	8	11679295	11679298	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CAAA	CAAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:11679295_11679298delCAAA	ENST00000220584.4	+	4	640_643	c.418_421delCAAA	c.(418-423)caaacafs	p.QT140fs	FDFT1_ENST00000525777.1_Frame_Shift_Del_p.QT55fs|FDFT1_ENST00000443614.2_Intron|FDFT1_ENST00000528643.1_Frame_Shift_Del_p.QT55fs|FDFT1_ENST00000525900.1_Frame_Shift_Del_p.QT133fs|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528812.1_Frame_Shift_Del_p.QT76fs|FDFT1_ENST00000538689.1_Frame_Shift_Del_p.QT29fs|FDFT1_ENST00000530664.1_Frame_Shift_Del_p.QT76fs	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	140					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TGAGAAATACCAAACAGTGATTGC	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.418_421delCAAA	8.37:g.11679295_11679298delCAAA	ENSP00000220584:p.Gln140fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Frame_Shift_Del	DEL	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.T141fs	ENST00000220584.4	37	c.418_421	CCDS5985.1	8																																																																																			FDFT1	-	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	ENSG00000079459		0.426	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2	189	0.00	0	CAAA			11679295	11679298	+1	no_errors	ENST00000220584	ensembl	human	known	69_37n	frame_shift_del	101	37.58	62	DEL	1.000:1.000:0.999:0.999	-
FDPS	2224	genome.wustl.edu	37	1	155289611	155289611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:155289611delC	ENST00000356657.6	+	10	1113	c.951delC	c.(949-951)gacfs	p.D317fs	RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000368356.4_Frame_Shift_Del_p.D317fs|FDPS_ENST00000447866.1_Frame_Shift_Del_p.D251fs|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	317					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TCTTTGGGGACCCCAGTGTGA	0.572																																						dbGAP											0													119.0	118.0	118.0					1																	155289611		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.951delC	1.37:g.155289611delC	ENSP00000349078:p.Asp317fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV91|E9PCI9|Q96G29	Frame_Shift_Del	DEL	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.S319fs	ENST00000356657.6	37	c.951	CCDS1110.1	1																																																																																			FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000160752		0.572	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	369	0.00	0	C	NM_002004		155289611	155289611	+1	no_errors	ENST00000356657	ensembl	human	known	69_37n	frame_shift_del	452	24.60	152	DEL	1.000	-
FES	2242	genome.wustl.edu	37	15	91437040	91437040	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:91437040C>T	ENST00000328850.3	+	17	2344	c.2202C>T	c.(2200-2202)taC>taT	p.Y734Y	FES_ENST00000444422.2_Splice_Site_p.Y664Y|FES_ENST00000450438.2_Splice_Site_p.Y606Y|FES_ENST00000414248.2_Splice_Site_p.Y606Y|FES_ENST00000394300.3_Splice_Site_p.Y676Y|FES_ENST00000394302.1_Splice_Site_p.Y593Y	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	734	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCTTAACTACGGTACCTAGT	0.652																																						dbGAP											0													55.0	62.0	60.0					15																	91437040		2198	4298	6496	-	-	-	SO:0001630	splice_region_variant	0			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2203+1C>T	15.37:g.91437040C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.Y734	ENST00000328850.3	37	c.2202	CCDS10365.1	15																																																																																			FES	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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	ENSG00000182511		0.652	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	HGNC	protein_coding	OTTHUMT00000313497.1	25	0.00	0	C	NM_002005	Silent	91437040	91437040	+1	no_errors	ENST00000328850	ensembl	human	known	69_37n	silent	15	42.31	11	SNP	0.026	T
FEZ1	9638	genome.wustl.edu	37	11	125315907	125315907	+	3'UTR	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:125315907G>T	ENST00000278919.3	-	0	1497				FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		ACATGTCGGAGGTTACATGGT	0.507																																					Melanoma(180;509 2033 10762 15939 24711)	dbGAP											0													93.0	81.0	85.0					11																	125315907		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.*84C>A	11.37:g.125315907G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00679|O00728|Q6IBI7	RNA	SNP	-	NULL	ENST00000278919.3	37	NULL	CCDS31716.1	11																																																																																			FEZ1	-	-	ENSG00000149557		0.507	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1	75	0.00	0	G	NM_005103		125315907	125315907	-1	no_errors	ENST00000526507	ensembl	human	known	69_37n	rna	35	51.39	37	SNP	1.000	T
FGF12	2257	genome.wustl.edu	37	3	192053164	192053164	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:192053164A>G	ENST00000454309.2	-	3	1225	c.400T>C	c.(400-402)Tat>Cat	p.Y134H	FGF12_ENST00000450716.1_Missense_Mutation_p.Y72H|FGF12_ENST00000445105.2_Missense_Mutation_p.Y72H|FGF12_ENST00000430714.1_Missense_Mutation_p.Y35H|FGF12_ENST00000264730.3_Missense_Mutation_p.Y72H	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	134					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CTGTAGAGATAGCCTTCACCA	0.468																																						dbGAP											0													107.0	90.0	96.0					3																	192053164		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.400T>C	3.37:g.192053164A>G	ENSP00000413496:p.Tyr134His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd	p.Y134H	ENST00000454309.2	37	c.400	CCDS3301.1	3	.	.	.	.	.	.	.	.	.	.	A	8.253	0.809382	0.16537	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000430714;ENST00000448795;ENST00000418610	D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.51	5.51	0.81932	.	0.419299	0.26539	N	0.023803	T	0.71600	0.3359	L	0.36672	1.1	0.31394	N	0.677432	B;B	0.02656	0.0;0.0	B;B	0.11329	0.002;0.006	T	0.66937	-0.5797	10	0.18276	T	0.48	.	13.5845	0.61921	1.0:0.0:0.0:0.0	.	72;134	P61328-2;P61328	.;FGF12_HUMAN	H	72;72;72;134;72;35;48;72	ENSP00000264730:Y72H;ENSP00000393686:Y72H;ENSP00000413496:Y134H;ENSP00000397635:Y72H;ENSP00000410125:Y35H;ENSP00000412904:Y48H;ENSP00000395517:Y72H	ENSP00000264730:Y72H	Y	-	1	0	FGF12	193535858	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.029000	0.49712	2.080000	0.62538	0.533000	0.62120	TAT	FGF12	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd	ENSG00000114279		0.468	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF12	HGNC	protein_coding	OTTHUMT00000343160.1	230	0.00	0	A	NM_021032		192053164	192053164	-1	no_errors	ENST00000454309	ensembl	human	known	69_37n	missense	150	36.44	86	SNP	1.000	G
FGF21	26291	genome.wustl.edu	37	19	49259588	49259588	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:49259588C>T	ENST00000593756.1	+	2	667	c.95C>T	c.(94-96)cCt>cTt	p.P32L	FUT1_ENST00000310160.3_5'Flank|FUT1_ENST00000601931.1_5'Flank|FGF21_ENST00000222157.3_Missense_Mutation_p.P32L			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	32					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CACCCCATCCCTGACTCCAGT	0.612																																						dbGAP											0													61.0	48.0	52.0					19																	49259588		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.95C>T	19.37:g.49259588C>T	ENSP00000471477:p.Pro32Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N683	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,pirsf_Fibroblast_GF_15/19/21,prints_GF_heparin-bd,prints_IL1_HBGF	p.P32L	ENST00000593756.1	37	c.95	CCDS12734.1	19	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844075	0.51164	.	.	ENSG00000105550	ENST00000222157	D	0.82433	-1.61	4.77	2.62	0.31277	.	0.221139	0.36815	N	0.002400	T	0.67683	0.2919	L	0.27053	0.805	0.53688	D	0.999978	P	0.40476	0.718	B	0.35550	0.205	T	0.65413	-0.6174	10	0.62326	D	0.03	-12.9343	5.9478	0.19229	0.1885:0.7146:0.0:0.0968	.	32	Q9NSA1	FGF21_HUMAN	L	32	ENSP00000222157:P32L	ENSP00000222157:P32L	P	+	2	0	FGF21	53951400	0.346000	0.24844	0.983000	0.44433	0.961000	0.63080	0.485000	0.22324	0.728000	0.32382	0.561000	0.74099	CCT	FGF21	-	superfamily_Cytokine_IL1-like,pirsf_Fibroblast_GF_15/19/21	ENSG00000105550		0.612	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF21	HGNC	protein_coding	OTTHUMT00000466200.1	22	0.00	0	C			49259588	49259588	+1	no_errors	ENST00000222157	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.996	T
FHDC1	85462	genome.wustl.edu	37	4	153896935	153896935	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:153896935A>G	ENST00000511601.1	+	12	2680	c.2492A>G	c.(2491-2493)gAg>gGg	p.E831G	FHDC1_ENST00000260008.3_Missense_Mutation_p.E831G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	831									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCCCCTGGGGAGGCTCCTGCC	0.617																																						dbGAP											0													59.0	73.0	68.0					4																	153896935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2492A>G	4.37:g.153896935A>G	ENSP00000427567:p.Glu831Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.E831G	ENST00000511601.1	37	c.2492	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	A	0.765	-0.767736	0.02974	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.37915	1.17;1.17	5.17	1.15	0.20763	.	2.639620	0.00977	N	0.003322	T	0.24967	0.0606	L	0.29908	0.895	0.09310	N	1	B	0.19200	0.034	B	0.14023	0.01	T	0.07214	-1.0784	10	0.20046	T	0.44	.	2.1002	0.03678	0.5622:0.1252:0.1914:0.1211	rs35458244	831	Q9C0D6	FHDC1_HUMAN	G	831	ENSP00000427567:E831G;ENSP00000260008:E831G	ENSP00000260008:E831G	E	+	2	0	FHDC1	154116385	0.991000	0.36638	0.009000	0.14445	0.008000	0.06430	1.753000	0.38359	-0.021000	0.14009	0.460000	0.39030	GAG	FHDC1	-	NULL	ENSG00000137460		0.617	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	58	0.00	0	A	NM_033393		153896935	153896935	+1	no_errors	ENST00000260008	ensembl	human	known	69_37n	missense	28	48.15	26	SNP	0.135	G
FITM2	128486	genome.wustl.edu	37	20	42935516	42935516	+	Nonsense_Mutation	SNP	G	G	A	rs368232104		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:42935516G>A	ENST00000396825.3	-	2	558	c.538C>T	c.(538-540)Cga>Tga	p.R180*		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	180					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						CAGTGGCTTCGGTCCGTCTTC	0.527																																						dbGAP											0													98.0	77.0	85.0					20																	42935516		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.538C>T	20.37:g.42935516G>A	ENSP00000380037:p.Arg180*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Nonsense_Mutation	SNP	pfam_FIT	p.R180*	ENST00000396825.3	37	c.538	CCDS33473.1	20	.	.	.	.	.	.	.	.	.	.	G	18.97	3.734944	0.69189	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.42	3.24	0.37175	.	0.148862	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.1559	9.3148	0.37928	0.073:0.0:0.5806:0.3465	.	.	.	.	X	180	.	ENSP00000380037:R180X	R	-	1	2	FITM2	42368930	0.399000	0.25287	0.801000	0.32222	0.721000	0.41392	1.983000	0.40648	1.246000	0.43901	0.563000	0.77884	CGA	FITM2	-	pfam_FIT	ENSG00000197296		0.527	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM2	HGNC	protein_coding	OTTHUMT00000079342.2	61	0.00	0	G	XM_371399		42935516	42935516	-1	no_errors	ENST00000396825	ensembl	human	known	69_37n	nonsense	36	38.98	23	SNP	0.010	A
FLG	2312	genome.wustl.edu	37	1	152278792	152278792	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:152278792C>T	ENST00000368799.1	-	3	8605	c.8570G>A	c.(8569-8571)cGt>cAt	p.R2857H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2857	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.572									Ichthyosis																													dbGAP											0													355.0	546.0	483.0					1																	152278792		2138	4300	6438	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8570G>A	1.37:g.152278792C>T	ENSP00000357789:p.Arg2857His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R2857H	ENST00000368799.1	37	c.8570	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	5.201	0.222657	0.09863	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.02369	4.32	2.76	-1.29	0.09288	.	.	.	.	.	T	0.00580	0.0019	N	0.20328	0.56	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.42965	-0.9420	9	0.24483	T	0.36	.	6.1201	0.20148	0.0:0.5425:0.0:0.4575	.	2857	P20930	FILA_HUMAN	H	2857;119	ENSP00000357789:R2857H	ENSP00000357786:R119H	R	-	2	0	FLG	150545416	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.018000	0.03626	-0.725000	0.04901	-0.683000	0.03753	CGT	FLG	-	pfam_Filaggrin	ENSG00000143631		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	685	0.29	2	C	NM_002016		152278792	152278792	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	803	16.30	157	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152279358	152279358	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:152279358T>C	ENST00000368799.1	-	3	8039	c.8004A>G	c.(8002-8004)tcA>tcG	p.S2668S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2668	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCAATGCCTGAGTGTCTGG	0.542									Ichthyosis																													dbGAP											0													4.0	5.0	5.0					1																	152279358		1063	2332	3395	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8004A>G	1.37:g.152279358T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S2668	ENST00000368799.1	37	c.8004	CCDS30860.1	1																																																																																			FLG	-	pfam_Filaggrin	ENSG00000143631		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	88	0.00	0	T	NM_002016		152279358	152279358	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	silent	76	19.15	18	SNP	0.000	C
FLG	2312	genome.wustl.edu	37	1	152286351	152286351	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:152286351C>T	ENST00000368799.1	-	3	1046	c.1011G>A	c.(1009-1011)agG>agA	p.R337R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	337	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATCATGGGACCTGGGGTGTC	0.562									Ichthyosis																													dbGAP											0													209.0	210.0	209.0					1																	152286351		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1011G>A	1.37:g.152286351C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R337	ENST00000368799.1	37	c.1011	CCDS30860.1	1																																																																																			FLG	-	NULL	ENSG00000143631		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	283	0.00	0	C	NM_002016		152286351	152286351	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	silent	305	21.94	86	SNP	0.000	T
RNA5SP414	100873665	genome.wustl.edu	37	16	34981076	34981077	+	lincRNA	INS	-	-	C	rs562767055|rs182652180	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:34981076_34981077insC	ENST00000516580.1	+	0	0				5S_rRNA_ENST00000516136.1_lincRNA|5S_rRNA_ENST00000516234.1_lincRNA|RNA5SP413_ENST00000516373.1_RNA|RNA5SP410_ENST00000516285.1_RNA																							CGATTCTGTGACCCCCCCGCCA	0.589													|||unknown(ALL_OTHER_Ns)	8	0.00159744	0.0	0.0043	5008	,	,		17657	0.0		0.003	False		,,,				2504	0.002					dbGAP											0																																										-	-	-			0																															16.37:g.34981083_34981083dupC		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000516580.1	37	NULL		16																																																																																			RP11-352B15.1	-	-	ENSG00000261122		0.589	5S_rRNA.6-203	KNOWN	basic	rRNA	FLJ26245	Clone_based_vega_gene	lincRNA		8	0.00	0	-			34981076	34981077	+1	no_errors	ENST00000566900	ensembl	human	known	69_37n	rna	6	50.00	6	INS	0.000:0.000	C
FLOT2	2319	genome.wustl.edu	37	17	27211314	27211314	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:27211314T>C	ENST00000394908.4	-	3	255	c.151A>G	c.(151-153)Acg>Gcg	p.T51A	FLOT2_ENST00000394906.2_Missense_Mutation_p.T106A|FLOT2_ENST00000577789.1_Intron|FLOT2_ENST00000585169.1_Intron	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	51					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GGCTGCAACGTCATAATCTCT	0.592																																						dbGAP											0													53.0	59.0	57.0					17																	27211314		2058	4180	6238	-	-	-	SO:0001583	missense	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.151A>G	17.37:g.27211314T>C	ENSP00000378368:p.Thr51Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.T51A	ENST00000394908.4	37	c.151	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	T	15.40	2.821277	0.50633	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.52754	0.65;0.65	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	M	0.90019	3.08	0.80722	D	1	D	0.58970	0.984	D	0.80764	0.994	T	0.80039	-0.1549	10	0.87932	D	0	-12.4114	14.0317	0.64619	0.0:0.0:0.0:1.0	.	51	Q14254	FLOT2_HUMAN	A	106;51	ENSP00000378366:T106A;ENSP00000378368:T51A	ENSP00000378366:T106A	T	-	1	0	FLOT2	24235440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.907000	0.55213	0.460000	0.39030	ACG	FLOT2	-	pfam_Band_7	ENSG00000132589		0.592	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	16	0.00	0	T	NM_004475		27211314	27211314	-1	no_errors	ENST00000394908	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	1.000	C
FMNL1	752	genome.wustl.edu	37	17	43318794	43318794	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:43318794C>A	ENST00000331495.3	+	14	1714	c.1378C>A	c.(1378-1380)Cca>Aca	p.P460T	FMNL1_ENST00000328118.3_Missense_Mutation_p.P460T|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.P38T|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	460	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.|Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CAGGCGTCCCCCAGAGCCTGA	0.677																																					GBM(164;1247 1997 8702 11086 51972)	dbGAP											0													7.0	6.0	7.0					17																	43318794		2119	4169	6288	-	-	-	SO:0001583	missense	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1378C>A	17.37:g.43318794C>A	ENSP00000329219:p.Pro460Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.P460T	ENST00000331495.3	37	c.1378	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	c	7.633	0.679306	0.14907	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.78364	-1.17;-1.17	4.14	3.15	0.36227	GTPase-binding/formin homology 3 (1);	0.657919	0.14759	N	0.300109	T	0.62901	0.2466	L	0.34521	1.04	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.44528	-0.9322	10	0.13470	T	0.59	.	7.4942	0.27479	0.0:0.8688:0.0:0.1312	.	460	O95466	FMNL_HUMAN	T	460;460;178	ENSP00000327442:P460T;ENSP00000329219:P460T	ENSP00000327442:P460T	P	+	1	0	FMNL1	40674577	0.062000	0.20869	0.019000	0.16419	0.196000	0.23810	1.099000	0.31013	0.820000	0.34516	0.401000	0.26515	CCA	FMNL1	-	NULL	ENSG00000184922		0.677	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	14	0.00	0	C	NM_005892		43318794	43318794	+1	no_errors	ENST00000328118	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	0.009	A
FMO2	2327	genome.wustl.edu	37	1	171168502	171168502	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:171168502G>T	ENST00000209929.7	+	5	660	c.502G>T	c.(502-504)Ggc>Tgc	p.G168C	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.G168C|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_Intron			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	168					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGGTTCAAAGGCCAATATTT	0.448																																						dbGAP											0													86.0	91.0	89.0					1																	171168502		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.502G>T	1.37:g.171168502G>T	ENSP00000209929:p.Gly168Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.G168C	ENST00000209929.7	37	c.502	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.139401	0.94560	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.69175	-0.38;-0.38	6.17	6.17	0.99709	.	0.045941	0.85682	D	0.000000	D	0.90553	0.7039	H	0.99746	4.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93881	0.7171	10	0.87932	D	0	-21.6135	19.6509	0.95805	0.0:0.0:1.0:0.0	.	168	Q99518	FMO2_HUMAN	C	168	ENSP00000209929:G168C;ENSP00000405905:G168C	ENSP00000209929:G168C	G	+	1	0	FMO2	169435126	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.727000	0.98787	2.941000	0.99782	0.655000	0.94253	GGC	FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000094963		0.448	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	174	0.00	0	G	NM_001460		171168502	171168502	+1	no_errors	ENST00000209929	ensembl	human	known	69_37n	missense	177	22.71	52	SNP	1.000	T
FMO1	2326	genome.wustl.edu	37	1	171249982	171249982	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:171249982T>C	ENST00000354841.4	+	5	816	c.685T>C	c.(685-687)Tac>Cac	p.Y229H	FMO1_ENST00000367750.3_Missense_Mutation_p.Y229H|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.Y166H	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	229					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGACTCGGGCTACCCATGGGA	0.488																																						dbGAP											0													111.0	95.0	101.0					1																	171249982		2203	4300	6503	-	-	-	SO:0001583	missense	0			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.685T>C	1.37:g.171249982T>C	ENSP00000346901:p.Tyr229His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.Y229H	ENST00000354841.4	37	c.685	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728578	0.48833	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.63744	-0.06;-0.06;-0.06	5.85	2.22	0.28083	.	0.556845	0.20231	N	0.096473	T	0.66177	0.2763	M	0.89287	3.02	0.22213	N	0.999289	D;B;D	0.89917	1.0;0.42;0.999	D;P;D	0.75484	0.986;0.669;0.979	T	0.57768	-0.7754	10	0.31617	T	0.26	.	6.1058	0.20073	0.2522:0.0694:0.0:0.6784	.	166;229;229	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	H	229;166;229	ENSP00000356724:Y229H;ENSP00000385543:Y166H;ENSP00000346901:Y229H	ENSP00000346901:Y229H	Y	+	1	0	FMO1	169516606	0.610000	0.26983	0.920000	0.36463	0.939000	0.58152	0.695000	0.25527	0.116000	0.18110	0.533000	0.62120	TAC	FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase	ENSG00000010932		0.488	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	100	0.00	0	T	NM_002021		171249982	171249982	+1	no_errors	ENST00000354841	ensembl	human	known	69_37n	missense	88	29.60	37	SNP	0.221	C
FN1	2335	genome.wustl.edu	37	2	216289885	216289885	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:216289885A>G	ENST00000359671.1	-	7	1233	c.968T>C	c.(967-969)cTg>cCg	p.L323P	FN1_ENST00000336916.4_Missense_Mutation_p.L323P|FN1_ENST00000345488.5_Missense_Mutation_p.L323P|FN1_ENST00000421182.1_Missense_Mutation_p.L323P|FN1_ENST00000443816.1_Missense_Mutation_p.L323P|FN1_ENST00000346544.3_Missense_Mutation_p.L323P|FN1_ENST00000357009.2_Missense_Mutation_p.L323P|FN1_ENST00000446046.1_Missense_Mutation_p.L323P|FN1_ENST00000432072.2_Missense_Mutation_p.L323P|FN1_ENST00000426059.1_Missense_Mutation_p.L323P|FN1_ENST00000356005.4_Missense_Mutation_p.L323P|FN1_ENST00000354785.4_Missense_Mutation_p.L323P|FN1_ENST00000323926.6_Missense_Mutation_p.L323P|FN1_ENST00000357867.4_Missense_Mutation_p.L323P			P02751	FINC_HUMAN	fibronectin 1	323	Collagen-binding.|Fibronectin type-I 6. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTGTGTCTTCAGCCACTGCAT	0.527																																						dbGAP											0													166.0	167.0	167.0					2																	216289885		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.968T>C	2.37:g.216289885A>G	ENSP00000352696:p.Leu323Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.L323P	ENST00000359671.1	37	c.968		2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794004	0.90453	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.83	5.83	0.93111	.	0.000000	0.52532	D	0.000066	T	0.62720	0.2451	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.993;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.925;0.999;0.953;0.968;0.974;0.985;0.979;0.995;0.974;0.974;0.999	T	0.65232	-0.6218	10	0.87932	D	0	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	323;323;323;323;323;323;323;323;323;323;323	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	P	323	ENSP00000394423:L323P;ENSP00000323534:L323P;ENSP00000338200:L323P;ENSP00000350534:L323P;ENSP00000346839:L323P;ENSP00000352696:L323P;ENSP00000265312:L323P;ENSP00000273049:L323P;ENSP00000349509:L323P;ENSP00000410422:L323P;ENSP00000415018:L323P;ENSP00000399538:L323P;ENSP00000348285:L323P;ENSP00000398907:L323P	ENSP00000265313:L323P	L	-	2	0	FN1	215998130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.710000	0.91388	2.231000	0.72958	0.460000	0.39030	CTG	FN1	-	pfam_Fibronectin_type1,smart_Fibronectin_type1	ENSG00000115414		0.527	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		240	0.00	0	A	NM_212476		216289885	216289885	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	missense	201	12.23	28	SNP	1.000	G
FNBP1L	54874	genome.wustl.edu	37	1	94009670	94009670	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:94009670G>A	ENST00000271234.7	+	12	1322	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	FNBP1L_ENST00000370253.2_Missense_Mutation_p.A333T|FNBP1L_ENST00000370256.4_Missense_Mutation_p.A386T|FNBP1L_ENST00000260506.8_Missense_Mutation_p.A333T|FNBP1L_ENST00000604705.1_Missense_Mutation_p.A391T	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	391	Interaction with CDC42.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TCAGGGCCCAGCACTAGAAGA	0.338																																						dbGAP											0													55.0	50.0	52.0					1																	94009670		1808	4076	5884	-	-	-	SO:0001583	missense	0				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.1171G>A	1.37:g.94009670G>A	ENSP00000271234:p.Ala391Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.A391T	ENST00000271234.7	37	c.1171	CCDS53343.1	1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525095	0.27299	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449;ENST00000541733	T;T;T	0.48201	2.29;2.29;0.82	4.71	4.71	0.59529	.	0.586744	0.16408	N	0.215722	T	0.16471	0.0396	N	0.14661	0.345	0.34026	D	0.653211	B;B;B	0.22080	0.064;0.002;0.0	B;B;B	0.15870	0.014;0.004;0.002	T	0.03829	-1.1000	10	0.13853	T	0.58	-15.359	18.0377	0.89309	0.0:0.0:1.0:0.0	.	211;333;333	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	T	386;391;333;386;200;83	ENSP00000359278:A386T;ENSP00000271234:A391T;ENSP00000260506:A333T	ENSP00000260506:A333T	A	+	1	0	FNBP1L	93782258	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.629000	0.67798	2.298000	0.77334	0.655000	0.94253	GCA	FNBP1L	-	superfamily_HR1_rho-bd	ENSG00000137942		0.338	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	FNBP1L	HGNC	protein_coding		118	0.00	0	G	NM_017737		94009670	94009670	+1	no_errors	ENST00000271234	ensembl	human	known	69_37n	missense	62	34.74	33	SNP	1.000	A
FNDC3A	22862	genome.wustl.edu	37	13	49580377	49580377	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:49580377T>C	ENST00000492622.2	+	2	356	c.51T>C	c.(49-51)gaT>gaC	p.D17D	FNDC3A_ENST00000541916.1_Silent_p.D17D	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	17					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TAAGTAGTGATATTTCTCTTT	0.328																																						dbGAP											0													159.0	146.0	150.0					13																	49580377		1857	4096	5953	-	-	-	SO:0001819	synonymous_variant	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.51T>C	13.37:g.49580377T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D17	ENST00000492622.2	37	c.51	CCDS41886.1	13																																																																																			FNDC3A	-	NULL	ENSG00000102531		0.328	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	269	0.37	1	T	NM_014923		49580377	49580377	+1	no_errors	ENST00000492622	ensembl	human	known	69_37n	silent	138	43.44	106	SNP	0.997	C
FNDC3A	22862	genome.wustl.edu	37	13	49765220	49765220	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:49765220G>T	ENST00000492622.2	+	18	2319	c.2014G>T	c.(2014-2016)Ggt>Tgt	p.G672C	FNDC3A_ENST00000398316.3_Missense_Mutation_p.G616C|FNDC3A_ENST00000541916.1_Missense_Mutation_p.G672C	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	672	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CAGATTACAGGGTAGACCCAA	0.393																																						dbGAP											0													75.0	86.0	83.0					13																	49765220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2014G>T	13.37:g.49765220G>T	ENSP00000417257:p.Gly672Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G672C	ENST00000492622.2	37	c.2014	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533974	0.85812	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.38887	1.12;1.12;1.11	5.42	5.42	0.78866	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.72779	0.3503	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.91635	0.948;0.999;0.999	T	0.77335	-0.2626	10	0.51188	T	0.08	-21.2522	18.5802	0.91168	0.0:0.0:1.0:0.0	.	616;672;672	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	C	672;608;672;616	ENSP00000417257:G672C;ENSP00000441831:G672C;ENSP00000381362:G616C	ENSP00000338579:G608C	G	+	1	0	FNDC3A	48663221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.145000	0.77365	2.689000	0.91719	0.655000	0.94253	GGT	FNDC3A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000102531		0.393	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	174	0.00	0	G	NM_014923		49765220	49765220	+1	no_errors	ENST00000492622	ensembl	human	known	69_37n	missense	104	34.59	55	SNP	1.000	T
FOCAD	54914	genome.wustl.edu	37	9	20929408	20929408	+	Missense_Mutation	SNP	G	G	A	rs552730221		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:20929408G>A	ENST00000380249.1	+	29	3494	c.3130G>A	c.(3130-3132)Gcc>Acc	p.A1044T	FOCAD_ENST00000338382.6_Missense_Mutation_p.A1044T|FOCAD_ENST00000605086.1_Missense_Mutation_p.A480T	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1044						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TTCTGCTGCCGCCACGGCTTT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		17082	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													81.0	74.0	76.0					9																	20929408		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3130G>A	9.37:g.20929408G>A	ENSP00000369599:p.Ala1044Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.A1044T	ENST00000380249.1	37	c.3130	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002859	0.93287	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.70399	-0.48;-0.48	6.16	6.16	0.99307	Armadillo-type fold (1);	0.100034	0.64402	D	0.000002	D	0.83248	0.5213	M	0.67953	2.075	0.58432	D	0.999998	D	0.76494	0.999	D	0.63793	0.918	T	0.82894	-0.0231	10	0.72032	D	0.01	-5.7061	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1044	Q5VW36	K1797_HUMAN	T	1044	ENSP00000369599:A1044T;ENSP00000344307:A1044T	ENSP00000344307:A1044T	A	+	1	0	KIAA1797	20919408	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.936000	0.75892	2.937000	0.99478	0.650000	0.86243	GCC	FOCAD	-	superfamily_ARM-type_fold	ENSG00000188352		0.473	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	196	0.00	0	G	NM_017794		20929408	20929408	+1	no_errors	ENST00000338382	ensembl	human	known	69_37n	missense	117	43.00	89	SNP	1.000	A
FOXJ3	22887	genome.wustl.edu	37	1	42654600	42654600	+	Splice_Site	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:42654600C>A	ENST00000372572.1	-	13	1765		c.e13-1		FOXJ3_ENST00000372573.1_Splice_Site|FOXJ3_ENST00000372571.1_De_novo_Start_OutOfFrame|FOXJ3_ENST00000361346.1_Splice_Site|FOXJ3_ENST00000361776.1_Splice_Site|FOXJ3_ENST00000545068.1_Splice_Site	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCATCAGACCTATGAGGAAA	0.363																																						dbGAP											0													46.0	45.0	46.0					1																	42654600		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1454-1G>T	1.37:g.42654600C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Splice_Site	SNP	-	e10-1	ENST00000372572.1	37	c.1454-1	CCDS30689.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143403	0.77888	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5644	0.87916	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOXJ3	42427187	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.680000	0.74518	2.744000	0.94065	0.655000	0.94253	.	FOXJ3	-	-	ENSG00000198815		0.363	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOXJ3	HGNC	protein_coding	OTTHUMT00000018310.1	101	0.00	0	C	NM_014947	Intron	42654600	42654600	-1	no_errors	ENST00000361346	ensembl	human	known	69_37n	splice_site	44	38.89	28	SNP	1.000	A
FOXN1	8456	genome.wustl.edu	37	17	26864250	26864250	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:26864250delC	ENST00000226247.2	+	8	1772	c.1743delC	c.(1741-1743)ttcfs	p.F581fs	FOXN1_ENST00000579795.1_Frame_Shift_Del_p.F581fs	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	581					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTCACTGCTTCCCCCCTGGGC	0.642																																						dbGAP											0													59.0	56.0	57.0					17																	26864250		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1743delC	17.37:g.26864250delC	ENSP00000226247:p.Phe581fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q7|O15352	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P583fs	ENST00000226247.2	37	c.1743	CCDS11232.1	17																																																																																			FOXN1	-	NULL	ENSG00000109101		0.642	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	64	0.00	0	C			26864250	26864250	+1	no_errors	ENST00000226247	ensembl	human	known	69_37n	frame_shift_del	45	40.26	31	DEL	1.000	-
FRAS1	80144	genome.wustl.edu	37	4	79321966	79321966	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:79321966A>T	ENST00000325942.6	+	30	4494	c.4054A>T	c.(4054-4056)Atc>Ttc	p.I1352F	FRAS1_ENST00000264895.6_Missense_Mutation_p.I1352F	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1352					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						CACCAACAGAATCTTACAGGC	0.463																																						dbGAP											0													75.0	78.0	77.0					4																	79321966		1923	4127	6050	-	-	-	SO:0001583	missense	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	ENST00000325942.6:c.4054A>T	4.37:g.79321966A>T	ENSP00000326330:p.Ile1352Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.I1352F	ENST00000325942.6	37	c.4054	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631982	0.67015	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.38887	1.11;1.11	5.45	5.45	0.79879	.	0.194537	0.45606	D	0.000344	T	0.44973	0.1319	M	0.65975	2.015	0.80722	D	1	P;D	0.56521	0.881;0.976	B;P	0.48840	0.325;0.592	T	0.38950	-0.9637	10	0.15499	T	0.54	.	10.0077	0.41968	0.8494:0.0:0.0:0.1506	.	1352;1352	E9PHH6;A2RRR8	.;.	F	1352	ENSP00000326330:I1352F;ENSP00000264895:I1352F	ENSP00000264895:I1352F	I	+	1	0	FRAS1	79540990	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.806000	0.47947	2.076000	0.62316	0.482000	0.46254	ATC	FRAS1	-	NULL	ENSG00000138759		0.463	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	81	0.00	0	A			79321966	79321966	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	49	30.99	22	SNP	1.000	T
FRMD6	122786	genome.wustl.edu	37	14	52187002	52187002	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:52187002C>T	ENST00000344768.5	+	11	1450	c.1254C>T	c.(1252-1254)caC>caT	p.H418H	FRMD6_ENST00000554167.1_Silent_p.H341H|FRMD6_ENST00000395718.2_Silent_p.H410H|FRMD6_ENST00000553556.1_Silent_p.H60H|FRMD6_ENST00000356218.4_Silent_p.H410H			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	418					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTGCCATCCACCGCAAGCTGA	0.622																																						dbGAP											0													59.0	57.0	57.0					14																	52187002		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1254C>T	14.37:g.52187002C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.H418	ENST00000344768.5	37	c.1254	CCDS58318.1	14																																																																																			FRMD6	-	NULL	ENSG00000139926		0.622	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	53	0.00	0	C	NM_152330		52187002	52187002	+1	no_errors	ENST00000344768	ensembl	human	known	69_37n	silent	36	41.94	26	SNP	1.000	T
FRMPD4	9758	genome.wustl.edu	37	X	12701631	12701631	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:12701631delA	ENST00000380682.1	+	6	1004	c.498delA	c.(496-498)gcafs	p.A166fs		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	166					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTAGTGCTGCAAAAAAGGCAA	0.388																																						dbGAP											0													114.0	88.0	97.0					X																	12701631		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.498delA	X.37:g.12701631delA	ENSP00000370057:p.Ala166fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Frame_Shift_Del	DEL	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.K168fs	ENST00000380682.1	37	c.498	CCDS35201.1	X																																																																																			FRMPD4	-	NULL	ENSG00000169933		0.388	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	150	0.00	0	A	XM_045712		12701631	12701631	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	frame_shift_del	77	41.48	56	DEL	0.875	-
FRMPD4	9758	genome.wustl.edu	37	X	12720093	12720093	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:12720093C>T	ENST00000380682.1	+	10	1540	c.1034C>T	c.(1033-1035)aCc>aTc	p.T345I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	345	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACCGTTACCACCAAGCAAACG	0.507											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													153.0	125.0	134.0					X																	12720093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1034C>T	X.37:g.12720093C>T	ENSP00000370057:p.Thr345Ile	Somatic	682	WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.T345I	ENST00000380682.1	37	c.1034	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	c	26.1	4.707843	0.89018	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.77750	-1.12	5.05	5.05	0.67936	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.86155	0.5865	L	0.56769	1.78	0.46927	D	0.99925	D;P	0.89917	1.0;0.719	D;B	0.87578	0.998;0.37	D	0.86471	0.1785	10	0.48119	T	0.1	.	17.6198	0.88077	0.0:1.0:0.0:0.0	.	337;345	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	I	345;336;334	ENSP00000370057:T345I	ENSP00000304583:T334I	T	+	2	0	FRMPD4	12630014	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.412000	0.80091	2.088000	0.63022	0.597000	0.82753	ACC	FRMPD4	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000169933		0.507	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	206	0.00	0	C	XM_045712		12720093	12720093	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	125	38.54	79	SNP	1.000	T
FRMD7	90167	genome.wustl.edu	37	X	131212885	131212885	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:131212885A>G	ENST00000298542.4	-	12	1335	c.1160T>C	c.(1159-1161)gTg>gCg	p.V387A	FRMD7_ENST00000370879.1_Missense_Mutation_p.V267A|FRMD7_ENST00000464296.1_Missense_Mutation_p.V372A	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	387					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					tgcaaatgtcacctccaatgc	0.478																																						dbGAP											0													195.0	173.0	180.0					X																	131212885		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1160T>C	X.37:g.131212885A>G	ENSP00000298542:p.Val387Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	C0LLJ3|Q5JX99	Missense_Mutation	SNP	pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.V387A	ENST00000298542.4	37	c.1160	CCDS35397.1	X	.	.	.	.	.	.	.	.	.	.	A	13.39	2.221825	0.39300	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.89270	-2.49;-2.12;-2.23	5.83	5.83	0.93111	.	0.096492	0.46145	D	0.000311	D	0.91469	0.7307	M	0.69823	2.125	0.36786	D	0.884573	D;B	0.61697	0.99;0.366	P;B	0.54174	0.744;0.047	D	0.92296	0.5845	10	0.30078	T	0.28	.	14.8377	0.70197	1.0:0.0:0.0:0.0	.	372;387	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	A	267;387;372	ENSP00000359916:V267A;ENSP00000298542:V387A;ENSP00000417996:V372A	ENSP00000298542:V387A	V	-	2	0	FRMD7	131040566	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	4.888000	0.63164	1.965000	0.57142	0.486000	0.48141	GTG	FRMD7	-	NULL	ENSG00000165694		0.478	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD7	HGNC	protein_coding	OTTHUMT00000355031.1	560	0.53	3	A	NM_194277		131212885	131212885	-1	no_errors	ENST00000298542	ensembl	human	known	69_37n	missense	267	38.39	167	SNP	1.000	G
FRYL	285527	genome.wustl.edu	37	4	48548205	48548205	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:48548205T>C	ENST00000503238.1	-	39	5157	c.5158A>G	c.(5158-5160)Atc>Gtc	p.I1720V	FRYL_ENST00000358350.4_Missense_Mutation_p.I1720V|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.I1720V			O94915	FRYL_HUMAN	FRY-like	1720					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCTAAGCTGATACTAGAAGAG	0.448																																						dbGAP											0													78.0	77.0	77.0					4																	48548205		1964	4148	6112	-	-	-	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5158A>G	4.37:g.48548205T>C	ENSP00000426064:p.Ile1720Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I1720V	ENST00000503238.1	37	c.5158	CCDS43227.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.08|13.08	2.129032|2.129032	0.37533|0.37533	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Armadillo-type fold (1);|.	0.100766|.	0.64402|.	D|.	0.000003|.	T|T	0.63931|0.63931	0.2553|0.2553	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;B;B|.	0.17038|.	0.02;0.0;0.001|.	B;B;B|.	0.16289|.	0.015;0.001;0.005|.	T|T	0.61888|0.61888	-0.6970|-0.6970	10|5	0.18710|.	T|.	0.47|.	.|.	15.2847|15.2847	0.73819|0.73819	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	550;1720;1720|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	V|C	1720|589	ENSP00000426064:I1720V;ENSP00000351113:I1720V;ENSP00000441114:I1720V|.	ENSP00000351113:I1720V|.	I|Y	-|-	1|2	0|0	FRYL|FRYL	48242962|48242962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.652000|0.652000	0.38707|0.38707	7.364000|7.364000	0.79526|0.79526	2.000000|2.000000	0.58554|0.58554	0.455000|0.455000	0.32223|0.32223	ATC|TAT	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.448	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	60	0.00	0	T			48548205	48548205	-1	no_errors	ENST00000358350	ensembl	human	known	69_37n	missense	24	38.46	15	SNP	1.000	C
FUS	2521	genome.wustl.edu	37	16	31193960	31193962	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:31193960_31193962delTTC	ENST00000254108.7	+	3	270_272	c.165_167delTTC	c.(163-168)tattct>tat	p.S57del	FUS_ENST00000568685.1_In_Frame_Del_p.S57del|FUS_ENST00000380244.3_In_Frame_Del_p.S57del|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	57	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AGAGCAGCTATTCTTCTTATGGC	0.498			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	dbGAP		Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0									,,	2,4262		0,2,2130					,,	6.1	0.5			98	0,8254		0,0,4127	no	coding,coding,coding	FUS	NM_004960.3,NM_001170937.1,NM_001170634.1	,,	0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016	,,	,,		2,12516				-	-	-	SO:0001651	inframe_deletion	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.165_167delTTC	16.37:g.31193963_31193965delTTC	ENSP00000254108:p.Ser57del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4A8	In_Frame_Del	DEL	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.S57in_frame_del	ENST00000254108.7	37	c.165_167	CCDS10707.1	16																																																																																			FUS	-	NULL	ENSG00000089280		0.498	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	104	0.00	0	TTC	NM_004960		31193960	31193962	+1	no_errors	ENST00000254108	ensembl	human	known	69_37n	in_frame_del	82	34.88	45	DEL	0.930:0.935:0.983	-
FUT10	84750	genome.wustl.edu	37	8	33318980	33318980	+	5'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:33318980C>T	ENST00000327671.5	-	0	622				FUT10_ENST00000524021.1_5'UTR|FUT10_ENST00000335589.3_5'UTR|FUT10_ENST00000518672.1_Intron	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)						embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TGCTGCCCTGCCCTGGGTGAC	0.557																																						dbGAP											0													131.0	91.0	104.0					8																	33318980		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.-10G>A	8.37:g.33318980C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	RNA	SNP	-	NULL	ENST00000327671.5	37	NULL	CCDS6088.1	8																																																																																			FUT10	-	-	ENSG00000172728		0.557	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT10	HGNC	protein_coding	OTTHUMT00000376540.1	32	0.00	0	C	NM_032664		33318980	33318980	-1	no_errors	ENST00000520503	ensembl	human	known	69_37n	rna	34	30.61	15	SNP	0.981	T
FXYD5	53827	genome.wustl.edu	37	19	35657211	35657212	+	In_Frame_Ins	INS	-	-	CAT			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:35657211_35657212insCAT	ENST00000342879.3	+	7	1248_1249	c.470_471insCAT	c.(469-474)ggcatc>ggCATcatc	p.160_161insI	FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000541435.2_In_Frame_Ins_p.160_161insI|FXYD5_ENST00000392217.3_In_Frame_Ins_p.89_90insI|FXYD5_ENST00000392219.2_In_Frame_Ins_p.160_161insI|FXYD5_ENST00000423817.3_In_Frame_Ins_p.160_161insI|FXYD5_ENST00000588699.1_In_Frame_Ins_p.160_161insI|FXYD5_ENST00000590686.1_In_Frame_Ins_p.160_161insI|FXYD5_ENST00000543307.1_In_Frame_Ins_p.160_161insI			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	160					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TTCATCACAGGCATCATCATCC	0.569																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.477_479dupCAT	19.37:g.35657218_35657220dupCAT	ENSP00000344254:p.Ile160_Ile160dup	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNZ8|Q6UW44|Q9HC34|Q9P039	In_Frame_Ins	INS	pfam_Ion-transport_regulator_FXYD	p.161in_frame_insI	ENST00000342879.3	37	c.470_471	CCDS12447.1	19																																																																																			FXYD5	-	pfam_Ion-transport_regulator_FXYD	ENSG00000089327		0.569	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXYD5	HGNC	protein_coding	OTTHUMT00000109443.1	233	0.00	0	-	NM_014164		35657211	35657212	+1	no_errors	ENST00000342879	ensembl	human	known	69_37n	in_frame_ins	159	29.33	66	INS	0.988:0.985	CAT
FZD1	8321	genome.wustl.edu	37	7	90895683	90895683	+	Silent	SNP	C	C	T	rs267601624		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:90895683C>T	ENST00000287934.2	+	1	1901	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	496					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CGCCCCTCTTCGTGTACCTGT	0.622																																						dbGAP											0													177.0	158.0	164.0					7																	90895683		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1488C>T	7.37:g.90895683C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1E8|O94815|Q549T8	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F496	ENST00000287934.2	37	c.1488	CCDS5620.1	7																																																																																			FZD1	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000157240		0.622	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2	77	0.00	0	C	NM_003505		90895683	90895683	+1	no_errors	ENST00000287934	ensembl	human	known	69_37n	silent	30	36.17	17	SNP	1.000	T
G2E3	55632	genome.wustl.edu	37	14	31081486	31081486	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:31081486G>A	ENST00000206595.6	+	13	1728	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	G2E3_ENST00000438909.2_Missense_Mutation_p.G479E|G2E3_ENST00000553504.1_Missense_Mutation_p.G555E	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	525	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAGTTAATTGGATGTCTCAGA	0.338																																						dbGAP											0													107.0	112.0	110.0					14																	31081486		2203	4295	6498	-	-	-	SO:0001583	missense	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1574G>A	14.37:g.31081486G>A	ENSP00000206595:p.Gly525Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.G525E	ENST00000206595.6	37	c.1574	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974530	0.74246	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.53206	0.63;0.63;0.63	5.47	4.58	0.56647	HECT (2);	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.76328	2.33	0.58432	D	0.999999	D;D	0.65815	0.989;0.995	P;D	0.64595	0.886;0.927	T	0.71836	-0.4472	10	0.87932	D	0	-11.0323	14.5402	0.67987	0.0707:0.0:0.9293:0.0	.	37;525	Q49AD9;Q7L622	.;G2E3_HUMAN	E	525;479;555	ENSP00000206595:G525E;ENSP00000391068:G479E;ENSP00000451653:G555E	ENSP00000206595:G525E	G	+	2	0	G2E3	30151237	1.000000	0.71417	0.964000	0.40570	0.691000	0.40173	6.393000	0.73217	1.440000	0.47531	0.555000	0.69702	GGA	G2E3	-	pfam_HECT,superfamily_HECT,smart_HECT	ENSG00000092140		0.338	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2	221	0.00	0	G	NM_017769		31081486	31081486	+1	no_errors	ENST00000206595	ensembl	human	known	69_37n	missense	141	36.77	82	SNP	1.000	A
GABPB2	126626	genome.wustl.edu	37	1	151060754	151060754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:151060754delC	ENST00000368918.3	+	2	420	c.89delC	c.(88-90)gccfs	p.A30fs	GABPB2_ENST00000368917.1_Frame_Shift_Del_p.A30fs|GABPB2_ENST00000368916.1_Frame_Shift_Del_p.A30fs	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	30					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GCAAATGGCGCCCCATTCACC	0.418																																						dbGAP											0													94.0	81.0	86.0					1																	151060754		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.89delC	1.37:g.151060754delC	ENSP00000357914:p.Ala30fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVJ8|D3DV14|Q8NAR5	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P31fs	ENST00000368918.3	37	c.89	CCDS983.1	1																																																																																			GABPB2	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000143458		0.418	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABPB2	HGNC	protein_coding	OTTHUMT00000033700.2	50	0.00	0	C	NM_144618		151060754	151060754	+1	no_errors	ENST00000368918	ensembl	human	known	69_37n	frame_shift_del	64	28.57	26	DEL	1.000	-
GABRB1	2560	genome.wustl.edu	37	4	47408912	47408914	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:47408912_47408914delAGA	ENST00000295454.3	+	8	1341_1343	c.1049_1051delAGA	c.(1048-1053)gagaag>gag	p.K351del	GABRB1_ENST00000538619.1_In_Frame_Del_p.K281del	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	351					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGTGCCAATGAGAAGAATAAACT	0.394																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1049_1051delAGA	4.37:g.47408915_47408917delAGA	ENSP00000295454:p.Lys351del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6U7|D6REL3|Q16166|Q8TBK3	In_Frame_Del	DEL	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K351in_frame_del	ENST00000295454.3	37	c.1049_1051	CCDS3474.1	4																																																																																			GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163288		0.394	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	150	0.00	0	AGA			47408912	47408914	+1	no_errors	ENST00000295454	ensembl	human	known	69_37n	in_frame_del	85	34.11	44	DEL	1.000:1.000:1.000	-
GABRB2	2561	genome.wustl.edu	37	5	160886667	160886667	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:160886667G>A	ENST00000393959.1	-	4	420	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	GABRB2_ENST00000353437.6_Missense_Mutation_p.R141C|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Missense_Mutation_p.R141C|GABRB2_ENST00000274547.2_Missense_Mutation_p.R141C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R78C			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	141					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.R141C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGATGCAGGCGAATCATGCGG	0.448																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											103.0	94.0	97.0					5																	160886667		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.421C>T	5.37:g.160886667G>A	ENSP00000377531:p.Arg141Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	p.R141C	ENST00000393959.1	37	c.421	CCDS4355.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.067052	0.93898	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;1.0	D	0.94297	0.7534	10	0.87932	D	0	.	18.6117	0.91288	0.0:0.0:1.0:0.0	.	141;78;141;141	B7Z4P0;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	C	141;141;141;141;78	ENSP00000377531:R141C;ENSP00000274547:R141C;ENSP00000274546:R141C;ENSP00000429320:R141C;ENSP00000430532:R78C	ENSP00000274547:R141C	R	-	1	0	GABRB2	160819245	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.727000	0.84838	2.455000	0.83008	0.655000	0.94253	CGC	GABRB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000145864		0.448	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB2	HGNC	protein_coding	OTTHUMT00000252704.1	108	0.00	0	G			160886667	160886667	-1	no_errors	ENST00000274547	ensembl	human	known	69_37n	missense	28	64.56	51	SNP	1.000	A
GALNS	2588	genome.wustl.edu	37	16	88902642	88902642	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:88902642C>T	ENST00000268695.5	-	6	688	c.600G>A	c.(598-600)acG>acA	p.T200T	GALNS_ENST00000542788.1_Silent_p.T125T	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	200	Catalytic domain.		T -> M (in dbSNP:rs7187889). {ECO:0000269|PubMed:16287098}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.T200T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TGGCTTCCCCCGTCTTCAGAT	0.517																																					GBM(129;1929 2344 25209 33204)	dbGAP											1	Substitution - coding silent(1)	lung(1)											80.0	75.0	76.0					16																	88902642		2198	4299	6497	-	-	-	SO:0001819	synonymous_variant	0			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.600G>A	16.37:g.88902642C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VK3	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.T200	ENST00000268695.5	37	c.600	CCDS10970.1	16																																																																																			GALNS	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000141012		0.517	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	20	0.00	0	C			88902642	88902642	-1	no_errors	ENST00000268695	ensembl	human	known	69_37n	silent	2	81.82	9	SNP	0.004	T
GANC	2595	genome.wustl.edu	37	15	42632945	42632945	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:42632945C>T	ENST00000318010.8	+	18	2385	c.2145C>T	c.(2143-2145)taC>taT	p.Y715Y		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	715					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AAGATGAATACATGCTGGGTG	0.398																																						dbGAP											0													102.0	108.0	106.0					15																	42632945		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2145C>T	15.37:g.42632945C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.Y715	ENST00000318010.8	37	c.2145	CCDS10084.1	15																																																																																			GANC	-	pfam_Glyco_hydro_31	ENSG00000214013		0.398	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	134	0.00	0	C	NM_198141		42632945	42632945	+1	no_errors	ENST00000318010	ensembl	human	known	69_37n	silent	77	41.79	56	SNP	1.000	T
GATA1	2623	genome.wustl.edu	37	X	48652431	48652431	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:48652431G>T	ENST00000376670.3	+	6	1213	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	368					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CCAAGGCCTGGGCCCTGTGGT	0.667			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	dbGAP		Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													33.0	30.0	31.0					X																	48652431		2203	4300	6503	-	-	-	SO:0001583	missense	0			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1102G>T	X.37:g.48652431G>T	ENSP00000365858:p.Gly368Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96GB8	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G368C	ENST00000376670.3	37	c.1102	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	g	14.97	2.693656	0.48202	.	.	ENSG00000102145	ENST00000376670	D	0.97710	-4.5	4.73	3.87	0.44632	.	0.197263	0.41194	U	0.000927	D	0.94706	0.8292	N	0.19112	0.55	0.21064	N	0.999797	D	0.63046	0.992	P	0.49561	0.615	D	0.89545	0.3795	10	0.54805	T	0.06	-6.9993	8.1923	0.31376	0.1157:0.0:0.8843:0.0	.	368	P15976	GATA1_HUMAN	C	368	ENSP00000365858:G368C	ENSP00000365858:G368C	G	+	1	0	GATA1	48537375	0.969000	0.33509	0.845000	0.33349	0.815000	0.46073	2.316000	0.43761	0.800000	0.34041	0.365000	0.22127	GGC	GATA1	-	pirsf_TF_GATA-1/2/3	ENSG00000102145		0.667	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	21	0.00	0	G	NM_002049		48652431	48652431	+1	no_errors	ENST00000376670	ensembl	human	known	69_37n	missense	44	38.03	27	SNP	0.121	T
GATA3	2625	genome.wustl.edu	37	10	8111496	8111497	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:8111496_8111497delTG	ENST00000346208.3	+	5	1437_1438	c.982_983delTG	c.(982-984)tggfs	p.W328fs	GATA3_ENST00000379328.3_Frame_Shift_Del_p.W329fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	328					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AACCACACTCTGGAGGAGGAAT	0.545			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.982_983delTG	10.37:g.8111496_8111497delTG	ENSP00000341619:p.Trp328fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.W329fs	ENST00000346208.3	37	c.985_986	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.545	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	82	0.00	0	TG	NM_001002295		8111496	8111497	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	46	32.39	23	DEL	1.000:1.000	-
GBA2	57704	genome.wustl.edu	37	9	35740052	35740052	+	Missense_Mutation	SNP	C	C	T	rs200048828		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:35740052C>T	ENST00000378103.3	-	8	1875	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000545786.1_Missense_Mutation_p.R457Q|GBA2_ENST00000378094.4_Missense_Mutation_p.R451Q|GBA2_ENST00000467252.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	451					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCTGCGTATCGGCACAGTGC	0.577																																						dbGAP											0													84.0	69.0	74.0					9																	35740052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1352G>A	9.37:g.35740052C>T	ENSP00000367343:p.Arg451Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.R457Q	ENST00000378103.3	37	c.1370	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	C	8.896	0.955073	0.18507	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.6	-9.05	0.00730	Beta-glucosidase, GBA2 type, N-terminal (1);	0.733878	0.13731	N	0.366647	T	0.09730	0.0239	N	0.01109	-1.01	0.18873	N	0.999987	B;B;B	0.10296	0.001;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.36335	-0.9752	9	0.22109	T	0.4	2.2455	13.7871	0.63117	0.0955:0.1267:0.0:0.7777	.	457;451;451	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	Q	451;451;457	.	ENSP00000367334:R451Q	R	-	2	0	GBA2	35730052	0.000000	0.05858	0.000000	0.03702	0.913000	0.54294	-0.609000	0.05635	-1.894000	0.01105	-0.796000	0.03273	CGA	GBA2	-	pfam_GBA2_N,pirsf_Beta_glucosidase_GBA2-type	ENSG00000070610		0.577	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1	153	0.00	0	C	NM_020944		35740052	35740052	-1	no_errors	ENST00000545786	ensembl	human	known	69_37n	missense	95	41.72	68	SNP	0.001	T
GBGT1	26301	genome.wustl.edu	37	9	136029472	136029472	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:136029472G>A	ENST00000372040.3	-	7	847	c.536C>T	c.(535-537)aCa>aTa	p.T179I	GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_3'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.T162I|GBGT1_ENST00000372043.3_Missense_Mutation_p.H173Y	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	179					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GCGCATGGATGTCTCCTCCCA	0.612																																						dbGAP											0													61.0	48.0	53.0					9																	136029472		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.536C>T	9.37:g.136029472G>A	ENSP00000361110:p.Thr179Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	pfam_Glyco_trans_6	p.T179I	ENST00000372040.3	37	c.536	CCDS6960.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.005|0.005	-2.130137|-2.130137	0.00338|0.00338	.|.	.|.	ENSG00000148288|ENSG00000148288	ENST00000372043|ENST00000372040;ENST00000540636	T|T;T	0.21734|0.00768	1.99|5.72;5.72	5.04|5.04	2.5|2.5	0.30297|0.30297	.|.	.|0.422554	.|0.25795	.|N	.|0.028243	T|T	0.00178|0.00178	0.0005|0.0005	N|N	0.00015|0.00015	-2.885|-2.885	0.20926|0.20926	N|N	0.999829|0.999829	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.44050|0.44050	-0.9353|-0.9353	7|10	0.87932|0.02654	D|T	0|1	-12.2697|-12.2697	8.6325|8.6325	0.33928|0.33928	0.8394:0.0:0.1606:0.0|0.8394:0.0:0.1606:0.0	.|.	.|162;179	.|B7Z8S5;Q8N5D6	.|.;GBGT1_HUMAN	Y|I	173|179;162	ENSP00000361113:H173Y|ENSP00000361110:T179I;ENSP00000437663:T162I	ENSP00000361113:H173Y|ENSP00000361110:T179I	H|T	-|-	1|2	0|0	GBGT1|GBGT1	135019293|135019293	1.000000|1.000000	0.71417|0.71417	0.129000|0.129000	0.21949|0.21949	0.004000|0.004000	0.04260|0.04260	4.801000|4.801000	0.62532|0.62532	0.261000|0.261000	0.21753|0.21753	-0.658000|-0.658000	0.03865|0.03865	CAT|ACA	GBGT1	-	pfam_Glyco_trans_6	ENSG00000148288		0.612	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBGT1	HGNC	protein_coding	OTTHUMT00000054815.1	12	0.00	0	G	NM_021996		136029472	136029472	-1	no_errors	ENST00000372040	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	0.731	A
GC	2638	genome.wustl.edu	37	4	72620820	72620820	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:72620820T>C	ENST00000273951.8	-	9	1382	c.1039A>G	c.(1039-1041)Aca>Gca	p.T347A	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.T366A|GC_ENST00000513476.1_Missense_Mutation_p.T347A	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	347	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	AGTTCAAATGTATACCTAGCA	0.358																																						dbGAP											0													102.0	94.0	97.0					4																	72620820		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1039A>G	4.37:g.72620820T>C	ENSP00000273951:p.Thr347Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_Serum_albumin	p.T347A	ENST00000273951.8	37	c.1039	CCDS3550.1	4	.	.	.	.	.	.	.	.	.	.	T	6.291	0.421729	0.11928	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.73152	-0.72;-0.72;-0.72	4.66	-0.901	0.10540	.	0.816401	0.11473	N	0.560482	T	0.61286	0.2335	L	0.56769	1.78	0.09310	N	1	B;B	0.30889	0.299;0.133	B;B	0.30646	0.118;0.058	T	0.48422	-0.9037	10	0.29301	T	0.29	.	7.7328	0.28796	0.0:0.4045:0.0:0.5955	.	366;347	D6RAK8;D6RF35	.;.	A	347;366;347	ENSP00000273951:T347A;ENSP00000421725:T366A;ENSP00000426683:T347A	ENSP00000273951:T347A	T	-	1	0	GC	72839684	0.002000	0.14202	0.020000	0.16555	0.494000	0.33585	-0.594000	0.05733	-0.223000	0.09943	0.459000	0.35465	ACA	GC	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_Serum_albumin	ENSG00000145321		0.358	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GC	HGNC	protein_coding	OTTHUMT00000252167.2	149	0.00	0	T			72620820	72620820	-1	no_errors	ENST00000273951	ensembl	human	known	69_37n	missense	59	54.62	71	SNP	0.013	C
GCM2	9247	genome.wustl.edu	37	6	10882012	10882012	+	Silent	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:10882012C>A	ENST00000379491.4	-	1	162	c.15G>T	c.(13-15)gcG>gcT	p.A5A	RP11-637O19.3_ENST00000480294.1_Intron|RP11-637O19.2_ENST00000436249.3_RNA|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	5					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTTCCTGCACCGCGGCCGCCG	0.597																																						dbGAP											0													33.0	33.0	33.0					6																	10882012		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.15G>T	6.37:g.10882012C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3GDV6|Q5THN5	Silent	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.A5	ENST00000379491.4	37	c.15	CCDS4517.1	6																																																																																			GCM2	-	NULL	ENSG00000124827		0.597	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	16	0.00	0	C			10882012	10882012	-1	no_errors	ENST00000379491	ensembl	human	known	69_37n	silent	16	48.39	15	SNP	0.000	A
GCNT3	9245	genome.wustl.edu	37	15	59911270	59911270	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:59911270T>C	ENST00000396065.1	+	3	1281	c.833T>C	c.(832-834)cTa>cCa	p.L278P	GCNT3_ENST00000560585.1_Missense_Mutation_p.L278P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	278					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACATTACACCTAACCAACAAG	0.428																																						dbGAP											0													183.0	189.0	187.0					15																	59911270		2190	4290	6480	-	-	-	SO:0001583	missense	0			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.833T>C	15.37:g.59911270T>C	ENSP00000379377:p.Leu278Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_trans_14	p.L278P	ENST00000396065.1	37	c.833	CCDS10172.1	15	.	.	.	.	.	.	.	.	.	.	T	1.072	-0.669572	0.03403	.	.	ENSG00000140297	ENST00000396065	T	0.12255	2.7	5.54	-5.62	0.02481	.	0.738239	0.09855	U	0.747083	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42120	-0.9470	10	0.27082	T	0.32	.	7.8513	0.29457	0.4331:0.0:0.3985:0.1684	.	278	O95395	GCNT3_HUMAN	P	278	ENSP00000379377:L278P	ENSP00000379377:L278P	L	+	2	0	GCNT3	57698562	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.263000	0.08670	-0.494000	0.06669	0.533000	0.62120	CTA	GCNT3	-	pfam_Glyco_trans_14	ENSG00000140297		0.428	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT3	HGNC	protein_coding	OTTHUMT00000256068.1	279	0.00	0	T	NM_004751		59911270	59911270	+1	no_errors	ENST00000396065	ensembl	human	known	69_37n	missense	221	47.76	203	SNP	0.000	C
NDUFS1	4719	genome.wustl.edu	37	2	206980715	206980715	+	3'UTR	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:206980715delT	ENST00000233190.6	-	0	10644				AC007383.4_ENST00000453039.1_RNA	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTAACAGTAGTTTTTTTTTCC	0.323																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.*8194A>-	2.37:g.206980715delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	RNA	DEL	-	NULL	ENST00000233190.6	37	NULL	CCDS2366.1	2																																																																																			AC007383.4	-	-	ENSG00000231955		0.323	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCSHP3	Clone_based_vega_gene	protein_coding	OTTHUMT00000256391.4	55	0.00	0	T	NM_005006		206980715	206980715	+1	no_errors	ENST00000453039	ensembl	human	putative	69_37n	rna	20	37.50	12	DEL	0.033	-
GFAP	2670	genome.wustl.edu	37	17	42985269	42985269	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:42985269C>T	ENST00000253408.5	-	8	1323				GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein						astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACTGAGGAAACGGAATTACAT	0.512																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1257+162G>A	17.37:g.42985269C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	NULL	p.V96I	ENST00000253408.5	37	c.286	CCDS11491.1	17																																																																																			GFAP	-	NULL	ENSG00000131095		0.512	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFAP	HGNC	protein_coding	OTTHUMT00000448701.1	43	0.00	0	C	NM_002055		42985269	42985269	-1	no_start_codon	ENST00000591880	ensembl	human	putative	69_37n	missense	30	37.50	18	SNP	0.000	T
GFM2	84340	genome.wustl.edu	37	5	74018322	74018322	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:74018322C>A	ENST00000296805.3	-	20	2550	c.2093G>T	c.(2092-2094)aGa>aTa	p.R698I	RNU6-658P_ENST00000384606.1_RNA|GFM2_ENST00000345239.2_Missense_Mutation_p.R651I|GFM2_ENST00000509430.1_Missense_Mutation_p.R698I|GFM2_ENST00000515125.1_5'UTR	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GAGATAATCTCTAGCTACTGT	0.388																																						dbGAP											0													118.0	119.0	119.0					5																	74018322		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.2093G>T	5.37:g.74018322C>A	ENSP00000296805:p.Arg698Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.R698I	ENST00000296805.3	37	c.2093	CCDS4023.1	5	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750505	0.49257	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000509430	T;T;T	0.63255	-0.03;-0.03;-0.03	5.96	2.26	0.28386	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.558656	0.21201	N	0.078465	T	0.36193	0.0958	N	0.02802	-0.49	0.48395	D	0.99964	B;B;B	0.32203	0.131;0.36;0.159	B;B;B	0.37480	0.104;0.17;0.251	T	0.19095	-1.0316	10	0.87932	D	0	-0.1312	5.0817	0.14661	0.0:0.4352:0.1524:0.4124	.	696;651;698	Q969S9-3;Q969S9-2;Q969S9	.;.;RRF2M_HUMAN	I	698;651;698	ENSP00000296805:R698I;ENSP00000296804:R651I;ENSP00000427004:R698I	ENSP00000296805:R698I	R	-	2	0	GFM2	74054078	0.994000	0.37717	0.006000	0.13384	0.990000	0.78478	2.523000	0.45580	0.133000	0.18654	-0.157000	0.13467	AGA	GFM2	-	pfam_Transl_elong_EFG/EF2_C,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_C	ENSG00000164347		0.388	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM2	HGNC	protein_coding	OTTHUMT00000219860.2	452	0.22	1	C	NM_032380		74018322	74018322	-1	no_errors	ENST00000296805	ensembl	human	known	69_37n	missense	249	38.52	156	SNP	0.679	A
GFOD1	54438	genome.wustl.edu	37	6	13365244	13365244	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:13365244A>G	ENST00000379287.3	-	2	1568	c.904T>C	c.(904-906)Tac>Cac	p.Y302H	GFOD1_ENST00000379284.1_Missense_Mutation_p.Y199H	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	302						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CCGCGCAGGTAGGGCGAGGGG	0.701																																						dbGAP											0													49.0	50.0	50.0					6																	13365244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.904T>C	6.37:g.13365244A>G	ENSP00000368589:p.Tyr302His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	pfam_Oxidoreductase_N,pfam_OxRdtase_C	p.Y302H	ENST00000379287.3	37	c.904	CCDS4524.1	6	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719617	0.48728	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.49139	1.42;0.79	5.6	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.38175	1.15	0.80722	D	1	B	0.22211	0.066	B	0.26202	0.067	T	0.04664	-1.0935	10	0.31617	T	0.26	-42.79	10.8064	0.46520	0.9258:0.0:0.0742:0.0	.	302	Q9NXC2	GFOD1_HUMAN	H	302;199	ENSP00000368589:Y302H;ENSP00000368586:Y199H	ENSP00000368586:Y199H	Y	-	1	0	GFOD1	13473223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	0.944000	0.37579	0.454000	0.30748	TAC	GFOD1	-	NULL	ENSG00000145990		0.701	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD1	HGNC	protein_coding	OTTHUMT00000039902.1	29	0.00	0	A	NM_018988		13365244	13365244	-1	no_errors	ENST00000379287	ensembl	human	known	69_37n	missense	14	48.15	13	SNP	1.000	G
GGA1	26088	genome.wustl.edu	37	22	38026927	38026927	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:38026927delC	ENST00000343632.4	+	14	1735	c.1349delC	c.(1348-1350)accfs	p.T450fs	GGA1_ENST00000325180.8_Frame_Shift_Del_p.T363fs|GGA1_ENST00000381756.5_Frame_Shift_Del_p.T467fs|GGA1_ENST00000337437.4_Frame_Shift_Del_p.T417fs|GGA1_ENST00000406772.1_Frame_Shift_Del_p.T377fs	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	450	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CAGCAGCCAACCCCCCGGCTC	0.602																																						dbGAP											0													34.0	37.0	36.0					22																	38026927		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1349delC	22.37:g.38026927delC	ENSP00000341344:p.Thr450fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Frame_Shift_Del	DEL	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.R452fs	ENST00000343632.4	37	c.1349	CCDS13951.1	22																																																																																			GGA1	-	NULL	ENSG00000100083		0.602	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	15	0.00	0	C	NM_013365		38026927	38026927	+1	no_errors	ENST00000343632	ensembl	human	known	69_37n	frame_shift_del	15	33.33	8	DEL	0.964	-
GGNBP2	79893	genome.wustl.edu	37	17	34913056	34913056	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:34913056T>C	ENST00000304718.4	+	4	624	c.308T>C	c.(307-309)cTt>cCt	p.L103P		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	103					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTTTCCCAGCTTGTAGAGTCT	0.502																																						dbGAP											0													204.0	177.0	186.0					17																	34913056		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.308T>C	17.37:g.34913056T>C	ENSP00000307617:p.Leu103Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.L103P	ENST00000304718.4	37	c.308	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	T	22.7	4.318105	0.81469	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.13	5.13	0.70059	.	0.204981	0.40640	N	0.001041	T	0.76343	0.3974	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.67548	0.952;0.912	T	0.79593	-0.1739	9	0.87932	D	0	-0.2894	15.2738	0.73726	0.0:0.0:0.0:1.0	.	103;103	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	P	103	.	ENSP00000307617:L103P	L	+	2	0	GGNBP2	31987169	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.588000	0.67517	2.080000	0.62538	0.472000	0.43445	CTT	GGNBP2	-	NULL	ENSG00000005955		0.502	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	90	0.00	0	T	NM_024835		34913056	34913056	+1	no_errors	ENST00000304718	ensembl	human	known	69_37n	missense	53	53.51	61	SNP	1.000	C
GLA	2717	genome.wustl.edu	37	X	100653843	100653843	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:100653843T>A	ENST00000218516.3	-	5	752	c.731A>T	c.(730-732)gAc>gTc	p.D244V	GLA_ENST00000479445.1_5'Flank|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	244			D -> H (in FD). {ECO:0000269|PubMed:10666480}.|D -> N (in FD).		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						AGATGTCCAGTCCAAGATACT	0.418																																					Colon(193;776 2816 31189 44474)	dbGAP											0													148.0	140.0	142.0					X																	100653843		2203	4300	6503	-	-	-	SO:0001583	missense	0			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.731A>T	X.37:g.100653843T>A	ENSP00000218516:p.Asp244Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LER7	Missense_Mutation	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.D244V	ENST00000218516.3	37	c.731	CCDS14484.1	X	.	.	.	.	.	.	.	.	.	.	T	14.81	2.646019	0.47258	.	.	ENSG00000102393	ENST00000218516	D	0.99846	-7.13	5.97	-2.05	0.07321	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.494061	0.24590	N	0.037222	D	0.99118	0.9696	.	.	.	0.58432	D	0.999999	P	0.37985	0.613	B	0.34652	0.187	D	0.94781	0.7953	9	0.87932	D	0	-2.3755	16.8861	0.86076	0.0:0.0:0.5535:0.4465	.	244	P06280	AGAL_HUMAN	V	244	ENSP00000218516:D244V	ENSP00000218516:D244V	D	-	2	0	GLA	100540499	1.000000	0.71417	0.487000	0.27428	0.825000	0.46686	1.909000	0.39917	-0.262000	0.09392	0.486000	0.48141	GAC	GLA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000102393		0.418	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	322	0.00	0	T			100653843	100653843	-1	no_errors	ENST00000218516	ensembl	human	known	69_37n	missense	170	40.97	118	SNP	0.967	A
GLB1L3	112937	genome.wustl.edu	37	11	134158735	134158735	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:134158735A>G	ENST00000431683.2	+	7	680	c.680A>G	c.(679-681)gAg>gGg	p.E227G	GLB1L3_ENST00000389887.5_Missense_Mutation_p.E227G	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	227					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGGAGAATGAGTATGGCTCA	0.502																																						dbGAP											0													79.0	79.0	79.0					11																	134158735		1971	4153	6124	-	-	-	SO:0001583	missense	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.680A>G	11.37:g.134158735A>G	ENSP00000396615:p.Glu227Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.E227G	ENST00000431683.2	37	c.680	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564474	0.65651	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.99823	-6.95;-6.95	5.01	3.89	0.44902	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99894	0.9949	H	0.99565	4.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97022	0.9744	9	0.87932	D	0	.	8.5193	0.33266	0.911:0.0:0.089:0.0	.	227;227	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	G	227	ENSP00000374537:E227G;ENSP00000396615:E227G	ENSP00000374537:E227G	E	+	2	0	GLB1L3	133663945	1.000000	0.71417	0.932000	0.37286	0.490000	0.33462	4.324000	0.59228	1.047000	0.40274	0.533000	0.62120	GAG	GLB1L3	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35	ENSG00000166105		0.502	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	51	0.00	0	A	NM_138416		134158735	134158735	+1	no_errors	ENST00000431683	ensembl	human	known	69_37n	missense	35	37.93	22	SNP	0.998	G
GLCE	26035	genome.wustl.edu	37	15	69553370	69553370	+	Intron	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:69553370G>T	ENST00000261858.2	+	4	814				GLCE_ENST00000559420.2_Intron|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						AATGGTATTAGGAATAGGCTT	0.383																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.587-56G>T	15.37:g.69553370G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GUQ2	RNA	SNP	-	NULL	ENST00000261858.2	37	NULL	CCDS32277.1	15																																																																																			GLCE	-	-	ENSG00000138604		0.383	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		166	0.60	1	G	NM_015554		69553370	69553370	+1	no_errors	ENST00000559500	ensembl	human	putative	69_37n	rna	90	39.60	59	SNP	0.000	T
GLI2	2736	genome.wustl.edu	37	2	121740302	121740302	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:121740302G>A	ENST00000452319.1	+	11	1589	c.1529G>A	c.(1528-1530)tGc>tAc	p.C510Y	GLI2_ENST00000314490.11_Missense_Mutation_p.C182Y|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.C510Y					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCGAGGGCTGCTCGAAGGCC	0.632																																						dbGAP											0													54.0	56.0	55.0					2																	121740302		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1529G>A	2.37:g.121740302G>A	ENSP00000390436:p.Cys510Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C510Y	ENST00000452319.1	37	c.1529	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563569	0.86335	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.85861	-2.04;-2.04;-2.04	4.39	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	M	0.92268	3.29	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.993;0.998;1.0;1.0	D	0.95560	0.8628	10	0.87932	D	0	.	17.4864	0.87689	0.0:0.0:1.0:0.0	.	510;493;165;165;182	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	Y	510;510;182	ENSP00000390436:C510Y;ENSP00000354586:C510Y;ENSP00000312694:C182Y	ENSP00000312694:C182Y	C	+	2	0	GLI2	121456772	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.588000	0.98232	2.429000	0.82318	0.484000	0.47621	TGC	GLI2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000074047		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	29	0.00	0	G	NM_005270		121740302	121740302	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	1.000	A
GLI3	2737	genome.wustl.edu	37	7	42018225	42018225	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:42018225G>T	ENST00000395925.3	-	11	1704	c.1620C>A	c.(1618-1620)caC>caA	p.H540Q	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	540					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTCGCCCGTGTGTCTTCTCA	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													dbGAP											0													117.0	105.0	109.0					7																	42018225		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1620C>A	7.37:g.42018225G>T	ENSP00000379258:p.His540Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H540Q	ENST00000395925.3	37	c.1620	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	19.78	3.892017	0.72524	.	.	ENSG00000106571	ENST00000395925	T	0.66995	-0.24	5.84	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84727	0.0743	10	0.87932	D	0	.	9.6891	0.40116	0.4247:0.0:0.5753:0.0	.	540	P10071	GLI3_HUMAN	Q	540	ENSP00000379258:H540Q	ENSP00000379258:H540Q	H	-	3	2	GLI3	41984750	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	1.533000	0.36040	0.398000	0.25338	0.650000	0.86243	CAC	GLI3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000106571		0.507	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	68	0.00	0	G	NM_000168		42018225	42018225	-1	no_errors	ENST00000395925	ensembl	human	known	69_37n	missense	38	45.71	32	SNP	1.000	T
GLYR1	84656	genome.wustl.edu	37	16	4861199	4861199	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:4861199G>A	ENST00000321919.9	-	15	1635	c.1559C>T	c.(1558-1560)cCg>cTg	p.P520L	GLYR1_ENST00000381983.3_Missense_Mutation_p.P503L|GLYR1_ENST00000591451.1_Missense_Mutation_p.P514L|GLYR1_ENST00000436648.5_Missense_Mutation_p.P439L	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	520					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CATGGGAGTCGGATGGTTGAC	0.458																																						dbGAP											0													124.0	118.0	120.0					16																	4861199		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1559C>T	16.37:g.4861199G>A	ENSP00000322716:p.Pro520Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.P520L	ENST00000321919.9	37	c.1559	CCDS10524.1	16	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750005	0.69533	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.35605	1.3;1.3;1.3	5.72	5.72	0.89469	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;P;D	0.74023	0.941;0.982;0.876;0.971	T	0.70267	-0.4919	10	0.72032	D	0.01	-12.2917	18.6366	0.91380	0.0:0.0:1.0:0.0	.	439;514;503;520	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	L	520;503;439	ENSP00000322716:P520L;ENSP00000371413:P503L;ENSP00000390276:P439L	ENSP00000322716:P520L	P	-	2	0	GLYR1	4801200	1.000000	0.71417	0.956000	0.39512	0.282000	0.26991	7.795000	0.85887	2.700000	0.92200	0.561000	0.74099	CCG	GLYR1	-	superfamily_6-PGluconate_DH_C-like	ENSG00000140632		0.458	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	388	0.26	1	G	NM_032569		4861199	4861199	-1	no_errors	ENST00000321919	ensembl	human	known	69_37n	missense	228	43.87	179	SNP	1.000	A
GMPR	2766	genome.wustl.edu	37	6	16290772	16290772	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:16290772C>T	ENST00000259727.4	+	8	891	c.777C>T	c.(775-777)aaC>aaT	p.N259N	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	259					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TTGAGAGGAACGGACGGAAGC	0.552																																						dbGAP											0													236.0	216.0	222.0					6																	16290772		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.777C>T	6.37:g.16290772C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96HQ6	Silent	SNP	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	p.N259	ENST00000259727.4	37	c.777	CCDS4537.1	6																																																																																			GMPR	-	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	ENSG00000137198		0.552	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPR	HGNC	protein_coding	OTTHUMT00000039942.2	208	0.00	0	C			16290772	16290772	+1	no_errors	ENST00000259727	ensembl	human	known	69_37n	silent	111	42.71	85	SNP	0.792	T
GNA11	2767	genome.wustl.edu	37	19	3113346	3113346	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:3113346C>T	ENST00000078429.4	+	3	582	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	114					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCTCCTGATCCGGGAGGTGGA	0.637			Mis		uveal melanoma																																	dbGAP		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0													82.0	74.0	77.0					19																	3113346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.340C>T	19.37:g.3113346C>T	ENSP00000078429:p.Arg114Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15109|Q14350|Q6IB00	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA	p.R114W	ENST00000078429.4	37	c.340	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	25.1	4.604796	0.87157	.	.	ENSG00000088256	ENST00000078429	D	0.89123	-2.47	4.31	3.25	0.37280	G protein alpha subunit, helical insertion (2);	0.090044	0.43919	D	0.000509	D	0.92502	0.7619	M	0.82193	2.58	0.54753	D	0.999986	D	0.64830	0.994	P	0.57324	0.818	D	0.91295	0.5062	10	0.38643	T	0.18	.	12.315	0.54951	0.17:0.83:0.0:0.0	.	114	P29992	GNA11_HUMAN	W	114	ENSP00000078429:R114W	ENSP00000078429:R114W	R	+	1	2	GNA11	3064346	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.689000	0.37700	0.791000	0.33826	0.561000	0.74099	CGG	GNA11	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su	ENSG00000088256		0.637	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	HGNC	protein_coding	OTTHUMT00000452261.2	12	0.00	0	C	NM_002067		3113346	3113346	+1	no_errors	ENST00000078429	ensembl	human	known	69_37n	missense	7	53.33	8	SNP	1.000	T
GNAS	2778	genome.wustl.edu	37	20	57428757	57428757	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:57428757G>A	ENST00000371100.4	+	1	989	c.437G>A	c.(436-438)gGt>gAt	p.G146D	GNAS_ENST00000371099.2_Missense_Mutation_p.G146D|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.V83M|GNAS_ENST00000371102.4_Missense_Mutation_p.G146D|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS-AS1_ENST00000598163.1_RNA	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTTCAGTGGTGCCAGACCA	0.607			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	dbGAP		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													35.0	41.0	39.0					20																	57428757		1929	4143	6072	-	-	-	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.437G>A	20.37:g.57428757G>A	ENSP00000360141:p.Gly146Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.G146D	ENST00000371100.4	37	c.437	CCDS46622.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.454|6.454	0.451992|0.451992	0.12283|0.12283	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.90197|.	-2.63;-2.62|.	4.87|4.87	3.88|3.88	0.44766|0.44766	.|.	.|.	.|.	.|.	.|.	T|T	0.19805|0.19805	0.0476|0.0476	N|N	0.08118|0.08118	0|0	0.19575|0.19575	N|N	0.999968|0.999968	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.12915|0.12915	-1.0529|-1.0529	9|6	0.12103|0.56958	T|D	0.63|0.05	.|.	4.9349|4.9349	0.13935|0.13935	0.2283:0.0:0.7717:0.0|0.2283:0.0:0.7717:0.0	.|.	146|.	Q5JWF2|.	GNAS1_HUMAN|.	D|M	146|83	ENSP00000360141:G146D;ENSP00000360143:G146D|.	ENSP00000360140:G146D|ENSP00000302237:V83M	G|V	+|+	2|1	0|0	GNAS|GNAS	56862152|56862152	0.011000|0.011000	0.17503|0.17503	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	0.959000|0.959000	0.29240|0.29240	1.203000|1.203000	0.43233|0.43233	0.655000|0.655000	0.94253|0.94253	GGT|GTG	GNAS	-	NULL	ENSG00000087460		0.607	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3	16	0.00	0	G	NM_000516		57428757	57428757	+1	no_errors	ENST00000371100	ensembl	human	putative	69_37n	missense	13	45.83	11	SNP	0.004	A
GNG13	51764	genome.wustl.edu	37	16	848773	848773	+	Silent	SNP	G	G	A	rs568452960		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:848773G>A	ENST00000248150.4	-	3	251	c.150C>T	c.(148-150)ccC>ccT	p.P50P		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	50					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|sensory perception of taste (GO:0050909)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			ovary(1)	1		Hepatocellular(780;0.00335)				TCATCAGGTCGGGGTTCAGGA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		15251	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													141.0	145.0	143.0					16																	848773		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AB030207	CCDS10427.1	16p13.3	2008-08-01			ENSG00000127588	ENSG00000127588			14131	protein-coding gene	gene with protein product	"""G gamma subunit, clone:h2-35"""	607298				10570481	Standard	NM_016541		Approved	h2-35, G(gamma)13	uc002ckh.4	Q9P2W3	OTTHUMG00000047839	ENST00000248150.4:c.150C>T	16.37:g.848773G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5C8|Q52LX0|Q9UJJ3	Silent	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,prints_Gprotein-gamma,pfscan_G-protein_gamma-like_dom	p.P50	ENST00000248150.4	37	c.150	CCDS10427.1	16																																																																																			GNG13	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,prints_Gprotein-gamma,pfscan_G-protein_gamma-like_dom	ENSG00000127588		0.652	GNG13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNG13	HGNC	protein_coding	OTTHUMT00000109062.3	17	0.00	0	G	NM_016541		848773	848773	-1	no_errors	ENST00000248150	ensembl	human	known	69_37n	silent	15	34.78	8	SNP	0.790	A
GOLGA1	2800	genome.wustl.edu	37	9	127651761	127651761	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:127651761delT	ENST00000373555.4	-	17	1885	c.1552delA	c.(1552-1554)accfs	p.T518fs	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	518	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGCACTTCGGTTTTTTCCCGC	0.522																																						dbGAP											0													270.0	251.0	258.0					9																	127651761		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1552delA	9.37:g.127651761delT	ENSP00000362656:p.Thr518fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T164|Q8IYZ9	Frame_Shift_Del	DEL	pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP	p.T518fs	ENST00000373555.4	37	c.1552	CCDS6860.1	9																																																																																			GOLGA1	-	NULL	ENSG00000136935		0.522	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	HGNC	protein_coding	OTTHUMT00000054049.1	497	0.00	0	T	NM_002077		127651761	127651761	-1	no_errors	ENST00000373555	ensembl	human	known	69_37n	frame_shift_del	368	36.74	223	DEL	0.000	-
GOLGA3	2802	genome.wustl.edu	37	12	133351866	133351866	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:133351866G>A	ENST00000450791.2	-	21	4187	c.4004C>T	c.(4003-4005)gCc>gTc	p.A1335V	GOLGA3_ENST00000456883.2_Missense_Mutation_p.A1335V|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A1335V			Q08378	GOGA3_HUMAN	golgin A3	1335	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCTTCCTGGGCCATCTCCAA	0.443																																						dbGAP											0													94.0	85.0	88.0					12																	133351866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4004C>T	12.37:g.133351866G>A	ENSP00000410378:p.Ala1335Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.A1335V	ENST00000450791.2	37	c.4004	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607505	0.03717	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.80566	-1.39;-1.39;2.33	6.07	0.804	0.18697	.	0.220359	0.46442	N	0.000290	T	0.45776	0.1359	N	0.00823	-1.155	0.36035	D	0.839645	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.50338	-0.8840	10	0.05959	T	0.93	.	10.7788	0.46365	0.6127:0.0:0.3873:0.0	.	1335;1335	Q08378-2;Q08378	.;GOGA3_HUMAN	V	1335	ENSP00000204726:A1335V;ENSP00000410378:A1335V;ENSP00000409303:A1335V	ENSP00000204726:A1335V	A	-	2	0	GOLGA3	131861939	0.960000	0.32886	0.063000	0.19743	0.430000	0.31655	2.848000	0.48278	0.208000	0.20626	0.655000	0.94253	GCC	GOLGA3	-	NULL	ENSG00000090615		0.443	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	75	0.00	0	G	NM_005895		133351866	133351866	-1	no_errors	ENST00000204726	ensembl	human	known	69_37n	missense	46	31.34	21	SNP	0.160	A
GON4L	54856	genome.wustl.edu	37	1	155764894	155764894	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:155764894A>G	ENST00000368331.1	-	12	1742	c.1694T>C	c.(1693-1695)cTc>cCc	p.L565P	GON4L_ENST00000361040.5_Missense_Mutation_p.L565P|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.L565P|GON4L_ENST00000271883.5_Missense_Mutation_p.L565P	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	565	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGTTCATCGAGGTCTTCCAG	0.423																																						dbGAP											0													127.0	117.0	120.0					1																	155764894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1694T>C	1.37:g.155764894A>G	ENSP00000357315:p.Leu565Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.L565P	ENST00000368331.1	37	c.1694		1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211271	0.58343	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.13901	2.74;2.74;2.74;2.55	4.97	1.2	0.21068	.	0.321544	0.25708	N	0.028837	T	0.16685	0.0401	M	0.65498	2.005	0.58432	D	0.999999	B;B;B;B;D;D	0.67145	0.003;0.037;0.033;0.046;0.994;0.996	B;B;B;B;P;D	0.65987	0.004;0.024;0.041;0.046;0.873;0.94	T	0.01748	-1.1282	10	0.66056	D	0.02	.	7.3705	0.26798	0.6555:0.2722:0.0723:0.0	.	345;259;565;565;565;565	Q6PHZ4;Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;.;GON4L_HUMAN;.	P	565;565;565;565;565;44	ENSP00000396117:L565P;ENSP00000357315:L565P;ENSP00000271883:L565P;ENSP00000354322:L565P	ENSP00000271883:L565P	L	-	2	0	GON4L	154031518	0.992000	0.36948	0.990000	0.47175	0.961000	0.63080	3.107000	0.50329	0.088000	0.17205	-0.326000	0.08463	CTC	GON4L	-	NULL	ENSG00000116580		0.423	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		122	0.00	0	A	NM_032292		155764894	155764894	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	130	24.42	42	SNP	0.971	G
GPHN	10243	genome.wustl.edu	37	14	67647553	67647553	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:67647553C>T	ENST00000315266.5	+	22	3231	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	GPHN_ENST00000543237.1_Missense_Mutation_p.R750C|GPHN_ENST00000478722.1_Missense_Mutation_p.R737C|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.R673C	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	704	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GATGAGCATGCGCAGTGCCAA	0.483			T	MLL	AL																																	dbGAP		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													152.0	120.0	131.0					14																	67647553		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.2110C>T	14.37:g.67647553C>T	ENSP00000312771:p.Arg704Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	pfam_Mopterin-bd,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd,tigrfam_Mo_cofactor_synthesis	p.R737C	ENST00000315266.5	37	c.2209	CCDS32103.1	14	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643484	0.47258	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.83	5.83	0.93111	MoeA, C-terminal, domain IV (3);	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	L	0.48986	1.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.989;1.0	D;D;P;D	0.68192	0.935;0.956;0.633;0.943	T	0.73398	-0.3995	9	0.46703	T	0.11	-4.8209	20.1307	0.97998	0.0:1.0:0.0:0.0	.	673;750;704;737	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	C	704;737;750;673	.	ENSP00000303019:R673C	R	+	1	0	GPHN	66717306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.806000	0.69150	2.768000	0.95171	0.467000	0.42956	CGC	GPHN	-	pfam_MoeA_C_domain_IV,superfamily_MoeA_C_domain_IV	ENSG00000171723		0.483	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	HGNC	protein_coding	OTTHUMT00000074299.2	55	0.00	0	C	NM_020806		67647553	67647553	+1	no_errors	ENST00000478722	ensembl	human	known	69_37n	missense	19	54.76	23	SNP	1.000	T
GPR114	221188	genome.wustl.edu	37	16	57608843	57608843	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:57608843G>A	ENST00000340339.4	+	11	1848	c.1325G>A	c.(1324-1326)cGg>cAg	p.R442Q	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.R442Q	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	442					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGCAGGCTGCGGGAGCGGGCG	0.667																																						dbGAP											0													62.0	51.0	55.0					16																	57608843		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.1325G>A	16.37:g.57608843G>A	ENSP00000342981:p.Arg442Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.R442Q	ENST00000340339.4	37	c.1325	CCDS10785.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.876968|2.876968	0.51801|0.51801	.|.	.|.	ENSG00000159618|ENSG00000159618	ENST00000394361|ENST00000340339;ENST00000349457	.|T;T	.|0.42900	.|0.96;0.96	5.56|5.56	1.88|1.88	0.25563|0.25563	.|GPCR, family 2-like (1);	.|1.047850	.|0.07553	.|N	.|0.915768	T|T	0.35828|0.35828	0.0945|0.0945	L|L	0.55213|0.55213	1.73|1.73	0.34917|0.34917	D|D	0.748045|0.748045	B|P	0.33135|0.37573	0.399|0.6	B|B	0.23275|0.28849	0.045|0.095	T|T	0.45891|0.45891	-0.9230|-0.9230	8|10	0.42905|0.56958	T|D	0.14|0.05	.|.	9.4954|9.4954	0.38984|0.38984	0.2812:0.0:0.7188:0.0|0.2812:0.0:0.7188:0.0	.|.	403|442	B4E148|Q8IZF4	.|GP114_HUMAN	R|Q	403|442	.|ENSP00000342981:R442Q;ENSP00000290823:R442Q	ENSP00000377888:G403R|ENSP00000342981:R442Q	G|R	+|+	1|2	0|0	GPR114|GPR114	56166344|56166344	0.000000|0.000000	0.05858|0.05858	0.758000|0.758000	0.31321|0.31321	0.839000|0.839000	0.47603|0.47603	-0.213000|-0.213000	0.09305|0.09305	0.621000|0.621000	0.30232|0.30232	0.491000|0.491000	0.48974|0.48974	GGG|CGG	GPR114	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000159618		0.667	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	14	0.00	0	G	NM_153837		57608843	57608843	+1	no_errors	ENST00000340339	ensembl	human	known	69_37n	missense	4	71.43	10	SNP	0.701	A
GPR125	166647	genome.wustl.edu	37	4	22456505	22456505	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:22456505T>A	ENST00000334304.5	-	4	726	c.457A>T	c.(457-459)Acc>Tcc	p.T153S	GPR125_ENST00000502482.1_Missense_Mutation_p.T153S|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	153					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACCAGATTGGTGAGTCCTCGA	0.363																																						dbGAP											0													126.0	115.0	119.0					4																	22456505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.457A>T	4.37:g.22456505T>A	ENSP00000334952:p.Thr153Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.T153S	ENST00000334304.5	37	c.457	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	T	10.39	1.338217	0.24253	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	D;D	0.90133	-2.62;-2.62	6.06	6.06	0.98353	.	0.242577	0.48767	D	0.000173	T	0.81442	0.4823	N	0.25060	0.705	0.28894	N	0.893683	B;B;B	0.17038	0.011;0.02;0.009	B;B;B	0.19666	0.015;0.025;0.026	T	0.67098	-0.5756	10	0.08837	T	0.75	-5.1791	9.0508	0.36374	0.0:0.1064:0.0:0.8936	.	28;153;153	Q8IWK6-3;Q8IWK6-2;Q8IWK6	.;.;GP125_HUMAN	S	153	ENSP00000334952:T153S;ENSP00000421006:T153S	ENSP00000334952:T153S	T	-	1	0	GPR125	22065603	0.900000	0.30661	1.000000	0.80357	0.889000	0.51656	0.531000	0.23052	2.323000	0.78572	0.528000	0.53228	ACC	GPR125	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000152990		0.363	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	175	0.57	1	T			22456505	22456505	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	89	41.18	63	SNP	1.000	A
GPR156	165829	genome.wustl.edu	37	3	119886428	119886428	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:119886428G>A	ENST00000464295.1	-	10	2341	c.1896C>T	c.(1894-1896)caC>caT	p.H632H	GPR156_ENST00000461057.1_Silent_p.H628H|GPR156_ENST00000315843.3_Silent_p.H632H			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	632						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GTAGCCTGCTGTGTGCCCCAG	0.592																																						dbGAP											0													51.0	51.0	51.0					3																	119886428		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1896C>T	3.37:g.119886428G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.H632	ENST00000464295.1	37	c.1896	CCDS2997.1	3																																																																																			GPR156	-	NULL	ENSG00000175697		0.592	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	72	0.00	0	G	NM_153002		119886428	119886428	-1	no_errors	ENST00000315843	ensembl	human	known	69_37n	silent	43	45.57	36	SNP	0.000	A
GPR161	23432	genome.wustl.edu	37	1	168054868	168054869	+	Frame_Shift_Ins	INS	-	-	C	rs147976800|rs373775972	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:168054868_168054869insC	ENST00000367838.1	-	8	1803_1804	c.1490_1491insG	c.(1489-1491)ggcfs	p.G497fs	GPR161_ENST00000367835.1_Frame_Shift_Ins_p.G497fs|GPR161_ENST00000539777.1_Frame_Shift_Ins_p.G419fs|GPR161_ENST00000367836.1_Frame_Shift_Ins_p.G365fs|GPR161_ENST00000546300.1_Frame_Shift_Ins_p.G383fs|GPR161_ENST00000537209.1_Frame_Shift_Ins_p.G517fs|GPR161_ENST00000271357.5_Frame_Shift_Ins_p.G497fs|GPR161_ENST00000361697.2_Frame_Shift_Ins_p.G497fs	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	497					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.G497fs*13(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCCCGAAGCCGCCCCCCGGGAC	0.584																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1491dupG	1.37:g.168054874_168054874dupC	ENSP00000356812:p.Gly497fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.G518fs	ENST00000367838.1	37	c.1551_1550	CCDS1268.1	1																																																																																			GPR161	-	NULL	ENSG00000143147		0.584	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	35	0.00	0	-	NM_007369		168054868	168054869	-1	no_errors	ENST00000537209	ensembl	human	known	69_37n	frame_shift_ins	78	17.89	17	INS	0.000:0.000	C
GPR173	54328	genome.wustl.edu	37	X	53105960	53105960	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:53105960C>A	ENST00000332582.4	+	2	648	c.157C>A	c.(157-159)Ctg>Atg	p.L53M		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	53					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GGAGCGTGCCCTGCACAAGGC	0.597																																						dbGAP											0													107.0	73.0	84.0					X																	53105960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.157C>A	X.37:g.53105960C>A	ENSP00000331600:p.Leu53Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0A5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.L53M	ENST00000332582.4	37	c.157	CCDS14349.1	X	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582927	0.46006	.	.	ENSG00000184194	ENST00000332582	T	0.50001	0.76	4.02	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.57184	0.2036	L	0.59436	1.845	0.48135	D	0.99959	D	0.89917	1.0	D	0.97110	1.0	T	0.56655	-0.7943	10	0.87932	D	0	-3.5189	4.4816	0.11769	0.0:0.5634:0.0:0.4366	.	53	Q9NS66	GP173_HUMAN	M	53	ENSP00000331600:L53M	ENSP00000331600:L53M	L	+	1	2	GPR173	53122685	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.982000	0.29539	0.737000	0.32582	0.529000	0.55759	CTG	GPR173	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184194		0.597	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	18	0.00	0	C	NM_018969		53105960	53105960	+1	no_errors	ENST00000332582	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	1.000	A
GPR3	2827	genome.wustl.edu	37	1	27721269	27721269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:27721269C>T	ENST00000374024.3	+	2	1066	c.967C>T	c.(967-969)Cga>Tga	p.R323*		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	323					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		GATCCCCTTCCGATCCCGCTC	0.522																																						dbGAP											0													154.0	146.0	149.0					1																	27721269		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.967C>T	1.37:g.27721269C>T	ENSP00000363136:p.Arg323*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K570	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_7TM_GPCR_Rhodpsn	p.R323*	ENST00000374024.3	37	c.967	CCDS303.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595874	0.86953	.	.	ENSG00000181773	ENST00000374024	.	.	.	5.93	4.97	0.65823	.	129.698000	0.00166	N	0.000005	.	.	.	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3225	0.49430	0.141:0.7229:0.1361:0.0	.	.	.	.	X	323	.	ENSP00000363136:R323X	R	+	1	2	GPR3	27593856	0.002000	0.14202	0.996000	0.52242	0.980000	0.70556	0.101000	0.15251	2.815000	0.96918	0.561000	0.74099	CGA	GPR3	-	NULL	ENSG00000181773		0.522	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR3	HGNC	protein_coding	OTTHUMT00000009522.1	100	0.00	0	C	NM_005281		27721269	27721269	+1	no_errors	ENST00000374024	ensembl	human	known	69_37n	nonsense	59	45.37	49	SNP	0.998	T
GPR37	2861	genome.wustl.edu	37	7	124404569	124404569	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:124404569C>A	ENST00000303921.2	-	1	1112	c.462G>T	c.(460-462)aaG>aaT	p.K154N		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	154					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTGGGACCCTTCTCTTCCT	0.602																																						dbGAP											0													65.0	76.0	72.0					7																	124404569		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.462G>T	7.37:g.124404569C>A	ENSP00000306449:p.Lys154Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K154N	ENST00000303921.2	37	c.462	CCDS5792.1	7	.	.	.	.	.	.	.	.	.	.	C	7.931	0.740631	0.15642	.	.	ENSG00000170775	ENST00000303921	T	0.08896	3.04	5.25	2.49	0.30216	.	0.605905	0.16538	N	0.210085	T	0.05686	0.0149	N	0.24115	0.695	0.09310	N	1	B	0.23735	0.09	B	0.24155	0.051	T	0.34378	-0.9831	10	0.40728	T	0.16	-10.5203	6.7705	0.23591	0.0:0.7207:0.0:0.2793	.	154	O15354	GPR37_HUMAN	N	154	ENSP00000306449:K154N	ENSP00000306449:K154N	K	-	3	2	GPR37	124191805	0.000000	0.05858	0.005000	0.12908	0.199000	0.23934	-0.098000	0.11024	0.906000	0.36621	0.655000	0.94253	AAG	GPR37	-	NULL	ENSG00000170775		0.602	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	75	0.00	0	C	NM_005302		124404569	124404569	-1	no_errors	ENST00000303921	ensembl	human	known	69_37n	missense	42	36.36	24	SNP	0.003	A
GPR37L1	9283	genome.wustl.edu	37	1	202092540	202092540	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:202092540C>T	ENST00000367282.5	+	1	555	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	150					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGCAACCTGTCGGTCATGTGC	0.572																																						dbGAP											0													181.0	132.0	149.0					1																	202092540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.449C>T	1.37:g.202092540C>T	ENSP00000356251:p.Ser150Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S150L	ENST00000367282.5	37	c.449	CCDS1420.1	1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863847	0.71949	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.62364	0.03	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.225948	0.38005	N	0.001841	T	0.41119	0.1145	N	0.05124	-0.11	0.58432	D	0.999999	B	0.16166	0.016	B	0.20767	0.031	T	0.35599	-0.9782	10	0.08837	T	0.75	-10.8743	17.9179	0.88957	0.0:1.0:0.0:0.0	.	150	O60883	ETBR2_HUMAN	L	17;150	ENSP00000356251:S150L	ENSP00000356251:S150L	S	+	2	0	GPR37L1	200359163	1.000000	0.71417	0.993000	0.49108	0.915000	0.54546	7.811000	0.86092	2.310000	0.77875	0.462000	0.41574	TCG	GPR37L1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170075		0.572	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37L1	HGNC	protein_coding	OTTHUMT00000087496.2	63	0.00	0	C	NM_004767		202092540	202092540	+1	no_errors	ENST00000367282	ensembl	human	known	69_37n	missense	76	24.00	24	SNP	0.999	T
GPR55	9290	genome.wustl.edu	37	2	231775234	231775234	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:231775234C>T	ENST00000392040.1	-	2	636	c.444G>A	c.(442-444)ctG>ctA	p.L148L	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Silent_p.L148L	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	148					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CGGTCCACACCAGGACCCAGA	0.542																																						dbGAP											0													72.0	74.0	74.0					2																	231775234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.444G>A	2.37:g.231775234C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N580	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.L148	ENST00000392040.1	37	c.444	CCDS2480.1	2																																																																																			GPR55	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000135898		0.542	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR55	HGNC	protein_coding	OTTHUMT00000332618.1	77	0.00	0	C	NM_005683		231775234	231775234	-1	no_errors	ENST00000392039	ensembl	human	known	69_37n	silent	55	49.07	53	SNP	1.000	T
GPR63	81491	genome.wustl.edu	37	6	97246395	97246395	+	Missense_Mutation	SNP	G	G	A	rs200612973		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:97246395G>A	ENST00000229955.3	-	2	1558	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	RP3-417O22.3_ENST00000442184.1_RNA|GPR63_ENST00000417980.1_Missense_Mutation_p.R405C	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	405						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GCACTAGGACGTATCCGTCGC	0.468																																						dbGAP											0													146.0	120.0	129.0					6																	97246395		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.1213C>T	6.37:g.97246395G>A	ENSP00000229955:p.Arg405Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJH3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.R405C	ENST00000229955.3	37	c.1213	CCDS5036.1	6	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259904	0.80246	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.61980	0.06;0.06;0.06	5.35	5.35	0.76521	.	0.071658	0.64402	D	0.000016	T	0.69079	0.3071	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.71731	-0.4504	10	0.87932	D	0	-9.8128	19.4212	0.94721	0.0:0.0:1.0:0.0	.	405	Q9BZJ6	GPR63_HUMAN	C	429;405;405;405	ENSP00000393170:R405C;ENSP00000229955:R405C;ENSP00000358273:R405C	ENSP00000229955:R405C	R	-	1	0	GPR63	97353116	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.420000	0.97426	2.675000	0.91044	0.650000	0.86243	CGT	GPR63	-	NULL	ENSG00000112218		0.468	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2	151	0.00	0	G			97246395	97246395	-1	no_errors	ENST00000229955	ensembl	human	known	69_37n	missense	93	41.51	66	SNP	1.000	A
GPR84	53831	genome.wustl.edu	37	12	54756569	54756569	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:54756569G>A	ENST00000551809.1	-	1	1702	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	GPR84_ENST00000267015.3_Missense_Mutation_p.A356V|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GGTGAGGTTGGCAGCAAGCAT	0.552																																						dbGAP											0													137.0	146.0	143.0					12																	54756569		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1067C>T	12.37:g.54756569G>A	ENSP00000450310:p.Ala356Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B6V9G7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.A356V	ENST00000551809.1	37	c.1067	CCDS8878.1	12	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213325	0.79352	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.35048	1.33;1.33	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.50922	0.1644	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.29212	-1.0019	10	0.20519	T	0.43	-18.3325	16.6155	0.84915	0.0:0.0:1.0:0.0	.	356	Q9NQS5	GPR84_HUMAN	V	356	ENSP00000267015:A356V;ENSP00000450310:A356V	ENSP00000267015:A356V	A	-	2	0	GPR84	53042836	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.880000	0.92407	2.602000	0.87976	0.655000	0.94253	GCC	GPR84	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000139572		0.552	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1	167	0.60	1	G			54756569	54756569	-1	no_errors	ENST00000267015	ensembl	human	known	69_37n	missense	118	50.83	122	SNP	1.000	A
GPR87	53836	genome.wustl.edu	37	3	151012735	151012735	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:151012735T>C	ENST00000260843.4	-	3	763	c.299A>G	c.(298-300)cAt>cGt	p.H100R	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	100					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCTGCATCATGGACTATTCG	0.378																																						dbGAP											0													134.0	133.0	134.0					3																	151012735		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.299A>G	3.37:g.151012735T>C	ENSP00000260843:p.His100Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor,prints_UDPG_rcpt	p.H100R	ENST00000260843.4	37	c.299	CCDS3157.1	3	.	.	.	.	.	.	.	.	.	.	T	8.317	0.823505	0.16678	.	.	ENSG00000138271	ENST00000260843	T	0.71579	-0.58	5.31	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.453747	0.23821	N	0.044224	T	0.51092	0.1654	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48269	-0.9050	10	0.56958	D	0.05	-4.1827	9.4392	0.38657	0.0:0.1581:0.0:0.8419	.	100	Q9BY21	GPR87_HUMAN	R	100	ENSP00000260843:H100R	ENSP00000260843:H100R	H	-	2	0	GPR87	152495425	0.976000	0.34144	0.349000	0.25694	0.781000	0.44180	2.137000	0.42130	0.967000	0.38186	0.533000	0.62120	CAT	GPR87	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2_purnocptor	ENSG00000138271		0.378	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR87	HGNC	protein_coding	OTTHUMT00000357788.1	242	0.00	0	T			151012735	151012735	-1	no_errors	ENST00000260843	ensembl	human	known	69_37n	missense	138	36.11	78	SNP	0.086	C
GPR98	84059	genome.wustl.edu	37	5	89992953	89992953	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:89992953A>G	ENST00000405460.2	+	34	8241	c.8145A>G	c.(8143-8145)atA>atG	p.I2715M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2715	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATCTGTCATAGGTCATGAAG	0.373																																						dbGAP											0													143.0	133.0	136.0					5																	89992953		1857	4104	5961	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8145A>G	5.37:g.89992953A>G	ENSP00000384582:p.Ile2715Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.I2715M	ENST00000405460.2	37	c.8145	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.67|18.67	3.673385|3.673385	0.67928|0.67928	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.29655|.	1.56|.	5.8|5.8	1.7|1.7	0.24286|0.24286	.|.	0.042861|.	0.85682|.	D|.	0.000000|.	T|.	0.61022|.	0.2314|.	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.77557|.	0.984;0.99|.	T|.	0.56019|.	-0.8048|.	10|.	0.87932|.	D|.	0|.	.|.	6.0995|6.0995	0.20039|0.20039	0.3446:0.1102:0.0:0.5452|0.3446:0.1102:0.0:0.5452	.|.	2715;2715|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	M|W	2715|281	ENSP00000384582:I2715M|.	ENSP00000296619:I2715M|.	I|X	+|+	3|2	3|0	GPR98|GPR98	90028709|90028709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.473000|1.473000	0.35387|0.35387	0.420000|0.420000	0.25954|0.25954	0.383000|0.383000	0.25322|0.25322	ATA|TAG	GPR98	-	NULL	ENSG00000164199		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	233	0.00	0	A	NM_032119		89992953	89992953	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	134	36.79	78	SNP	1.000	G
GPR98	84059	genome.wustl.edu	37	5	90106266	90106267	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:90106266_90106267insT	ENST00000405460.2	+	74	15285_15286	c.15189_15190insT	c.(15190-15192)tttfs	p.F5064fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.F725fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5064	Calx-beta 33. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGGGAACTGTTTTTTCAAAA	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15195dupT	5.37:g.90106272_90106272dupT	ENSP00000384582:p.Phe5064fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Q5065fs	ENST00000405460.2	37	c.15189_15190	CCDS47246.1	5																																																																																			GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.356	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	138	0.00	0	-	NM_032119		90106266	90106267	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	frame_shift_ins	54	41.30	38	INS	0.421:0.421	T
GPRASP1	9737	genome.wustl.edu	37	X	101910501	101910501	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:101910501delT	ENST00000361600.5	+	5	2461	c.1660delT	c.(1660-1662)tttfs	p.F554fs	GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.F554fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.F554fs|GPRASP1_ENST00000537097.1_Frame_Shift_Del_p.F554fs	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	554	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGTCCCTGGTTTTGGTCTGG	0.527																																						dbGAP											0													132.0	130.0	131.0					X																	101910501		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1660delT	X.37:g.101910501delT	ENSP00000355146:p.Phe554fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43168|Q96LA1	Frame_Shift_Del	DEL	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.W555fs	ENST00000361600.5	37	c.1660	CCDS35352.1	X																																																																																			GPRASP1	-	NULL	ENSG00000198932		0.527	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	383	0.00	0	T	NM_014710		101910501	101910501	+1	no_errors	ENST00000361600	ensembl	human	known	69_37n	frame_shift_del	183	35.12	105	DEL	0.736	-
GPRASP1	9737	genome.wustl.edu	37	X	101911193	101911193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:101911193G>A	ENST00000361600.5	+	5	3153	c.2352G>A	c.(2350-2352)tgG>tgA	p.W784*	GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.W784*|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.W784*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.W784*	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	784	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTGGTTCTGGGCTGGAGAAG	0.517																																						dbGAP											0													100.0	103.0	102.0					X																	101911193		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2352G>A	X.37:g.101911193G>A	ENSP00000355146:p.Trp784*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43168|Q96LA1	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.W784*	ENST00000361600.5	37	c.2352	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	46	12.697075	0.99689	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.99	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.3225	3.5734	0.07925	0.1543:0.2645:0.5813:0.0	.	.	.	.	X	784	.	ENSP00000355146:W784X	W	+	3	0	GPRASP1	101797849	0.997000	0.39634	0.427000	0.26684	0.800000	0.45204	2.154000	0.42291	0.613000	0.30089	0.287000	0.19450	TGG	GPRASP1	-	NULL	ENSG00000198932		0.517	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	522	0.00	0	G	NM_014710		101911193	101911193	+1	no_errors	ENST00000361600	ensembl	human	known	69_37n	nonsense	270	41.72	194	SNP	0.722	A
GPX8	493869	genome.wustl.edu	37	5	54460112	54460113	+	3'UTR	INS	-	-	T	rs552883936		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:54460112_54460113insT	ENST00000503787.1	+	0	771_772				CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000296734.6_3'UTR|GPX8_ENST00000515370.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000334206.5_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)						response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CATTTTAAACAttttttttttg	0.396																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.*67->T	5.37:g.54460122_54460122dupT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000503787.1	37	NULL	CCDS34156.1	5																																																																																			GPX8	-	-	ENSG00000164294		0.396	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX8	HGNC	protein_coding	OTTHUMT00000369717.1	34	0.00	0	-	NM_001008397		54460112	54460113	+1	no_errors	ENST00000506123	ensembl	human	known	69_37n	rna	30	37.50	18	INS	0.000:0.000	T
GRHL1	29841	genome.wustl.edu	37	2	10132201	10132201	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:10132201T>C	ENST00000324907.9	+	11	1524	c.1388T>C	c.(1387-1389)tTc>tCc	p.F463S	GRHL1_ENST00000324883.5_Missense_Mutation_p.F274S|GRHL1_ENST00000405379.2_Missense_Mutation_p.F463S	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	463					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TTCAAACCCTTCATTGATCTC	0.448																																						dbGAP											0													120.0	103.0	109.0					2																	10132201		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1388T>C	2.37:g.10132201T>C	ENSP00000324693:p.Phe463Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	pfam_CP2	p.F463S	ENST00000324907.9	37	c.1388	CCDS33144.2	2	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837560	0.32513	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.16897	2.78;2.31;2.78	6.03	6.03	0.97812	.	0.093301	0.64402	D	0.000001	T	0.15046	0.0363	N	0.25647	0.755	0.50813	D	0.999893	P;B	0.39060	0.657;0.147	B;B	0.36922	0.236;0.084	T	0.02184	-1.1199	10	0.49607	T	0.09	-21.0368	16.6127	0.84892	0.0:0.0:0.0:1.0	.	274;463	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	S	463;274;463	ENSP00000384209:F463S;ENSP00000324494:F274S;ENSP00000324693:F463S	ENSP00000324494:F274S	F	+	2	0	GRHL1	10049652	0.998000	0.40836	0.931000	0.37212	0.059000	0.15707	6.279000	0.72620	2.322000	0.78497	0.529000	0.55759	TTC	GRHL1	-	NULL	ENSG00000134317		0.448	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL1	HGNC	protein_coding	OTTHUMT00000323543.2	57	0.00	0	T	NM_014552		10132201	10132201	+1	no_errors	ENST00000324907	ensembl	human	known	69_37n	missense	42	38.24	26	SNP	0.992	C
GRID2	2895	genome.wustl.edu	37	4	94138073	94138073	+	Intron	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:94138073A>G	ENST00000282020.4	+	6	1221				GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GTATATTATAAATGACAGGAT	0.388																																						dbGAP											0													94.0	99.0	97.0					4																	94138073		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.963+11A>G	4.37:g.94138073A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	RNA	SNP	-	NULL	ENST00000282020.4	37	NULL	CCDS3637.1	4																																																																																			GRID2	-	-	ENSG00000152208		0.388	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	202	0.00	0	A			94138073	94138073	+1	no_errors	ENST00000505687	ensembl	human	known	69_37n	rna	98	44.00	77	SNP	0.000	G
GRIK1	2897	genome.wustl.edu	37	21	30971250	30971250	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:30971250C>A	ENST00000399907.1	-	8	1517	c.1106G>T	c.(1105-1107)tGg>tTg	p.W369L	GRIK1_ENST00000472429.1_5'UTR|BACH1_ENST00000462262.1_Intron|GRIK1_ENST00000389124.2_Missense_Mutation_p.W369L|GRIK1_ENST00000399913.1_Missense_Mutation_p.W369L|GRIK1_ENST00000309434.7_Missense_Mutation_p.W371L|GRIK1_ENST00000399909.1_Missense_Mutation_p.W369L|GRIK1_ENST00000399914.1_Missense_Mutation_p.W369L|GRIK1_ENST00000327783.4_Missense_Mutation_p.W369L|GRIK1_ENST00000389125.3_Missense_Mutation_p.W369L|GRIK1_ENST00000535441.1_Missense_Mutation_p.W371L|GRIK1-AS2_ENST00000333765.4_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	369					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CAAGCCATCCCACCGGGCCTG	0.378																																						dbGAP											0													83.0	82.0	82.0					21																	30971250		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1106G>T	21.37:g.30971250C>A	ENSP00000382791:p.Trp369Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W371L	ENST00000399907.1	37	c.1112	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722352	0.48728	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	4.83	3.87	0.44632	Extracellular ligand-binding receptor (1);	0.057574	0.85682	D	0.000000	T	0.77532	0.4144	L	0.45698	1.435	0.80722	D	1	B;B;B;B;B;B	0.13594	0.008;0.008;0.0;0.008;0.004;0.003	B;B;B;B;B;B	0.15052	0.012;0.012;0.001;0.012;0.007;0.007	T	0.72975	-0.4128	10	0.32370	T	0.25	.	14.7965	0.69881	0.1444:0.8556:0.0:0.0	.	369;369;369;369;369;369	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	L	369;369;369;369;371;313;369;369;369;371	ENSP00000327687:W369L;ENSP00000373777:W369L;ENSP00000382797:W369L;ENSP00000382798:W369L;ENSP00000446326:W371L;ENSP00000373776:W369L;ENSP00000382791:W369L;ENSP00000382793:W369L;ENSP00000311646:W371L	ENSP00000311646:W371L	W	-	2	0	GRIK1	29893121	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.516000	0.67055	2.678000	0.91216	0.655000	0.94253	TGG	GRIK1	-	pfam_ANF_lig-bd_rcpt	ENSG00000171189		0.378	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	234	0.00	0	C			30971250	30971250	-1	no_errors	ENST00000535441	ensembl	human	known	69_37n	missense	121	39.20	78	SNP	1.000	A
GRIN2D	2906	genome.wustl.edu	37	19	48945575	48945575	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:48945575A>G	ENST00000263269.3	+	12	2697	c.2609A>G	c.(2608-2610)tAc>tGc	p.Y870C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	870					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACCTGGTGTACTGGCGCCTG	0.652																																						dbGAP											0													96.0	98.0	97.0					19																	48945575		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2609A>G	19.37:g.48945575A>G	ENSP00000263269:p.Tyr870Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y870C	ENST00000263269.3	37	c.2609	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	a	16.86	3.238733	0.58995	.	.	ENSG00000105464	ENST00000263269	T	0.48201	0.82	3.85	2.83	0.33086	.	0.074312	0.56097	N	0.000035	T	0.38746	0.1052	L	0.48362	1.52	0.48236	D	0.999613	B	0.18863	0.031	B	0.18263	0.021	T	0.29671	-1.0004	10	0.87932	D	0	.	8.4353	0.32784	0.9019:0.0:0.0981:0.0	.	870	O15399	NMDE4_HUMAN	C	870	ENSP00000263269:Y870C	ENSP00000263269:Y870C	Y	+	2	0	GRIN2D	53637387	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.852000	0.69488	0.660000	0.30964	-0.484000	0.04775	TAC	GRIN2D	-	NULL	ENSG00000105464		0.652	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	62	0.00	0	A			48945575	48945575	+1	no_errors	ENST00000263269	ensembl	human	known	69_37n	missense	27	46.00	23	SNP	1.000	G
GRIP2	80852	genome.wustl.edu	37	3	14537940	14537940	+	RNA	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:14537940G>T	ENST00000273083.3	-	0	2872							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						gcaTCTCCAAGGGTGTAGGCA	0.657																																						dbGAP											0													37.0	39.0	38.0					3																	14537940		2029	4167	6196	-	-	-			0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14537940G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.657	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	17	0.00	0	G	NM_001080423		14537940	14537940	-1	no_errors	ENST00000273083	ensembl	human	known	69_37n	rna	10	23.08	3	SNP	0.142	T
GRM8	2918	genome.wustl.edu	37	7	126173577	126173577	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:126173577T>C	ENST00000339582.2	-	9	2667	c.1859A>G	c.(1858-1860)gAa>gGa	p.E620G	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E620G|GRM8_ENST00000444921.2_Missense_Mutation_p.E620G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	620					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTAACTAAGTTCGCGTCCTGA	0.458										HNSCC(24;0.065)																												dbGAP											0													113.0	110.0	111.0					7																	126173577		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1859A>G	7.37:g.126173577T>C	ENSP00000344173:p.Glu620Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.E620G	ENST00000339582.2	37	c.1859	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261781	0.80358	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89050	-2.46;-2.46;-2.46	5.73	5.73	0.89815	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.95716	0.8762	10	0.87932	D	0	.	15.2088	0.73202	0.0:0.0:0.0:1.0	.	620;620	O00222-2;O00222	.;GRM8_HUMAN	G	620	ENSP00000344173:E620G;ENSP00000409790:E620G;ENSP00000351142:E620G	ENSP00000344173:E620G	E	-	2	0	GRM8	125960813	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	8.032000	0.88838	2.199000	0.70637	0.523000	0.50628	GAA	GRM8	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000179603		0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	130	0.00	0	T			126173577	126173577	-1	no_errors	ENST00000339582	ensembl	human	known	69_37n	missense	81	34.15	42	SNP	1.000	C
GSTK1	373156	genome.wustl.edu	37	7	142962294	142962294	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:142962294G>A	ENST00000358406.5	+	5	455				GSTK1_ENST00000443571.2_Intron|GSTK1_ENST00000479303.1_Missense_Mutation_p.V165I|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000409500.3_Intron	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1						epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGGATCTACTGTCCTCCCAGT	0.612																																						dbGAP											0													91.0	100.0	97.0					7																	142962294		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.385-60G>A	7.37:g.142962294G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	p.V165I	ENST00000358406.5	37	c.493	CCDS5877.1	7	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.512200	0.00984	.	.	ENSG00000197448	ENST00000479303	.	.	.	2.48	-0.807	0.10872	.	4.761200	0.01347	U	0.011775	T	0.26448	0.0646	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10154	-1.0642	7	.	.	.	8.8969	5.9649	0.19320	0.4745:0.0:0.5255:0.0	.	165	Q9Y2Q3-2	.	I	165	.	.	V	+	1	0	GSTK1	142672416	0.002000	0.14202	0.002000	0.10522	0.016000	0.09150	1.665000	0.37449	-0.154000	0.11118	-0.266000	0.10368	GTC	GSTK1	-	NULL	ENSG00000197448		0.612	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	HGNC	protein_coding	OTTHUMT00000327091.1	54	0.00	0	G	NM_015917		142962294	142962294	+1	no_errors	ENST00000479303	ensembl	human	known	69_37n	missense	30	29.55	13	SNP	0.001	A
GSX1	219409	genome.wustl.edu	37	13	28367973	28367973	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:28367973G>A	ENST00000302945.2	+	2	731	c.683G>A	c.(682-684)gGc>gAc	p.G228D		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	228					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		gCACCGCAAGGCTGCAAGTGC	0.647																																						dbGAP											0													32.0	31.0	32.0					13																	28367973		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.683G>A	13.37:g.28367973G>A	ENSP00000304331:p.Gly228Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UD62	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.G228D	ENST00000302945.2	37	c.683	CCDS9326.1	13	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311240	0.40895	.	.	ENSG00000169840	ENST00000302945	D	0.92299	-3.01	4.69	2.73	0.32206	.	0.622862	0.16442	N	0.214275	D	0.86883	0.6040	L	0.32530	0.975	0.42674	D	0.993526	B	0.20052	0.041	B	0.17098	0.017	T	0.81145	-0.1066	10	0.30854	T	0.27	.	13.8185	0.63306	0.0:0.2927:0.7073:0.0	.	228	Q9H4S2	GSX1_HUMAN	D	228	ENSP00000304331:G228D	ENSP00000304331:G228D	G	+	2	0	GSX1	27265973	0.999000	0.42202	0.980000	0.43619	0.912000	0.54170	1.898000	0.39809	0.898000	0.36418	0.561000	0.74099	GGC	GSX1	-	NULL	ENSG00000169840		0.647	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSX1	HGNC	protein_coding	OTTHUMT00000044309.2	33	0.00	0	G	NM_145657		28367973	28367973	+1	no_errors	ENST00000302945	ensembl	human	known	69_37n	missense	26	46.94	23	SNP	0.998	A
GTF3C1	2975	genome.wustl.edu	37	16	27475972	27475972	+	Frame_Shift_Del	DEL	G	G	-	rs200275527	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:27475972delG	ENST00000356183.4	-	34	5556	c.5541delC	c.(5539-5541)cccfs	p.P1847fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.P1847fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1847					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTGCCCCTCGGGGGGGCTGT	0.672																																						dbGAP											0													28.0	35.0	32.0					16																	27475972		2166	4246	6412	-	-	-	SO:0001589	frameshift_variant	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5541delC	16.37:g.27475972delG	ENSP00000348510:p.Pro1847fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Del	DEL	pfam_TFIIIC_Bblock-bd	p.E1848fs	ENST00000356183.4	37	c.5541	CCDS32414.1	16																																																																																			GTF3C1	-	NULL	ENSG00000077235		0.672	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	53	0.00	0	G	NM_001520		27475972	27475972	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	frame_shift_del	60	22.22	18	DEL	0.000	-
GTSE1	51512	genome.wustl.edu	37	22	46722424	46722424	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:46722424C>A	ENST00000454366.1	+	9	1809	c.1597C>A	c.(1597-1599)Ccc>Acc	p.P533T		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	514					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTTGCCCACACCCGCCAGCCG	0.657																																					GBM(153;542 1915 12487 29016 50495)	dbGAP											0													46.0	42.0	44.0					22																	46722424		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1597C>A	22.37:g.46722424C>A	ENSP00000415430:p.Pro533Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.P533T	ENST00000454366.1	37	c.1597	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327961	0.60743	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.60548	0.18	4.54	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.69735	0.3144	M	0.76328	2.33	0.49915	D	0.999835	D;D	0.63046	0.992;0.961	P;P	0.58130	0.833;0.659	T	0.74408	-0.3675	10	0.72032	D	0.01	-21.8739	12.6258	0.56628	0.0:0.8323:0.1677:0.0	.	514;493	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	T	533;493	ENSP00000415430:P533T	ENSP00000354634:P493T	P	+	1	0	GTSE1	45101088	0.877000	0.30153	0.398000	0.26321	0.105000	0.19272	2.253000	0.43205	1.210000	0.43336	-0.440000	0.05779	CCC	GTSE1	-	NULL	ENSG00000075218		0.657	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	30	0.00	0	C	NM_016426		46722424	46722424	+1	no_errors	ENST00000454366	ensembl	human	known	69_37n	missense	25	41.86	18	SNP	0.796	A
GUCY2F	2986	genome.wustl.edu	37	X	108696852	108696852	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:108696852A>G	ENST00000218006.2	-	4	1560	c.1269T>C	c.(1267-1269)acT>acC	p.T423T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	423					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCATGTCCACAGTGTAGGTGC	0.473																																						dbGAP											0													185.0	130.0	149.0					X																	108696852		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1269T>C	X.37:g.108696852A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJF1	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.T423	ENST00000218006.2	37	c.1269	CCDS14545.1	X																																																																																			GUCY2F	-	NULL	ENSG00000101890		0.473	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	301	0.00	0	A	NM_001522		108696852	108696852	-1	no_errors	ENST00000218006	ensembl	human	known	69_37n	silent	184	39.07	118	SNP	0.989	G
H2AFZ	3015	genome.wustl.edu	37	4	100870052	100870052	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:100870052G>A	ENST00000296417.5	-	4	458	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	RP11-15B17.1_ENST00000514624.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000501976.2_RNA|DNAJB14_ENST00000471738.1_5'Flank|H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	81					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		GGGGTAATACGCTTTACCTTT	0.418											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													93.0	88.0	90.0					4																	100870052		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.241C>T	4.37:g.100870052G>A	ENSP00000296417:p.Arg81Cys	Somatic	1354	WXS	Illumina GAIIx	Phase_IV	B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R81C	ENST00000296417.5	37	c.241	CCDS3654.1	4	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329373	0.60743	.	.	ENSG00000164032	ENST00000296417	T	0.69561	-0.41	4.74	4.74	0.60224	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	H	0.97315	3.98	0.80722	D	1	B	0.25312	0.123	B	0.16722	0.016	T	0.82824	-0.0266	10	0.62326	D	0.03	-12.0973	17.7576	0.88453	0.0:0.0:1.0:0.0	.	81	P0C0S5	H2AZ_HUMAN	C	81	ENSP00000296417:R81C	ENSP00000296417:R81C	R	-	1	0	H2AFZ	101089075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.187000	0.69744	0.655000	0.94253	CGT	H2AFZ	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000164032		0.418	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	H2AFZ	HGNC	protein_coding	OTTHUMT00000253695.1	168	0.00	0	G	NM_002106		100870052	100870052	-1	no_errors	ENST00000296417	ensembl	human	known	69_37n	missense	73	37.07	43	SNP	1.000	A
H2BFM	286436	genome.wustl.edu	37	X	103294815	103294815	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:103294815A>G	ENST00000355016.3	+	1	300	c.272A>G	c.(271-273)gAc>gGc	p.D91G	H2BFM_ENST00000243297.5_Missense_Mutation_p.D194G	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	91						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						ATGATCCATGACATATTGGAC	0.602																																						dbGAP											0													28.0	29.0	29.0					X																	103294815		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.272A>G	X.37:g.103294815A>G	ENSP00000347119:p.Asp91Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP82	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.D194G	ENST00000355016.3	37	c.581	CCDS55468.1	X	.	.	.	.	.	.	.	.	.	.	.	16.34	3.095922	0.56075	.	.	ENSG00000101812	ENST00000243297;ENST00000355016	T;T	0.28895	1.59;1.59	2.64	2.64	0.31445	Histone-fold (2);Histone core (1);	0.138191	0.22873	U	0.054607	T	0.52549	0.1741	M	0.89163	3.01	0.43879	D	0.996492	D	0.61697	0.99	P	0.59595	0.86	T	0.58578	-0.7612	10	0.87932	D	0	.	8.3237	0.32145	1.0:0.0:0.0:0.0	.	194	P0C1H6	H2BFM_HUMAN	G	194;91	ENSP00000243297:D194G;ENSP00000347119:D91G	ENSP00000243297:D194G	D	+	2	0	H2BFM	103181471	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	4.556000	0.60775	1.127000	0.42034	0.412000	0.27726	GAC	H2BFM	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000101812		0.602	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	H2BFM	HGNC	protein_coding	OTTHUMT00000057758.2	28	0.00	0	A	XM_210048		103294815	103294815	+1	no_errors	ENST00000243297	ensembl	human	known	69_37n	missense	11	56.00	14	SNP	1.000	G
HAND2	9464	genome.wustl.edu	37	4	174450057	174450057	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:174450057G>A	ENST00000359562.4	-	1	1323	c.384C>T	c.(382-384)aaC>aaT	p.N128N	HAND2-AS1_ENST00000512246.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	128	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CGGCGGGTACGTTGGGGATGC	0.642																																						dbGAP											0													151.0	143.0	146.0					4																	174450057		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.384C>T	4.37:g.174450057G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B6ECG9|O95300|O95301|P97833|Q494T1	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd	p.R3C	ENST00000359562.4	37	c.7	CCDS3819.1	4																																																																																			HAND2	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd	ENSG00000164107		0.642	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND2	HGNC	protein_coding	OTTHUMT00000362241.3	32	0.00	0	G			174450057	174450057	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000503024	ensembl	human	known	69_37n	missense	26	50.94	27	SNP	1.000	A
HAO2	51179	genome.wustl.edu	37	1	119936466	119936466	+	3'UTR	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:119936466A>G	ENST00000325945.3	+	0	1132				HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000361035.4_3'UTR	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)						fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GGCTGTAAGAAAAAAGGGCCA	0.493																																						dbGAP											0													139.0	129.0	133.0					1																	119936466		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.*3A>G	1.37:g.119936466A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TU86|Q5QP00|Q9UJS6	RNA	SNP	-	NULL	ENST00000325945.3	37	NULL	CCDS901.1	1																																																																																			HAO2	-	-	ENSG00000116882		0.493	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO2	HGNC	protein_coding	OTTHUMT00000034984.1	204	0.00	0	A	NM_001005783		119936466	119936466	+1	no_errors	ENST00000482991	ensembl	human	putative	69_37n	rna	114	39.68	75	SNP	0.037	G
HCK	3055	genome.wustl.edu	37	20	30659555	30659555	+	Silent	SNP	C	C	T	rs112610391	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:30659555C>T	ENST00000520553.1	+	2	336	c.90C>T	c.(88-90)taC>taT	p.Y30Y	HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000538448.1_Silent_p.Y30Y|HCK_ENST00000518730.1_Silent_p.Y30Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000534862.1_Silent_p.Y31Y	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	51					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GTCCTGTGTACGTGCCGGATC	0.582																																						dbGAP											0													94.0	75.0	81.0					20																	30659555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.90C>T	20.37:g.30659555C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.Y51	ENST00000520553.1	37	c.153	CCDS54455.1	20																																																																																			HCK	-	NULL	ENSG00000101336		0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1	34	0.00	0	C			30659555	30659555	+1	no_errors	ENST00000375852	ensembl	human	known	69_37n	silent	44	36.23	25	SNP	0.165	T
HDLBP	3069	genome.wustl.edu	37	2	242195648	242195648	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:242195648T>C	ENST00000391975.1	-	7	1051	c.824A>G	c.(823-825)gAa>gGa	p.E275G	HDLBP_ENST00000310931.4_Missense_Mutation_p.E275G|HDLBP_ENST00000427183.2_Missense_Mutation_p.E311G|HDLBP_ENST00000391976.2_Missense_Mutation_p.E275G	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	275	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGCCAACTGTTCCTTCTCTCC	0.517																																						dbGAP											0													98.0	85.0	89.0					2																	242195648		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.824A>G	2.37:g.242195648T>C	ENSP00000375836:p.Glu275Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.E275G	ENST00000391975.1	37	c.824	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.116811|4.116811	0.77323|0.77323	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141	T;T;T;T|.	0.38240|.	1.15;1.15;1.15;1.15|.	6.13|6.13	6.13|6.13	0.99165|0.99165	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73984|0.73984	0.3657|0.3657	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.997;0.999|.	D;D;D|.	0.79108|.	0.99;0.974;0.992|.	T|T	0.72701|0.72701	-0.4214|-0.4214	10|5	0.66056|.	D|.	0.02|.	-29.714|-29.714	16.8061|16.8061	0.85666|0.85666	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	275;311;275|.	B2R5V9;E7EM71;Q00341|.	.;.;VIGLN_HUMAN|.	G|D	275;275;275;311|176	ENSP00000375836:E275G;ENSP00000375837:E275G;ENSP00000312042:E275G;ENSP00000399139:E311G|.	ENSP00000312042:E275G|.	E|N	-|-	2|1	0|0	HDLBP|HDLBP	241844321|241844321	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.164000|0.164000	0.22412|0.22412	7.929000|7.929000	0.87595|0.87595	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	GAA|AAC	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.517	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	86	0.00	0	T	NM_203346		242195648	242195648	-1	no_errors	ENST00000310931	ensembl	human	known	69_37n	missense	41	46.15	36	SNP	1.000	C
HEATR4	399671	genome.wustl.edu	37	14	73962066	73962066	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:73962066A>G	ENST00000553558.1	-	16	2972	c.2651T>C	c.(2650-2652)tTg>tCg	p.L884S	HEATR4_ENST00000560393.1_Missense_Mutation_p.L837S|C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.L884S	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	884										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTGTGTCAGCAAGTCCTTTTG	0.358																																						dbGAP											0													136.0	119.0	125.0					14																	73962066		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2651T>C	14.37:g.73962066A>G	ENSP00000450444:p.Leu884Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L884S	ENST00000553558.1	37	c.2651	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	A	15.65	2.897621	0.52121	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.25579	1.79	4.82	4.82	0.62117	.	0.000000	0.40302	N	0.001126	T	0.33847	0.0877	L	0.27053	0.805	0.25557	N	0.987025	D	0.76494	0.999	D	0.65773	0.938	T	0.09422	-1.0675	10	0.44086	T	0.13	-7.1065	12.0061	0.53259	1.0:0.0:0.0:0.0	.	884	Q86WZ0	HEAT4_HUMAN	S	884;837	ENSP00000450444:L884S	ENSP00000335447:L837S	L	-	2	0	HEATR4	73031819	1.000000	0.71417	0.992000	0.48379	0.476000	0.33039	4.695000	0.61767	2.029000	0.59856	0.459000	0.35465	TTG	HEATR4	-	NULL	ENSG00000187105		0.358	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	237	0.00	0	A	NM_203309		73962066	73962066	-1	no_errors	ENST00000334988	ensembl	human	known	69_37n	missense	108	45.18	89	SNP	0.985	G
HEATR6	63897	genome.wustl.edu	37	17	58133511	58133511	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:58133511delC	ENST00000184956.6	-	13	2183	c.2167delG	c.(2167-2169)gaafs	p.E723fs	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	723							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGATCTGCTTCCCCCATGCAC	0.433																																						dbGAP											0													162.0	141.0	148.0					17																	58133511		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2167delG	17.37:g.58133511delC	ENSP00000184956:p.Glu723fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.E723fs	ENST00000184956.6	37	c.2167	CCDS11623.1	17																																																																																			HEATR6	-	superfamily_ARM-type_fold	ENSG00000068097		0.433	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1	262	0.00	0	C	NM_022070		58133511	58133511	-1	no_errors	ENST00000184956	ensembl	human	known	69_37n	frame_shift_del	155	33.76	80	DEL	1.000	-
MROH2B	133558	genome.wustl.edu	37	5	41000851	41000852	+	Frame_Shift_Ins	INS	-	-	A	rs548836249	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:41000851_41000852insA	ENST00000399564.4	-	38	4728_4729	c.4278_4279insT	c.(4276-4281)tttgctfs	p.A1427fs	MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.A982fs	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1427																	ATTTCTTCAGCAAAAAAAATCT	0.46													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	17	0.00339457	0.0	0.0	5008	,	,		18514	0.001		0.0129	False		,,,				2504	0.0031					dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4279dupT	5.37:g.41000859_41000859dupA	ENSP00000382476:p.Ala1427fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.A1426fs	ENST00000399564.4	37	c.4279_4278	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.460	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	46	0.00	0	-	NM_173489		41000851	41000852	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	frame_shift_ins	21	46.15	18	INS	1.000:1.000	A
HECA	51696	genome.wustl.edu	37	6	139487510	139487510	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:139487510G>A	ENST00000367658.2	+	2	646	c.361G>A	c.(361-363)Gag>Aag	p.E121K	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	121					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTGCAACAACGAGCACTGCCC	0.627																																						dbGAP											0													92.0	82.0	86.0					6																	139487510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.361G>A	6.37:g.139487510G>A	ENSP00000356630:p.Glu121Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.E121K	ENST00000367658.2	37	c.361	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734678	0.89482	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.70472	-0.4862	9	0.66056	D	0.02	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	121	Q9UBI9	HDC_HUMAN	K	121	.	ENSP00000356630:E121K	E	+	1	0	HECA	139529203	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	9.166000	0.94766	2.767000	0.95098	0.655000	0.94253	GAG	HECA	-	NULL	ENSG00000112406		0.627	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	164	0.00	0	G	NM_016217		139487510	139487510	+1	no_errors	ENST00000367658	ensembl	human	known	69_37n	missense	111	38.12	69	SNP	1.000	A
HEG1	57493	genome.wustl.edu	37	3	124689579	124689579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:124689579C>A	ENST00000311127.4	-	17	4130	c.4063G>T	c.(4063-4065)Gga>Tga	p.G1355*		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1355					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGCCGTGATCCTGGCAGTCCA	0.463																																						dbGAP											0													112.0	109.0	110.0					3																	124689579		1896	4110	6006	-	-	-	SO:0001587	stop_gained	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.4063G>T	3.37:g.124689579C>A	ENSP00000311502:p.Gly1355*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX66|Q8NC40|Q9BSV0	Nonsense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.G1355*	ENST00000311127.4	37	c.4063	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.877933	0.97055	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	.	.	.	5.58	5.58	0.84498	.	0.000000	0.37857	U	0.001908	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5717	0.95423	0.0:1.0:0.0:0.0	.	.	.	.	X	1355;239	.	ENSP00000311502:G1355X	G	-	1	0	HEG1	126172269	1.000000	0.71417	0.913000	0.36048	0.992000	0.81027	7.277000	0.78572	2.644000	0.89710	0.655000	0.94253	GGA	HEG1	-	NULL	ENSG00000173706		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	37	0.00	0	C	XM_087386		124689579	124689579	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	nonsense	15	37.50	9	SNP	1.000	A
HELLS	3070	genome.wustl.edu	37	10	96333910	96333910	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:96333910G>A	ENST00000348459.5	+	8	776	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R224Q|HELLS_ENST00000394044.1_Missense_Mutation_p.R224Q|HELLS_ENST00000371332.4_Missense_Mutation_p.R224Q	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGAGTGATGCGATGGTACCAA	0.393																																						dbGAP											0													119.0	113.0	115.0					10																	96333910		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.671G>A	10.37:g.96333910G>A	ENSP00000239027:p.Arg224Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R224Q	ENST00000348459.5	37	c.671	CCDS7434.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.833298	0.97003	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000394044;ENST00000371332	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	5.82	5.82	0.92795	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.95513	0.8542	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.987;0.971;0.996;0.994;0.982	D	0.94460	0.7675	9	.	.	.	-10.7469	19.062	0.93097	0.0:0.0:1.0:0.0	.	208;224;224;224;224	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	Q	224	ENSP00000239027:R224Q;ENSP00000377609:R224Q;ENSP00000377608:R224Q;ENSP00000360383:R224Q	.	R	+	2	0	HELLS	96323900	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	9.827000	0.99397	2.739000	0.93911	0.650000	0.86243	CGA	HELLS	-	smart_Helicase_ATP-bd	ENSG00000119969		0.393	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1	244	0.00	0	G	NM_018063		96333910	96333910	+1	no_errors	ENST00000371332	ensembl	human	known	69_37n	missense	169	36.94	99	SNP	1.000	A
HELLS	3070	genome.wustl.edu	37	10	96354570	96354570	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:96354570C>T	ENST00000348459.5	+	19	2312	c.2207C>T	c.(2206-2208)gCa>gTa	p.A736V	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.A638V|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Missense_Mutation_p.A782V	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTGGAAAGAGCAGCTGCTAAA	0.363																																						dbGAP											0													105.0	96.0	99.0					10																	96354570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.2207C>T	10.37:g.96354570C>T	ENSP00000239027:p.Ala736Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A782V	ENST00000348459.5	37	c.2345	CCDS7434.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.489068	0.96323	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.99	5.99	0.97316	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	M	0.93016	3.37	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.996;0.998;0.997;0.999	D	0.98474	1.0602	10	0.87932	D	0	-20.5799	19.4659	0.94939	0.0:1.0:0.0:0.0	.	720;707;606;638;736	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	V	736;638;782;173	ENSP00000239027:A736V;ENSP00000377609:A638V;ENSP00000360383:A782V;ENSP00000360378:A173V	ENSP00000239027:A736V	A	+	2	0	HELLS	96344560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GCA	HELLS	-	pfscan_Helicase_C	ENSG00000119969		0.363	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1	135	0.00	0	C	NM_018063		96354570	96354570	+1	no_errors	ENST00000371332	ensembl	human	known	69_37n	missense	101	31.76	47	SNP	1.000	T
HERC1	8925	genome.wustl.edu	37	15	63991054	63991057	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TCAA	TCAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:63991054_63991057delTCAA	ENST00000443617.2	-	26	4862_4865	c.4775_4778delTTGA	c.(4774-4779)attgaafs	p.IE1592fs	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1592					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TACAACATTTTCAATCAAAGTGTG	0.451																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4775_4778delTTGA	15.37:g.63991058_63991061delTCAA	ENSP00000390158:p.Ile1592fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Frame_Shift_Del	DEL	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.I1592fs	ENST00000443617.2	37	c.4778_4775	CCDS45277.1	15																																																																																			HERC1	-	NULL	ENSG00000103657		0.451	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	211	0.00	0	TCAA	NM_003922		63991054	63991057	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	frame_shift_del	89	40.67	61	DEL	1.000:1.000:1.000:1.000	-
HERC2	8924	genome.wustl.edu	37	15	28451475	28451475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:28451475G>A	ENST00000261609.7	-	45	7231	c.7123C>T	c.(7123-7125)Cag>Tag	p.Q2375*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGGGGGGCTGCGGCCCTTCA	0.498																																						dbGAP											0													1.0	1.0	1.0					15																	28451475		450	1418	1868	-	-	-	SO:0001587	stop_gained	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7123C>T	15.37:g.28451475G>A	ENSP00000261609:p.Gln2375*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.Q2375*	ENST00000261609.7	37	c.7123	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	47	13.672724	0.99756	.	.	ENSG00000128731	ENST00000261609	.	.	.	4.32	4.32	0.51571	.	0.080983	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	17.0659	0.86559	0.0:0.0:1.0:0.0	.	.	.	.	X	2375	.	ENSP00000261609:Q2375X	Q	-	1	0	HERC2	26125070	1.000000	0.71417	0.962000	0.40283	0.689000	0.40095	5.171000	0.64996	2.239000	0.73571	0.449000	0.29647	CAG	HERC2	-	NULL	ENSG00000128731		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	236	0.00	0	G	NM_004667		28451475	28451475	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	nonsense	118	42.44	87	SNP	0.977	A
HIF1AN	55662	genome.wustl.edu	37	10	102304745	102304746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:102304745_102304746insT	ENST00000299163.6	+	4	715_716	c.615_616insT	c.(616-618)tttfs	p.F206fs		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	206	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AGCAGCAGAACTTTTTTGCTCA	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.621dupT	10.37:g.102304751_102304751dupT	ENSP00000299163:p.Phe206fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR69|Q5W147|Q969Q7|Q9NPV5	Frame_Shift_Ins	INS	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.A207fs	ENST00000299163.6	37	c.615_616	CCDS7498.1	10																																																																																			HIF1AN	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000166135		0.436	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIF1AN	HGNC	protein_coding	OTTHUMT00000049865.5	79	0.00	0	-	NM_017902		102304745	102304746	+1	no_errors	ENST00000299163	ensembl	human	known	69_37n	frame_shift_ins	69	39.47	45	INS	1.000:1.000	T
HIF3A	64344	genome.wustl.edu	37	19	46815864	46815864	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:46815864C>T	ENST00000377670.4	+	8	1010	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	HIF3A_ENST00000339613.2_Missense_Mutation_p.R271W|HIF3A_ENST00000420102.2_Missense_Mutation_p.R276W|HIF3A_ENST00000600383.1_Missense_Mutation_p.R258W|HIF3A_ENST00000244303.6_Missense_Mutation_p.R258W|HIF3A_ENST00000472815.1_Missense_Mutation_p.R258W|HIF3A_ENST00000300862.3_Missense_Mutation_p.R325W	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	327					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTCAGGGGGACGGGGCCCCCA	0.617																																						dbGAP											0													75.0	77.0	76.0					19																	46815864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.979C>T	19.37:g.46815864C>T	ENSP00000366898:p.Arg327Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.R327W	ENST00000377670.4	37	c.979	CCDS12681.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.871322|3.871322	0.72065|0.72065	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102|ENST00000472815	T;T;T;T;T|.	0.16196|.	2.36;2.36;2.36;2.36;2.36|.	4.75|4.75	4.75|4.75	0.60458|0.60458	PAS fold-3 (1);|.	0.000000|.	0.35378|.	N|.	0.003259|.	T|T	0.54127|0.54127	0.1839|0.1839	L|L	0.37561|0.37561	1.115|1.115	0.41853|0.41853	D|D	0.990187|0.990187	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.75484|.	0.978;0.986;0.957;0.983;0.975;0.975;0.98|.	T|T	0.50717|0.50717	-0.8795|-0.8795	10|5	0.87932|.	D|.	0|.	.|.	10.814|10.814	0.46564|0.46564	0.1892:0.8108:0.0:0.0|0.1892:0.8108:0.0:0.0	.|.	276;258;325;276;271;327;327|.	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185|.	.;.;.;.;.;HIF3A_HUMAN;.|.	W|M	327;327;258;271;271;325;276|299	ENSP00000366898:R327W;ENSP00000244303:R258W;ENSP00000341877:R271W;ENSP00000300862:R325W;ENSP00000407771:R276W|.	ENSP00000244302:R327W|.	R|T	+|+	1|2	2|0	HIF3A|HIF3A	51507704|51507704	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.849000|1.849000	0.39318|0.39318	2.370000|2.370000	0.80446|0.80446	0.591000|0.591000	0.81541|0.81541	CGG|ACG	HIF3A	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAC	ENSG00000124440		0.617	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	42	0.00	0	C			46815864	46815864	+1	no_errors	ENST00000377670	ensembl	human	known	69_37n	missense	34	56.25	45	SNP	1.000	T
HIP1	3092	genome.wustl.edu	37	7	75185428	75185428	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:75185428G>A	ENST00000336926.6	-	18	1755	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	HIP1_ENST00000434438.2_Missense_Mutation_p.R577W	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	577					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGGCTGTCCCGCTCCTTCTCT	0.557			T	PDGFRB	CMML																																	dbGAP		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													171.0	160.0	164.0					7																	75185428		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1729C>T	7.37:g.75185428G>A	ENSP00000336747:p.Arg577Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.R577W	ENST00000336926.6	37	c.1729	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612933	0.66672	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.15139	2.68;2.45	5.83	3.91	0.45181	.	0.119868	0.53938	D	0.000041	T	0.15305	0.0369	N	0.08118	0	0.34488	D	0.704641	D;P	0.61080	0.989;0.876	P;B	0.53809	0.735;0.367	T	0.30679	-0.9970	10	0.66056	D	0.02	-25.4675	12.1918	0.54275	0.0:0.0:0.6909:0.309	.	577;577	E7ES17;O00291	.;HIP1_HUMAN	W	577	ENSP00000336747:R577W;ENSP00000410300:R577W	ENSP00000336747:R577W	R	-	1	2	HIP1	75023364	0.074000	0.21230	0.828000	0.32881	0.519000	0.34347	0.992000	0.29667	1.445000	0.47624	0.655000	0.94253	CGG	HIP1	-	NULL	ENSG00000127946		0.557	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	156	0.00	0	G	NM_005338		75185428	75185428	-1	no_errors	ENST00000336926	ensembl	human	known	69_37n	missense	146	35.96	82	SNP	0.990	A
HIP1R	9026	genome.wustl.edu	37	12	123343487	123343487	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:123343487C>T	ENST00000253083.4	+	21	2278	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	718					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACCGACCCTGCCGACCGTAAG	0.667																																						dbGAP											0													38.0	39.0	39.0					12																	123343487		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2153C>T	12.37:g.123343487C>T	ENSP00000253083:p.Ala718Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.A718V	ENST00000253083.4	37	c.2153	CCDS31922.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.853349	0.97030	.	.	ENSG00000130787	ENST00000253083	T	0.17054	2.3	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.82630	2.6	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	T	0.48725	-0.9010	10	0.51188	T	0.08	-11.6079	18.6197	0.91317	0.0:1.0:0.0:0.0	.	718	O75146	HIP1R_HUMAN	V	718	ENSP00000253083:A718V	ENSP00000253083:A718V	A	+	2	0	HIP1R	121909440	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	7.805000	0.86005	2.401000	0.81631	0.561000	0.74099	GCC	HIP1R	-	NULL	ENSG00000130787		0.667	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	HGNC	protein_coding	OTTHUMT00000400935.1	11	0.00	0	C	NM_003959		123343487	123343487	+1	no_errors	ENST00000253083	ensembl	human	known	69_37n	missense	3	72.73	8	SNP	1.000	T
HIST1H2AG	8969	genome.wustl.edu	37	6	27101162	27101162	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:27101162A>G	ENST00000359193.2	+	1	331	c.312A>G	c.(310-312)gcA>gcG	p.A104A	HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	104						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						TCACCATCGCACAGGGCGGTG	0.567																																						dbGAP											0													109.0	103.0	105.0					6																	27101162		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.312A>G	6.37:g.27101162A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P02261|Q2M1R2|Q76PA6	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.A104	ENST00000359193.2	37	c.312	CCDS4619.1	6																																																																																			HIST1H2AG	-	superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000196787		0.567	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AG	HGNC	protein_coding	OTTHUMT00000040137.1	106	0.00	0	A	NM_021064		27101162	27101162	+1	no_errors	ENST00000359193	ensembl	human	known	69_37n	silent	66	41.59	47	SNP	0.705	G
HIST1H3B	8358	genome.wustl.edu	37	6	26031979	26031979	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:26031979G>A	ENST00000244661.2	-	1	309	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	104					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TCCTCAAAGAGCCCTACCAAG	0.557																																						dbGAP											0													76.0	77.0	76.0					6																	26031979		2203	4300	6503	-	-	-	SO:0001583	missense	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.310C>T	6.37:g.26031979G>A	ENSP00000244661:p.Leu104Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.L104F	ENST00000244661.2	37	c.310	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	g	17.39	3.378039	0.61735	.	.	ENSG00000124693	ENST00000244661	T	0.73047	-0.71	5.07	5.07	0.68467	.	.	.	.	.	T	0.80003	0.4544	.	.	.	0.48135	D	0.999599	.	.	.	.	.	.	T	0.82824	-0.0266	6	0.87932	D	0	.	17.7852	0.88535	0.0:0.0:1.0:0.0	.	.	.	.	F	104	ENSP00000244661:L104F	ENSP00000244661:L104F	L	-	1	0	HIST1H3B	26139958	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.572000	0.60886	2.487000	0.83934	0.561000	0.74099	CTC	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.557	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	86	0.00	0	G	NM_003537		26031979	26031979	-1	no_errors	ENST00000244661	ensembl	human	known	69_37n	missense	62	41.12	44	SNP	1.000	A
HIST1H2AL	8332	genome.wustl.edu	37	6	27833446	27833446	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:27833446A>G	ENST00000357320.2	+	1	413	c.314A>G	c.(313-315)cAg>cGg	p.Q105R		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	105						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						ACCATCGCTCAGGGTGGTGTC	0.552																																						dbGAP											0													127.0	121.0	123.0					6																	27833446		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.314A>G	6.37:g.27833446A>G	ENSP00000349873:p.Gln105Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.Q105R	ENST00000357320.2	37	c.314	CCDS4634.1	6	.	.	.	.	.	.	.	.	.	.	.	15.61	2.884464	0.51908	.	.	ENSG00000198374	ENST00000357320	T	0.42513	0.97	4.57	4.57	0.56435	.	0.000000	0.29799	U	0.011171	T	0.38799	0.1054	.	.	.	0.30051	N	0.811768	.	.	.	.	.	.	T	0.34900	-0.9810	7	0.87932	D	0	.	13.4235	0.61011	1.0:0.0:0.0:0.0	.	.	.	.	R	105	ENSP00000349873:Q105R	ENSP00000349873:Q105R	Q	+	2	0	HIST1H2AL	27941425	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.790000	0.91844	1.836000	0.53414	0.460000	0.39030	CAG	HIST1H2AL	-	superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000198374		0.552	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AL	HGNC	protein_coding	OTTHUMT00000040160.1	171	0.00	0	A	NM_003511		27833446	27833446	+1	no_errors	ENST00000357320	ensembl	human	known	69_37n	missense	110	41.49	78	SNP	1.000	G
HIVEP2	3097	genome.wustl.edu	37	6	143094744	143094745	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:143094744_143094745insT	ENST00000367604.1	-	4	1770_1771	c.1131_1132insA	c.(1129-1134)aaaggafs	p.G378fs	HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.G378fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.G378fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAATCTTGTCCTTTTTTCTCTG	0.431																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1132dupA	6.37:g.143094750_143094750dupT	ENSP00000356576:p.Gly378fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02646|Q5THT5|Q9NS05	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G377fs	ENST00000367604.1	37	c.1132_1131	CCDS43510.1	6																																																																																			HIVEP2	-	NULL	ENSG00000010818		0.431	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	184	0.00	0	-			143094744	143094745	-1	no_errors	ENST00000012134	ensembl	human	known	69_37n	frame_shift_ins	107	30.52	47	INS	1.000:1.000	T
HK2	3099	genome.wustl.edu	37	2	75101450	75101450	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:75101450G>C	ENST00000290573.2	+	7	1349	c.749G>C	c.(748-750)gGc>gCc	p.G250A	HK2_ENST00000409174.1_Missense_Mutation_p.G222A	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	250	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATGGTGGAAGGCGATGAGGGG	0.592																																						dbGAP											0													62.0	60.0	61.0					2																	75101450		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.749G>C	2.37:g.75101450G>C	ENSP00000290573:p.Gly250Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.G250A	ENST00000290573.2	37	c.749	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400321	0.42613	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97066	-4.23;-4.23	4.63	4.63	0.57726	Hexokinase, C-terminal (1);	0.096468	0.64402	D	0.000001	D	0.98254	0.9422	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98448	1.0590	10	0.54805	T	0.06	-27.3592	15.3755	0.74602	0.0:0.0:1.0:0.0	.	250	P52789	HXK2_HUMAN	A	250;250;222	ENSP00000290573:G250A;ENSP00000387140:G222A	ENSP00000290573:G250A	G	+	2	0	HK2	74954958	1.000000	0.71417	0.954000	0.39281	0.151000	0.21798	7.748000	0.85085	2.561000	0.86390	0.655000	0.94253	GGC	HK2	-	pfam_Hexokinase_C	ENSG00000159399		0.592	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	51	0.00	0	G	NM_000189		75101450	75101450	+1	no_errors	ENST00000290573	ensembl	human	known	69_37n	missense	24	40.00	16	SNP	1.000	C
HLA-DQB1	3119	genome.wustl.edu	37	6	32632785	32632785	+	Missense_Mutation	SNP	G	G	A	rs546609663		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:32632785G>A	ENST00000399084.1	-	3	347	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.R57C|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.R57C|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.R57C|HLA-DQB1_ENST00000399082.3_Intron			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	57	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	GTCACAAGACGCACGCGCTCC	0.637									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				G|||	1	0.000199681	0.0008	0.0	5008	,	,		8010	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(151;720 1825 15000 40336 43415)	dbGAP											0													28.0	30.0	29.0					6																	32632785		2130	4221	6351	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399084.1:c.169C>T	6.37:g.32632785G>A	ENSP00000382034:p.Arg57Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.R57C	ENST00000399084.1	37	c.169	CCDS43451.1	6	.	.	.	.	.	.	.	.	.	.	.	12.34	1.907472	0.33721	.	.	ENSG00000179344	ENST00000399079;ENST00000374943;ENST00000434651;ENST00000399084	T;T;T;T	0.00378	7.67;7.67;7.67;7.67	3.91	3.91	0.45181	.	0.264970	0.32548	U	0.005949	T	0.01124	0.0037	H	0.99931	4.975	0.28947	N	0.890646	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.994;0.975;0.954;0.954;0.975	T	0.44375	-0.9332	10	0.87932	D	0	.	8.7903	0.34845	0.0:0.0:0.775:0.225	.	67;57;22;57;57	Q59F80;A2AAZ0;A2VCT9;Q5Y7D6;Q5Y7A9	.;.;.;.;.	C	57	ENSP00000382029:R57C;ENSP00000364080:R57C;ENSP00000407332:R57C;ENSP00000382034:R57C	ENSP00000364080:R57C	R	-	1	0	HLA-DQB1	32740763	0.304000	0.24472	0.323000	0.25347	0.013000	0.08279	0.794000	0.26958	2.041000	0.60428	0.305000	0.20034	CGT	HLA-DQB1	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000179344		0.637	HLA-DQB1-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HLA-DQB1	HGNC	protein_coding	OTTHUMT00000276127.1	55	0.00	0	G	NM_002123		32632785	32632785	-1	no_errors	ENST00000374943	ensembl	human	known	69_37n	missense	20	63.64	35	SNP	0.431	A
HMGCS2	3158	genome.wustl.edu	37	1	120298093	120298093	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:120298093A>G	ENST00000369406.3	-	6	1193	c.1144T>C	c.(1144-1146)Tac>Cac	p.Y382H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.Y340H|HMGCS2_ENST00000476640.1_5'Flank	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	382					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GATGAGGTGTACATGTTCCCA	0.547																																						dbGAP											0													410.0	380.0	390.0					1																	120298093		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1144T>C	1.37:g.120298093A>G	ENSP00000358414:p.Tyr382His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.Y382H	ENST00000369406.3	37	c.1144	CCDS905.1	1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824000	0.71143	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.86432	-2.12;-2.12	5.39	5.39	0.77823	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.221202	0.32314	N	0.006273	D	0.94155	0.8125	M	0.93375	3.41	0.53688	D	0.999973	D;D	0.76494	0.994;0.999	D;D	0.77557	0.957;0.99	D	0.95457	0.8539	10	0.87932	D	0	-21.3274	13.6417	0.62255	1.0:0.0:0.0:0.0	.	340;382	B7Z8R3;P54868	.;HMCS2_HUMAN	H	382;340	ENSP00000358414:Y382H;ENSP00000439495:Y340H	ENSP00000358414:Y382H	Y	-	1	0	HMGCS2	120099616	1.000000	0.71417	0.999000	0.59377	0.481000	0.33189	8.774000	0.91767	2.156000	0.67533	0.533000	0.62120	TAC	HMGCS2	-	pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	ENSG00000134240		0.547	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS2	HGNC	protein_coding	OTTHUMT00000033469.2	414	0.00	0	A	NM_005518		120298093	120298093	-1	no_errors	ENST00000369406	ensembl	human	known	69_37n	missense	257	43.52	198	SNP	1.000	G
HMGN2P46	283651	genome.wustl.edu	37	15	45847981	45847981	+	lincRNA	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:45847981C>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							CAGCCGAAGCCCAGAAAGGCC	0.488																																						dbGAP											0													50.0	48.0	48.0					15																	45847981		2198	4298	6496	-	-	-			0																															15.37:g.45847981C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000557965.1	37	NULL		15																																																																																			HMGN2P46	-	-	ENSG00000179362		0.488	RP11-96O20.2-001	KNOWN	basic	lincRNA	HMGN2P46	HGNC	lincRNA	OTTHUMT00000416553.1	257	0.00	0	C			45847981	45847981	+1	no_errors	ENST00000313559	ensembl	human	known	69_37n	rna	189	44.57	152	SNP	0.497	T
HMHA1	23526	genome.wustl.edu	37	19	1080298	1080298	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:1080298A>G	ENST00000313093.2	+	14	1979	c.1748A>G	c.(1747-1749)gAt>gGt	p.D583G	HMHA1_ENST00000590214.1_Missense_Mutation_p.D610G|HMHA1_ENST00000586866.1_Missense_Mutation_p.D587G|HMHA1_ENST00000590577.1_Missense_Mutation_p.D218G|HMHA1_ENST00000536472.1_Missense_Mutation_p.D423G|HMHA1_ENST00000539243.2_Missense_Mutation_p.D599G|HMHA1_ENST00000543365.1_Missense_Mutation_p.D466G	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	583					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACGTGAGTGATGTGGCGCGG	0.662																																						dbGAP											0													57.0	66.0	63.0					19																	1080298		2203	4299	6502	-	-	-	SO:0001583	missense	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1748A>G	19.37:g.1080298A>G	ENSP00000316772:p.Asp583Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.D583G	ENST00000313093.2	37	c.1748	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543199	0.45280	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.23754	1.92;1.95;2.03;1.89	3.98	2.93	0.34026	.	0.412335	0.23885	U	0.043605	T	0.38532	0.1044	M	0.76328	2.33	0.28145	N	0.929627	P;D;P;P;P	0.56521	0.867;0.976;0.82;0.933;0.791	P;P;P;P;B	0.53360	0.461;0.724;0.468;0.599;0.272	T	0.29701	-1.0003	10	0.72032	D	0.01	.	8.7868	0.34825	0.8308:0.0:0.0:0.1692	.	423;599;218;466;583	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	G	599;583;583;423;577;466	ENSP00000439601:D599G;ENSP00000316772:D583G;ENSP00000445109:D423G;ENSP00000438979:D466G	ENSP00000316772:D583G	D	+	2	0	HMHA1	1031298	0.007000	0.16637	0.040000	0.18447	0.076000	0.17211	0.948000	0.29096	0.495000	0.27882	0.459000	0.35465	GAT	HMHA1	-	NULL	ENSG00000180448		0.662	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	30	0.00	0	A			1080298	1080298	+1	no_errors	ENST00000313093	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	0.514	G
HOOK1	51361	genome.wustl.edu	37	1	60331545	60331545	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:60331545A>G	ENST00000371208.3	+	19	2003	c.1746A>G	c.(1744-1746)gtA>gtG	p.V582V	HOOK1_ENST00000395561.2_Splice_Site_p.V540V|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	582					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TACTAATAGTACAAAAGATCA	0.254																																						dbGAP											0													45.0	51.0	49.0					1																	60331545		2201	4289	6490	-	-	-	SO:0001630	splice_region_variant	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1745-1A>G	1.37:g.60331545A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	pfam_HOOK,superfamily_Prefoldin	p.V582	ENST00000371208.3	37	c.1746	CCDS612.1	1																																																																																			HOOK1	-	pfam_HOOK	ENSG00000134709		0.254	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	166	0.60	1	A	NM_015888	Silent	60331545	60331545	+1	no_errors	ENST00000371208	ensembl	human	known	69_37n	silent	76	43.70	59	SNP	0.899	G
HOXC10	3226	genome.wustl.edu	37	12	54382955	54382955	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:54382955G>A	ENST00000303460.4	+	2	828	c.754G>A	c.(754-756)Gag>Aag	p.E252K	MIR196A2_ENST00000385189.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC10_ENST00000511575.1_3'UTR	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	252					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TTTAACAGAGGAGATAAAGGC	0.483											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													50.0	50.0	50.0					12																	54382955		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.754G>A	12.37:g.54382955G>A	ENSP00000307321:p.Glu252Lys	Somatic	999	WXS	Illumina GAIIx	Phase_IV	O15219|O15220|Q9BVD5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E252K	ENST00000303460.4	37	c.754	CCDS8868.1	12	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270980	0.40194	.	.	ENSG00000180818	ENST00000303460	D	0.91792	-2.91	3.97	3.97	0.46021	Homeodomain-like (1);	0.222293	0.39544	N	0.001328	D	0.88858	0.6551	L	0.47190	1.495	0.80722	D	1	B	0.20780	0.048	B	0.17098	0.017	D	0.86300	0.1679	10	0.38643	T	0.18	.	15.6731	0.77295	0.0:0.0:1.0:0.0	.	252	Q9NYD6	HXC10_HUMAN	K	252	ENSP00000307321:E252K	ENSP00000307321:E252K	E	+	1	0	HOXC10	52669222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.838000	0.62803	2.147000	0.66899	0.455000	0.32223	GAG	HOXC10	-	superfamily_Homeodomain-like	ENSG00000180818		0.483	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC10	HGNC	protein_coding	OTTHUMT00000358952.2	94	0.00	0	G			54382955	54382955	+1	no_errors	ENST00000303460	ensembl	human	known	69_37n	missense	53	45.92	45	SNP	1.000	A
HOXC6	3223	genome.wustl.edu	37	12	54423471	54423471	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:54423471C>T	ENST00000243108.4	+	2	597	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_Missense_Mutation_p.R63C|HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	145					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAGGCGCGGCCGCCAGATCTA	0.587																																						dbGAP											0													68.0	75.0	73.0					12																	54423471		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.433C>T	12.37:g.54423471C>T	ENSP00000243108:p.Arg145Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBV2|Q6DK09	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R145C	ENST00000243108.4	37	c.433	CCDS8871.1	12	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847008	0.71603	.	.	ENSG00000197757	ENST00000509328;ENST00000394331;ENST00000243108	D;D	0.99186	-5.53;-5.53	4.69	4.69	0.59074	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97380	0.9982	10	0.87932	D	0	.	16.5532	0.84477	0.0:1.0:0.0:0.0	.	145	P09630	HXC6_HUMAN	C	71;63;145	ENSP00000377864:R63C;ENSP00000243108:R145C	ENSP00000243108:R145C	R	+	1	0	HOXC6	52709738	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.213000	0.51153	2.434000	0.82447	0.561000	0.74099	CGC	HOXC6	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000197757		0.587	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC6	HGNC	protein_coding	OTTHUMT00000358943.2	91	0.00	0	C			54423471	54423471	+1	no_errors	ENST00000243108	ensembl	human	known	69_37n	missense	52	48.51	49	SNP	1.000	T
HPS5	11234	genome.wustl.edu	37	11	18308138	18308138	+	Splice_Site	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:18308138C>A	ENST00000349215.3	-	19	3114	c.2837G>T	c.(2836-2838)aGg>aTg	p.R946M	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Splice_Site_p.R832M|HPS5_ENST00000396253.3_Splice_Site_p.R832M|HPS5_ENST00000537258.1_Splice_Site_p.R53M	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	946					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTTCTGTACCTGGGATAACC	0.438									Hermansky-Pudlak syndrome																													dbGAP											0													80.0	75.0	77.0					11																	18308138		2199	4293	6492	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2837+1G>T	11.37:g.18308138C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.R946M	ENST00000349215.3	37	c.2837	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323766	0.81580	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258;ENST00000544218	T;T;T	0.59502	0.29;0.29;0.26	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71745	-0.4500	9	.	.	.	.	19.3191	0.94231	0.0:1.0:0.0:0.0	.	946	Q9UPZ3	HPS5_HUMAN	M	832;832;946;53;132	ENSP00000379552:R832M;ENSP00000399590:R832M;ENSP00000265967:R946M	.	R	-	2	0	HPS5	18264714	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.943000	0.63554	2.576000	0.86940	0.491000	0.48974	AGG	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.438	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	122	0.00	0	C	NM_181507	Missense_Mutation	18308138	18308138	-1	no_errors	ENST00000349215	ensembl	human	known	69_37n	missense	53	42.55	40	SNP	1.000	A
HPX	3263	genome.wustl.edu	37	11	6453144	6453144	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:6453144G>T	ENST00000265983.3	-	8	1039	c.939C>A	c.(937-939)tcC>tcA	p.S313S		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	313					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TTTCTTCCCAGGAAAAGGCAG	0.537																																						dbGAP											0													146.0	151.0	149.0					11																	6453144		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.939C>A	11.37:g.6453144G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R957	Silent	SNP	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata	p.S313	ENST00000265983.3	37	c.939	CCDS7763.1	11																																																																																			HPX	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata	ENSG00000110169		0.537	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	500	0.00	0	G	NM_000613		6453144	6453144	-1	no_errors	ENST00000265983	ensembl	human	known	69_37n	silent	358	37.30	213	SNP	1.000	T
HPS5	11234	genome.wustl.edu	37	11	18309441	18309441	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:18309441G>A	ENST00000349215.3	-	17	2837	c.2560C>T	c.(2560-2562)Cgg>Tgg	p.R854W	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Splice_Site_p.R740W|HPS5_ENST00000396253.3_Splice_Site_p.R740W|HPS5_ENST00000537258.1_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	854					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAACTTACCGGGTAGCATAA	0.363									Hermansky-Pudlak syndrome																													dbGAP											0													140.0	122.0	129.0					11																	18309441		2199	4293	6492	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2561+1C>T	11.37:g.18309441G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.R854W	ENST00000349215.3	37	c.2560	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415187	0.42817	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000544218	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.36	-0.639	0.11497	.	0.091394	0.85682	D	0.000000	D	0.90017	0.6883	M	0.66939	2.045	0.48830	D	0.999711	D	0.76494	0.999	D	0.65443	0.935	D	0.88319	0.2961	10	0.87932	D	0	.	10.3165	0.43740	0.0768:0.0:0.2154:0.7078	.	854	Q9UPZ3	HPS5_HUMAN	W	740;740;854;40	ENSP00000379552:R740W;ENSP00000399590:R740W;ENSP00000265967:R854W;ENSP00000441781:R40W	ENSP00000265967:R854W	R	-	1	2	HPS5	18266017	0.959000	0.32827	0.725000	0.30721	0.174000	0.22865	1.548000	0.36201	-0.008000	0.14320	-0.475000	0.04921	CGG	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.363	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	134	0.74	1	G	NM_181507	Missense_Mutation	18309441	18309441	-1	no_errors	ENST00000349215	ensembl	human	known	69_37n	missense	74	45.19	61	SNP	0.340	A
HRNR	388697	genome.wustl.edu	37	1	152191270	152191270	+	Silent	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:152191270A>T	ENST00000368801.2	-	3	2910	c.2835T>A	c.(2833-2835)acT>acA	p.T945T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	945					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCATGCTGAGTGTAACCAG	0.562																																						dbGAP											0													259.0	258.0	259.0					1																	152191270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2835T>A	1.37:g.152191270A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.T945	ENST00000368801.2	37	c.2835	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	129	0.00	0	A	XM_373868		152191270	152191270	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	silent	106	29.87	46	SNP	0.000	T
HRNR	388697	genome.wustl.edu	37	1	152192116	152192116	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:152192116G>A	ENST00000368801.2	-	3	2064	c.1989C>T	c.(1987-1989)ggC>ggT	p.G663G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	663					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCATGTCGGCCGCGACTAG	0.597																																						dbGAP											0													137.0	148.0	144.0					1																	152192116		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1989C>T	1.37:g.152192116G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G663	ENST00000368801.2	37	c.1989	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	116	0.00	0	G	XM_373868		152192116	152192116	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	silent	89	30.47	39	SNP	0.000	A
HTATSF1	27336	genome.wustl.edu	37	X	135593711	135593711	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:135593711G>A	ENST00000218364.4	+	9	1981	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	HTATSF1_ENST00000535601.1_Missense_Mutation_p.E603K	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	603	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CTCCGAATTTGAAGATGACGG	0.388																																						dbGAP											0													61.0	66.0	64.0					X																	135593711		2200	4293	6493	-	-	-	SO:0001583	missense	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1807G>A	X.37:g.135593711G>A	ENSP00000218364:p.Glu603Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E603K	ENST00000218364.4	37	c.1807	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245785	0.22796	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04156	3.69;3.69	4.42	2.66	0.31614	.	1.263220	0.05698	N	0.593579	T	0.03477	0.0100	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.42732	-0.9434	10	0.42905	T	0.14	.	8.0052	0.30321	0.2074:0.0:0.7926:0.0	.	603	O43719	HTSF1_HUMAN	K	603	ENSP00000442699:E603K;ENSP00000218364:E603K	ENSP00000218364:E603K	E	+	1	0	HTATSF1	135421377	0.163000	0.22920	0.113000	0.21522	0.521000	0.34408	2.977000	0.49297	0.627000	0.30340	-0.306000	0.09157	GAA	HTATSF1	-	NULL	ENSG00000102241		0.388	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	461	0.00	0	G	NM_014500		135593711	135593711	+1	no_errors	ENST00000218364	ensembl	human	known	69_37n	missense	276	42.14	201	SNP	0.578	A
HTR1E	3354	genome.wustl.edu	37	6	87725663	87725663	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:87725663G>A	ENST00000305344.5	+	2	1314	c.611G>A	c.(610-612)cGg>cAg	p.R204Q		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	204					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R204Q(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTCTATTACCGGATTTACCAC	0.453																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											96.0	94.0	94.0					6																	87725663		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.611G>A	6.37:g.87725663G>A	ENSP00000307766:p.Arg204Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.R204Q	ENST00000305344.5	37	c.611	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095383	0.76870	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.38887	1.11;1.11	4.51	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000033	T	0.48607	0.1509	L	0.53729	1.69	0.35878	D	0.828761	D	0.64830	0.994	P	0.62491	0.903	T	0.53767	-0.8392	10	0.52906	T	0.07	.	17.2072	0.86921	0.0:0.0:1.0:0.0	.	204	P28566	5HT1E_HUMAN	Q	204	ENSP00000307766:R204Q;ENSP00000358597:R204Q	ENSP00000307766:R204Q	R	+	2	0	HTR1E	87782382	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.977000	0.76141	2.071000	0.62044	0.404000	0.27445	CGG	HTR1E	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000168830		0.453	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	323	0.00	0	G	NM_000865		87725663	87725663	+1	no_errors	ENST00000305344	ensembl	human	known	69_37n	missense	189	35.93	106	SNP	0.998	A
HTR2C	3358	genome.wustl.edu	37	X	114082717	114082717	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:114082717G>A	ENST00000276198.1	+	5	1229	c.501G>A	c.(499-501)tcG>tcA	p.S167S	HTR2C_ENST00000371951.1_Silent_p.S167S|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	167					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTTTCAATTCGCGGACTAAGG	0.403																																						dbGAP											0													124.0	104.0	111.0					X																	114082717		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.501G>A	X.37:g.114082717G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2C_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.S167	ENST00000276198.1	37	c.501	CCDS14564.1	X																																																																																			HTR2C	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000147246		0.403	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	302	0.00	0	G	NM_000868		114082717	114082717	+1	no_errors	ENST00000276198	ensembl	human	known	69_37n	silent	128	38.46	80	SNP	1.000	A
IARS2	55699	genome.wustl.edu	37	1	220316679	220316679	+	Intron	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:220316679delA	ENST00000302637.5	+	21	2855				IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000366922.1_Intron	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATGCACATTTAAAAAAAAGTG	0.244																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2751+203A>-	1.37:g.220316679delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	RNA	DEL	-	NULL	ENST00000302637.5	37	NULL	CCDS1523.1	1																																																																																			IARS2	-	-	ENSG00000067704		0.244	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		15	0.00	0	A	NM_018060		220316679	220316679	+1	no_errors	ENST00000467924	ensembl	human	known	69_37n	rna	13	23.53	4	DEL	0.009	-
IBSP	3381	genome.wustl.edu	37	4	88731767	88731767	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:88731767A>G	ENST00000226284.5	+	6	323	c.256A>G	c.(256-258)Aat>Gat	p.N86D		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	86	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGAGACTTCAAATGAAGGAGA	0.363																																						dbGAP											0													67.0	71.0	70.0					4																	88731767		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.256A>G	4.37:g.88731767A>G	ENSP00000226284:p.Asn86Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BSP_II	p.N86D	ENST00000226284.5	37	c.256	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055093	0.55325	.	.	ENSG00000029559	ENST00000226284	T	0.15603	2.41	5.35	5.35	0.76521	.	0.159908	0.44688	D	0.000440	T	0.39937	0.1097	M	0.76574	2.34	0.27950	N	0.937189	D	0.76494	0.999	D	0.87578	0.998	T	0.29397	-1.0013	10	0.37606	T	0.19	.	11.9993	0.53222	1.0:0.0:0.0:0.0	.	86	P21815	SIAL_HUMAN	D	86	ENSP00000226284:N86D	ENSP00000226284:N86D	N	+	1	0	IBSP	88950791	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	4.103000	0.57783	2.149000	0.67028	0.482000	0.46254	AAT	IBSP	-	pfam_BSP_II	ENSG00000029559		0.363	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	247	0.00	0	A			88731767	88731767	+1	no_errors	ENST00000226284	ensembl	human	known	69_37n	missense	155	40.38	105	SNP	1.000	G
IFNA8	3445	genome.wustl.edu	37	9	21409272	21409272	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:21409272G>A	ENST00000380205.1	+	1	127	c.97G>A	c.(97-99)Ggt>Agt	p.G33S		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	33					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		TCACAGCCTGGGTAACAGGAG	0.502																																						dbGAP											0													125.0	123.0	123.0					9																	21409272		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.97G>A	9.37:g.21409272G>A	ENSP00000369553:p.Gly33Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.G33S	ENST00000380205.1	37	c.97	CCDS6507.1	9	.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087015	0.01873	.	.	ENSG00000120242	ENST00000380205	T	0.05025	3.51	3.43	-0.98	0.10272	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.628040	0.03262	N	0.183455	T	0.06462	0.0166	L	0.39397	1.21	0.09310	N	1	B	0.12013	0.005	B	0.25405	0.06	T	0.41610	-0.9499	10	0.18710	T	0.47	.	4.6448	0.12566	0.2668:0.1689:0.5643:0.0	.	33	P32881	IFNA8_HUMAN	S	33	ENSP00000369553:G33S	ENSP00000369553:G33S	G	+	1	0	IFNA8	21399272	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.158000	0.10070	-0.348000	0.08286	0.561000	0.74099	GGT	IFNA8	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000120242		0.502	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA8	HGNC	protein_coding	OTTHUMT00000051906.1	182	0.55	1	G	NM_002170		21409272	21409272	+1	no_errors	ENST00000380205	ensembl	human	known	69_37n	missense	115	38.83	73	SNP	0.001	A
IGF2BP2	10644	genome.wustl.edu	37	3	185376147	185376147	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:185376147C>T	ENST00000382199.2	-	11	1346	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	IGF2BP2_ENST00000421047.2_Silent_p.P360P|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Silent_p.P423P|IGF2BP2_ENST00000346192.3_Silent_p.P374P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	417					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GATGCGGGAACGGGCCAAACT	0.597																																						dbGAP											0													109.0	106.0	107.0					3																	185376147		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1251G>A	3.37:g.185376147C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.P417	ENST00000382199.2	37	c.1251	CCDS3273.2	3																																																																																			IGF2BP2	-	NULL	ENSG00000073792		0.597	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	16	0.00	0	C	NM_006548		185376147	185376147	-1	no_errors	ENST00000382199	ensembl	human	known	69_37n	silent	17	32.00	8	SNP	0.997	T
IGHMBP2	3508	genome.wustl.edu	37	11	68704127	68704127	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:68704127G>A	ENST00000255078.3	+	13	2290	c.2179G>A	c.(2179-2181)Gac>Aac	p.D727N		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	727	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.|SS DNA-binding. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGATGGCGTGGACCACTTCCG	0.602																																						dbGAP											0													43.0	42.0	43.0					11																	68704127		2200	4294	6494	-	-	-	SO:0001583	missense	0			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2179G>A	11.37:g.68704127G>A	ENSP00000255078:p.Asp727Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.D727N	ENST00000255078.3	37	c.2179	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	8.853	0.945147	0.18356	.	.	ENSG00000132740	ENST00000255078	D	0.90133	-2.62	3.83	2.87	0.33458	Single-stranded nucleic acid binding R3H (2);	1.584860	0.03240	N	0.180220	D	0.86789	0.6017	L	0.42245	1.32	0.23665	N	0.997166	B	0.06786	0.001	B	0.06405	0.002	T	0.69091	-0.5237	10	0.24483	T	0.36	-24.6658	6.9546	0.24563	0.1018:0.1815:0.7166:0.0	.	727	P38935	SMBP2_HUMAN	N	727	ENSP00000255078:D727N	ENSP00000255078:D727N	D	+	1	0	IGHMBP2	68460703	0.411000	0.25384	0.010000	0.14722	0.126000	0.20510	2.455000	0.44988	0.910000	0.36722	0.561000	0.74099	GAC	IGHMBP2	-	smart_R3H_ss-bd,pfscan_R3H_ss-bd	ENSG00000132740		0.602	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	30	0.00	0	G	NM_002180		68704127	68704127	+1	no_errors	ENST00000255078	ensembl	human	known	69_37n	missense	8	65.22	15	SNP	0.208	A
IGHV3-7	28452	genome.wustl.edu	37	14	106518472	106518472	+	RNA	SNP	G	G	A	rs538764963	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:106518472G>A	ENST00000390598.2	-	0	357									immunoglobulin heavy variable 3-7																		AGTTCTTGGCGTTGTCTCTGG	0.522													.|||	2	0.000399361	0.0	0.0	5008	,	,		11497	0.0		0.002	False		,,,				2504	0.0					dbGAP											0													202.0	193.0	196.0					14																	106518472		1892	4113	6005	-	-	-			0			M99649		14q32.33	2012-02-08			ENSG00000211938	ENSG00000211938		"""Immunoglobulins / IGH locus"""	5620	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152271		14.37:g.106518472G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.N93	ENST00000390598.2	37	c.279		14																																																																																			IGHV3-7	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211938		0.522	IGHV3-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-7	HGNC	IG_V_gene	OTTHUMT00000325659.1	652	0.00	0	G	NG_001019		106518472	106518472	-1	no_stop_codon	ENST00000390598	ensembl	human	known	69_37n	silent	392	41.28	277	SNP	0.005	A
IGKV2-28	28921	genome.wustl.edu	37	2	89521300	89521300	+	RNA	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:89521300G>A	ENST00000482769.1	-	0	268									immunoglobulin kappa variable 2-28																		GACCCCGGAGGCCCGATTAGA	0.507																																						dbGAP											0													6.0	6.0	6.0					2																	89521300		1642	3738	5380	-	-	-			0			X63397		2p11.2	2012-02-08			ENSG00000244116	ENSG00000244116		"""Immunoglobulins / IGK locus"""	5783	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151652		2.37:g.89521300G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A80V	ENST00000482769.1	37	c.239		2																																																																																			IGKV2-28	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000244116		0.507	IGKV2-28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV2-28	HGNC	IG_V_gene	OTTHUMT00000323401.1	55	0.00	0	G	NG_000834		89521300	89521300	-1	no_stop_codon	ENST00000482769	ensembl	human	known	69_37n	missense	33	36.54	19	SNP	0.000	A
IGKV2D-40	28878	genome.wustl.edu	37	2	89890608	89890608	+	RNA	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:89890608G>A	ENST00000560045.1	+	0	0									immunoglobulin kappa variable 2D-40																		CTAATGCTCTGGGTCCCTGGT	0.517																																						dbGAP											0																																										-	-	-			0			X59311		2p11.2	2012-02-08			ENSG00000251039	ENSG00000251039		"""Immunoglobulins / IGK locus"""	5804	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000159963		2.37:g.89890608G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.W3*	ENST00000560045.1	37	c.8		2																																																																																			IGKV2D-40	-	NULL	ENSG00000251039		0.517	IGKV2D-40-201	KNOWN	basic|appris_principal	IG_V_gene	IGKV2D-40	HGNC	IG_V_gene		132	0.00	0	G	NG_000833		89890608	89890608	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000429992	ensembl	human	known	69_37n	nonsense	103	16.80	21	SNP	0.823	A
IGKV2D-26	28884	genome.wustl.edu	37	2	90025248	90025248	+	RNA	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:90025248T>C	ENST00000390268.2	+	0	126									immunoglobulin kappa variable 2D-26																		TCTCCTTGTCTATCACCCCTG	0.448																																						dbGAP											0																																										-	-	-			0			X12689		2p11.2	2012-02-08			ENSG00000211623	ENSG00000211623		"""Immunoglobulins / IGK locus"""	5798	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151606		2.37:g.90025248T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S32	ENST00000390268.2	37	c.96		2																																																																																			IGKV2D-26	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211623		0.448	IGKV2D-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV2D-26	HGNC	IG_V_gene	OTTHUMT00000323278.2	156	0.00	0	T	NG_000833		90025248	90025248	+1	no_stop_codon	ENST00000390268	ensembl	human	known	69_37n	silent	96	45.14	79	SNP	0.000	C
IGLC2	3538	genome.wustl.edu	37	22	23243306	23243306	+	RNA	SNP	C	C	T	rs371508809		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:23243306C>T	ENST00000390323.2	+	0	151				IGLJ2_ENST00000390322.2_RNA			P0CG05	LAC2_HUMAN	immunoglobulin lambda constant 2 (Kern-Oz- marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCCGTCAAGGCGGGAGTGGAG	0.582																																						dbGAP											0													16.0	20.0	18.0					22																	23243306		2041	4073	6114	-	-	-			0			J00253		22q11.2	2012-02-08			ENSG00000211677	ENSG00000211677		"""Immunoglobulins / IGL locus"""	5856	other	immunoglobulin gene				IGLC			Standard	NG_000002		Approved			P0CG05	OTTHUMG00000151214		22.37:g.23243306C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0M8Q4|P80423	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.R51W	ENST00000390323.2	37	c.151		22																																																																																			IGLC2	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211677		0.582	IGLC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGLC2	HGNC	IG_C_gene	OTTHUMT00000321818.3	39	0.00	0	C	NG_000002		23243306	23243306	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390323	ensembl	human	known	69_37n	missense	10	73.68	28	SNP	0.000	T
IGSF10	285313	genome.wustl.edu	37	3	151154317	151154317	+	3'UTR	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:151154317C>A	ENST00000282466.3	-	0	8031				MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCATCAGTTCATAATGCATT	0.274																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.*160G>T	3.37:g.151154317C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YJ9|Q8N772|Q8NA84	RNA	SNP	-	NULL	ENST00000282466.3	37	NULL	CCDS3160.1	3																																																																																			IGSF10	-	-	ENSG00000152580		0.274	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	46	0.00	0	C	NM_178822		151154317	151154317	-1	no_errors	ENST00000493841	ensembl	human	known	69_37n	rna	24	35.14	13	SNP	0.728	A
IL23A	51561	genome.wustl.edu	37	12	56733796	56733798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:56733796_56733798delCTT	ENST00000228534.4	+	4	644_646	c.478_480delCTT	c.(478-480)cttdel	p.L161del	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	161					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GCAGCGTCTCCTTCTCCGCTTCA	0.586																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.478_480delCTT	12.37:g.56733796_56733798delCTT	ENSP00000228534:p.Leu161del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NZ80|Q6NZ82|Q9H2A5	In_Frame_Del	DEL	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core	p.L161in_frame_del	ENST00000228534.4	37	c.478_480	CCDS8916.1	12																																																																																			IL23A	-	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core	ENSG00000110944		0.586	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23A	HGNC	protein_coding		109	0.00	0	CTT	NM_016584		56733796	56733798	+1	no_errors	ENST00000228534	ensembl	human	known	69_37n	in_frame_del	131	28.02	51	DEL	0.991:0.995:0.991	-
IL4R	3566	genome.wustl.edu	37	16	27367219	27367219	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:27367219G>A	ENST00000395762.2	+	8	1020	c.761G>A	c.(760-762)aGc>aAc	p.S254N	IL4R_ENST00000543915.2_Missense_Mutation_p.S254N|IL4R_ENST00000380922.3_Missense_Mutation_p.S239N|IL4R_ENST00000170630.2_Missense_Mutation_p.S254N|IL4R_ENST00000565915.1_3'UTR	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	254					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGCTATGTCAGCATCACCAAG	0.617																																						dbGAP											0													116.0	93.0	101.0					16																	27367219		2197	4300	6497	-	-	-	SO:0001583	missense	0			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.761G>A	16.37:g.27367219G>A	ENSP00000379111:p.Ser254Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S254N	ENST00000395762.2	37	c.761	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	G	8.972	0.973286	0.18736	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	4.31	3.34	0.38264	.	1.243480	0.05212	N	0.506996	T	0.21062	0.0507	M	0.67953	2.075	0.19575	N	0.999969	D;D;D	0.57899	0.981;0.966;0.966	P;P;P	0.49637	0.617;0.462;0.462	T	0.15867	-1.0422	10	0.29301	T	0.29	-9.2993	9.2651	0.37636	0.0:0.0:0.7847:0.2153	.	239;254;254	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	N	254;254;239;254	ENSP00000379111:S254N;ENSP00000441667:S254N;ENSP00000370309:S239N;ENSP00000170630:S254N	ENSP00000170630:S254N	S	+	2	0	IL4R	27274720	0.051000	0.20477	0.127000	0.21898	0.040000	0.13550	2.546000	0.45778	1.013000	0.39391	0.455000	0.32223	AGC	IL4R	-	NULL	ENSG00000077238		0.617	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	114	0.00	0	G			27367219	27367219	+1	no_errors	ENST00000170630	ensembl	human	known	69_37n	missense	84	38.24	52	SNP	0.376	A
INO80	54617	genome.wustl.edu	37	15	41364252	41364252	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:41364252C>A	ENST00000361937.3	-	12	1824	c.1400G>T	c.(1399-1401)aGg>aTg	p.R467M	INO80_ENST00000401393.3_Missense_Mutation_p.R467M			Q9ULG1	INO80_HUMAN	INO80 complex subunit	467	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCAAATGACCTTGTCTGGAA	0.373																																						dbGAP											0													39.0	42.0	41.0					15																	41364252		2195	4297	6492	-	-	-	SO:0001583	missense	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1400G>T	15.37:g.41364252C>A	ENSP00000355205:p.Arg467Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R467M	ENST00000361937.3	37	c.1400	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533275	0.85812	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.91894	-2.93;-2.93	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.95475	0.8530	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.95737	0.8780	10	0.72032	D	0.01	.	18.4288	0.90618	0.0:1.0:0.0:0.0	.	467	Q9ULG1	INO80_HUMAN	M	467	ENSP00000355205:R467M;ENSP00000384686:R467M	ENSP00000355205:R467M	R	-	2	0	INO80	39151544	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.651000	0.83577	2.593000	0.87608	0.650000	0.86243	AGG	INO80	-	NULL	ENSG00000128908		0.373	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	141	0.00	0	C	NM_017553		41364252	41364252	-1	no_errors	ENST00000361937	ensembl	human	known	69_37n	missense	143	43.53	111	SNP	1.000	A
INPPL1	3636	genome.wustl.edu	37	11	71941856	71941856	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:71941856G>A	ENST00000298229.2	+	11	1418	c.1214G>A	c.(1213-1215)tGc>tAc	p.C405Y	INPPL1_ENST00000541756.1_Missense_Mutation_p.C163Y|INPPL1_ENST00000538751.1_Missense_Mutation_p.C163Y	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	405					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGGCCTTCTGCCAGCTGTTG	0.612																																						dbGAP											0													52.0	45.0	47.0					11																	71941856		2200	4293	6493	-	-	-	SO:0001583	missense	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1214G>A	11.37:g.71941856G>A	ENSP00000298229:p.Cys405Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.C405Y	ENST00000298229.2	37	c.1214	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	g	21.9	4.214447	0.79352	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.97232	-3.23;-4.3;-4.3	5.55	5.55	0.83447	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	M	0.62723	1.935	0.53688	D	0.999979	D	0.76494	0.999	D	0.83275	0.996	D	0.98048	1.0386	10	0.44086	T	0.13	.	18.0758	0.89426	0.0:0.0:1.0:0.0	.	405	O15357	SHIP2_HUMAN	Y	405;163;163	ENSP00000298229:C405Y;ENSP00000446360:C163Y;ENSP00000444619:C163Y	ENSP00000298229:C405Y	C	+	2	0	INPPL1	71619504	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.448000	0.97600	2.608000	0.88229	0.462000	0.41574	TGC	INPPL1	-	superfamily_Endo/exonuclease/phosphatase	ENSG00000165458		0.612	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	50	0.00	0	G	NM_001567		71941856	71941856	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	missense	26	50.94	27	SNP	1.000	A
INSIG2	51141	genome.wustl.edu	37	2	118865892	118865892	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:118865892G>A	ENST00000245787.4	+	6	878	c.672G>A	c.(670-672)caG>caA	p.Q224Q	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	224					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AATCTCATCAGGAATGAAGAA	0.308																																						dbGAP											0													77.0	81.0	80.0					2																	118865892		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.672G>A	2.37:g.118865892G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W8|Q8TBI8	Silent	SNP	pfam_INSIG_fam	p.Q224	ENST00000245787.4	37	c.672	CCDS2122.1	2																																																																																			INSIG2	-	NULL	ENSG00000125629		0.308	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1	91	0.00	0	G	NM_016133		118865892	118865892	+1	no_errors	ENST00000245787	ensembl	human	known	69_37n	silent	36	37.93	22	SNP	1.000	A
INSRR	3645	genome.wustl.edu	37	1	156823775	156823775	+	Missense_Mutation	SNP	G	G	A	rs554938935		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:156823775G>A	ENST00000368195.3	-	2	802	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	136					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACAGCCCCACGCAGCACGGCC	0.632																																						dbGAP											0													54.0	48.0	50.0					1																	156823775		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.406C>T	1.37:g.156823775G>A	ENSP00000357178:p.Arg136Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60724|Q5VZS3	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R136C	ENST00000368195.3	37	c.406	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465207	0.63513	.	.	ENSG00000027644	ENST00000368195	T	0.32988	1.43	5.06	2.0	0.26442	EGF receptor, L domain (1);	0.139869	0.33401	N	0.004949	T	0.10465	0.0256	.	.	.	0.45747	D	0.99864	B	0.20988	0.05	B	0.12837	0.008	T	0.06698	-1.0812	9	0.87932	D	0	.	6.6758	0.23093	0.0843:0.0:0.4757:0.44	.	136	P14616	INSRR_HUMAN	C	136	ENSP00000357178:R136C	ENSP00000357178:R136C	R	-	1	0	INSRR	155090399	0.881000	0.30235	0.988000	0.46212	0.960000	0.62799	2.460000	0.45031	0.539000	0.28788	0.557000	0.71058	CGT	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000027644		0.632	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	24	0.00	0	G	NM_014215		156823775	156823775	-1	no_errors	ENST00000368195	ensembl	human	known	69_37n	missense	28	25.64	10	SNP	0.925	A
INTS4L1	285905	genome.wustl.edu	37	7	64646884	64646884	+	RNA	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:64646884T>C	ENST00000587624.1	+	0	1134							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		GTTCCTGCCTTGAGGGTATGT	0.423																																						dbGAP											0																																										-	-	-			0					7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64646884T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000587624.1	37	NULL		7																																																																																			INTS4L1	-	-	ENSG00000164669		0.423	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	INTS4L1	HGNC	pseudogene	OTTHUMT00000460821.1	53	0.00	0	T	XR_041315		64646884	64646884	+1	no_errors	ENST00000587624	ensembl	human	known	69_37n	rna	36	37.93	22	SNP	1.000	C
INTS4L2	644619	genome.wustl.edu	37	7	65157819	65157819	+	RNA	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:65157819T>C	ENST00000430126.2	+	0	1146							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		GTTCCTGCCTTGAGGGTATGT	0.443																																						dbGAP											0																																										-	-	-			0			BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65157819T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430126.2	37	NULL		7																																																																																			INTS4L2	-	-	ENSG00000232270		0.443	INTS4L2-002	KNOWN	basic	processed_transcript	INTS4L2	HGNC	pseudogene	OTTHUMT00000345545.2	216	0.00	0	T	NR_027392		65157819	65157819	+1	no_errors	ENST00000430126	ensembl	human	known	69_37n	rna	248	14.48	42	SNP	1.000	C
INTS5	80789	genome.wustl.edu	37	11	62416467	62416467	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:62416467C>T	ENST00000330574.2	-	2	1137	c.1085G>A	c.(1084-1086)tGc>tAc	p.C362Y	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	362					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGGCTTGAGGCAATCCACAAG	0.597																																						dbGAP											0													44.0	46.0	45.0					11																	62416467		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1085G>A	11.37:g.62416467C>T	ENSP00000327889:p.Cys362Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6W5|Q9C0G5	Missense_Mutation	SNP	NULL	p.C362Y	ENST00000330574.2	37	c.1085	CCDS8027.1	11	.	.	.	.	.	.	.	.	.	.	C	2.547	-0.304933	0.05495	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.58	4.58	0.56647	.	0.272836	0.35838	N	0.002952	T	0.25082	0.0609	N	0.22421	0.69	0.30803	N	0.739652	B	0.26602	0.154	B	0.14578	0.011	T	0.13308	-1.0514	9	0.17369	T	0.5	.	10.7266	0.46072	0.0:0.8069:0.193:0.0	.	362	Q6P9B9	INT5_HUMAN	Y	362	.	ENSP00000327889:C362Y	C	-	2	0	INTS5	62173043	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.101000	0.50283	2.381000	0.81170	0.650000	0.86243	TGC	INTS5	-	NULL	ENSG00000185085		0.597	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	58	0.00	0	C	NM_030628		62416467	62416467	-1	no_errors	ENST00000330574	ensembl	human	known	69_37n	missense	54	32.93	27	SNP	0.993	T
IPO4	79711	genome.wustl.edu	37	14	24651365	24651365	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:24651365T>C	ENST00000354464.6	-	26	2779	c.2603A>G	c.(2602-2604)cAg>cGg	p.Q868R	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	868					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGTGCAGCCCTGTTTCTGATG	0.597																																						dbGAP											0													53.0	57.0	56.0					14																	24651365		2051	4218	6269	-	-	-	SO:0001583	missense	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2603A>G	14.37:g.24651365T>C	ENSP00000346453:p.Gln868Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.Q868R	ENST00000354464.6	37	c.2603	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268366	0.23136	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.09723	2.95	5.54	3.12	0.35913	Armadillo-like helical (1);Armadillo-type fold (1);	0.280602	0.34603	N	0.003839	T	0.03390	0.0098	N	0.02539	-0.55	0.25802	N	0.984499	B;B	0.06786	0.0;0.001	B;B	0.14023	0.004;0.01	T	0.42120	-0.9470	10	0.19590	T	0.45	-16.5683	5.3637	0.16101	0.0:0.0925:0.2656:0.6419	.	868;868	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	R	868;544	ENSP00000346453:Q868R	ENSP00000346453:Q868R	Q	-	2	0	IPO4	23721205	1.000000	0.71417	0.990000	0.47175	0.898000	0.52572	4.352000	0.59404	2.234000	0.73211	0.460000	0.39030	CAG	IPO4	-	superfamily_ARM-type_fold	ENSG00000196497		0.597	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	42	0.00	0	T	NM_024658		24651365	24651365	-1	no_errors	ENST00000354464	ensembl	human	known	69_37n	missense	27	45.10	23	SNP	0.554	C
IPO8	10526	genome.wustl.edu	37	12	30816578	30816578	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:30816578A>G	ENST00000256079.4	-	14	1777	c.1439T>C	c.(1438-1440)gTa>gCa	p.V480A	IPO8_ENST00000544829.1_Missense_Mutation_p.V275A	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	480					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGCATGAAGTACCCAGCAAGA	0.328																																						dbGAP											0													72.0	69.0	70.0					12																	30816578		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1439T>C	12.37:g.30816578A>G	ENSP00000256079:p.Val480Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7M3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.V480A	ENST00000256079.4	37	c.1439	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929217	0.52759	.	.	ENSG00000133704	ENST00000256079;ENST00000544829	T;T	0.64085	-0.08;-0.08	5.0	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.115293	0.64402	D	0.000020	T	0.60599	0.2281	M	0.74881	2.28	0.54753	D	0.999984	P;B	0.36577	0.558;0.148	B;B	0.35899	0.213;0.056	T	0.64765	-0.6330	10	0.51188	T	0.08	-21.6423	10.2709	0.43483	0.9216:0.0:0.0784:0.0	.	275;480	B7Z7M3;O15397	.;IPO8_HUMAN	A	480;275	ENSP00000256079:V480A;ENSP00000444520:V275A	ENSP00000256079:V480A	V	-	2	0	IPO8	30707845	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.215000	0.77966	1.994000	0.58287	0.482000	0.46254	GTA	IPO8	-	superfamily_ARM-type_fold	ENSG00000133704		0.328	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	143	0.00	0	A	NM_006390		30816578	30816578	-1	no_errors	ENST00000256079	ensembl	human	known	69_37n	missense	64	46.67	56	SNP	1.000	G
IQCE	23288	genome.wustl.edu	37	7	2641075	2641075	+	Splice_Site	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:2641075delA	ENST00000402050.2	+	18	1793	c.1609delA	c.(1609-1611)aaa>aa	p.K539fs	IQCE_ENST00000404984.1_Splice_Site_p.K488fs|IQCE_ENST00000325979.7_Splice_Site_p.K474fs|IQCE_ENST00000438376.2_Splice_Site_p.K523fs	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	539	Poly-Lys.					mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TTTTTTCCAGAAAAAAAAGGC	0.338																																						dbGAP											0													127.0	126.0	126.0					7																	2641075		1815	4073	5888	-	-	-	SO:0001630	splice_region_variant	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1609-1A>-	7.37:g.2641075delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Frame_Shift_Del	DEL	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.K539fs	ENST00000402050.2	37	c.1609	CCDS43542.1	7																																																																																			IQCE	-	NULL	ENSG00000106012		0.338	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	65	0.00	0	A	NM_152558	Frame_Shift_Del	2641075	2641075	+1	no_errors	ENST00000402050	ensembl	human	known	69_37n	frame_shift_del	41	28.07	16	DEL	1.000	-
IRF5	3663	genome.wustl.edu	37	7	128588315	128588317	+	In_Frame_Del	DEL	TCT	TCT	-	rs576256045	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:128588315_128588317delTCT	ENST00000402030.2	+	8	1256_1258	c.1184_1186delTCT	c.(1183-1188)atcttc>atc	p.F397del	IRF5_ENST00000249375.4_In_Frame_Del_p.F397del|IRF5_ENST00000473745.1_In_Frame_Del_p.F397del|IRF5_ENST00000357234.5_In_Frame_Del_p.F413del|IRF5_ENST00000477535.1_In_Frame_Del_p.F311del	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	397					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCCTTCGAGATCTTCTTCTGCTT	0.537																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1184_1186delTCT	7.37:g.128588321_128588323delTCT	ENSP00000385352:p.Phe397del	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	In_Frame_Del	DEL	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.F413in_frame_del	ENST00000402030.2	37	c.1232_1234	CCDS5808.1	7																																																																																			IRF5	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000128604		0.537	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	HGNC	protein_coding	OTTHUMT00000350934.1	167	0.00	0	TCT	NM_001098627		128588315	128588317	+1	no_errors	ENST00000357234	ensembl	human	known	69_37n	in_frame_del	68	37.27	41	DEL	1.000:0.999:1.000	-
IRX1	79192	genome.wustl.edu	37	5	3600794	3600797	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:3600794_3600797delAAGT	ENST00000302006.3	+	3	1436_1437	c.1384_1385delAAGT	c.(1384-1386)aag>g	p.K462fs	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	462					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTACGCGACAAGTGAGTGCTGTT	0.647																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1385+1AAGT>-	5.37:g.3600794_3600797delAAGT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z2F8|Q8N312	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.N462fs	ENST00000302006.3	37	c.1384_1385	CCDS34132.1	5																																																																																			IRX1	-	NULL	ENSG00000170549		0.647	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	16	0.00	0	AAGT	NM_024337	Frame_Shift_Del	3600794	3600797	+1	no_errors	ENST00000302006	ensembl	human	known	69_37n	frame_shift_del	13	27.27	6	DEL	1.000:1.000	-
ITGA10	8515	genome.wustl.edu	37	1	145535893	145535893	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:145535893A>G	ENST00000369304.3	+	16	2256	c.2081A>G	c.(2080-2082)cAc>cGc	p.H694R	ITGA10_ENST00000538811.1_Missense_Mutation_p.H563R|ITGA10_ENST00000539363.1_Missense_Mutation_p.H551R	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	694					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCTGGGATCACCAATTCTGT	0.537																																						dbGAP											0													100.0	95.0	97.0					1																	145535893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2081A>G	1.37:g.145535893A>G	ENSP00000358310:p.His694Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H694R	ENST00000369304.3	37	c.2081	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	A	2.154	-0.393906	0.04899	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.44881	0.91;0.91;0.91	5.55	-0.817	0.10836	Integrin alpha-2 (1);	0.890365	0.09761	N	0.759259	T	0.05593	0.0147	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.41556	-0.9502	10	0.25106	T	0.35	.	8.9742	0.35926	0.4128:0.0:0.5872:0.0	.	660;563;551;694	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	R	694;660;551;563	ENSP00000358310:H694R;ENSP00000439894:H551R;ENSP00000440011:H563R	ENSP00000358310:H694R	H	+	2	0	ITGA10	144247250	0.011000	0.17503	0.001000	0.08648	0.738000	0.42128	0.892000	0.28322	-0.093000	0.12396	-0.271000	0.10264	CAC	ITGA10	-	pfam_Integrin_alpha-2	ENSG00000143127		0.537	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	290	0.00	0	A	NM_003637		145535893	145535893	+1	no_errors	ENST00000369304	ensembl	human	known	69_37n	missense	332	29.75	141	SNP	0.002	G
ITGA11	22801	genome.wustl.edu	37	15	68617522	68617522	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:68617522G>T	ENST00000315757.7	-	18	2355	c.2269C>A	c.(2269-2271)Cct>Act	p.P757T	ITGA11_ENST00000423218.2_Missense_Mutation_p.P757T	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	757					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CCATGGTCAGGGTCCTCCAGG	0.632																																						dbGAP											0													82.0	87.0	85.0					15																	68617522		2120	4229	6349	-	-	-	SO:0001583	missense	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2269C>A	15.37:g.68617522G>T	ENSP00000327290:p.Pro757Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.P757T	ENST00000315757.7	37	c.2269	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	G	5.159	0.214870	0.09810	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.46819	0.86;0.86	4.81	2.86	0.33363	Integrin alpha-2 (1);	0.349443	0.33772	N	0.004573	T	0.38772	0.1053	L	0.40543	1.245	0.09310	N	1	B;B	0.30211	0.012;0.273	B;B	0.40410	0.038;0.328	T	0.27191	-1.0081	10	0.23302	T	0.38	.	4.6599	0.12637	0.0816:0.1527:0.6072:0.1584	.	757;757	A8K8T0;Q9UKX5	.;ITA11_HUMAN	T	757;757;392	ENSP00000327290:P757T;ENSP00000403392:P757T	ENSP00000327290:P757T	P	-	1	0	ITGA11	66404576	0.976000	0.34144	0.900000	0.35374	0.984000	0.73092	2.010000	0.40913	0.415000	0.25817	0.561000	0.74099	CCT	ITGA11	-	pfam_Integrin_alpha-2	ENSG00000137809		0.632	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		64	0.00	0	G	NM_012211		68617522	68617522	-1	no_errors	ENST00000315757	ensembl	human	known	69_37n	missense	48	47.83	44	SNP	0.053	T
ITPR2	3709	genome.wustl.edu	37	12	26553193	26553193	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:26553193T>C	ENST00000381340.3	-	53	7816		c.e53-2		RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						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)	CTTCATCAGCTATAAAAACAC	0.313																																						dbGAP											0													68.0	63.0	65.0					12																	26553193		1832	4076	5908	-	-	-	SO:0001630	splice_region_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.7400-2A>G	12.37:g.26553193T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94773	Splice_Site	SNP	-	e53-2	ENST00000381340.3	37	c.7400-2	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929854	0.34096	.	.	ENSG00000123104	ENST00000381340	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.29538	N	0.852319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.906	0.58152	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITPR2	26444460	0.990000	0.36364	0.289000	0.24876	0.275000	0.26752	2.776000	0.47709	2.030000	0.59900	0.460000	0.39030	.	ITPR2	-	-	ENSG00000123104		0.313	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	254	0.00	0	T	NM_002223	Intron	26553193	26553193	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	splice_site	154	40.77	106	SNP	0.304	C
ITPR3	3710	genome.wustl.edu	37	6	33661382	33661382	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:33661382A>C	ENST00000374316.5	+	57	8745	c.7685A>C	c.(7684-7686)gAg>gCg	p.E2562A	ITPR3_ENST00000605930.1_Missense_Mutation_p.E2562A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2562					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ATCAAGCTGGAGCACAACATG	0.512																																						dbGAP											0													162.0	127.0	139.0					6																	33661382		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7685A>C	6.37:g.33661382A>C	ENSP00000363435:p.Glu2562Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14649|Q5TAQ2	Missense_Mutation	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,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.E2562A	ENST00000374316.5	37	c.7685	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	A	29.6	5.019221	0.93462	.	.	ENSG00000096433	ENST00000374316	T	0.44083	0.93	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.92880	3.355	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.989	T	0.77416	-0.2596	10	0.87932	D	0	-39.0666	15.3737	0.74587	1.0:0.0:0.0:0.0	.	2562;2232	Q14573;Q59ES2	ITPR3_HUMAN;.	A	2562	ENSP00000363435:E2562A	ENSP00000363435:E2562A	E	+	2	0	ITPR3	33769360	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.339000	0.96797	2.044000	0.60594	0.379000	0.24179	GAG	ITPR3	-	NULL	ENSG00000096433		0.512	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	55	0.00	0	A	NM_002224		33661382	33661382	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	C
JAK1	3716	genome.wustl.edu	37	1	65300318	65300318	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:65300318C>T	ENST00000342505.4	-	25	3640	c.3392G>A	c.(3391-3393)tGc>tAc	p.C1131Y		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1131	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAATTCCCAGCATTTCCTCAT	0.308			Mis		ALL																																	dbGAP		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													95.0	89.0	91.0					1																	65300318		1802	4070	5872	-	-	-	SO:0001583	missense	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3392G>A	1.37:g.65300318C>T	ENSP00000343204:p.Cys1131Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GQ2|Q9UD26	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.C1131Y	ENST00000342505.4	37	c.3392	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999546	0.74818	.	.	ENSG00000162434	ENST00000342505	D	0.90004	-2.6	5.01	4.1	0.47936	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.95529	0.8547	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97054	0.9766	9	0.87932	D	0	-4.4001	15.6334	0.76929	0.0:0.8625:0.1375:0.0	.	1131	P23458	JAK1_HUMAN	Y	1131	ENSP00000343204:C1131Y	ENSP00000343204:C1131Y	C	-	2	0	JAK1	65072906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.517000	0.73759	1.319000	0.45190	0.650000	0.86243	TGC	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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	ENSG00000162434		0.308	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	163	0.00	0	C	NM_002227		65300318	65300318	-1	no_errors	ENST00000342505	ensembl	human	known	69_37n	missense	86	26.50	31	SNP	1.000	T
JAM2	58494	genome.wustl.edu	37	21	27084545	27084545	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:27084545G>A	ENST00000480456.1	+	9	1371				JAM2_ENST00000400532.1_Intron|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000312957.5_Splice_Site|JAM2_ENST00000477351.1_Intron	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2						blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ATATGTTCATGTTCTTGCTGA	0.284																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.822-107G>A	21.37:g.27084545G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Splice_Site	SNP	-	e8+1	ENST00000480456.1	37	c.821+1	CCDS42911.1	21	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232210	0.05983	.	.	ENSG00000154721	ENST00000312957	.	.	.	3.54	-1.21	0.09524	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	0.00705	0.1629:0.2984:0.2155:0.3232	.	.	.	.	.	-1	.	.	.	+	.	.	JAM2	26006416	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.228000	0.09114	-0.257000	0.09459	0.655000	0.94253	.	JAM2	-	-	ENSG00000154721		0.284	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JAM2	HGNC	protein_coding	OTTHUMT00000171347.1	61	0.00	0	G			27084545	27084545	+1	no_errors	ENST00000312957	ensembl	human	known	69_37n	splice_site	29	34.09	15	SNP	0.000	A
JMJD7	100137047	genome.wustl.edu	37	15	42127256	42127256	+	Missense_Mutation	SNP	G	G	A	rs533259141		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:42127256G>A	ENST00000397299.4	+	3	347	c.307G>A	c.(307-309)Gct>Act	p.A103T	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.A103T|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.A103T|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.A103T|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7-PLA2G4B_ENST00000476036.1_3'UTR|JMJD7_ENST00000408047.1_Missense_Mutation_p.A4T	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	103										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						CATGATGCCAGCTGAGCGCCG	0.637																																						dbGAP											0													88.0	91.0	90.0					15																	42127256		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.307G>A	15.37:g.42127256G>A	ENSP00000380467:p.Ala103Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_JmjC_dom,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.A103T	ENST00000397299.4	37	c.307	CCDS45240.1	15	.	.	.	.	.	.	.	.	.	.	.	28.3	4.909020	0.92107	.	.	ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000408047;ENST00000431823;ENST00000405106;ENST00000542534;ENST00000335032;ENST00000382448;ENST00000342159	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	4.54	4.54	0.55810	.	0.143817	0.32769	N	0.005661	T	0.40398	0.1115	L	0.49126	1.545	0.38007	D	0.934413	D;D;P	0.67145	0.988;0.996;0.85	P;P;P	0.61722	0.794;0.893;0.601	T	0.25467	-1.0131	10	0.17369	T	0.5	0.0031	17.2878	0.87146	0.0:0.0:1.0:0.0	.	103;103;103	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	T	103;4;4;4;103;4;103;103	ENSP00000380467:A103T;ENSP00000384174:A4T;ENSP00000399600:A4T;ENSP00000441905:A103T;ENSP00000371886:A103T;ENSP00000342785:A103T	ENSP00000380467:A103T	A	+	1	0	JMJD7-PLA2G4B;JMJD7	39914548	1.000000	0.71417	0.746000	0.31095	0.564000	0.35744	9.372000	0.97165	2.232000	0.73038	0.655000	0.94253	GCT	JMJD7-PLA2G4B	-	NULL	ENSG00000168970		0.637	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000326082.1	24	0.00	0	G	NM_001114632		42127256	42127256	+1	no_errors	ENST00000382448	ensembl	human	known	69_37n	missense	12	55.56	15	SNP	0.999	A
KALRN	8997	genome.wustl.edu	37	3	124175525	124175525	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:124175525C>T	ENST00000240874.3	+	23	3955	c.3798C>T	c.(3796-3798)gaC>gaT	p.D1266D	KALRN_ENST00000460856.1_Silent_p.D1257D|KALRN_ENST00000360013.3_Silent_p.D1266D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1266					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTGCGGGACGCCAACCACG	0.557																																						dbGAP											0													105.0	100.0	102.0					3																	124175525		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3798C>T	3.37:g.124175525C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.T1235M	ENST00000240874.3	37	c.3704	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	C	9.785	1.176432	0.21704	.	.	ENSG00000160145	ENST00000354186	.	.	.	4.88	-9.12	0.00707	.	.	.	.	.	T	0.59972	0.2233	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68401	-0.5418	4	.	.	.	.	15.3034	0.73972	0.0:0.5754:0.0:0.4246	.	.	.	.	M	1235	.	.	T	+	2	0	KALRN	125658215	0.014000	0.17966	0.808000	0.32385	0.960000	0.62799	-0.945000	0.03909	-1.767000	0.01300	-0.966000	0.02617	ACG	KALRN	-	NULL	ENSG00000160145		0.557	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	114	0.00	0	C	NM_003947		124175525	124175525	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000354186	ensembl	human	novel	69_37n	missense	124	38.00	76	SNP	0.779	T
KANSL1L	151050	genome.wustl.edu	37	2	210905211	210905212	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:210905211_210905212insT	ENST00000281772.9	-	8	2224_2225	c.1961_1962insA	c.(1960-1962)aagfs	p.K654fs	KANSL1L_ENST00000452086.1_Frame_Shift_Ins_p.K654fs|AC007038.7_ENST00000452057.1_RNA|KANSL1L_ENST00000418791.1_Frame_Shift_Ins_p.K654fs|KANSL1L_ENST00000457374.1_Frame_Shift_Ins_p.K654fs	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	654						histone acetyltransferase complex (GO:0000123)											TTATTTCAGTCTTTTTTAACAG	0.287																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1962dupA	2.37:g.210905217_210905217dupT	ENSP00000281772:p.Lys654fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Frame_Shift_Ins	INS	NULL	p.T655fs	ENST00000281772.9	37	c.1962_1961	CCDS33370.1	2																																																																																			KANSL1L	-	NULL	ENSG00000144445		0.287	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	HGNC	protein_coding	OTTHUMT00000336633.3	155	0.00	0	-	NM_152519		210905211	210905212	-1	no_errors	ENST00000281772	ensembl	human	known	69_37n	frame_shift_ins	59	37.23	35	INS	0.955:0.957	T
KCNA5	3741	genome.wustl.edu	37	12	5153959	5153959	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:5153959G>T	ENST00000252321.3	+	1	875	c.646G>T	c.(646-648)Gat>Tat	p.D216Y		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	216					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTTCCGCGAGGATGAGGGCTT	0.637																																						dbGAP											0													50.0	56.0	54.0					12																	5153959		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.646G>T	12.37:g.5153959G>T	ENSP00000252321:p.Asp216Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.D216Y	ENST00000252321.3	37	c.646	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959885	0.74016	.	.	ENSG00000130037	ENST00000252321	T	0.76709	-1.04	4.77	4.77	0.60923	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	D	0.90174	0.6929	M	0.93016	3.37	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.92675	0.6153	10	0.87932	D	0	.	16.9696	0.86295	0.0:0.0:1.0:0.0	.	216	P22460	KCNA5_HUMAN	Y	216	ENSP00000252321:D216Y	ENSP00000252321:D216Y	D	+	1	0	KCNA5	5024220	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.580000	0.98207	2.478000	0.83669	0.561000	0.74099	GAT	KCNA5	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1	ENSG00000130037		0.637	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	63	0.00	0	G	NM_002234		5153959	5153959	+1	no_errors	ENST00000252321	ensembl	human	known	69_37n	missense	47	38.46	30	SNP	1.000	T
KCNB1	3745	genome.wustl.edu	37	20	47990236	47990236	+	Missense_Mutation	SNP	C	C	A	rs201960228		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:47990236C>A	ENST00000371741.4	-	2	2027	c.1861G>T	c.(1861-1863)Gcc>Tcc	p.A621S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	621					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ACTTCTGGGGCTGTGCTGCCC	0.582																																						dbGAP											0													33.0	34.0	34.0					20																	47990236		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1861G>T	20.37:g.47990236C>A	ENSP00000360806:p.Ala621Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14193	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.A621S	ENST00000371741.4	37	c.1861	CCDS13418.1	20	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.152205	0.01700	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.28666	1.6	5.7	4.75	0.60458	.	0.824631	0.11373	N	0.570666	T	0.14787	0.0357	N	0.11427	0.14	0.09310	N	1	B	0.14805	0.011	B	0.17979	0.02	T	0.33574	-0.9863	10	0.13108	T	0.6	.	5.1967	0.15243	0.1394:0.5171:0.2696:0.074	.	621	Q14721	KCNB1_HUMAN	S	621;576	ENSP00000360806:A621S	ENSP00000360806:A621S	A	-	1	0	KCNB1	47423643	0.012000	0.17670	0.322000	0.25334	0.340000	0.28889	0.994000	0.29693	1.385000	0.46445	0.655000	0.94253	GCC	KCNB1	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000158445		0.582	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	62	0.00	0	C	NM_004975		47990236	47990236	-1	no_errors	ENST00000371741	ensembl	human	known	69_37n	missense	47	39.74	31	SNP	0.034	A
KCNJ10	3766	genome.wustl.edu	37	1	160012018	160012018	+	Frame_Shift_Del	DEL	G	G	-	rs372156619		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:160012018delG	ENST00000368089.3	-	2	531	c.305delC	c.(304-306)ccgfs	p.P102fs	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	102					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GTGGTTGGCCGGGGGGTCCAG	0.587																																					GBM(167;1368 2014 14817 36425 43215)	dbGAP											0													95.0	100.0	98.0					1																	160012018		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.305delC	1.37:g.160012018delG	ENSP00000357068:p.Pro102fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KME7|Q5VUT9|Q8N4I7|Q92808	Frame_Shift_Del	DEL	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1	p.P102fs	ENST00000368089.3	37	c.305	CCDS1193.1	1																																																																																			KCNJ10	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir	ENSG00000177807		0.587	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ10	HGNC	protein_coding	OTTHUMT00000060629.1	260	0.00	0	G	NM_002241		160012018	160012018	-1	no_errors	ENST00000368089	ensembl	human	known	69_37n	frame_shift_del	366	22.89	111	DEL	0.995	-
KCNH1	3756	genome.wustl.edu	37	1	211192496	211192496	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:211192496C>T	ENST00000271751.4	-	6	688	c.661G>A	c.(661-663)Gat>Aat	p.D221N	KCNH1_ENST00000367007.4_Missense_Mutation_p.D221N			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	221					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATGATCCAATCCCACGTGGTC	0.463																																						dbGAP											0													93.0	89.0	90.0					1																	211192496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.661G>A	1.37:g.211192496C>T	ENSP00000271751:p.Asp221Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.D221N	ENST00000271751.4	37	c.661	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724855	0.89298	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97710	-4.5;-4.5	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.98969	0.9649	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.99731	1.1012	10	0.87932	D	0	.	17.2719	0.87104	0.0:1.0:0.0:0.0	.	221;221	Q14CL3;O95259	.;KCNH1_HUMAN	N	221	ENSP00000271751:D221N;ENSP00000355974:D221N	ENSP00000271751:D221N	D	-	1	0	KCNH1	209259119	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.474000	0.81024	2.326000	0.78906	0.462000	0.41574	GAT	KCNH1	-	prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000143473		0.463	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	201	0.00	0	C	NM_002238		211192496	211192496	-1	no_errors	ENST00000271751	ensembl	human	known	69_37n	missense	197	30.63	87	SNP	1.000	T
KCNK16	83795	genome.wustl.edu	37	6	39284652	39284652	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:39284652C>A	ENST00000373229.5	-	4	580	c.567G>T	c.(565-567)atG>atT	p.M189I	KCNK16_ENST00000373227.4_Missense_Mutation_p.M189I|KCNK16_ENST00000507712.1_Missense_Mutation_p.M124I|KCNK16_ENST00000437525.2_Missense_Mutation_p.M189I|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000425054.2_Missense_Mutation_p.M189I|KCNK17_ENST00000373231.4_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	189					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GGCTGAAGACCATGGGTGGGA	0.562																																						dbGAP											0													116.0	115.0	115.0					6																	39284652		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.567G>T	6.37:g.39284652C>A	ENSP00000362326:p.Met189Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.M189I	ENST00000373229.5	37	c.567	CCDS4843.1	6	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292685	0.23564	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.5	4.63	0.57726	Ion transport 2 (1);	0.202066	0.50627	N	0.000102	T	0.06234	0.0161	N	0.12920	0.275	0.33118	D	0.541428	B;B;B;B	0.17667	0.001;0.0;0.023;0.005	B;B;B;B	0.17098	0.002;0.0;0.006;0.017	T	0.18903	-1.0322	10	0.13470	T	0.59	.	15.9776	0.80083	0.0:0.8647:0.1353:0.0	.	189;189;189;189	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	I	189;189;124;189;189	ENSP00000362326:M189I;ENSP00000391498:M189I;ENSP00000423842:M124I;ENSP00000362324:M189I;ENSP00000415375:M189I	ENSP00000362324:M189I	M	-	3	0	KCNK16	39392630	0.006000	0.16342	0.771000	0.31576	0.465000	0.32709	0.113000	0.15499	1.322000	0.45245	0.561000	0.74099	ATG	KCNK16	-	pfam_Ion_trans_2	ENSG00000095981		0.562	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	192	0.00	0	C	NM_032115		39284652	39284652	-1	no_errors	ENST00000425054	ensembl	human	known	69_37n	missense	111	44.83	91	SNP	0.834	A
KCNK18	338567	genome.wustl.edu	37	10	118957048	118957048	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:118957048C>A	ENST00000334549.1	+	1	49	c.49C>A	c.(49-51)Ctg>Atg	p.L17M		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	17					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)		CCCAGAGGCCCTGGGAAAGCT	0.632																																						dbGAP											0													72.0	66.0	68.0					10																	118957048		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.49C>A	10.37:g.118957048C>A	ENSP00000334650:p.Leu17Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQQ8	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.L17M	ENST00000334549.1	37	c.49	CCDS7598.1	10	.	.	.	.	.	.	.	.	.	.	C	8.346	0.829723	0.16749	.	.	ENSG00000186795	ENST00000334549	T	0.15372	2.43	4.17	-0.523	0.11924	.	0.483844	0.21857	N	0.068093	T	0.11239	0.0274	L	0.29908	0.895	0.18873	N	0.999984	P	0.47762	0.9	B	0.44224	0.444	T	0.16630	-1.0396	10	0.48119	T	0.1	.	5.1967	0.15243	0.4939:0.3981:0.0:0.108	.	17	Q7Z418	KCNKI_HUMAN	M	17	ENSP00000334650:L17M	ENSP00000334650:L17M	L	+	1	2	KCNK18	118947038	0.002000	0.14202	0.282000	0.24776	0.129000	0.20672	-0.606000	0.05654	-0.061000	0.13110	-0.314000	0.08810	CTG	KCNK18	-	NULL	ENSG00000186795		0.632	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK18	HGNC	protein_coding	OTTHUMT00000050562.2	24	0.00	0	C	NM_181840		118957048	118957048	+1	no_errors	ENST00000334549	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	0.289	A
KCNN3	3782	genome.wustl.edu	37	1	154698440	154698440	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:154698440C>T	ENST00000271915.4	-	5	1968	c.1653G>A	c.(1651-1653)gcG>gcA	p.A551A	KCNN3_ENST00000358505.2_Silent_p.A238A|KCNN3_ENST00000361147.4_Silent_p.A246A	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	556					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CGTGCTTCTCCGCTTTGGTGA	0.572																																						dbGAP											0													122.0	101.0	108.0					1																	154698440		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1653G>A	1.37:g.154698440C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.A551	ENST00000271915.4	37	c.1653	CCDS30880.1	1																																																																																			KCNN3	-	superfamily_CaM-bd_dom	ENSG00000143603		0.572	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	28	0.00	0	C	NM_002249		154698440	154698440	-1	no_errors	ENST00000271915	ensembl	human	known	69_37n	silent	25	26.47	9	SNP	0.002	T
KDM1B	221656	genome.wustl.edu	37	6	18161612	18161612	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:18161612A>G	ENST00000297792.5	+	4	319	c.142A>G	c.(142-144)Aag>Gag	p.K48E	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000388870.2_Missense_Mutation_p.K48E|KDM1B_ENST00000397244.1_Missense_Mutation_p.K48E			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	48					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TGGCTCAGAGAAGAAGTACAG	0.453																																						dbGAP											0													258.0	206.0	224.0					6																	18161612		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.142A>G	6.37:g.18161612A>G	ENSP00000297792:p.Lys48Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.K48E	ENST00000297792.5	37	c.142	CCDS34343.1	6	.	.	.	.	.	.	.	.	.	.	A	32	5.178303	0.94846	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.34072	1.42;1.38;1.38	5.78	5.78	0.91487	.	0.219107	0.44902	N	0.000408	T	0.46600	0.1401	L	0.56769	1.78	0.80722	D	1	D	0.63880	0.993	D	0.63113	0.911	T	0.50311	-0.8843	10	0.87932	D	0	-7.5879	16.1146	0.81295	1.0:0.0:0.0:0.0	.	48	A2A2C6	.	E	48	ENSP00000373522:K48E;ENSP00000380419:K48E;ENSP00000297792:K48E	ENSP00000297792:K48E	K	+	1	0	KDM1B	18269591	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.560000	0.90712	2.200000	0.70718	0.460000	0.39030	AAG	KDM1B	-	NULL	ENSG00000165097		0.453	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	89	0.00	0	A	NM_153042		18161612	18161612	+1	no_errors	ENST00000388870	ensembl	human	known	69_37n	missense	63	34.38	33	SNP	1.000	G
KDM5A	5927	genome.wustl.edu	37	12	394653	394653	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:394653A>G	ENST00000399788.2	-	28	5404	c.5042T>C	c.(5041-5043)cTa>cCa	p.L1681P	KDM5A_ENST00000540838.1_5'UTR	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1681	Interaction with LMO2. {ECO:0000269|PubMed:9129143}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTCCATTGGTAGTTTGTAGCT	0.458			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													152.0	148.0	149.0					12																	394653		1931	4127	6058	-	-	-	SO:0001583	missense	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.5042T>C	12.37:g.394653A>G	ENSP00000382688:p.Leu1681Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L1681P	ENST00000399788.2	37	c.5042	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063536	0.55432	.	.	ENSG00000073614	ENST00000399788	D	0.86497	-2.13	4.56	4.56	0.56223	.	0.241003	0.28104	N	0.016581	T	0.79822	0.4512	N	0.14661	0.345	0.80722	D	1	P	0.51791	0.948	P	0.45377	0.478	D	0.83556	0.0104	10	0.87932	D	0	-2.3409	12.9385	0.58329	1.0:0.0:0.0:0.0	.	1681	P29375	KDM5A_HUMAN	P	1681	ENSP00000382688:L1681P	ENSP00000382688:L1681P	L	-	2	0	KDM5A	264914	1.000000	0.71417	0.998000	0.56505	0.917000	0.54804	5.663000	0.68038	2.049000	0.60858	0.460000	0.39030	CTA	KDM5A	-	NULL	ENSG00000073614		0.458	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	242	0.00	0	A	NM_005056		394653	394653	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	missense	92	39.07	59	SNP	1.000	G
KDM6A	7403	genome.wustl.edu	37	X	44918596	44918597	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:44918596_44918597delCT	ENST00000377967.4	+	12	1120_1121	c.1079_1080delCT	c.(1078-1080)actfs	p.T360fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.T360fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.T360fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.T360fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	360	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GACCTAGGCACTCTCTATGAAT	0.455			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1079_1080delCT	X.37:g.44918600_44918601delCT	ENSP00000367203:p.Thr360fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y362fs	ENST00000377967.4	37	c.1079_1080	CCDS14265.1	X																																																																																			KDM6A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147050		0.455	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	117	0.00	0	CT	NM_021140		44918596	44918597	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	frame_shift_del	62	43.64	48	DEL	1.000:0.964	-
KIAA0100	9703	genome.wustl.edu	37	17	26960090	26960090	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:26960090A>G	ENST00000528896.2	-	20	3749	c.3675T>C	c.(3673-3675)caT>caC	p.H1225H	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.H1082H|KIAA0100_ENST00000544884.1_Silent_p.H1082H|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1225						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAGTGACACTATGGTGATCAT	0.592																																						dbGAP											0													75.0	75.0	75.0					17																	26960090		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3675T>C	17.37:g.26960090A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.H1225	ENST00000528896.2	37	c.3675	CCDS32595.1	17																																																																																			KIAA0100	-	NULL	ENSG00000007202		0.592	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	98	0.00	0	A	NM_014680		26960090	26960090	-1	no_errors	ENST00000005905	ensembl	human	known	69_37n	silent	95	32.62	46	SNP	0.244	G
KIAA0100	9703	genome.wustl.edu	37	17	26966333	26966333	+	Splice_Site	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:26966333C>A	ENST00000528896.2	-	11	1303	c.1229G>T	c.(1228-1230)aGa>aTa	p.R410I	KIAA0100_ENST00000389003.3_Splice_Site_p.R267I|KIAA0100_ENST00000544884.1_Splice_Site_p.R267I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	410						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCT	0.433																																						dbGAP											0													112.0	119.0	117.0					17																	26966333		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1229+1G>T	17.37:g.26966333C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.R410I	ENST00000528896.2	37	c.1229	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.182058	0.94885	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25912	1.83;1.77	5.4	5.4	0.78164	FMP27, N-terminal (1);	0.087058	0.85682	D	0.000000	T	0.38772	0.1053	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.06770	-1.0808	9	.	.	.	.	19.3711	0.94488	0.0:1.0:0.0:0.0	.	410	Q14667	K0100_HUMAN	I	410;410;410;267	ENSP00000436773:R410I;ENSP00000446443:R267I	.	R	-	2	0	KIAA0100	23990460	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.149000	0.71795	2.814000	0.96858	0.563000	0.77884	AGA	KIAA0100	-	pfam_FMP27_N	ENSG00000007202		0.433	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	146	0.00	0	C	NM_014680	Missense_Mutation	26966333	26966333	-1	no_errors	ENST00000005905	ensembl	human	known	69_37n	missense	112	36.00	63	SNP	1.000	A
KIAA0368	23392	genome.wustl.edu	37	9	114137473	114137473	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:114137473A>G	ENST00000338205.5	-	37	4249	c.4030T>C	c.(4030-4032)Tac>Cac	p.Y1344H	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.Y1522H			Q5VYK3	ECM29_HUMAN	KIAA0368	1350					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATCAAGGTATTGCAGGCAC	0.428																																						dbGAP											0													88.0	83.0	84.0					9																	114137473		1956	4143	6099	-	-	-	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4030T>C	9.37:g.114137473A>G	ENSP00000339889:p.Tyr1344His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Y1522H	ENST00000338205.5	37	c.4564		9	.	.	.	.	.	.	.	.	.	.	A	13.28	2.191096	0.38707	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66280	-0.2	5.68	3.27	0.37495	.	0.138991	0.48767	N	0.000162	T	0.38081	0.1027	N	0.15975	0.35	0.80722	D	1	B	0.12013	0.005	B	0.15052	0.012	T	0.07328	-1.0778	10	0.23891	T	0.37	.	4.9404	0.13963	0.7202:0.0:0.1435:0.1363	.	819	B3KXF2	.	H	1344;1522;819	ENSP00000259335:Y1522H	ENSP00000259335:Y1522H	Y	-	1	0	KIAA0368	113177294	1.000000	0.71417	0.674000	0.29902	0.978000	0.69477	5.569000	0.67391	0.391000	0.25143	0.455000	0.32223	TAC	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.428	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	204	0.00	0	A	NM_014686		114137473	114137473	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	missense	140	32.69	68	SNP	1.000	G
KIAA0408	9729	genome.wustl.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398																																						dbGAP											0													236.0	227.0	230.0					6																	127767596		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1868delG	6.37:g.127767596delC	ENSP00000435150:p.Gly623fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	NULL	p.G623fs	ENST00000483725.3	37	c.1868	CCDS34531.1	6																																																																																			KIAA0408	-	NULL	ENSG00000189367		0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	544	0.00	0	C	NM_014702		127767596	127767596	-1	no_errors	ENST00000483725	ensembl	human	novel	69_37n	frame_shift_del	307	31.21	142	DEL	0.230	-
KIAA0430	9665	genome.wustl.edu	37	16	15729901	15729901	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:15729901A>G	ENST00000396368.3	-	3	649	c.443T>C	c.(442-444)gTa>gCa	p.V148A	KIAA0430_ENST00000548025.1_Missense_Mutation_p.V148A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V148A|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000540441.2_Missense_Mutation_p.V148A|KIAA0430_ENST00000551742.1_Missense_Mutation_p.V148A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	148					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCCTGACCCTACCTGACACGT	0.532																																						dbGAP											0													191.0	191.0	191.0					16																	15729901		2087	4217	6304	-	-	-	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.443T>C	16.37:g.15729901A>G	ENSP00000379654:p.Val148Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.V148A	ENST00000396368.3	37	c.443	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794617	0.70452	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742;ENST00000551298;ENST00000549219	.	.	.	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000018	T	0.66426	0.2788	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.996;0.996;0.996;0.994	P;D;D;D;D	0.76071	0.84;0.987;0.987;0.987;0.97	T	0.70490	-0.4857	9	0.87932	D	0	.	15.7075	0.77594	1.0:0.0:0.0:0.0	.	147;147;148;147;147	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	A	148;148;147;148;148;148;148	.	ENSP00000315718:V147A	V	-	2	0	KIAA0430	15637402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.814000	0.55643	2.117000	0.64856	0.533000	0.62120	GTA	KIAA0430	-	NULL	ENSG00000166783		0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	265	0.38	1	A	NM_014647		15729901	15729901	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	missense	173	38.65	109	SNP	1.000	G
CLUH	23277	genome.wustl.edu	37	17	2605211	2605211	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:2605211C>T	ENST00000570628.2	-	4	607	c.502G>A	c.(502-504)Gga>Aga	p.G168R	CLUH_ENST00000435359.1_Missense_Mutation_p.G168R|CLUH_ENST00000538975.1_Missense_Mutation_p.G168R			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	168					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CCCGCACCTCCCAGGTCGCCG	0.677																																						dbGAP											0													43.0	45.0	44.0					17																	2605211		1973	4128	6101	-	-	-	SO:0001583	missense	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.502G>A	17.37:g.2605211C>T	ENSP00000458986:p.Gly168Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	superfamily_GSKIP/TIF31_domain	p.G168R	ENST00000570628.2	37	c.502	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	c	18.42	3.621167	0.66787	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80393	-1.37;-1.37	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.78817	0.4343	L	0.56769	1.78	0.80722	D	1	P;P	0.42735	0.67;0.788	B;B	0.42245	0.381;0.381	T	0.76119	-0.3076	10	0.16896	T	0.51	.	17.4824	0.87677	0.0:1.0:0.0:0.0	.	168;168	O75153;C9J6D7	K0664_HUMAN;.	R	168	ENSP00000388872:G168R;ENSP00000439628:G168R	ENSP00000320468:G168R	G	-	1	0	KIAA0664	2551961	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	5.778000	0.68940	2.378000	0.81104	0.580000	0.79431	GGA	KIAA0664	-	NULL	ENSG00000132361		0.677	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0664	HGNC	protein_coding	OTTHUMT00000437807.2	10	0.00	0	C	NM_015229		2605211	2605211	-1	no_errors	ENST00000435359	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	1.000	T
KIAA0754	643314	genome.wustl.edu	37	1	39879896	39879896	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:39879896C>T	ENST00000530275.1	+	1	3746	c.3551C>T	c.(3550-3552)gCc>gTc	p.A1184V	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1184	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGTGCCTGCCATCCCAGCT	0.617																																						dbGAP											0													45.0	46.0	46.0					1																	39879896		2067	4206	6273	-	-	-	SO:0001583	missense	0					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3551C>T	1.37:g.39879896C>T	ENSP00000431179:p.Ala1184Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.A1184V	ENST00000530275.1	37	c.3551		1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057114	0.55325	.	.	ENSG00000255103	ENST00000530275	T	0.37584	1.19	4.92	1.86	0.25419	.	.	.	.	.	T	0.21427	0.0516	N	0.19112	0.55	0.09310	N	1	P	0.36392	0.551	B	0.34779	0.189	T	0.11991	-1.0565	9	0.52906	T	0.07	.	6.4882	0.22101	0.15:0.6768:0.0:0.1732	.	1184	O94854	K0754_HUMAN	V	1184	ENSP00000431179:A1184V	ENSP00000431179:A1184V	A	+	2	0	RP4-562N20.1	39652483	0.000000	0.05858	0.089000	0.20774	0.005000	0.04900	0.247000	0.18179	0.562000	0.29204	-0.141000	0.14075	GCC	KIAA0754	-	NULL	ENSG00000255103		0.617	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	49	0.00	0	C	NM_015038		39879896	39879896	+1	no_errors	ENST00000530275	ensembl	human	known	69_37n	missense	35	33.96	18	SNP	0.051	T
ZSWIM8	23053	genome.wustl.edu	37	10	75561275	75561275	+	Nonstop_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:75561275T>C	ENST00000605216.1	+	26	5729	c.5512T>C	c.(5512-5514)Tga>Cga	p.*1838R	ZSWIM8_ENST00000398706.2_Nonstop_Mutation_p.*1843R|ZSWIM8_ENST00000604729.1_Nonstop_Mutation_p.*1835R|ZSWIM8_ENST00000603114.1_Nonstop_Mutation_p.*1797R|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Nonstop_Mutation_p.*1656R	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	0							zinc ion binding (GO:0008270)										CTTCTCCCCCTGAGTCTTTCA	0.572																																						dbGAP											0													54.0	58.0	57.0					10																	75561275		1984	4185	6169	-	-	-	SO:0001578	stop_lost	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5512T>C	10.37:g.75561275T>C	ENSP00000474748:p.*1838Argext*5	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Nonstop_Mutation	SNP	pfscan_Znf_SWIM	p.*1843R	ENST00000605216.1	37	c.5527		10	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079828	0.55753	.	.	ENSG00000214655	ENST00000398706	.	.	.	5.99	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1223	13.4645	0.61245	0.0:0.0:0.1306:0.8693	.	.	.	.	R	1843	.	.	X	+	1	0	KIAA0913	75231281	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	7.972000	0.88022	1.068000	0.40764	0.533000	0.62120	TGA	KIAA0913	-	NULL	ENSG00000214655		0.572	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	27	0.00	0	T	NM_001242487		75561275	75561275	+1	no_errors	ENST00000398706	ensembl	human	known	69_37n	nonstop	9	43.75	7	SNP	1.000	C
CEP162	22832	genome.wustl.edu	37	6	84862695	84862695	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:84862695T>C	ENST00000403245.3	-	23	3312	c.3198A>G	c.(3196-3198)aaA>aaG	p.K1066K	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.K990K	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTTCATCATCTTTATCATTTT	0.373																																						dbGAP											0													130.0	126.0	127.0					6																	84862695		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000403245.3:c.3198A>G	6.37:g.84862695T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.K1066	ENST00000403245.3	37	c.3198	CCDS34494.2	6																																																																																			KIAA1009	-	NULL	ENSG00000135315		0.373	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	292	0.00	0	T			84862695	84862695	-1	no_errors	ENST00000403245	ensembl	human	known	69_37n	silent	153	34.05	79	SNP	0.001	C
CEP162	22832	genome.wustl.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)tttfs	p.F406fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358																																						dbGAP											0													141.0	150.0	147.0					6																	84896233		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000403245.3:c.1218delT	6.37:g.84896233delA	ENSP00000385215:p.Phe406fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.F406fs	ENST00000403245.3	37	c.1218	CCDS34494.2	6																																																																																			KIAA1009	-	NULL	ENSG00000135315		0.358	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	205	0.00	0	A			84896233	84896233	-1	no_errors	ENST00000403245	ensembl	human	known	69_37n	frame_shift_del	110	32.73	54	DEL	0.000	-
KIAA1191	57179	genome.wustl.edu	37	5	175774496	175774496	+	3'UTR	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:175774496G>A	ENST00000298569.4	-	0	1558				KIAA1191_ENST00000393725.2_3'UTR|KIAA1191_ENST00000393728.2_5'UTR|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000510164.1_Intron	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191							cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		gagccaccacgcccagcTGAT	0.498																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.*107C>T	5.37:g.175774496G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	RNA	SNP	-	NULL	ENST00000298569.4	37	NULL	CCDS4399.1	5																																																																																			KIAA1191	-	-	ENSG00000122203		0.498	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2	58	0.00	0	G	NM_020444		175774496	175774496	-1	no_errors	ENST00000393728	ensembl	human	known	69_37n	rna	49	38.75	31	SNP	0.052	A
KIAA1211	57482	genome.wustl.edu	37	4	57176871	57176871	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:57176871C>T	ENST00000504228.1	+	4	430	c.325C>T	c.(325-327)Cct>Tct	p.P109S	KIAA1211_ENST00000505410.1_3'UTR|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P109S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P102S			Q6ZU35	K1211_HUMAN	KIAA1211	109										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCTGAATCTCCCTGGAGCTGG	0.423																																						dbGAP											0													142.0	141.0	141.0					4																	57176871		1888	4111	5999	-	-	-	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.325C>T	4.37:g.57176871C>T	ENSP00000423366:p.Pro109Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.P109S	ENST00000504228.1	37	c.325	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032999	0.35893	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.11821	2.75;2.75;2.74	4.74	3.89	0.44902	.	.	.	.	.	T	0.11196	0.0273	L	0.39397	1.21	0.09310	N	0.999998	P;B;B	0.40909	0.732;0.301;0.301	B;B;B	0.37888	0.26;0.117;0.117	T	0.20042	-1.0287	9	0.56958	D	0.05	-5.1626	5.7101	0.17931	0.1929:0.7085:0.0:0.0985	.	102;102;109	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	S	109;109;102;19	ENSP00000264229:P109S;ENSP00000423366:P109S;ENSP00000444006:P102S	ENSP00000264229:P109S	P	+	1	0	KIAA1211	56871628	0.111000	0.22076	0.312000	0.25196	0.965000	0.64279	1.269000	0.33074	1.220000	0.43490	0.555000	0.69702	CCT	KIAA1211	-	NULL	ENSG00000109265		0.423	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	142	0.00	0	C	NM_020722		57176871	57176871	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	missense	66	43.10	50	SNP	0.175	T
KIAA1324	57535	genome.wustl.edu	37	1	109740205	109740206	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:109740205_109740206insC	ENST00000369939.3	+	16	2414_2415	c.2231_2232insC	c.(2230-2235)atccccfs	p.IP744fs	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Frame_Shift_Ins_p.IP657fs	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	744					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCAGTCATCATCCCCCCAGAGG	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2237dupC	1.37:g.109740211_109740211dupC	ENSP00000358955:p.Ile744fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Frame_Shift_Ins	INS	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.E747fs	ENST00000369939.3	37	c.2231_2232	CCDS794.1	1																																																																																			KIAA1324	-	superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000116299		0.550	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	108	0.00	0	-	NM_020775		109740205	109740206	+1	no_errors	ENST00000369939	ensembl	human	known	69_37n	frame_shift_ins	69	35.51	38	INS	1.000:0.985	C
KIAA1324	57535	genome.wustl.edu	37	1	109743433	109743433	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:109743433G>A	ENST00000369939.3	+	21	3067	c.2884G>A	c.(2884-2886)Gcc>Acc	p.A962T	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.A875T	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	962					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.A962T(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGACAGCTGCGCCATCATGGA	0.488											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	large_intestine(1)											106.0	95.0	99.0					1																	109743433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2884G>A	1.37:g.109743433G>A	ENSP00000358955:p.Ala962Thr	Somatic	1422	WXS	Illumina GAIIx	Phase_IV	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.A962T	ENST00000369939.3	37	c.2884	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.852699	0.97030	.	.	ENSG00000116299	ENST00000369939;ENST00000529753	T;T	0.19806	2.12;2.14	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.31888	-0.9927	10	0.87932	D	0	-31.3648	19.0678	0.93119	0.0:0.0:1.0:0.0	.	962;875;962;962	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	T	962;875	ENSP00000358955:A962T;ENSP00000434595:A875T	ENSP00000358955:A962T	A	+	1	0	KIAA1324	109544956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.732000	0.98816	2.813000	0.96785	0.655000	0.94253	GCC	KIAA1324	-	NULL	ENSG00000116299		0.488	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	132	0.00	0	G	NM_020775		109743433	109743433	+1	no_errors	ENST00000369939	ensembl	human	known	69_37n	missense	81	40.00	54	SNP	1.000	A
KIAA1407	57577	genome.wustl.edu	37	3	113750547	113750547	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:113750547C>T	ENST00000295878.3	-	7	1044	c.898G>A	c.(898-900)Gag>Aag	p.E300K	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E131K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	300										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATTTTTTCCTCATCTGGAAGA	0.303																																						dbGAP											0													81.0	78.0	79.0					3																	113750547		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.898G>A	3.37:g.113750547C>T	ENSP00000295878:p.Glu300Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.E300K	ENST00000295878.3	37	c.898	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996918	0.35226	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.44083	1.56;0.98;0.93	5.15	4.27	0.50696	.	0.531595	0.20881	N	0.083996	T	0.43545	0.1252	L	0.46741	1.465	0.80722	D	1	B;D;B	0.53619	0.082;0.961;0.275	B;P;B	0.54590	0.039;0.756;0.067	T	0.28713	-1.0035	10	0.09338	T	0.73	.	9.5975	0.39582	0.0:0.9056:0.0:0.0944	.	287;176;300	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	K	300;131;287	ENSP00000295878:E300K;ENSP00000446381:E131K;ENSP00000418099:E287K	ENSP00000295878:E300K	E	-	1	0	KIAA1407	115233237	0.988000	0.35896	0.965000	0.40720	0.559000	0.35586	1.895000	0.39778	1.536000	0.49237	0.655000	0.94253	GAG	KIAA1407	-	NULL	ENSG00000163617		0.303	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	134	0.00	0	C	NM_020817		113750547	113750547	-1	no_errors	ENST00000295878	ensembl	human	known	69_37n	missense	57	45.71	48	SNP	0.990	T
KIAA1549L	25758	genome.wustl.edu	37	11	33596308	33596308	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:33596308C>A	ENST00000321505.4	+	9	3580	c.3400C>A	c.(3400-3402)Ctg>Atg	p.L1134M	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.L1140M|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.L1140M			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1134						integral component of membrane (GO:0016021)											TTACTATACCCTGTACAACGG	0.537																																						dbGAP											0													102.0	106.0	105.0					11																	33596308		2011	4172	6183	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3400C>A	11.37:g.33596308C>A	ENSP00000315295:p.Leu1134Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU0	Missense_Mutation	SNP	NULL	p.L1140M	ENST00000321505.4	37	c.3418	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047300	0.55110	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.45	2.59	0.31030	.	0.132495	0.49916	D	0.000122	T	0.48768	0.1518	L	0.43152	1.355	0.24743	N	0.993021	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.29882	-0.9997	9	0.46703	T	0.11	-13.9301	4.7299	0.12959	0.0:0.4758:0.15:0.3742	.	1140;1140	E9PAT2;Q6ZVL6-2	.;.	M	1134;1140;1140;973	.	ENSP00000265654:L1140M	L	+	1	2	C11orf41	33552884	0.554000	0.26522	0.891000	0.34965	0.984000	0.73092	1.125000	0.31332	0.293000	0.22520	-0.140000	0.14226	CTG	KIAA1549L	-	NULL	ENSG00000110427		0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	135	0.00	0	C	NM_012194		33596308	33596308	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	63	50.39	64	SNP	0.672	A
KIAA1549L	25758	genome.wustl.edu	37	11	33604935	33604935	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:33604935C>T	ENST00000321505.4	+	10	3743	c.3563C>T	c.(3562-3564)gCg>gTg	p.A1188V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1194V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A1194V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1188						integral component of membrane (GO:0016021)											GCAGTGCTGGCGCCCATTGCC	0.552																																						dbGAP											0													41.0	43.0	42.0					11																	33604935		2132	4257	6389	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3563C>T	11.37:g.33604935C>T	ENSP00000315295:p.Ala1188Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU0	Missense_Mutation	SNP	NULL	p.A1194V	ENST00000321505.4	37	c.3581	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.704397|4.704397	0.88924|0.88924	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66157|0.66157	0.2761|0.2761	L|L	0.38692|0.38692	1.165|1.165	0.53005|0.53005	D|D	0.999964|0.999964	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.60677|0.60677	-0.7216|-0.7216	9|5	0.30854|.	T|.	0.27|.	-21.1971|-21.1971	19.5469|19.5469	0.95302|0.95302	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1194;1194|.	E9PAT2;Q6ZVL6-2|.	.;.|.	V|C	1188;1194;1194;1027|586	.|.	ENSP00000265654:A1194V|.	A|R	+|+	2|1	0|0	C11orf41|C11orf41	33561511|33561511	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.734000|0.734000	0.41952|0.41952	7.487000|7.487000	0.81328|0.81328	2.619000|2.619000	0.88677|0.88677	0.561000|0.561000	0.74099|0.74099	GCG|CGC	KIAA1549L	-	NULL	ENSG00000110427		0.552	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	15	0.00	0	C	NM_012194		33604935	33604935	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	T
KIAA2018	205717	genome.wustl.edu	37	3	113377643	113377643	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:113377643T>C	ENST00000478658.1	-	5	2903	c.2886A>G	c.(2884-2886)tcA>tcG	p.S962S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.S962S			Q68DE3	K2018_HUMAN	KIAA2018	962						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTGTTGTAGATGACAAACCAG	0.423																																						dbGAP											0													153.0	139.0	143.0					3																	113377643		1899	4124	6023	-	-	-	SO:0001819	synonymous_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2886A>G	3.37:g.113377643T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S962	ENST00000478658.1	37	c.2886	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.423	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	289	0.00	0	T	NM_001009899		113377643	113377643	-1	no_errors	ENST00000316407	ensembl	human	known	69_37n	silent	172	43.09	131	SNP	0.970	C
KIF17	57576	genome.wustl.edu	37	1	21016680	21016680	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:21016680C>T	ENST00000247986.2	-	7	1692		c.e7+1		KIF17_ENST00000490034.1_Splice_Site|KIF17_ENST00000400463.3_Splice_Site|KIF17_ENST00000375044.1_Splice_Site			Q9P2E2	KIF17_HUMAN	kinesin family member 17						ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGGGTGCCCACCTGTCTCCTT	0.602																																						dbGAP											0													45.0	40.0	42.0					1																	21016680		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1381+1G>A	1.37:g.21016680C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Splice_Site	SNP	-	e7+1	ENST00000247986.2	37	c.1381+1	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915944	0.52546	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1954	0.73084	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF17	20889267	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	5.235000	0.65348	2.258000	0.74832	0.491000	0.48974	.	KIF17	-	-	ENSG00000117245		0.602	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	21	0.00	0	C	NM_020816	Intron	21016680	21016680	-1	no_errors	ENST00000247986	ensembl	human	known	69_37n	splice_site	19	53.66	22	SNP	1.000	T
KIF18A	81930	genome.wustl.edu	37	11	28058056	28058056	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:28058056G>A	ENST00000263181.6	-	14	2394	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	702					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TATACAATAGGCTGAAGTTCT	0.378																																						dbGAP											0													97.0	99.0	99.0					11																	28058056		2202	4297	6499	-	-	-	SO:0001583	missense	0			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2104C>T	11.37:g.28058056G>A	ENSP00000263181:p.Pro702Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P702S	ENST00000263181.6	37	c.2104	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983806	0.53827	.	.	ENSG00000121621	ENST00000263181	T	0.75477	-0.94	5.87	4.92	0.64577	.	0.175925	0.51477	D	0.000096	T	0.80691	0.4671	M	0.64997	1.995	0.51482	D	0.999927	D	0.55605	0.972	P	0.54706	0.759	T	0.82400	-0.0476	10	0.87932	D	0	.	15.7106	0.77623	0.0:0.1356:0.8644:0.0	.	702	Q8NI77	KI18A_HUMAN	S	702	ENSP00000263181:P702S	ENSP00000263181:P702S	P	-	1	0	KIF18A	28014632	1.000000	0.71417	0.921000	0.36526	0.188000	0.23474	4.266000	0.58871	2.941000	0.99782	0.655000	0.94253	CCT	KIF18A	-	NULL	ENSG00000121621		0.378	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	191	0.00	0	G	NM_031217		28058056	28058056	-1	no_errors	ENST00000263181	ensembl	human	known	69_37n	missense	109	38.89	70	SNP	0.977	A
KIF26B	55083	genome.wustl.edu	37	1	245530605	245530605	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:245530605A>G	ENST00000407071.2	+	3	1375	c.935A>G	c.(934-936)cAc>cGc	p.H312R	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	312					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATCCAGGCTCACCAGTACCTG	0.597																																						dbGAP											0													22.0	29.0	27.0					1																	245530605		2101	4202	6303	-	-	-	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.935A>G	1.37:g.245530605A>G	ENSP00000385545:p.His312Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H312R	ENST00000407071.2	37	c.935	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.353016	0.61293	.	.	ENSG00000162849	ENST00000407071	T	0.78246	-1.16	5.75	5.75	0.90469	.	0.503050	0.20122	N	0.098800	T	0.81098	0.4752	L	0.60455	1.87	0.80722	D	1	P;D	0.58970	0.716;0.984	B;P	0.49922	0.297;0.626	T	0.82814	-0.0271	10	0.62326	D	0.03	.	16.0707	0.80928	1.0:0.0:0.0:0.0	.	312;312	B4DF75;Q2KJY2	.;KI26B_HUMAN	R	312	ENSP00000385545:H312R	ENSP00000385545:H312R	H	+	2	0	KIF26B	243597228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.739000	0.91574	2.194000	0.70268	0.533000	0.62120	CAC	KIF26B	-	NULL	ENSG00000162849		0.597	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	10	0.00	0	A	XM_371354		245530605	245530605	+1	no_errors	ENST00000407071	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	1.000	G
KIF2A	3796	genome.wustl.edu	37	5	61676976	61676976	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:61676976C>T	ENST00000401507.3	+	19	2242	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	KIF2A_ENST00000381103.2_Missense_Mutation_p.A624V|KIF2A_ENST00000506857.1_Missense_Mutation_p.A598V|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.A682V	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	644					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GATGAAAAGGCCCTCTTAGAG	0.343																																						dbGAP											0													123.0	133.0	130.0					5																	61676976		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1931C>T	5.37:g.61676976C>T	ENSP00000385622:p.Ala644Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A682V	ENST00000401507.3	37	c.2045	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650493	0.47362	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	T;T;T;T	0.74106	-0.64;-0.64;-0.81;-0.64	5.87	5.87	0.94306	.	0.180808	0.49916	D	0.000121	T	0.59838	0.2223	N	0.24115	0.695	0.42251	D	0.991978	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.0;0.001	T	0.54721	-0.8251	10	0.27785	T	0.31	.	11.4802	0.50320	0.0:0.862:0.0:0.138	.	682;682;644;624	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	V	644;624;682;598	ENSP00000385622:A644V;ENSP00000370493:A624V;ENSP00000385000:A682V;ENSP00000423772:A598V	ENSP00000370493:A624V	A	+	2	0	KIF2A	61712733	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.666000	0.54540	2.785000	0.95823	0.655000	0.94253	GCC	KIF2A	-	NULL	ENSG00000068796		0.343	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	244	0.00	0	C	NM_004520		61676976	61676976	+1	no_errors	ENST00000407818	ensembl	human	known	69_37n	missense	114	44.12	90	SNP	1.000	T
KIF5C	3800	genome.wustl.edu	37	2	149803485	149803485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:149803485delA	ENST00000435030.1	+	8	1030	c.662delA	c.(661-663)gaafs	p.E221fs	KIF5C_ENST00000397413.1_5'Flank|KIF5C_ENST00000414838.2_Frame_Shift_Del_p.E126fs			O60282	KIF5C_HUMAN	kinesin family member 5C	221	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GTAGAGACTGAAAAAAAACTC	0.318																																						dbGAP											0													75.0	70.0	71.0					2																	149803485		1811	4081	5892	-	-	-	SO:0001589	frameshift_variant	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.662delA	2.37:g.149803485delA	ENSP00000393379:p.Glu221fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O95079|Q2YDC5	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K223fs	ENST00000435030.1	37	c.662		2																																																																																			KIF5C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000168280		0.318	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	67	0.00	0	A	NM_004522		149803485	149803485	+1	no_errors	ENST00000435030	ensembl	human	known	69_37n	frame_shift_del	62	34.02	33	DEL	1.000	-
KIFAP3	22920	genome.wustl.edu	37	1	170004605	170004605	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:170004605delA	ENST00000361580.2	-	6	834	c.607delT	c.(607-609)tgtfs	p.C203fs	KIFAP3_ENST00000490550.1_5'Flank|KIFAP3_ENST00000367765.1_Frame_Shift_Del_p.C163fs|KIFAP3_ENST00000538366.1_Frame_Shift_Del_p.C125fs|KIFAP3_ENST00000367767.1_Frame_Shift_Del_p.C159fs	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	203					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGGAGAAACAAAAAAAGATG	0.338																																						dbGAP											0													47.0	52.0	50.0					1																	170004605		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.607delT	1.37:g.170004605delA	ENSP00000354560:p.Cys203fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.C203fs	ENST00000361580.2	37	c.607	CCDS1288.1	1																																																																																			KIFAP3	-	NULL	ENSG00000075945		0.338	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	100	0.00	0	A	NM_014970		170004605	170004605	-1	no_errors	ENST00000361580	ensembl	human	known	69_37n	frame_shift_del	75	30.36	34	DEL	1.000	-
KIR3DL1	3811	genome.wustl.edu	37	19	55317420	55317420	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:55317420C>T	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Missense_Mutation_p.P124S|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.P126S|KIR2DL4_ENST00000396293.1_Missense_Mutation_p.P31S|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.P126S|KIR2DL4_ENST00000346587.4_Missense_Mutation_p.P31S|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.P126S|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATATGAGAAACCTTCGCTTAC	0.577																																						dbGAP											0													6.0	6.0	6.0					19																	55317420		1672	3186	4858	-	-	-	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-11569C>T	19.37:g.55317420C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.P124S	ENST00000538269.1	37	c.370		19	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760489	0.31137	.	.	ENSG00000189013	ENST00000396284;ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396293;ENST00000346587;ENST00000396289	T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05	1.05	1.05	0.20165	Immunoglobulin-like fold (1);	0.251083	0.20587	U	0.089423	T	0.49541	0.1563	H	0.95004	3.61	0.09310	N	1	D;D;D;D;D;D;D;D	0.89917	0.984;1.0;1.0;1.0;1.0;1.0;1.0;0.999	P;D;D;D;D;P;D;P	0.80764	0.849;0.968;0.994;0.99;0.994;0.891;0.994;0.889	T	0.30966	-0.9960	10	0.87932	D	0	.	5.4139	0.16363	0.0:1.0:0.0:0.0	.	126;124;126;126;126;31;126;31	Q99706;E7EST5;Q8N741;Q99706-4;Q99706-2;Q8N736;Q99706-3;Q8N738	KI2L4_HUMAN;.;.;.;.;.;.;.	S	124;126;126;126;31;31;124	ENSP00000379580:P124S;ENSP00000351988:P126S;ENSP00000339634:P126S;ENSP00000350088:P126S;ENSP00000379588:P31S;ENSP00000345331:P31S;ENSP00000379584:P124S	ENSP00000339634:P126S	P	+	1	0	KIR2DL4	60009232	0.003000	0.15002	0.003000	0.11579	0.118000	0.20060	0.713000	0.25794	0.863000	0.35553	0.205000	0.17691	CCT	KIR2DL4	-	NULL	ENSG00000189013		0.577	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL4	HGNC	protein_coding		33	0.00	0	C	NM_013289		55317420	55317420	+1	no_errors	ENST00000396284	ensembl	human	known	69_37n	missense	4	86.21	25	SNP	0.003	T
KLC2	64837	genome.wustl.edu	37	11	66033664	66033664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:66033664delC	ENST00000417856.1	+	14	1946	c.1703delC	c.(1702-1704)accfs	p.T568fs	RP11-867G23.1_ENST00000530805.1_RNA|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000421552.1_Frame_Shift_Del_p.T491fs|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000527397.1_5'Flank|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Frame_Shift_Del_p.T429fs|KLC2_ENST00000394066.2_Frame_Shift_Del_p.T491fs|KLC2_ENST00000316924.5_Frame_Shift_Del_p.T568fs|KLC2_ENST00000394067.2_Frame_Shift_Del_p.T568fs	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	568					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGGGGGGCACCCCCCAGGAG	0.647																																						dbGAP											0													20.0	26.0	24.0					11																	66033664		2197	4283	6480	-	-	-	SO:0001589	frameshift_variant	0			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1703delC	11.37:g.66033664delC	ENSP00000399403:p.Thr568fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Frame_Shift_Del	DEL	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.Q570fs	ENST00000417856.1	37	c.1703	CCDS8130.1	11																																																																																			KLC2	-	NULL	ENSG00000174996		0.647	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	50	0.00	0	C	NM_022822		66033664	66033664	+1	no_errors	ENST00000316924	ensembl	human	known	69_37n	frame_shift_del	30	37.25	19	DEL	0.984	-
KLC3	147700	genome.wustl.edu	37	19	45851384	45851384	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:45851384G>A	ENST00000391946.2	+	5	847	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	KLC3_ENST00000470402.1_Missense_Mutation_p.A263T|KLC3_ENST00000585434.1_Missense_Mutation_p.A248T	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	249					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCCTGACGTGGCCACCATGCT	0.687																																						dbGAP											0													16.0	15.0	15.0					19																	45851384		2201	4297	6498	-	-	-	SO:0001583	missense	0			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.745G>A	19.37:g.45851384G>A	ENSP00000375810:p.Ala249Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A263T	ENST00000391946.2	37	c.787	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366135	0.82463	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.80214	-1.35;-1.35	3.24	1.01	0.19927	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.159095	0.40640	N	0.001049	T	0.81470	0.4829	M	0.89353	3.025	0.52501	D	0.999952	P;P;P	0.46142	0.846;0.846;0.873	B;B;B	0.44108	0.313;0.313;0.441	T	0.79708	-0.1690	10	0.87932	D	0	-3.7616	6.3207	0.21217	0.1135:0.1893:0.6972:0.0	.	248;263;249	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	T	249;263	ENSP00000375810:A249T;ENSP00000436019:A263T	ENSP00000375810:A249T	A	+	1	0	KLC3	50543224	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.376000	0.97181	0.372000	0.24591	0.407000	0.27541	GCC	KLC3	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000104892		0.687	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	15	0.00	0	G	NM_145275		45851384	45851384	+1	no_errors	ENST00000470402	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	1.000	A
KLHL3	26249	genome.wustl.edu	37	5	137027977	137027977	+	Missense_Mutation	SNP	C	C	T	rs139512344		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:137027977C>T	ENST00000309755.4	-	5	966	c.523G>A	c.(523-525)Gca>Aca	p.A175T	KLHL3_ENST00000394937.3_Missense_Mutation_p.A175T|KLHL3_ENST00000508657.1_Missense_Mutation_p.A143T|KLHL3_ENST00000506491.1_Missense_Mutation_p.A93T|KLHL3_ENST00000541417.1_Silent_p.T56T	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	175	BACK.				distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CCCTTACCTGCGTAGGCATTG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20137	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													46.0	39.0	41.0					5																	137027977		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.523G>A	5.37:g.137027977C>T	ENSP00000312397:p.Ala175Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A175T	ENST00000309755.4	37	c.523	CCDS4192.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.52	1.373441	0.24857	.	.	ENSG00000146021	ENST00000506491;ENST00000508657;ENST00000309755;ENST00000505853;ENST00000394937	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	4.74	4.74	0.60224	BTB/Kelch-associated (2);	0.052511	0.85682	D	0.000000	T	0.53449	0.1797	N	0.26130	0.795	0.80722	D	1	B;B;P	0.41102	0.17;0.17;0.738	B;B;B	0.38712	0.024;0.037;0.28	T	0.51513	-0.8696	10	0.13853	T	0.58	.	17.9345	0.89008	0.0:1.0:0.0:0.0	.	135;175;175	D6RH21;Q9UH77;Q8N4I8	.;KLHL3_HUMAN;.	T	93;143;175;135;175	ENSP00000424828:A93T;ENSP00000422099:A143T;ENSP00000312397:A175T;ENSP00000426173:A135T;ENSP00000378395:A175T	ENSP00000312397:A175T	A	-	1	0	KLHL3	137055876	1.000000	0.71417	0.992000	0.48379	0.380000	0.30137	7.583000	0.82559	2.472000	0.83506	0.650000	0.86243	GCA	KLHL3	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000146021		0.542	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL3	HGNC	protein_coding	OTTHUMT00000251220.2	74	0.00	0	C			137027977	137027977	-1	no_errors	ENST00000309755	ensembl	human	known	69_37n	missense	80	27.03	30	SNP	1.000	T
KLK2	3817	genome.wustl.edu	37	19	51380015	51380015	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:51380015G>A	ENST00000325321.3	+	3	718		c.e3+1		KLK2_ENST00000358049.4_Splice_Site|KLK2_ENST00000391810.2_Splice_Site|AC037199.1_ENST00000594218.1_5'Flank			P20151	KLK2_HUMAN	kallikrein-related peptidase 2						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCAGAGGAGTGTACGCCTGGG	0.632			T	ETV4	prostate																																	dbGAP		Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													42.0	42.0	42.0					19																	51380015		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.493+1G>A	19.37:g.51380015G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Splice_Site	SNP	-	e3+1	ENST00000325321.3	37	c.493+1	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	g	1.219	-0.627589	0.03610	.	.	ENSG00000167751	ENST00000325321;ENST00000358049;ENST00000391810	.	.	.	2.36	-3.6	0.04570	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5153	0.07722	0.3819:0.0:0.4399:0.1782	.	.	.	.	.	-1	.	.	.	+	.	.	KLK2	56071827	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.834000	0.27518	-0.562000	0.06086	-0.680000	0.03767	.	KLK2	-	-	ENSG00000167751		0.632	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	58	0.00	0	G	NM_005551.3	Intron	51380015	51380015	+1	no_errors	ENST00000325321	ensembl	human	known	69_37n	splice_site	40	42.03	29	SNP	0.000	A
KMO	8564	genome.wustl.edu	37	1	241752051	241752051	+	Splice_Site	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:241752051delT	ENST00000366559.4	+	12	1328	c.1017delT	c.(1015-1017)agt>ag	p.S339fs	KMO_ENST00000366558.3_Splice_Site_p.S339fs|KMO_ENST00000366557.4_Splice_Site_p.S339fs	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AACTTACAGGTTTGTGTCTTC	0.388																																						dbGAP											0													174.0	163.0	167.0					1																	241752051		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.1016-1T>-	1.37:g.241752051delT		Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like	p.L340fs	ENST00000366559.4	37	c.1017	CCDS1618.1	1																																																																																			KMO	-	NULL	ENSG00000117009		0.388	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMO	HGNC	protein_coding	OTTHUMT00000095612.1	97	0.00	0	T	NM_003679	Frame_Shift_Del	241752051	241752051	+1	no_errors	ENST00000366559	ensembl	human	known	69_37n	frame_shift_del	84	24.56	28	DEL	0.899	-
KNG1	3827	genome.wustl.edu	37	3	186457192	186457192	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:186457192C>T	ENST00000265023.4	+	9	1326	c.1114C>T	c.(1114-1116)Cca>Tca	p.P372S	KNG1_ENST00000447445.1_Missense_Mutation_p.P336S|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.P372S|RP11-573D15.8_ENST00000354642.2_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	372	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CAACTGTCAACCACTGGGAAT	0.408																																						dbGAP											0													99.0	93.0	95.0					3																	186457192		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1114C>T	3.37:g.186457192C>T	ENSP00000265023:p.Pro372Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.P372S	ENST00000265023.4	37	c.1114	CCDS43183.1	3	.	.	.	.	.	.	.	.	.	.	C	1.042	-0.678590	0.03378	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.18502	2.3;2.56;2.21	4.54	-9.09	0.00717	.	1.976990	0.02176	N	0.060119	T	0.07773	0.0195	N	0.17674	0.51	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.09377	0.002;0.004	T	0.22695	-1.0209	10	0.16896	T	0.51	5.3011	2.53	0.04701	0.1542:0.4293:0.2812:0.1353	.	372;372	P01042;P01042-2	KNG1_HUMAN;.	S	372;372;336;360	ENSP00000287611:P372S;ENSP00000265023:P372S;ENSP00000396025:P336S	ENSP00000265023:P372S	P	+	1	0	KNG1	187939886	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.592000	0.00898	-3.505000	0.00150	0.557000	0.71058	CCA	KNG1	-	NULL	ENSG00000113889		0.408	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	HGNC	protein_coding	OTTHUMT00000317738.1	89	0.00	0	C	NM_001102416		186457192	186457192	+1	no_errors	ENST00000265023	ensembl	human	known	69_37n	missense	49	47.31	44	SNP	0.000	T
KPNA5	3841	genome.wustl.edu	37	6	117047767	117047767	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:117047767G>A	ENST00000368564.1	+	12	1383	c.1235G>A	c.(1234-1236)gGt>gAt	p.G412D	KPNA5_ENST00000356348.1_Missense_Mutation_p.G412D			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	409					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		ACATCAGGAGGTACTCCAGAG	0.313																																						dbGAP											0													81.0	85.0	83.0					6																	117047767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.1235G>A	6.37:g.117047767G>A	ENSP00000357552:p.Gly412Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI5|Q86X23	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.G412D	ENST00000368564.1	37	c.1235	CCDS5111.1	6	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387816	0.82902	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.32515	1.45;1.45	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	H	0.95294	3.65	0.80722	D	1	D	0.71674	0.998	D	0.66716	0.946	T	0.76002	-0.3118	10	0.87932	D	0	.	19.507	0.95121	0.0:0.0:1.0:0.0	.	409	O15131	IMA5_HUMAN	D	412	ENSP00000357552:G412D;ENSP00000348704:G412D	ENSP00000348704:G412D	G	+	2	0	KPNA5	117154460	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	9.462000	0.97649	2.617000	0.88574	0.485000	0.47835	GGT	KPNA5	-	superfamily_ARM-type_fold	ENSG00000196911		0.313	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1	191	0.00	0	G	NM_002269		117047767	117047767	+1	no_errors	ENST00000356348	ensembl	human	known	69_37n	missense	118	35.87	66	SNP	1.000	A
KRT17P2	339241	genome.wustl.edu	37	17	18333037	18333037	+	RNA	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:18333037A>T	ENST00000326333.8	+	0	859				KRT16P1_ENST00000581027.1_RNA					keratin 17 pseudogene 2																		GGTGAGATCAATGTGGAGATG	0.582																																						dbGAP											0																																										-	-	-			0					17p11.2	2013-06-25			ENSG00000186831	ENSG00000186831			6429	pseudogene	pseudogene						1281771	Standard	NG_002778		Approved				OTTHUMG00000059248		17.37:g.18333037A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000326333.8	37	NULL		17	.	.	.	.	.	.	.	.	.	.	A	9.490	1.100324	0.20552	.	.	ENSG00000186831	ENST00000300992	.	.	.	2.87	2.87	0.33458	.	0.000000	0.51477	D	0.000092	T	0.58133	0.2101	.	.	.	.	.	.	.	.	.	.	.	.	T	0.70761	-0.4784	5	0.87932	D	0	.	9.1714	0.37083	1.0:0.0:0.0:0.0	.	.	.	.	I	239	.	ENSP00000300992:N239I	N	+	2	0	AL353997.5	18273762	0.966000	0.33281	1.000000	0.80357	0.418000	0.31294	2.491000	0.45303	1.080000	0.41073	0.155000	0.16302	AAT	KRT17P2	-	-	ENSG00000186831		0.582	KRT17P2-002	KNOWN	basic	processed_transcript	KRT17P2	HGNC	pseudogene	OTTHUMT00000446573.1	10	0.00	0	A	NG_002778		18333037	18333037	+1	no_errors	ENST00000326333	ensembl	human	known	69_37n	rna	10	56.52	13	SNP	1.000	T
KRT16P3	644945	genome.wustl.edu	37	17	20405389	20405389	+	RNA	SNP	G	G	A	rs568091164		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:20405389G>A	ENST00000580113.1	-	0	1012									keratin 16 pseudogene 3																		GGGCGTCCTCGCCCTCCAGCA	0.627													g|||	1	0.000199681	0.0	0.0	5008	,	,		19525	0.0		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20405389G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000580113.1	37	NULL		17																																																																																			KRT16P3	-	-	ENSG00000214822		0.627	KRT16P3-004	KNOWN	basic	processed_transcript	KRT16P3	HGNC	pseudogene	OTTHUMT00000443764.1	190	0.00	0	G	NR_029393		20405389	20405389	-1	no_errors	ENST00000580621	ensembl	human	known	69_37n	rna	120	43.78	95	SNP	0.994	A
KRT12	3859	genome.wustl.edu	37	17	39023042	39023042	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:39023042T>C	ENST00000251643.4	-	1	420	c.397A>G	c.(397-399)Aat>Gat	p.N133D		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	133	Coil 1A.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	AATCTATCATTAAGATTTTGC	0.443																																						dbGAP											0													103.0	116.0	111.0					17																	39023042		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.397A>G	17.37:g.39023042T>C	ENSP00000251643:p.Asn133Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E0	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.N133D	ENST00000251643.4	37	c.397	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003158	0.93287	.	.	ENSG00000187242	ENST00000251643	D	0.96554	-4.05	5.91	5.91	0.95273	Filament (1);	0.000000	0.53938	D	0.000043	D	0.99023	0.9666	H	0.98769	4.325	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.99194	1.0871	10	0.87932	D	0	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	133	Q99456	K1C12_HUMAN	D	133	ENSP00000251643:N133D	ENSP00000251643:N133D	N	-	1	0	KRT12	36276568	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	AAT	KRT12	-	pfam_F	ENSG00000187242		0.443	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2	422	0.00	0	T	NM_000223		39023042	39023042	-1	no_errors	ENST00000251643	ensembl	human	known	69_37n	missense	236	40.45	161	SNP	1.000	C
KRT32	3882	genome.wustl.edu	37	17	39620681	39620681	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:39620681delA	ENST00000225899.3	-	4	826	c.723delT	c.(721-723)cttfs	p.L241fs		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	241	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCTGGCATCGAAGGGAACCGA	0.562																																						dbGAP											0													52.0	42.0	45.0					17																	39620681		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.723delT	17.37:g.39620681delA	ENSP00000225899:p.Leu241fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R242fs	ENST00000225899.3	37	c.723	CCDS11393.1	17																																																																																			KRT32	-	pfam_F	ENSG00000108759		0.562	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	19	0.00	0	A	NM_002278		39620681	39620681	-1	no_errors	ENST00000225899	ensembl	human	known	69_37n	frame_shift_del	11	35.29	6	DEL	0.758	-
KRT36	8689	genome.wustl.edu	37	17	39643672	39643672	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:39643672C>T	ENST00000328119.6	-	5	917	c.918G>A	c.(916-918)caG>caA	p.Q306Q	KRT36_ENST00000393986.2_Silent_p.Q256Q	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	306	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)	p.Q306H(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGATCTCCGTCTGGCAGCACT	0.607																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											74.0	56.0	62.0					17																	39643672		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.918G>A	17.37:g.39643672C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XG4	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.Q306	ENST00000328119.6	37	c.918	CCDS11395.1	17																																																																																			KRT36	-	pfam_F,superfamily_Prefoldin	ENSG00000126337		0.607	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT36	HGNC	protein_coding	OTTHUMT00000259508.1	42	0.00	0	C	NM_003771		39643672	39643672	-1	no_errors	ENST00000328119	ensembl	human	known	69_37n	silent	21	44.74	17	SNP	0.790	T
KRTAP6-3	337968	genome.wustl.edu	37	21	31964878	31964878	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:31964878C>T	ENST00000391624.1	+	1	120	c.93C>T	c.(91-93)ggC>ggT	p.G31G	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	31						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						gcggctgtggctatgggtgct	0.602																																						dbGAP											0													93.0	104.0	101.0					21																	31964878		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.93C>T	21.37:g.31964878C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4IF26	Silent	SNP	NULL	p.G31	ENST00000391624.1	37	c.93		21																																																																																			KRTAP6-3	-	NULL	ENSG00000212938		0.602	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	KRTAP6-3	HGNC	protein_coding	OTTHUMT00000128243.2	70	0.00	0	C	NM_181605		31964878	31964878	+1	no_errors	ENST00000391624	ensembl	human	known	69_37n	silent	39	43.59	34	SNP	0.962	T
KRTAP10-12	386685	genome.wustl.edu	37	21	46117591	46117591	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:46117591C>T	ENST00000400365.3	+	1	505	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	159	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CTGCTGCAAGCCCATCTGCTG	0.622																																						dbGAP											0													182.0	189.0	187.0					21																	46117591		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.475C>T	21.37:g.46117591C>T	ENSP00000383216:p.Pro159Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA3	Missense_Mutation	SNP	NULL	p.P159S	ENST00000400365.3	37	c.475	CCDS42967.1	21	.	.	.	.	.	.	.	.	.	.	c	5.764	0.325382	0.10900	.	.	ENSG00000189169	ENST00000400365;ENST00000452870	T	0.01139	5.28	3.64	3.64	0.41730	.	.	.	.	.	T	0.03220	0.0094	L	0.46157	1.445	0.22866	N	0.99863	P	0.52316	0.952	P	0.57371	0.819	T	0.45673	-0.9245	9	0.49607	T	0.09	.	11.1263	0.48320	0.0:1.0:0.0:0.0	.	159	P60413	KR10C_HUMAN	S	159;67	ENSP00000383216:P159S	ENSP00000383216:P159S	P	+	1	0	KRTAP10-12	44942019	0.103000	0.21917	0.045000	0.18777	0.036000	0.12997	1.208000	0.32345	1.707000	0.51288	0.195000	0.17529	CCC	KRTAP10-12	-	NULL	ENSG00000189169		0.622	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-12	HGNC	protein_coding	OTTHUMT00000128032.1	412	0.24	1	C	NM_198699		46117591	46117591	+1	no_errors	ENST00000400365	ensembl	human	known	69_37n	missense	260	43.44	202	SNP	0.479	T
L2HGDH	79944	genome.wustl.edu	37	14	50732075	50732075	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:50732075C>T	ENST00000267436.4	-	9	1594		c.e9+1		L2HGDH_ENST00000261699.4_Splice_Site|L2HGDH_ENST00000421284.3_Splice_Site			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CTTTTCCTTACCTAAGTATAT	0.378																																						dbGAP											0													66.0	63.0	64.0					14																	50732075		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.1196+1G>A	14.37:g.50732075C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRR1	Splice_Site	SNP	-	e9+1	ENST00000267436.4	37	c.1196+1	CCDS9698.1	14	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755272	0.89843	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6314	0.95704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	L2HGDH	49801825	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.824000	0.75288	2.814000	0.96858	0.563000	0.77884	.	L2HGDH	-	-	ENSG00000087299		0.378	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L2HGDH	HGNC	protein_coding	OTTHUMT00000276870.2	149	0.00	0	C	NM_024884	Intron	50732075	50732075	-1	no_errors	ENST00000267436	ensembl	human	known	69_37n	splice_site	76	40.31	52	SNP	1.000	T
L3MBTL2	83746	genome.wustl.edu	37	22	41613207	41613207	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:41613207G>A	ENST00000216237.5	+	5	758		c.e5+1		RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTCAAGCACGTGAGTGCCCT	0.627																																						dbGAP											0													59.0	51.0	54.0					22																	41613207		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.600+1G>A	22.37:g.41613207G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Splice_Site	SNP	-	e5+1	ENST00000216237.5	37	c.600+1	CCDS14011.1	22	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825507	0.90955	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5138	0.95154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	L3MBTL2	39943153	1.000000	0.71417	0.984000	0.44739	0.919000	0.55068	9.730000	0.98797	2.780000	0.95670	0.655000	0.94253	.	L3MBTL2	-	-	ENSG00000100395		0.627	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	28	0.00	0	G	NM_031488	Intron	41613207	41613207	+1	no_errors	ENST00000216237	ensembl	human	known	69_37n	splice_site	25	34.21	13	SNP	1.000	A
LALBA	3906	genome.wustl.edu	37	12	48961753	48961753	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:48961753C>T	ENST00000301046.2	-	4	441	c.416G>A	c.(415-417)tGt>tAt	p.C139Y	LALBA_ENST00000549817.1_3'UTR	NM_002289.2	NP_002280.1	P00709	LALBA_HUMAN	lactalbumin, alpha-	139					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|lactose biosynthetic process (GO:0005989)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|lactose synthase activity (GO:0004461)			large_intestine(1)|stomach(2)	3						CAACTTCTCACAAAGCCACTG	0.498																																						dbGAP											0													140.0	101.0	114.0					12																	48961753		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8765.1	12q13	2012-10-02				ENSG00000167531			6480	protein-coding gene	gene with protein product		149750					Standard	XM_006719395		Approved	LYZL7	uc001rrt.3	P00709	OTTHUMG00000170391	ENST00000301046.2:c.416G>A	12.37:g.48961753C>T	ENSP00000301046:p.Cys139Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGX0|Q9UDK4	Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Lactalbumin,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.C139Y	ENST00000301046.2	37	c.416	CCDS8765.1	12	.	.	.	.	.	.	.	.	.	.	c	17.30	3.353531	0.61293	.	.	ENSG00000167531	ENST00000301046	D	0.81499	-1.5	4.88	4.88	0.63580	Lysozyme-like domain (1);	0.064409	0.64402	D	0.000008	D	0.88930	0.6571	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89958	0.4084	10	0.87932	D	0	-8.8933	13.4099	0.60935	0.0:1.0:0.0:0.0	.	139	P00709	LALBA_HUMAN	Y	139	ENSP00000301046:C139Y	ENSP00000301046:C139Y	C	-	2	0	LALBA	47248020	0.393000	0.25237	0.058000	0.19502	0.272000	0.26649	2.834000	0.48167	2.539000	0.85634	0.461000	0.40582	TGT	LALBA	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22	ENSG00000167531		0.498	LALBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LALBA	HGNC	protein_coding	OTTHUMT00000408836.1	27	0.00	0	C	NM_002289		48961753	48961753	-1	no_errors	ENST00000301046	ensembl	human	known	69_37n	missense	15	42.31	11	SNP	0.130	T
LAMB1	3912	genome.wustl.edu	37	7	107618513	107618513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:107618513G>A	ENST00000222399.6	-	9	1209	c.979C>T	c.(979-981)Cga>Tga	p.R327*	LAMB1_ENST00000393561.1_Nonsense_Mutation_p.R351*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.R327*	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	327	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TTGCTGTTTCGGCCTTCAGCA	0.443																																						dbGAP											0													124.0	118.0	120.0					7																	107618513		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.979C>T	7.37:g.107618513G>A	ENSP00000222399:p.Arg327*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D91	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R327*	ENST00000222399.6	37	c.979	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	G	38	7.148396	0.98096	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	19.0709	0.93136	0.0:0.0:1.0:0.0	.	.	.	.	X	351;327;327	.	ENSP00000222399:R327X	R	-	1	2	LAMB1	107405749	1.000000	0.71417	0.985000	0.45067	0.465000	0.32709	7.430000	0.80321	2.745000	0.94114	0.462000	0.41574	CGA	LAMB1	-	smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000091136		0.443	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	136	0.00	0	G	NM_002291		107618513	107618513	-1	no_errors	ENST00000222399	ensembl	human	known	69_37n	nonsense	79	42.75	59	SNP	1.000	A
LAMB4	22798	genome.wustl.edu	37	7	107749691	107749691	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:107749691T>C	ENST00000388781.3	-	5	412		c.e5-2		LAMB4_ENST00000414450.2_Splice_Site|LAMB4_ENST00000205386.4_Splice_Site|LAMB4_ENST00000418464.1_Splice_Site|LAMB4_ENST00000388780.3_Splice_Site	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4						cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GATCAAGACCTAAGGAAGAAT	0.403																																						dbGAP											0													95.0	91.0	92.0					7																	107749691		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.329-2A>G	7.37:g.107749691T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Splice_Site	SNP	-	e4-2	ENST00000388781.3	37	c.329-2	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095894	0.76870	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.803	0.69929	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMB4	107536927	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	7.194000	0.77789	2.085000	0.62840	0.533000	0.62120	.	LAMB4	-	-	ENSG00000091128		0.403	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	133	0.00	0	T	XM_209857	Intron	107749691	107749691	-1	no_errors	ENST00000205386	ensembl	human	known	69_37n	splice_site	77	35.83	43	SNP	1.000	C
LAMP2	3920	genome.wustl.edu	37	X	119589284	119589284	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:119589284A>G	ENST00000200639.4	-	3	461	c.325T>C	c.(325-327)Tat>Cat	p.Y109H	LAMP2_ENST00000371335.4_Missense_Mutation_p.Y109H|LAMP2_ENST00000540603.1_Missense_Mutation_p.Y62H|LAMP2_ENST00000434600.2_Missense_Mutation_p.Y109H|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	109	First lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TCAATTGAATAAGTAGATGCT	0.413																																						dbGAP											0													160.0	139.0	146.0					X																	119589284		2203	4300	6503	-	-	-	SO:0001583	missense	0			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.325T>C	X.37:g.119589284A>G	ENSP00000200639:p.Tyr109His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.Y109H	ENST00000200639.4	37	c.325	CCDS14599.1	X	.	.	.	.	.	.	.	.	.	.	A	15.07	2.725428	0.48833	.	.	ENSG00000005893	ENST00000434600;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.90369	3.11	0.33758	D	0.621498	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.79813	-0.1645	10	0.87932	D	0	-18.7069	10.8164	0.46578	1.0:0.0:0.0:0.0	.	62;109;109;109	B4E2S7;P13473-2;P13473;Q6Q3G8	.;.;LAMP2_HUMAN;.	H	109;109;109;62	ENSP00000408411:Y109H;ENSP00000200639:Y109H;ENSP00000360386:Y109H;ENSP00000440479:Y62H	ENSP00000200639:Y109H	Y	-	1	0	LAMP2	119473312	1.000000	0.71417	0.058000	0.19502	0.430000	0.31655	5.740000	0.68629	1.823000	0.53134	0.486000	0.48141	TAT	LAMP2	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000005893		0.413	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LAMP2	HGNC	protein_coding	OTTHUMT00000058099.1	357	0.28	1	A			119589284	119589284	-1	no_errors	ENST00000434600	ensembl	human	known	69_37n	missense	167	39.27	108	SNP	0.386	G
LAMP2	3920	genome.wustl.edu	37	X	119590609	119590609	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:119590609T>C	ENST00000200639.4	-	2	216	c.80A>G	c.(79-81)tAt>tGt	p.Y27C	LAMP2_ENST00000371335.4_Missense_Mutation_p.Y27C|LAMP2_ENST00000540603.1_5'UTR|LAMP2_ENST00000434600.2_Missense_Mutation_p.Y27C|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	27					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TTCCAATGCATAAGACCGCAC	0.308																																						dbGAP											0													50.0	41.0	44.0					X																	119590609		2203	4300	6503	-	-	-	SO:0001583	missense	0			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.80A>G	X.37:g.119590609T>C	ENSP00000200639:p.Tyr27Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.Y27C	ENST00000200639.4	37	c.80	CCDS14599.1	X	.	.	.	.	.	.	.	.	.	.	T	0.929	-0.713193	0.03206	.	.	ENSG00000005893	ENST00000434600;ENST00000200639;ENST00000371335	T;T;T	0.34472	1.36;1.36;1.36	4.89	3.68	0.42216	.	1.213680	0.05576	N	0.571919	T	0.40743	0.1129	M	0.76574	2.34	0.22112	N	0.999351	B;B;B	0.25609	0.13;0.046;0.014	B;B;B	0.21708	0.036;0.023;0.016	T	0.32241	-0.9914	10	0.41790	T	0.15	-5.1029	7.1303	0.25497	0.3663:0.0:0.0:0.6337	.	27;27;27	P13473-2;P13473;Q6Q3G8	.;LAMP2_HUMAN;.	C	27	ENSP00000408411:Y27C;ENSP00000200639:Y27C;ENSP00000360386:Y27C	ENSP00000200639:Y27C	Y	-	2	0	LAMP2	119474637	0.925000	0.31364	0.029000	0.17559	0.044000	0.14063	0.613000	0.24299	0.600000	0.29862	0.486000	0.48141	TAT	LAMP2	-	NULL	ENSG00000005893		0.308	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LAMP2	HGNC	protein_coding	OTTHUMT00000058099.1	106	0.00	0	T			119590609	119590609	-1	no_errors	ENST00000434600	ensembl	human	known	69_37n	missense	64	33.33	32	SNP	0.223	C
LARGE	9215	genome.wustl.edu	37	22	33828215	33828215	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:33828215T>C	ENST00000354992.2	-	8	1395	c.824A>G	c.(823-825)gAc>gGc	p.D275G	LARGE_ENST00000452586.2_Missense_Mutation_p.D74G|LARGE_ENST00000437602.2_Missense_Mutation_p.D275G|LARGE_ENST00000402320.1_Missense_Mutation_p.D275G|LARGE_ENST00000397394.2_Missense_Mutation_p.D275G|LARGE_ENST00000337431.2_Missense_Mutation_p.D275G	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	275					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AAGGTACCAGTCACTCTGGTT	0.502																																					Colon(70;397 1175 4573 19089 45288)	dbGAP											0													121.0	100.0	107.0					22																	33828215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.824A>G	22.37:g.33828215T>C	ENSP00000347088:p.Asp275Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.D275G	ENST00000354992.2	37	c.824	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450896	0.84209	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602;ENST00000421768	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	L	0.47016	1.485	0.80722	D	1	P;P;D;P	0.76494	0.768;0.582;0.999;0.935	P;B;D;P	0.69142	0.61;0.331;0.962;0.824	T	0.60281	-0.7294	10	0.72032	D	0.01	-4.9868	15.9765	0.80071	0.0:0.0:0.0:1.0	.	275;74;275;275	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	G	275;275;275;275;74;275;74	ENSP00000347088:D275G;ENSP00000336636:D275G;ENSP00000380549:D275G;ENSP00000385223:D275G;ENSP00000407917:D74G;ENSP00000388544:D275G;ENSP00000403841:D74G	ENSP00000336636:D275G	D	-	2	0	LARGE	32158215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.587000	0.82613	2.172000	0.68678	0.533000	0.62120	GAC	LARGE	-	pfam_Glyco_trans_8	ENSG00000133424		0.502	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	118	0.00	0	T	NM_133642		33828215	33828215	-1	no_errors	ENST00000354992	ensembl	human	known	69_37n	missense	107	32.92	53	SNP	1.000	C
LAYN	143903	genome.wustl.edu	37	11	111420425	111420425	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:111420425G>A	ENST00000375615.3	+	4	675	c.490G>A	c.(490-492)Gga>Aga	p.G164R	LAYN_ENST00000525126.1_Missense_Mutation_p.G164R|LAYN_ENST00000375614.2_Missense_Mutation_p.G156R|LAYN_ENST00000528924.1_Intron|LAYN_ENST00000436913.2_Intron|LAYN_ENST00000533265.1_Missense_Mutation_p.G156R	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	164	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	CGCTGGCATCGGAGGCCCCTA	0.517																																					Ovarian(17;551 586 12136 22082 22900)	dbGAP											0													99.0	93.0	95.0					11																	111420425		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.490G>A	11.37:g.111420425G>A	ENSP00000364765:p.Gly164Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G164R	ENST00000375615.3	37	c.490	CCDS58178.1	11	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974068	0.92919	.	.	ENSG00000204381	ENST00000533999;ENST00000375614;ENST00000375615;ENST00000525126;ENST00000533265;ENST00000541011;ENST00000530962;ENST00000528102	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.66	4.74	0.60224	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.050976	0.85682	D	0.000000	T	0.43211	0.1237	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.998;0.955	T	0.45279	-0.9272	10	0.72032	D	0.01	-17.1767	15.5806	0.76432	0.0:0.0:0.8609:0.1391	.	156;164;164;156	E9PMI0;Q6UX15;E9PQU7;Q6UX15-2	.;LAYN_HUMAN;.;.	R	12;156;164;164;156;119;12;12	ENSP00000364764:G156R;ENSP00000364765:G164R;ENSP00000434328:G164R;ENSP00000434972:G156R	ENSP00000364764:G156R	G	+	1	0	LAYN	110925635	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.612000	0.82975	1.361000	0.45981	0.563000	0.77884	GGA	LAYN	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000204381		0.517	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAYN	HGNC	protein_coding	OTTHUMT00000391187.1	131	0.00	0	G	NM_178834		111420425	111420425	+1	no_errors	ENST00000375615	ensembl	human	known	69_37n	missense	57	39.36	37	SNP	1.000	A
LENG8	114823	genome.wustl.edu	37	19	54967264	54967264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:54967264C>T	ENST00000326764.5	+	9	1623	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	345	Ser-rich.									breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCCGTCCCAGCGAGGGACGCC	0.667																																						dbGAP											0													24.0	31.0	29.0					19																	54967264		2150	4246	6396	-	-	-	SO:0001587	stop_gained	0			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1144C>T	19.37:g.54967264C>T	ENSP00000318374:p.Arg382*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0VJY9|Q8IZ27|Q8NCX6	Nonsense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R382*	ENST00000326764.5	37	c.1144	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	C	41	8.629602	0.98892	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	.	.	.	4.77	3.67	0.42095	.	0.193390	0.33650	N	0.004689	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.972	10.9637	0.47399	0.2828:0.7172:0.0:0.0	.	.	.	.	X	382;345;345;382	.	ENSP00000301196:R345X	R	+	1	2	LENG8	59659076	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	3.456000	0.53000	2.367000	0.80283	0.561000	0.74099	CGA	LENG8	-	NULL	ENSG00000167615		0.667	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2	30	0.00	0	C	NM_052925		54967264	54967264	+1	no_errors	ENST00000326764	ensembl	human	known	69_37n	nonsense	25	41.86	18	SNP	1.000	T
LHX5	64211	genome.wustl.edu	37	12	113907048	113907048	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:113907048G>A	ENST00000261731.3	-	2	849	c.276C>T	c.(274-276)tgC>tgT	p.C92C	LHX5_ENST00000557836.1_5'Flank|RP11-82C23.2_ENST00000551357.2_RNA	NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	92	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation in forebrain (GO:0021846)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|forebrain neuron differentiation (GO:0021879)|hippocampus development (GO:0021766)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TACACACCATGCAGGTGAAAC	0.582																																						dbGAP											0													126.0	107.0	114.0					12																	113907048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF291181	CCDS9171.1	12q24.13	2014-01-15			ENSG00000089116	ENSG00000089116		"""Homeoboxes / LIM class"""	14216	protein-coding gene	gene with protein product		605992					Standard	NM_022363		Approved		uc001tvj.1	Q9H2C1	OTTHUMG00000169552	ENST00000261731.3:c.276C>T	12.37:g.113907048G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MA4	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.C92	ENST00000261731.3	37	c.276	CCDS9171.1	12																																																																																			LHX5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000089116		0.582	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX5	HGNC	protein_coding	OTTHUMT00000404788.3	77	0.00	0	G	NM_022363		113907048	113907048	-1	no_errors	ENST00000261731	ensembl	human	known	69_37n	silent	7	69.57	16	SNP	1.000	A
LIG3	3980	genome.wustl.edu	37	17	33321330	33321330	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:33321330G>A	ENST00000378526.4	+	9	1624	c.1491G>A	c.(1489-1491)aaG>aaA	p.K497K	LIG3_ENST00000262327.5_Silent_p.K497K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	497					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ATGCAATGAAGAAATGTCCCA	0.527								Other BER factors																														dbGAP											0													155.0	129.0	138.0					17																	33321330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1491G>A	17.37:g.33321330G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16714|Q6NVK3	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.K497	ENST00000378526.4	37	c.1491	CCDS11284.2	17																																																																																			LIG3	-	pfam_DNA_ligase_ATP-dep_cent,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.527	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	143	0.00	0	G	NM_013975		33321330	33321330	+1	no_errors	ENST00000378526	ensembl	human	known	69_37n	silent	119	37.37	71	SNP	1.000	A
LIG3	3980	genome.wustl.edu	37	17	33325243	33325243	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:33325243T>C	ENST00000378526.4	+	13	2050	c.1917T>C	c.(1915-1917)gcT>gcC	p.A639A	LIG3_ENST00000262327.5_Silent_p.A639A	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	639					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTCAGAAAGCTTTGGACTTGG	0.522								Other BER factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													142.0	123.0	129.0					17																	33325243		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1917T>C	17.37:g.33325243T>C		Somatic	839	WXS	Illumina GAIIx	Phase_IV	Q16714|Q6NVK3	Missense_Mutation	SNP	NULL	p.L32P	ENST00000378526.4	37	c.95	CCDS11284.2	17																																																																																			LIG3	-	NULL	ENSG00000005156		0.522	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	58	0.00	0	T	NM_013975		33325243	33325243	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000585370	ensembl	human	known	69_37n	missense	50	35.06	27	SNP	0.806	C
LILRA1	11024	genome.wustl.edu	37	19	55107147	55107147	+	Silent	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:55107147A>C	ENST00000251372.3	+	6	887	c.705A>C	c.(703-705)atA>atC	p.I235I	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	235	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGGTCCTATAGTGGCCCCTG	0.542																																						dbGAP											0													126.0	127.0	127.0					19																	55107147		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.705A>C	19.37:g.55107147A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75018|Q3MJA6	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.I235	ENST00000251372.3	37	c.705	CCDS12901.1	19																																																																																			LILRA1	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000104974		0.542	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	87	0.00	0	A	NM_006863		55107147	55107147	+1	no_errors	ENST00000251372	ensembl	human	known	69_37n	silent	49	18.33	11	SNP	0.000	C
LILRA1	11024	genome.wustl.edu	37	19	55107401	55107401	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:55107401G>A	ENST00000251372.3	+	6	1140		c.e6+1		LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_Splice_Site|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGATCGCAGGTGAGGAGCCC	0.677																																						dbGAP											0													19.0	27.0	24.0					19																	55107401		2189	4288	6477	-	-	-	SO:0001630	splice_region_variant	0			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.958+1G>A	19.37:g.55107401G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75018|Q3MJA6	Splice_Site	SNP	-	e5+1	ENST00000251372.3	37	c.958+1	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	G	0.965	-0.701927	0.03255	.	.	ENSG00000104974	ENST00000251372	.	.	.	1.73	-3.45	0.04781	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2298	0.00178	0.3196:0.2038:0.2711:0.2056	.	.	.	.	.	-1	.	.	.	+	.	.	LILRA1	59799213	0.104000	0.21937	0.000000	0.03702	0.013000	0.08279	0.300000	0.19156	-1.054000	0.03214	0.194000	0.17425	.	LILRA1	-	-	ENSG00000104974		0.677	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	41	0.00	0	G	NM_006863	Intron	55107401	55107401	+1	no_errors	ENST00000251372	ensembl	human	known	69_37n	splice_site	13	50.00	13	SNP	0.000	A
LILRA1	11024	genome.wustl.edu	37	19	55112190	55112190	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:55112190G>A	ENST00000251372.3	+	10	1560	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	LILRA1_ENST00000453777.1_Missense_Mutation_p.E260K|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	460					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTACACAGTGGAGAATCTCAT	0.577																																						dbGAP											0													116.0	102.0	106.0					19																	55112190		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1378G>A	19.37:g.55112190G>A	ENSP00000251372:p.Glu460Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75018|Q3MJA6	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.E460K	ENST00000251372.3	37	c.1378	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878389	0.33162	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00515	6.87;6.91	2.44	-0.0913	0.13661	.	678.450000	0.00166	U	0.000006	T	0.00724	0.0024	M	0.67700	2.07	0.09310	N	1	P	0.37423	0.594	B	0.36719	0.231	T	0.49818	-0.8899	10	0.54805	T	0.06	.	8.0102	0.30349	0.0:0.4994:0.5006:0.0	.	460	O75019	LIRA1_HUMAN	K	460;260	ENSP00000251372:E460K;ENSP00000413715:E260K	ENSP00000251372:E460K	E	+	1	0	LILRA1	59804002	0.000000	0.05858	0.020000	0.16555	0.089000	0.18198	-0.563000	0.05943	-0.058000	0.13177	0.195000	0.17529	GAG	LILRA1	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000104974		0.577	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	140	0.00	0	G	NM_006863		55112190	55112190	+1	no_errors	ENST00000251372	ensembl	human	known	69_37n	missense	99	42.11	72	SNP	0.027	A
LILRB1	10859	genome.wustl.edu	37	19	55148375	55148375	+	3'UTR	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:55148375A>G	ENST00000396331.1	+	0	2356				LILRB1_ENST00000462628.1_3'UTR|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396327.3_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396332.4_3'UTR|LILRB1_ENST00000418536.2_3'UTR|LILRB1_ENST00000427581.2_3'UTR|LILRB1_ENST00000396321.2_3'UTR|LILRB1_ENST00000324602.7_3'UTR|LILRB1_ENST00000434867.2_3'UTR|LILRB1_ENST00000396317.1_3'UTR|LILRB1_ENST00000396315.1_3'UTR	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1						cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTGGAATGCATGGGAGCTGC	0.612										HNSCC(37;0.09)																												dbGAP											0													35.0	33.0	34.0					19																	55148375		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.*46A>G	19.37:g.55148375A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	RNA	SNP	-	NULL	ENST00000396331.1	37	NULL	CCDS42617.1	19																																																																																			LILRB1	-	-	ENSG00000104972		0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	HGNC	protein_coding	OTTHUMT00000140796.4	39	0.00	0	A			55148375	55148375	+1	no_errors	ENST00000462628	ensembl	human	known	69_37n	rna	23	45.24	19	SNP	0.001	G
LIMCH1	22998	genome.wustl.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggagafs	p.RR421fs	LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465																																						dbGAP											2	Deletion - Frameshift(2)	ovary(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1263_1264delGA	4.37:g.41648518_41648519delGA	ENSP00000316891:p.Arg421fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Del	DEL	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E810fs	ENST00000313860.7	37	c.2418_2419	CCDS33977.1	4																																																																																			LIMCH1	-	NULL	ENSG00000064042		0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	392	0.00	0	GA	NM_014988		41648508	41648509	+1	no_errors	ENST00000503057	ensembl	human	known	69_37n	frame_shift_del	244	32.61	121	DEL	0.997:1.000	-
LIMCH1	22998	genome.wustl.edu	37	4	41664932	41664932	+	Silent	SNP	G	G	A	rs199939944		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:41664932G>A	ENST00000313860.7	+	15	2121	c.2067G>A	c.(2065-2067)tcG>tcA	p.S689S	LIMCH1_ENST00000514096.1_Silent_p.S530S|LIMCH1_ENST00000512946.1_Silent_p.S689S|LIMCH1_ENST00000512820.1_Silent_p.S677S|LIMCH1_ENST00000503057.1_Silent_p.S1074S|LIMCH1_ENST00000511496.1_Silent_p.S530S|LIMCH1_ENST00000508501.1_Silent_p.S689S|LIMCH1_ENST00000509277.1_Silent_p.S523S|LIMCH1_ENST00000381753.4_Silent_p.S523S|LIMCH1_ENST00000512632.1_Silent_p.S689S|LIMCH1_ENST00000513024.1_Silent_p.S518S|LIMCH1_ENST00000396595.3_Silent_p.S535S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	689					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATGATGTGTCGGAAGAAAAAG	0.478																																						dbGAP											0													67.0	66.0	67.0					4																	41664932		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2067G>A	4.37:g.41664932G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R524Q	ENST00000313860.7	37	c.1571	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.422577	0.01126	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.0	-6.7	0.01766	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.35325	-0.9793	4	.	.	.	-1.1145	8.3607	0.32357	0.3827:0.1197:0.4976:0.0	.	.	.	.	Q	524	.	.	R	+	2	0	LIMCH1	41359689	0.099000	0.21834	0.004000	0.12327	0.000000	0.00434	0.077000	0.14738	-1.089000	0.03073	-2.303000	0.00259	CGG	LIMCH1	-	NULL	ENSG00000064042		0.478	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	154	0.00	0	G	NM_014988		41664932	41664932	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000508466	ensembl	human	novel	69_37n	missense	104	44.97	85	SNP	0.000	A
LIN54	132660	genome.wustl.edu	37	4	83867549	83867549	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:83867549T>C	ENST00000340417.3	-	5	1407	c.1030A>G	c.(1030-1032)Act>Gct	p.T344A	LIN54_ENST00000442461.2_Missense_Mutation_p.T123A|LIN54_ENST00000510557.1_Missense_Mutation_p.T123A|snoR442_ENST00000517025.1_RNA|LIN54_ENST00000506560.1_Missense_Mutation_p.T255A|LIN54_ENST00000446851.2_Missense_Mutation_p.T123A|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Missense_Mutation_p.T344A|Y_RNA_ENST00000362660.1_RNA|LIN54_ENST00000395283.2_Missense_Mutation_p.T255A	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	344					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TTGGGAGCAGTTGCCAGAGGA	0.458																																						dbGAP											0													183.0	163.0	169.0					4																	83867549		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1030A>G	4.37:g.83867549T>C	ENSP00000341947:p.Thr344Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	pfam_TCR	p.T344A	ENST00000340417.3	37	c.1030	CCDS3599.1	4	.	.	.	.	.	.	.	.	.	.	T	8.629	0.893258	0.17613	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	6.01	4.8	0.61643	.	0.204227	0.50627	N	0.000108	T	0.30541	0.0768	N	0.14661	0.345	0.80722	D	1	B;B;B	0.17667	0.023;0.002;0.002	B;B;B	0.12837	0.008;0.004;0.004	T	0.08186	-1.0734	9	0.08837	T	0.75	-11.0256	9.5041	0.39035	0.0:0.137:0.0:0.863	.	255;216;344	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	A	344;255;123;123;123;255;344	.	ENSP00000341947:T344A	T	-	1	0	LIN54	84086573	1.000000	0.71417	0.957000	0.39632	0.908000	0.53690	3.781000	0.55394	1.056000	0.40484	0.533000	0.62120	ACT	LIN54	-	NULL	ENSG00000189308		0.458	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN54	HGNC	protein_coding	OTTHUMT00000252626.2	398	0.00	0	T	NM_194282		83867549	83867549	-1	no_errors	ENST00000340417	ensembl	human	known	69_37n	missense	260	40.50	177	SNP	0.974	C
LIPA	3988	genome.wustl.edu	37	10	90982282	90982282	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:90982282A>G	ENST00000336233.5	-	8	1202	c.880T>C	c.(880-882)Tta>Cta	p.L294L	LIPA_ENST00000371837.1_Silent_p.L238L|LIPA_ENST00000456827.1_Silent_p.L294L			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	294					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CTCCAGTGTAACATGTTTTGC	0.393																																						dbGAP											0													102.0	91.0	95.0					10																	90982282		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.880T>C	10.37:g.90982282A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase	p.V130A	ENST00000336233.5	37	c.389	CCDS7401.1	10	.	.	.	.	.	.	.	.	.	.	A	8.910	0.958581	0.18507	.	.	ENSG00000107798	ENST00000542307	.	.	.	4.77	-8.0	0.01126	.	.	.	.	.	T	0.14527	0.0351	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	T	0.21621	-1.0240	5	0.19590	T	0.45	-1.7072	2.6417	0.04973	0.1468:0.0951:0.289:0.4691	.	.	.	.	A	130	.	ENSP00000437564:V130A	V	-	2	0	LIPA	90972262	0.000000	0.05858	0.027000	0.17364	0.982000	0.71751	-2.432000	0.01022	-1.438000	0.01965	-0.256000	0.11100	GTT	LIPA	-	NULL	ENSG00000107798		0.393	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	HGNC	protein_coding	OTTHUMT00000049308.1	168	0.00	0	A	NM_000235		90982282	90982282	-1	no_errors	ENST00000542307	ensembl	human	known	69_37n	missense	90	46.75	79	SNP	0.380	G
LIPT1	51601	genome.wustl.edu	37	2	99779272	99779272	+	Silent	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:99779272C>A	ENST00000393473.2	+	3	1076	c.852C>A	c.(850-852)tcC>tcA	p.S284S	LIPT1_ENST00000340066.1_Silent_p.S284S|LIPT1_ENST00000393471.2_Silent_p.S284S|LIPT1_ENST00000393474.3_Silent_p.S284S|LIPT1_ENST00000393477.3_Silent_p.S284S|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	284					cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TAAATACTTCCTTTCATGTGT	0.333																																					GBM(84;665 1268 21657 25485 30647)	dbGAP											0													43.0	44.0	44.0					2																	99779272		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.852C>A	2.37:g.99779272C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ1	Silent	SNP	pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase	p.S284	ENST00000393473.2	37	c.852	CCDS2039.1	2																																																																																			LIPT1	-	tigrfam_LipoylTrfase_LipoateP_Ligase	ENSG00000144182		0.333	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPT1	HGNC	protein_coding	OTTHUMT00000253128.1	181	0.00	0	C	NM_015929		99779272	99779272	+1	no_errors	ENST00000340066	ensembl	human	known	69_37n	silent	133	40.62	91	SNP	0.054	A
LMAN1	3998	genome.wustl.edu	37	18	57013194	57013194	+	Frame_Shift_Del	DEL	T	T	-	rs553350987		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:57013194delT	ENST00000251047.5	-	8	1629	c.912delA	c.(910-912)aaafs	p.K304fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	304					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGAATTCCTCTTTTTTTTTAT	0.453																																						dbGAP											0													138.0	139.0	139.0					18																	57013194		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.912delA	18.37:g.57013194delT	ENSP00000251047:p.Lys304fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Del	DEL	pfam_Lectin_leg,superfamily_ConA-like_lec_gl,superfamily_HMG_superfamily	p.E305fs	ENST00000251047.5	37	c.912	CCDS11974.1	18																																																																																			LMAN1	-	superfamily_HMG_superfamily	ENSG00000074695		0.453	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	342	0.00	0	T	NM_005570		57013194	57013194	-1	no_errors	ENST00000251047	ensembl	human	known	69_37n	frame_shift_del	77	59.81	125	DEL	0.898	-
LMAN1	3998	genome.wustl.edu	37	18	57013231	57013231	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:57013231T>C	ENST00000251047.5	-	8	1592	c.875A>G	c.(874-876)gAa>gGa	p.E292G	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	292					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GTGCTCAAATTCCTCCTGATA	0.383																																						dbGAP											0													133.0	136.0	135.0					18																	57013231		2203	4300	6503	-	-	-	SO:0001583	missense	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.875A>G	18.37:g.57013231T>C	ENSP00000251047:p.Glu292Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl,superfamily_HMG_superfamily	p.E292G	ENST00000251047.5	37	c.875	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883145	0.91740	.	.	ENSG00000074695	ENST00000251047	D	0.99292	-5.7	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	M	0.79123	2.44	0.80722	D	1	D	0.56287	0.975	P	0.55455	0.776	D	0.99312	1.0904	10	0.45353	T	0.12	-30.6229	15.6453	0.77042	0.0:0.0:0.0:1.0	.	292	P49257	LMAN1_HUMAN	G	292	ENSP00000251047:E292G	ENSP00000251047:E292G	E	-	2	0	LMAN1	55164211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.178000	0.69098	0.533000	0.62120	GAA	LMAN1	-	superfamily_HMG_superfamily	ENSG00000074695		0.383	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	469	0.00	0	T	NM_005570		57013231	57013231	-1	no_errors	ENST00000251047	ensembl	human	known	69_37n	missense	62	77.12	209	SNP	1.000	C
LPAR6	10161	genome.wustl.edu	37	13	48985686	48985686	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:48985686A>T	ENST00000378434.4	-	7	2498	c.874T>A	c.(874-876)Tac>Aac	p.Y292N	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.Y292N	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GATGTAAAGTAGTAAACTATA	0.373																																						dbGAP											19	Whole gene deletion(15)|Unknown(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											78.0	83.0	81.0					13																	48985686		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.874T>A	13.37:g.48985686A>T	ENSP00000367691:p.Tyr292Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y5_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.Y292N	ENST00000378434.4	37	c.874	CCDS9410.1	13	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646736	0.67358	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.37752	1.18;1.18	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50659	-0.8802	10	0.46703	T	0.11	.	15.9496	0.79823	1.0:0.0:0.0:0.0	.	292	P43657	LPAR6_HUMAN	N	292	ENSP00000367691:Y292N;ENSP00000344353:Y292N	ENSP00000344353:Y292N	Y	-	1	0	LPAR6	47883687	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	9.339000	0.96797	2.163000	0.67991	0.374000	0.22700	TAC	LPAR6	-	prints_7TM_GPCR_Rhodpsn	ENSG00000139679		0.373	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR6	HGNC	protein_coding	OTTHUMT00000276280.2	182	0.00	0	A	NM_005767		48985686	48985686	-1	no_errors	ENST00000345941	ensembl	human	known	69_37n	missense	62	49.18	60	SNP	1.000	T
LPHN2	23266	genome.wustl.edu	37	1	82302570	82302570	+	5'UTR	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:82302570A>C	ENST00000370728.1	+	0	546				LPHN2_ENST00000370713.1_5'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000359929.3_5'UTR|LPHN2_ENST00000370725.1_5'UTR|LPHN2_ENST00000370723.1_5'UTR|LPHN2_ENST00000319517.6_5'UTR|LPHN2_ENST00000271029.4_5'UTR|LPHN2_ENST00000370715.1_5'UTR|LPHN2_ENST00000370730.1_5'UTR|LPHN2_ENST00000394879.1_5'UTR|LPHN2_ENST00000335786.5_5'UTR|LPHN2_ENST00000370727.1_5'UTR|LPHN2_ENST00000370721.1_5'UTR|LPHN2_ENST00000370717.2_5'UTR			O95490	LPHN2_HUMAN	latrophilin 2						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGTTTTTCAGATATGAAGATC	0.328																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.-100A>C	1.37:g.82302570A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	RNA	SNP	-	NULL	ENST00000370728.1	37	NULL		1																																																																																			LPHN2	-	-	ENSG00000117114		0.328	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	62	0.00	0	A	NM_012302		82302570	82302570	+1	no_errors	ENST00000469377	ensembl	human	known	69_37n	rna	32	40.74	22	SNP	1.000	C
LPIN1	23175	genome.wustl.edu	37	2	11905715	11905715	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:11905715G>T	ENST00000256720.2	+	2	141	c.48G>T	c.(46-48)aaG>aaT	p.K16N	LPIN1_ENST00000449576.2_Missense_Mutation_p.K65N|MIR548S_ENST00000581352.1_RNA|LPIN1_ENST00000396099.1_Missense_Mutation_p.K22N|LPIN1_ENST00000425416.2_Missense_Mutation_p.K22N|LPIN1_ENST00000396098.1_Missense_Mutation_p.K22N	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	16	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCACCGTGAAGGAGCTCTACA	0.507																																						dbGAP											0													126.0	120.0	122.0					2																	11905715		2203	4300	6503	-	-	-	SO:0001583	missense	0			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.48G>T	2.37:g.11905715G>T	ENSP00000256720:p.Lys16Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.K65N	ENST00000256720.2	37	c.195	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623168	0.87460	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000441684;ENST00000423495	T;T;T;T;T;T;D	0.87571	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-2.27	5.37	4.5	0.54988	Lipin, N-terminal (1);	0.043938	0.85682	D	0.000000	D	0.93602	0.7957	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.99;0.998	D	0.93873	0.7164	10	0.87932	D	0	-30.8837	10.5695	0.45192	0.1487:0.0:0.8513:0.0	.	65;16;22	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	N	65;22;22;22;16;16;16	ENSP00000397908:K65N;ENSP00000379405:K22N;ENSP00000379406:K22N;ENSP00000401522:K22N;ENSP00000256720:K16N;ENSP00000412578:K16N;ENSP00000392424:K16N	ENSP00000256720:K16N	K	+	3	2	LPIN1	11823166	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.500000	0.60387	1.273000	0.44346	0.655000	0.94253	AAG	LPIN1	-	pfam_Lipin_N	ENSG00000134324		0.507	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	129	0.00	0	G	NM_145693		11905715	11905715	+1	no_errors	ENST00000449576	ensembl	human	known	69_37n	missense	107	38.15	66	SNP	1.000	T
LPPR5	163404	genome.wustl.edu	37	1	99470004	99470005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:99470004_99470005insC	ENST00000263177.4	-	1	444_445	c.223_224insG	c.(223-225)gtcfs	p.V75fs	LPPR5_ENST00000370188.3_Frame_Shift_Ins_p.V75fs|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000534652.1_5'UTR	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		75						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GAGCACGGGGACCCCGGCGGCC	0.728																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000263177.4:c.224dupG	1.37:g.99470008_99470008dupC	ENSP00000263177:p.Val75fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Frame_Shift_Ins	INS	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.V75fs	ENST00000263177.4	37	c.224_223	CCDS30778.1	1																																																																																			LPPR5	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000117598		0.728	LPPR5-002	KNOWN	basic|CCDS	protein_coding	LPPR5	Clone_based_vega_gene	protein_coding	OTTHUMT00000393221.1	11	0.00	0	-			99470004	99470005	-1	no_errors	ENST00000263177	ensembl	human	known	69_37n	frame_shift_ins	4	55.56	5	INS	1.000:0.996	C
LRBA	987	genome.wustl.edu	37	4	151727435	151727435	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:151727435T>A	ENST00000357115.3	-	33	5749	c.5506A>T	c.(5506-5508)Ata>Tta	p.I1836L	LRBA_ENST00000535741.1_Missense_Mutation_p.I1836L|LRBA_ENST00000510413.1_Missense_Mutation_p.I1836L|LRBA_ENST00000507224.1_Missense_Mutation_p.I1836L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1836						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTTCCTTCTATAAGCAGTTCT	0.348																																						dbGAP											0													53.0	55.0	54.0					4																	151727435		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5506A>T	4.37:g.151727435T>A	ENSP00000349629:p.Ile1836Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.I1836L	ENST00000357115.3	37	c.5506	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.990054|3.990054	0.74589|0.74589	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|T	0.57107|0.55930	0.85;1.01;0.85;0.42|0.49	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.049573|.	0.85682|.	N|.	0.000000|.	T|T	0.67515|0.67515	0.2901|0.2901	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	D;P|.	0.59357|.	0.985;0.655|.	D;B|.	0.67548|.	0.952;0.421|.	T|T	0.70174|0.70174	-0.4944|-0.4944	10|7	0.14252|0.66056	T|D	0.57|0.02	.|.	16.1037|16.1037	0.81205|0.81205	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1836;1836|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	L|F	1836|488	ENSP00000446299:I1836L;ENSP00000421552:I1836L;ENSP00000349629:I1836L;ENSP00000422180:I1836L|ENSP00000426669:L488F	ENSP00000349629:I1836L|ENSP00000426669:L488F	I|L	-|-	1|3	0|2	LRBA|LRBA	151946885|151946885	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	8.021000|8.021000	0.88750|0.88750	2.191000|2.191000	0.70037|0.70037	0.528000|0.528000	0.53228|0.53228	ATA|TTA	LRBA	-	NULL	ENSG00000198589		0.348	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	272	0.00	0	T			151727435	151727435	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	153	38.31	95	SNP	1.000	A
LRGUK	136332	genome.wustl.edu	37	7	133863282	133863282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:133863282delC	ENST00000285928.2	+	10	1204	c.1135delC	c.(1135-1137)cccfs	p.P380fs		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	380						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATATGATCCTCCCCCTGAAGT	0.403																																						dbGAP											0													67.0	63.0	64.0					7																	133863282		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1135delC	7.37:g.133863282delC	ENSP00000285928:p.Pro380fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3I1	Frame_Shift_Del	DEL	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.P380fs	ENST00000285928.2	37	c.1135	CCDS5830.1	7																																																																																			LRGUK	-	NULL	ENSG00000155530		0.403	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	269	0.00	0	C	NM_144648		133863282	133863282	+1	no_errors	ENST00000285928	ensembl	human	known	69_37n	frame_shift_del	149	35.02	83	DEL	1.000	-
LRP1	4035	genome.wustl.edu	37	12	57560770	57560770	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:57560770C>T	ENST00000243077.3	+	18	3321	c.2855C>T	c.(2854-2856)tCc>tTc	p.S952F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	952	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCCCCATCTCCTGGACGTGT	0.637																																						dbGAP											0													125.0	108.0	114.0					12																	57560770		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2855C>T	12.37:g.57560770C>T	ENSP00000243077:p.Ser952Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S952F	ENST00000243077.3	37	c.2855	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373161	0.82573	.	.	ENSG00000123384	ENST00000243077	D	0.96073	-3.9	4.72	4.72	0.59763	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.97031	0.9030	M	0.66560	2.04	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95813	0.8843	10	0.29301	T	0.29	.	16.9817	0.86329	0.0:1.0:0.0:0.0	.	952	Q07954	LRP1_HUMAN	F	952	ENSP00000243077:S952F	ENSP00000243077:S952F	S	+	2	0	LRP1	55847037	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.630000	0.61297	2.619000	0.88677	0.561000	0.74099	TCC	LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	49	0.00	0	C	NM_002332		57560770	57560770	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	37	43.94	29	SNP	1.000	T
LRP10	26020	genome.wustl.edu	37	14	23345905	23345906	+	Frame_Shift_Ins	INS	-	-	C	rs373424688		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:23345905_23345906insC	ENST00000359591.4	+	6	2123_2124	c.1432_1433insC	c.(1432-1434)gccfs	p.A478fs	LRP10_ENST00000546834.1_Frame_Shift_Ins_p.A478fs	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	478					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TAGCATCTTTGCCCCCCTCTCC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1438dupC	14.37:g.23345911_23345911dupC	ENSP00000352601:p.Ala478fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.L480fs	ENST00000359591.4	37	c.1432_1433	CCDS9578.1	14																																																																																			LRP10	-	NULL	ENSG00000197324		0.599	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP10	HGNC	protein_coding	OTTHUMT00000071663.3	82	0.00	0	-			23345905	23345906	+1	no_errors	ENST00000359591	ensembl	human	known	69_37n	frame_shift_ins	61	37.11	36	INS	1.000:1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141093197	141093197	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:141093197T>C	ENST00000389484.3	-	78	13074	c.12103A>G	c.(12103-12105)Aat>Gat	p.N4035D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4035					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTTAGGATTTACTGCAATA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													98.0	102.0	101.0					2																	141093197		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12103A>G	2.37:g.141093197T>C	ENSP00000374135:p.Asn4035Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.N4035D	ENST00000389484.3	37	c.12103	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	5.240	0.229703	0.09916	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88277	-2.36	5.49	3.01	0.34805	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.064020	0.64402	D	0.000013	T	0.73265	0.3565	N	0.13168	0.305	0.34362	D	0.691142	B	0.02656	0.0	B	0.04013	0.001	T	0.64050	-0.6498	10	0.02654	T	1	.	7.2598	0.26197	0.0:0.0698:0.2798:0.6505	.	4035	Q9NZR2	LRP1B_HUMAN	D	4035;3973	ENSP00000374135:N4035D	ENSP00000374135:N4035D	N	-	1	0	LRP1B	140809667	1.000000	0.71417	0.989000	0.46669	0.845000	0.48019	3.901000	0.56303	0.417000	0.25871	0.477000	0.44152	AAT	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt	ENSG00000168702		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	174	0.00	0	T	NM_018557		141093197	141093197	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	86	44.23	69	SNP	0.963	C
LRP1B	53353	genome.wustl.edu	37	2	141130647	141130647	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:141130647T>C	ENST00000389484.3	-	69	11669	c.10698A>G	c.(10696-10698)atA>atG	p.I3566M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3566	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTGCTGGTATACACTGAC	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													185.0	175.0	179.0					2																	141130647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10698A>G	2.37:g.141130647T>C	ENSP00000374135:p.Ile3566Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I3566M	ENST00000389484.3	37	c.10698	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	18.76	3.692298	0.68271	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98381	-4.9	5.54	3.05	0.35203	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.071291	0.56097	U	0.000035	D	0.97961	0.9329	M	0.92970	3.365	0.34089	D	0.660525	P	0.38677	0.642	B	0.42653	0.394	D	0.99943	1.1435	10	0.66056	D	0.02	.	7.4168	0.27048	0.0:0.0738:0.2584:0.6678	.	3566	Q9NZR2	LRP1B_HUMAN	M	3566;3504	ENSP00000374135:I3566M	ENSP00000374135:I3566M	I	-	3	3	LRP1B	140847117	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.420000	0.34804	0.952000	0.37798	0.460000	0.39030	ATA	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	257	0.00	0	T	NM_018557		141130647	141130647	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	101	41.28	71	SNP	1.000	C
LRRC1	55227	genome.wustl.edu	37	6	53787447	53787447	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:53787447G>A	ENST00000370888.1	+	14	1708	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	477						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CACTTCTAAGGCGAGCCACTC	0.403																																						dbGAP											0													122.0	121.0	121.0					6																	53787447		1881	4113	5994	-	-	-	SO:0001819	synonymous_variant	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1431G>A	6.37:g.53787447G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN3|Q9HAC0|Q9NVF1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R477	ENST00000370888.1	37	c.1431	CCDS4953.2	6																																																																																			LRRC1	-	NULL	ENSG00000137269		0.403	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	333	0.00	0	G	NM_025168		53787447	53787447	+1	no_errors	ENST00000370888	ensembl	human	known	69_37n	silent	185	34.86	99	SNP	0.997	A
LRRC37B	114659	genome.wustl.edu	37	17	30348555	30348555	+	Silent	SNP	G	G	A	rs144851744		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:30348555G>A	ENST00000341671.7	+	1	395	c.390G>A	c.(388-390)agG>agA	p.R130R	LRRC37B_ENST00000327564.7_Silent_p.R157R|LRRC37B_ENST00000584368.1_Silent_p.R142R|LRRC37B_ENST00000394713.3_Silent_p.R130R|LRRC37B_ENST00000543378.2_Silent_p.R48R	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	130						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CAGAAGAAAGGCTCCCAGAGG	0.552																																						dbGAP											0													59.0	63.0	62.0					17																	30348555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.390G>A	17.37:g.30348555G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RC9|Q5YKG6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R130	ENST00000341671.7	37	c.390	CCDS32609.1	17																																																																																			LRRC37B	-	NULL	ENSG00000185158		0.552	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	174	0.00	0	G	NM_052888		30348555	30348555	+1	no_errors	ENST00000341671	ensembl	human	known	69_37n	silent	133	42.17	97	SNP	0.014	A
LRRC8B	23507	genome.wustl.edu	37	1	90049784	90049784	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:90049784G>A	ENST00000330947.2	+	5	1935	c.1575G>A	c.(1573-1575)caG>caA	p.Q525Q	LRRC8B_ENST00000358200.4_Silent_p.Q525Q|LRRC8B_ENST00000439853.1_Silent_p.Q525Q|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	525					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCCCTGAACAGTTGAGTACTA	0.458																																						dbGAP											0													66.0	73.0	71.0					1																	90049784		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1575G>A	1.37:g.90049784G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q525	ENST00000330947.2	37	c.1575	CCDS724.1	1																																																																																			LRRC8B	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000197147		0.458	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	188	0.00	0	G	NM_015350		90049784	90049784	+1	no_errors	ENST00000330947	ensembl	human	known	69_37n	silent	93	38.41	58	SNP	0.384	A
LRRK1	79705	genome.wustl.edu	37	15	101606410	101606410	+	Splice_Site	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:101606410G>T	ENST00000388948.3	+	32	6127	c.5768G>T	c.(5767-5769)aGg>aTg	p.R1923M	LRRK1_ENST00000284395.5_Splice_Site_p.R1920M|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGGTCCCCAGGTACGTTTCC	0.627																																						dbGAP											0													81.0	83.0	83.0					15																	101606410		2046	4205	6251	-	-	-	SO:0001630	splice_region_variant	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5768+1G>T	15.37:g.101606410G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.R1923M	ENST00000388948.3	37	c.5768	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794541	0.90453	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;D	0.81821	-1.46;-1.54	5.35	5.35	0.76521	.	0.050852	0.85682	D	0.000000	D	0.89150	0.6633	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90024	0.4130	10	0.87932	D	0	.	18.6781	0.91535	0.0:0.0:1.0:0.0	.	1923	Q38SD2	LRRK1_HUMAN	M	1923;1920;614;477	ENSP00000373600:R1923M;ENSP00000284395:R1920M	ENSP00000284395:R1920M	R	+	2	0	LRRK1	99423933	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.245000	0.95431	2.506000	0.84524	0.655000	0.94253	AGG	LRRK1	-	NULL	ENSG00000154237		0.627	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	114	0.00	0	G	NM_024652	Missense_Mutation	101606410	101606410	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	missense	46	42.50	34	SNP	1.000	T
LRRTM1	347730	genome.wustl.edu	37	2	80529542	80529542	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:80529542C>T	ENST00000295057.3	-	2	2059	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R468H|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	468					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TTGCTTCCTGCGCTGCGTGAC	0.537										HNSCC(69;0.2)																												dbGAP											0													128.0	109.0	115.0					2																	80529542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1403G>A	2.37:g.80529542C>T	ENSP00000295057:p.Arg468His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R468H	ENST00000295057.3	37	c.1403	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259725	0.39995	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.48836	0.8;0.8	5.18	5.18	0.71444	.	0.069737	0.64402	U	0.000018	T	0.32315	0.0825	N	0.14661	0.345	0.80722	D	1	B	0.23490	0.086	B	0.12837	0.008	T	0.09640	-1.0665	9	.	.	.	.	18.6948	0.91596	0.0:1.0:0.0:0.0	.	468	Q86UE6	LRRT1_HUMAN	H	468	ENSP00000295057:R468H;ENSP00000386646:R468H	.	R	-	2	0	LRRTM1	80383053	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.919000	0.63383	2.383000	0.81215	0.561000	0.74099	CGC	LRRTM1	-	NULL	ENSG00000162951		0.537	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	50	0.00	0	C	NM_178839		80529542	80529542	-1	no_errors	ENST00000295057	ensembl	human	known	69_37n	missense	30	29.55	13	SNP	1.000	T
LTBP3	4054	genome.wustl.edu	37	11	65314282	65314283	+	Frame_Shift_Ins	INS	-	-	C	rs372702317		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:65314282_65314283insC	ENST00000301873.5	-	15	2484_2485	c.2216_2217insG	c.(2215-2217)ggcfs	p.G739fs	LTBP3_ENST00000536982.1_Frame_Shift_Ins_p.G365fs|LTBP3_ENST00000322147.4_Frame_Shift_Ins_p.G739fs|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000532932.1_Frame_Shift_Ins_p.G169fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	739	Cys-rich.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GACAGGCCCCGCCCCCCTGGCT	0.728																																						dbGAP											0									,,	43,4139		3,37,2051					,,	4.7	1.0			25	37,8123		4,29,4047	no	frameshift,frameshift,frameshift	LTBP3	NM_021070.4,NM_001164266.1,NM_001130144.2	,,	7,66,6098	A1A1,A1R,RR		0.4534,1.0282,0.6482	,,	,,		80,12262				-	-	-	SO:0001589	frameshift_variant	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2217dupG	11.37:g.65314288_65314288dupC	ENSP00000301873:p.Gly739fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15107|Q96HB9|Q9H7K2|Q9UFN4	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G740fs	ENST00000301873.5	37	c.2217_2216	CCDS44647.1	11																																																																																			LTBP3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000168056		0.728	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	20	0.00	0	-	NM_021070		65314282	65314283	-1	no_errors	ENST00000301873	ensembl	human	known	69_37n	frame_shift_ins	13	38.10	8	INS	1.000:1.000	C
LY6G6C	80740	genome.wustl.edu	37	6	31687959	31687959	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:31687959C>T	ENST00000375819.2	-	2	239	c.74G>A	c.(73-75)tGc>tAc	p.C25Y	LY6G6C_ENST00000495859.1_5'UTR	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	25	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GACCTTGTAGCAGGAGTGACA	0.592																																						dbGAP											0													109.0	84.0	93.0					6																	31687959		1510	2709	4219	-	-	-	SO:0001583	missense	0				CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.74G>A	6.37:g.31687959C>T	ENSP00000364978:p.Cys25Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SRS8|Q8IY94	Missense_Mutation	SNP	NULL	p.C25Y	ENST00000375819.2	37	c.74	CCDS4714.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014884	0.75161	.	.	ENSG00000204421	ENST00000375819	T	0.63913	-0.07	5.11	5.11	0.69529	.	0.000000	0.52532	D	0.000071	T	0.61009	0.2313	L	0.27053	0.805	0.37008	D	0.895573	D	0.76494	0.999	D	0.85130	0.997	T	0.68708	-0.5337	10	0.87932	D	0	.	14.018	0.64536	0.0:1.0:0.0:0.0	.	25	O95867	LY66C_HUMAN	Y	25	ENSP00000364978:C25Y	ENSP00000364978:C25Y	C	-	2	0	LY6G6C	31795938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.377000	0.52425	2.391000	0.81399	0.591000	0.81541	TGC	LY6G6C	-	NULL	ENSG00000204421		0.592	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6C	HGNC	protein_coding	OTTHUMT00000076530.2	119	0.00	0	C			31687959	31687959	-1	no_errors	ENST00000375819	ensembl	human	known	69_37n	missense	64	37.86	39	SNP	1.000	T
LYPLAL1	127018	genome.wustl.edu	37	1	219385044	219385044	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:219385044C>T	ENST00000366928.5	+	5	735	c.688C>T	c.(688-690)Cca>Tca	p.P230S	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Missense_Mutation_p.P214S	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	230					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TACAAAGCTGCCAGGAGAAAT	0.323																																						dbGAP											0													66.0	68.0	68.0					1																	219385044		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.688C>T	1.37:g.219385044C>T	ENSP00000355895:p.Pro230Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put	p.P230S	ENST00000366928.5	37	c.688	CCDS1522.1	1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837960	0.71373	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.26373	1.82;1.74	6.16	6.16	0.99307	.	0.052739	0.85682	D	0.000000	T	0.35189	0.0923	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.77557	0.99;0.975;0.944	T	0.41805	-0.9488	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	106;214;230	B3KVW3;Q5VWZ2-2;Q5VWZ2	.;.;LYPL1_HUMAN	S	230;214	ENSP00000355895:P230S;ENSP00000355894:P214S	ENSP00000355894:P214S	P	+	1	0	LYPLAL1	217451667	1.000000	0.71417	0.829000	0.32907	0.178000	0.23041	6.497000	0.73674	2.937000	0.99478	0.650000	0.86243	CCA	LYPLAL1	-	NULL	ENSG00000143353		0.323	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLAL1	HGNC	protein_coding	OTTHUMT00000090208.1	235	0.00	0	C	NM_138794		219385044	219385044	+1	no_errors	ENST00000366928	ensembl	human	known	69_37n	missense	192	26.44	69	SNP	0.998	T
LYST	1130	genome.wustl.edu	37	1	235945333	235945333	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:235945333A>G	ENST00000389794.3	-	15	5091	c.4917T>C	c.(4915-4917)tcT>tcC	p.S1639S	LYST_ENST00000389793.2_Silent_p.S1639S|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1639					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATTGCTATCAGATGACAAAC	0.353																																						dbGAP											0													87.0	86.0	86.0					1																	235945333		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4917T>C	1.37:g.235945333A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1639	ENST00000389794.3	37	c.4917	CCDS31062.1	1																																																																																			LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.353	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	94	0.00	0	A			235945333	235945333	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	silent	74	26.00	26	SNP	0.879	G
MAGEB18	286514	genome.wustl.edu	37	X	26157615	26157615	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:26157615G>A	ENST00000325250.1	+	2	700	c.513G>A	c.(511-513)agG>agA	p.R171R		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	171	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ATCCCATCAGGCACTACTATG	0.453																																						dbGAP											0													56.0	44.0	48.0					X																	26157615		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.513G>A	X.37:g.26157615G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R171	ENST00000325250.1	37	c.513	CCDS14216.1	X																																																																																			MAGEB18	-	pfam_MAGE,pfscan_MAGE	ENSG00000176774		0.453	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	HGNC	protein_coding	OTTHUMT00000056120.1	72	0.00	0	G	NM_173699		26157615	26157615	+1	no_errors	ENST00000325250	ensembl	human	known	69_37n	silent	33	35.29	18	SNP	0.238	A
MAGEB4	4115	genome.wustl.edu	37	X	30260296	30260296	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:30260296G>A	ENST00000378982.2	+	1	240	c.44G>A	c.(43-45)cGc>cAc	p.R15H	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	15								p.R15H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CGTGAGAAACGCCAGCGGACC	0.567																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											100.0	80.0	87.0					X																	30260296		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.44G>A	X.37:g.30260296G>A	ENSP00000368266:p.Arg15His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R15H	ENST00000378982.2	37	c.44	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703500	0.48412	.	.	ENSG00000120289	ENST00000378982	T	0.06608	3.28	3.22	0.428	0.16499	Melanoma associated antigen, MAGE, N-terminal (1);	1.576910	0.05036	U	0.475533	T	0.22205	0.0535	M	0.87547	2.89	0.09310	N	1	D	0.60575	0.988	P	0.57846	0.828	T	0.08597	-1.0714	10	0.54805	T	0.06	.	5.1586	0.15048	0.4466:0.0:0.5534:0.0	.	15	O15481	MAGB4_HUMAN	H	15	ENSP00000368266:R15H	ENSP00000368266:R15H	R	+	2	0	MAGEB4	30170217	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.011000	0.13264	-0.029000	0.13827	0.544000	0.68410	CGC	MAGEB4	-	pfam_Melanoma_ass_antigen_N	ENSG00000120289		0.567	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	67	0.00	0	G	NM_002367		30260296	30260296	+1	no_errors	ENST00000378982	ensembl	human	known	69_37n	missense	41	36.92	24	SNP	0.000	A
MAGIX	79917	genome.wustl.edu	37	X	49020993	49020993	+	Intron	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:49020993A>G	ENST00000412696.2	+	3	196				MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000376338.3_Intron|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Intron	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked																		GGTCCTAGGTAGTTTCCATGG	0.527																																						dbGAP											0													170.0	170.0	170.0					X																	49020993		2087	4196	6283	-	-	-	SO:0001627	intron_variant	0			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.197-52A>G	X.37:g.49020993A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6XND4|A8MSX9|B7WP26|Q14C81	RNA	SNP	-	NULL	ENST00000412696.2	37	NULL	CCDS48106.1	X																																																																																			MAGIX	-	-	ENSG00000017621		0.527	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGIX	HGNC	protein_coding	OTTHUMT00000378832.1	323	0.00	0	A	NM_024859		49020993	49020993	+1	no_errors	ENST00000498742	ensembl	human	known	69_37n	rna	195	41.62	139	SNP	0.000	G
MALAT1	378938	genome.wustl.edu	37	11	65269898	65269898	+	lincRNA	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:65269898delT	ENST00000534336.1	+	0	4666					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGTAAGCAAGTTTTTTTTTAG	0.299																																						dbGAP											0										198,19,1665		16,0,166,1,17,741	18.0	20.0	19.0			3.8	0.8	11	dbSNP_130	20	303,27,3672		17,0,269,1,25,1689	no	intergenic				33,0,435,2,42,2430	A1A1,A1A2,A1R,A2A2,A2R,RR		8.2459,11.5303,9.2964			65269898	501,46,5337	872	1988	2860	-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269898delT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.299	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	55	0.00	0	T	NR_002819		65269898	65269898	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	40	36.51	23	DEL	0.013	-
MAN2A1	4124	genome.wustl.edu	37	5	109065106	109065106	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:109065106T>C	ENST00000261483.4	+	4	1651	c.599T>C	c.(598-600)gTc>gCc	p.V200A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	200					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AATAACATGGTCCTAAAGCTG	0.348																																						dbGAP											0													122.0	122.0	122.0					5																	109065106		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.599T>C	5.37:g.109065106T>C	ENSP00000261483:p.Val200Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16767	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.V200A	ENST00000261483.4	37	c.599	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725997	0.89298	.	.	ENSG00000112893	ENST00000261483	T	0.25250	1.81	5.93	5.93	0.95920	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.058759	0.64402	D	0.000003	T	0.52158	0.1717	M	0.85197	2.74	0.80722	D	1	P	0.50272	0.933	P	0.58391	0.838	T	0.54497	-0.8285	10	0.41790	T	0.15	-15.9776	16.3766	0.83401	0.0:0.0:0.0:1.0	.	200	Q16706	MA2A1_HUMAN	A	200	ENSP00000261483:V200A	ENSP00000261483:V200A	V	+	2	0	MAN2A1	109093005	1.000000	0.71417	0.963000	0.40424	0.993000	0.82548	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	GTC	MAN2A1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000112893		0.348	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	312	0.00	0	T			109065106	109065106	+1	no_errors	ENST00000261483	ensembl	human	known	69_37n	missense	210	29.29	87	SNP	1.000	C
MAP1A	4130	genome.wustl.edu	37	15	43817446	43817446	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:43817446C>A	ENST00000300231.5	+	4	4225	c.3775C>A	c.(3775-3777)Cat>Aat	p.H1259N	MAP1A_ENST00000399453.1_Missense_Mutation_p.H1259N|MAP1A_ENST00000382031.1_Missense_Mutation_p.H1497N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1259					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCCAGAGCCCCATGCAGCCAC	0.552																																						dbGAP											0													76.0	90.0	85.0					15																	43817446		2152	4259	6411	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3775C>A	15.37:g.43817446C>A	ENSP00000300231:p.His1259Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.H1259N	ENST00000300231.5	37	c.3775	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.132439	0.01756	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01388	4.95;4.96;4.96	4.98	-3.53	0.04667	.	.	.	.	.	T	0.01254	0.0041	L	0.46741	1.465	0.09310	N	1	B	0.26195	0.144	B	0.24848	0.056	T	0.48007	-0.9072	9	0.15066	T	0.55	9.0183	3.8577	0.08982	0.2691:0.3009:0.0:0.4299	.	1259	P78559	MAP1A_HUMAN	N	1497;1259;1259	ENSP00000371462:H1497N;ENSP00000382380:H1259N;ENSP00000300231:H1259N	ENSP00000300231:H1259N	H	+	1	0	MAP1A	41604738	0.000000	0.05858	0.001000	0.08648	0.304000	0.27724	-2.237000	0.01200	-0.480000	0.06803	-0.253000	0.11424	CAT	MAP1A	-	NULL	ENSG00000166963		0.552	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	116	0.00	0	C	NM_002373		43817446	43817446	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	81	49.38	79	SNP	0.000	A
MAN2C1	4123	genome.wustl.edu	37	15	75656988	75656988	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:75656988T>A	ENST00000267978.5	-	5	487	c.441A>T	c.(439-441)gaA>gaT	p.E147D	MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000565683.1_Missense_Mutation_p.E147D|MAN2C1_ENST00000569482.1_Missense_Mutation_p.E147D|MAN2C1_ENST00000563622.1_Missense_Mutation_p.E147D	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	147					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCAGGCTACTTCCACATAGA	0.602																																						dbGAP											0													32.0	30.0	31.0					15																	75656988		2197	4294	6491	-	-	-	SO:0001583	missense	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.441A>T	15.37:g.75656988T>A	ENSP00000267978:p.Glu147Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.E147D	ENST00000267978.5	37	c.441	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	t	21.4	4.137762	0.77775	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.32515	1.45	5.12	5.12	0.69794	.	0.103869	0.64402	D	0.000004	T	0.59211	0.2177	M	0.89968	3.075	0.48975	D	0.999734	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.65738	-0.6095	10	0.66056	D	0.02	-12.7505	8.6527	0.34044	0.0:0.0963:0.0:0.9037	.	147;147;147	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	D	147	ENSP00000267978:E147D	ENSP00000267978:E147D	E	-	3	2	MAN2C1	73444041	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.635000	0.37134	1.935000	0.56089	0.398000	0.26397	GAA	MAN2C1	-	NULL	ENSG00000140400		0.602	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	14	0.00	0	T			75656988	75656988	-1	no_errors	ENST00000267978	ensembl	human	known	69_37n	missense	2	80.00	8	SNP	1.000	A
MAP3K12	7786	genome.wustl.edu	37	12	53875788	53875788	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:53875788C>A	ENST00000267079.2	-	14	2643	c.2418G>T	c.(2416-2418)gaG>gaT	p.E806D	MAP3K12_ENST00000547035.1_Missense_Mutation_p.E839D|MAP3K12_ENST00000547488.1_Missense_Mutation_p.E839D	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	806					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGGGATGACCTCTGAAGGAG	0.562											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													100.0	93.0	95.0					12																	53875788		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2418G>T	12.37:g.53875788C>A	ENSP00000267079:p.Glu806Asp	Somatic	996	WXS	Illumina GAIIx	Phase_IV	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E806D	ENST00000267079.2	37	c.2418	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	C	4.466	0.086287	0.08583	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.55588	0.51;0.51;0.51	4.37	2.56	0.30785	.	0.147634	0.31566	N	0.007433	T	0.22205	0.0535	N	0.08118	0	0.26894	N	0.96727	B;B	0.27625	0.183;0.115	B;B	0.19666	0.026;0.007	T	0.28744	-1.0034	10	0.02654	T	1	.	6.7403	0.23433	0.0:0.7904:0.0:0.2096	.	839;806	G3V1Y2;Q12852	.;M3K12_HUMAN	D	806;839;839	ENSP00000267079:E806D;ENSP00000449038:E839D;ENSP00000448689:E839D	ENSP00000267079:E806D	E	-	3	2	MAP3K12	52162055	0.936000	0.31750	0.609000	0.28983	0.327000	0.28475	0.294000	0.19047	0.799000	0.34018	0.491000	0.48974	GAG	MAP3K12	-	pirsf_MAP3K12_MAP3K13	ENSG00000139625		0.562	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	116	0.00	0	C	NM_006301		53875788	53875788	-1	no_errors	ENST00000267079	ensembl	human	known	69_37n	missense	77	34.17	41	SNP	0.979	A
MAP3K15	389840	genome.wustl.edu	37	X	19410220	19410220	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:19410220A>G	ENST00000338883.4	-	18	2330	c.2331T>C	c.(2329-2331)gaT>gaC	p.D777D	MAP3K15_ENST00000359173.3_Silent_p.D212D|MAP3K15_ENST00000469203.2_Silent_p.D609D|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCAGAACATTATCGCCCTTCG	0.458																																						dbGAP											0													53.0	50.0	51.0					X																	19410220		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2331T>C	X.37:g.19410220A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D777	ENST00000338883.4	37	c.2331		X																																																																																			MAP3K15	-	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	ENSG00000180815		0.458	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		149	0.00	0	A	NM_001001671		19410220	19410220	-1	no_errors	ENST00000338883	ensembl	human	known	69_37n	silent	74	42.64	55	SNP	0.995	G
MAP7	9053	genome.wustl.edu	37	6	136710531	136710531	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:136710531A>G	ENST00000354570.3	-	4	779	c.369T>C	c.(367-369)gcT>gcC	p.A123A	MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000454590.1_Silent_p.A145A|MAP7_ENST00000544465.1_Silent_p.A108A|MAP7_ENST00000438100.2_Silent_p.A145A	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	123					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTCCTCCACAGCAGCCCTCC	0.572																																						dbGAP											0													134.0	128.0	130.0					6																	136710531		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.369T>C	6.37:g.136710531A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	pfam_E-MAP-115	p.A145	ENST00000354570.3	37	c.435	CCDS5178.1	6																																																																																			MAP7	-	NULL	ENSG00000135525		0.572	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	229	0.43	1	A	NM_003980		136710531	136710531	-1	no_errors	ENST00000454590	ensembl	human	known	69_37n	silent	122	42.13	91	SNP	0.002	G
MAP3K4	4216	genome.wustl.edu	37	6	161529876	161529876	+	Silent	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:161529876T>A	ENST00000392142.4	+	22	4369	c.4221T>A	c.(4219-4221)ggT>ggA	p.G1407G	MAP3K4_ENST00000366919.2_Silent_p.G1357G|MAP3K4_ENST00000366920.2_Silent_p.G1403G|MAP3K4_ENST00000348824.7_Silent_p.G1353G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTATTTTGGTGTGGAGCTCC	0.443																																						dbGAP											0													161.0	158.0	159.0					6																	161529876		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4221T>A	6.37:g.161529876T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	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	p.G1407	ENST00000392142.4	37	c.4221	CCDS34565.1	6																																																																																			MAP3K4	-	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	ENSG00000085511		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	388	0.00	0	T			161529876	161529876	+1	no_errors	ENST00000392142	ensembl	human	known	69_37n	silent	209	41.67	150	SNP	1.000	A
MAPKAP1	79109	genome.wustl.edu	37	9	128201005	128201005	+	3'UTR	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:128201005delG	ENST00000373498.1	-	0	1798				MAPKAP1_ENST00000350766.3_3'UTR|MAPKAP1_ENST00000265960.3_3'UTR|MAPKAP1_ENST00000373497.5_3'UTR|MAPKAP1_ENST00000373503.3_3'UTR|MAPKAP1_ENST00000373511.2_3'UTR|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000394063.1_3'UTR			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CTCCCTCCTAGGGGGCCCCCG	0.662																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.*161C>-	9.37:g.128201005delG		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	RNA	DEL	-	NULL	ENST00000373498.1	37	NULL	CCDS35140.1	9																																																																																			MAPKAP1	-	-	ENSG00000119487		0.662	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	26	0.00	0	G			128201005	128201005	-1	no_errors	ENST00000483937	ensembl	human	known	69_37n	rna	12	43.48	10	DEL	0.000	-
MAPRE3	22924	genome.wustl.edu	37	2	27248767	27248767	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:27248767C>T	ENST00000233121.2	+	6	842	c.644C>T	c.(643-645)aCa>aTa	p.T215I	MAPRE3_ENST00000402218.1_Missense_Mutation_p.T200I|MAPRE3_ENST00000405074.3_Missense_Mutation_p.T200I			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	215	EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.				mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAAGCTGACAGTGGATGGG	0.547																																						dbGAP											0													99.0	90.0	93.0					2																	27248767		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.644C>T	2.37:g.27248767C>T	ENSP00000233121:p.Thr215Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Missense_Mutation	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.T215I	ENST00000233121.2	37	c.644	CCDS1731.1	2	.	.	.	.	.	.	.	.	.	.	c	17.09	3.300306	0.60195	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000458529;ENST00000402218	T;T;T;T	0.48522	0.82;0.81;0.83;0.81	5.54	5.54	0.83059	EB1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.88105	2.93	0.54753	D	0.999984	P;P	0.42409	0.779;0.672	B;B	0.39027	0.288;0.212	T	0.70117	-0.4960	10	0.87932	D	0	-13.1177	18.2609	0.90035	0.0:1.0:0.0:0.0	.	200;215	Q9UPY8-2;Q9UPY8	.;MARE3_HUMAN	I	215;200;215;200	ENSP00000233121:T215I;ENSP00000383915:T200I;ENSP00000391705:T215I;ENSP00000385715:T200I	ENSP00000233121:T215I	T	+	2	0	MAPRE3	27102271	1.000000	0.71417	0.869000	0.34112	0.892000	0.51952	4.914000	0.63348	2.603000	0.88011	0.556000	0.70494	ACA	MAPRE3	-	NULL	ENSG00000084764		0.547	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE3	HGNC	protein_coding	OTTHUMT00000214183.1	137	0.00	0	C	NM_012326		27248767	27248767	+1	no_errors	ENST00000233121	ensembl	human	known	69_37n	missense	72	40.50	49	SNP	0.990	T
MATN2	4147	genome.wustl.edu	37	8	99019348	99019348	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:99019348C>T	ENST00000520016.1	+	8	1467	c.1343C>T	c.(1342-1344)gCa>gTa	p.A448V	MATN2_ENST00000521689.1_Missense_Mutation_p.A448V|MATN2_ENST00000522025.2_Missense_Mutation_p.A164V|MATN2_ENST00000524308.1_Missense_Mutation_p.A407V|MATN2_ENST00000254898.5_Missense_Mutation_p.A448V			O00339	MATN2_HUMAN	matrilin 2	448	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACCACTGTGCACAGCAGGAC	0.547																																						dbGAP											0													58.0	60.0	59.0					8																	99019348		2062	4222	6284	-	-	-	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1343C>T	8.37:g.99019348C>T	ENSP00000430487:p.Ala448Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.A448V	ENST00000520016.1	37	c.1343	CCDS55264.1	8	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002804	0.74932	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016;ENST00000522270	D;T;D;D;T;D	0.96587	-1.77;-0.93;-1.79;-2.21;-0.91;-4.06	5.65	5.65	0.86999	Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.64402	D	0.000015	D	0.97176	0.9077	L	0.46157	1.445	0.40632	D	0.981866	D;D;D	0.76494	0.999;0.999;0.987	D;D;D	0.75484	0.986;0.976;0.964	D	0.97959	1.0336	10	0.66056	D	0.02	-19.5277	16.6412	0.85127	0.0:1.0:0.0:0.0	.	448;448;448	E9PF03;O00339-2;O00339	.;.;MATN2_HUMAN	V	448;448;407;407;164;448;152	ENSP00000429977:A448V;ENSP00000254898:A448V;ENSP00000430221:A407V;ENSP00000429010:A164V;ENSP00000430487:A448V;ENSP00000429825:A152V	ENSP00000254898:A448V	A	+	2	0	MATN2	99088524	0.980000	0.34600	0.967000	0.41034	0.997000	0.91878	2.533000	0.45667	2.659000	0.90383	0.655000	0.94253	GCA	MATN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000132561		0.547	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	32	0.00	0	C			99019348	99019348	+1	no_errors	ENST00000254898	ensembl	human	known	69_37n	missense	19	45.71	16	SNP	0.979	T
MBTD1	54799	genome.wustl.edu	37	17	49280166	49280166	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:49280166T>C	ENST00000586178.1	-	10	1302	c.959A>G	c.(958-960)gAa>gGa	p.E320G	MBTD1_ENST00000376381.2_Missense_Mutation_p.E320G|MBTD1_ENST00000415868.1_Missense_Mutation_p.E320G	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	320					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTCGCTTTCTTCATACACTAG	0.423																																						dbGAP											0													362.0	318.0	333.0					17																	49280166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.959A>G	17.37:g.49280166T>C	ENSP00000468304:p.Glu320Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.E320G	ENST00000586178.1	37	c.959	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	t	11.52	1.662542	0.29515	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.33654	1.4;1.4	5.04	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	M	0.78049	2.395	0.53688	D	0.999976	D;D;P	0.64830	0.964;0.994;0.648	P;D;B	0.64237	0.732;0.923;0.322	T	0.51687	-0.8674	10	0.26408	T	0.33	.	10.5766	0.45231	0.0:0.0766:0.0:0.9234	.	320;320;156	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	G	320	ENSP00000403946:E320G;ENSP00000365561:E320G	ENSP00000365561:E320G	E	-	2	0	MBTD1	46635165	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	6.287000	0.72671	0.781000	0.33589	-0.262000	0.10625	GAA	MBTD1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000011258		0.423	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	133	0.00	0	T			49280166	49280166	-1	no_errors	ENST00000415868	ensembl	human	known	69_37n	missense	81	42.55	60	SNP	1.000	C
MCM10	55388	genome.wustl.edu	37	10	13213138	13213138	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:13213138C>T	ENST00000484800.2	+	3	327	c.224C>T	c.(223-225)gCc>gTc	p.A75V	MCM10_ENST00000378714.3_Missense_Mutation_p.A75V|MCM10_ENST00000378694.1_Missense_Mutation_p.A75V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	75	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.A75V(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GAAAATCTGGCCACTCTCTTT	0.488																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											101.0	100.0	100.0					10																	13213138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.224C>T	10.37:g.13213138C>T	ENSP00000418268:p.Ala75Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.A75V	ENST00000484800.2	37	c.224	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146650	0.57151	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.15834	2.4;2.4;2.39	5.91	4.03	0.46877	.	0.281705	0.40640	N	0.001051	T	0.24736	0.0600	M	0.62723	1.935	0.35079	D	0.763253	P;P;P	0.49185	0.92;0.908;0.851	B;P;B	0.45753	0.441;0.492;0.297	T	0.40232	-0.9574	10	0.62326	D	0.03	-13.593	14.249	0.66007	0.4112:0.5888:0.0:0.0	.	75;75;75	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	V	75	ENSP00000367986:A75V;ENSP00000418268:A75V;ENSP00000367966:A75V	ENSP00000354945:A75V	A	+	2	0	MCM10	13253144	0.934000	0.31675	0.620000	0.29132	0.688000	0.40055	1.885000	0.39678	0.802000	0.34089	0.655000	0.94253	GCC	MCM10	-	NULL	ENSG00000065328		0.488	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	390	0.00	0	C	NM_182751		13213138	13213138	+1	no_errors	ENST00000361282	ensembl	human	known	69_37n	missense	268	41.23	188	SNP	0.946	T
MCM5	4174	genome.wustl.edu	37	22	35812638	35812638	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:35812638T>C	ENST00000216122.4	+	12	1575	c.1421T>C	c.(1420-1422)aTc>aCc	p.I474T	MCM5_ENST00000382011.5_Missense_Mutation_p.I431T|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	474	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TAGGCTGGGATCACCACCACC	0.552																																						dbGAP											0													84.0	69.0	74.0					22																	35812638		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1421T>C	22.37:g.35812638T>C	ENSP00000216122:p.Ile474Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	p.I474T	ENST00000216122.4	37	c.1421	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103026	0.76983	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.15372	2.43;2.43	5.77	5.77	0.91146	.	0.047096	0.85682	D	0.000000	T	0.61776	0.2374	H	0.99090	4.425	0.80722	D	1	P;P;P;P	0.50710	0.938;0.938;0.938;0.938	D;D;D;D	0.65684	0.937;0.937;0.937;0.937	T	0.78991	-0.1985	10	0.87932	D	0	-23.4841	16.1536	0.81640	0.0:0.0:0.0:1.0	.	474;474;431;474	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	T	474;431	ENSP00000216122:I474T;ENSP00000371441:I431T	ENSP00000216122:I474T	I	+	2	0	MCM5	34142638	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	7.850000	0.86915	2.214000	0.71695	0.529000	0.55759	ATC	MCM5	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	ENSG00000100297		0.552	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	44	0.00	0	T			35812638	35812638	+1	no_errors	ENST00000216122	ensembl	human	known	69_37n	missense	45	51.09	47	SNP	1.000	C
MCOLN3	55283	genome.wustl.edu	37	1	85487858	85487858	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:85487858A>G	ENST00000370589.2	-	11	1267	c.1215T>C	c.(1213-1215)ctT>ctC	p.L405L	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Silent_p.L349L	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	405					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GCGCTGCCTGAAGGGTCAAAA	0.473																																						dbGAP											0													82.0	80.0	81.0					1																	85487858		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1215T>C	1.37:g.85487858A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	pfam_PKD1_2_channel	p.L405	ENST00000370589.2	37	c.1215	CCDS701.1	1																																																																																			MCOLN3	-	pfam_PKD1_2_channel	ENSG00000055732		0.473	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	90	0.00	0	A	NM_018298		85487858	85487858	-1	no_errors	ENST00000302814	ensembl	human	known	69_37n	silent	47	38.16	29	SNP	0.888	G
MCPH1	79648	genome.wustl.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	dbGAP											0													83.0	81.0	82.0					8																	6289099		1811	4070	5881	-	-	-	SO:0001589	frameshift_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.K107fs	ENST00000344683.5	37	c.313	CCDS43689.1	8																																																																																			MCPH1	-	NULL	ENSG00000147316		0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	281	0.00	0	A	NM_024596		6289099	6289099	+1	no_errors	ENST00000344683	ensembl	human	known	69_37n	frame_shift_del	175	35.02	97	DEL	0.022	-
MCPH1	79648	genome.wustl.edu	37	8	6335115	6335115	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:6335115C>T	ENST00000344683.5	+	10	2012	c.1936C>T	c.(1936-1938)Cca>Tca	p.P646S		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	646	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAATCTCTAGCCAACAAGAAC	0.289																																					Colon(95;1448 1467 8277 34473 35819)	dbGAP											0													202.0	184.0	189.0					8																	6335115		1819	4077	5896	-	-	-	SO:0001630	splice_region_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1936-1C>T	8.37:g.6335115C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.P646S	ENST00000344683.5	37	c.1936	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957581	0.34565	.	.	ENSG00000147316	ENST00000344683	T	0.20332	2.08	4.92	4.92	0.64577	BRCT (1);	0.359631	0.32287	N	0.006317	T	0.31263	0.0791	M	0.74546	2.27	0.80722	D	1	D	0.58268	0.982	P	0.46419	0.516	T	0.10359	-1.0633	9	.	.	.	-20.0709	13.9641	0.64199	0.0:1.0:0.0:0.0	.	646	Q8NEM0	MCPH1_HUMAN	S	646	ENSP00000342924:P646S	.	P	+	1	0	MCPH1	6322523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.912000	0.39946	2.430000	0.82344	0.655000	0.94253	CCA	MCPH1	-	smart_BRCT_dom	ENSG00000147316		0.289	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	201	0.00	0	C	NM_024596	Missense_Mutation	6335115	6335115	+1	no_errors	ENST00000344683	ensembl	human	known	69_37n	missense	113	32.34	54	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90398377	90398377	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:90398377C>T	ENST00000369393.3	-	66	11289	c.11174G>A	c.(11173-11175)cGg>cAg	p.R3725Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R3725Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3725					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGACACTGCCGTGCTTCTGG	0.537																																						dbGAP											0													90.0	76.0	81.0					6																	90398377		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11174G>A	6.37:g.90398377C>T	ENSP00000358400:p.Arg3725Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R3725Q	ENST00000369393.3	37	c.11174	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980737	0.18812	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03358	3.96;3.96	5.44	2.64	0.31445	.	0.225627	0.36972	N	0.002315	T	0.00754	0.0025	L	0.31664	0.95	0.30850	N	0.734699	B	0.23316	0.083	B	0.13407	0.009	T	0.49331	-0.8951	10	0.12103	T	0.63	.	5.6695	0.17715	0.1375:0.6562:0.0:0.2063	.	3725	Q9NU22	MDN1_HUMAN	Q	3725	ENSP00000358400:R3725Q;ENSP00000413970:R3725Q	ENSP00000358400:R3725Q	R	-	2	0	MDN1	90455098	0.692000	0.27719	0.396000	0.26296	0.250000	0.25880	1.275000	0.33144	0.240000	0.21263	0.305000	0.20034	CGG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.537	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	55	0.00	0	C			90398377	90398377	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	31	34.04	16	SNP	0.984	T
ME3	10873	genome.wustl.edu	37	11	86158119	86158119	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:86158119G>A	ENST00000393324.3	-	11	1621	c.1368C>T	c.(1366-1368)taC>taT	p.Y456Y	ME3_ENST00000543262.1_Silent_p.Y456Y|ME3_ENST00000359636.2_Silent_p.Y456Y|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	456					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CGGTGACCCGGTAGCACTTCT	0.557																																						dbGAP											0													64.0	56.0	58.0					11																	86158119		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1368C>T	11.37:g.86158119G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6V0|Q8TBJ0	Silent	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.Y456	ENST00000393324.3	37	c.1368	CCDS8277.1	11																																																																																			ME3	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000151376		0.557	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME3	HGNC	protein_coding	OTTHUMT00000393767.2	38	0.00	0	G			86158119	86158119	-1	no_errors	ENST00000359636	ensembl	human	known	69_37n	silent	27	35.71	15	SNP	1.000	A
MED13L	23389	genome.wustl.edu	37	12	116675500	116675500	+	Missense_Mutation	SNP	G	G	A	rs563883392	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:116675500G>A	ENST00000281928.3	-	2	289	c.83C>T	c.(82-84)aCg>aTg	p.T28M	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	28						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTGATTCCCGTGAGTTCAGC	0.403													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17088	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													78.0	77.0	77.0					12																	116675500		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.83C>T	12.37:g.116675500G>A	ENSP00000281928:p.Thr28Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.T28M	ENST00000281928.3	37	c.83	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882052	0.72294	.	.	ENSG00000123066	ENST00000281928;ENST00000548743	T;T	0.79033	-1.23;-1.23	5.07	5.07	0.68467	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.56097	D	0.000024	D	0.88142	0.6357	M	0.75447	2.3	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.89324	0.3642	10	0.66056	D	0.02	.	18.4543	0.90714	0.0:0.0:1.0:0.0	.	28	Q71F56	MD13L_HUMAN	M	28;18	ENSP00000281928:T28M;ENSP00000448553:T18M	ENSP00000281928:T28M	T	-	2	0	MED13L	115159883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.352000	0.79861	0.561000	0.74099	ACG	MED13L	-	pfam_Mediator_Med13_N_met/fun	ENSG00000123066		0.403	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	143	0.69	1	G			116675500	116675500	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	missense	36	60.00	54	SNP	1.000	A
MEP1A	4224	genome.wustl.edu	37	6	46801060	46801060	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:46801060A>G	ENST00000230588.4	+	11	1403	c.1394A>G	c.(1393-1395)tAt>tGt	p.Y465C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	465	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCGGAGGGATATGGTTTTGGG	0.493																																						dbGAP											0													78.0	80.0	79.0					6																	46801060		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1394A>G	6.37:g.46801060A>G	ENSP00000230588:p.Tyr465Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.Y465C	ENST00000230588.4	37	c.1394	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	A	15.08	2.727078	0.48833	.	.	ENSG00000112818	ENST00000230588	T	0.53640	0.61	5.72	5.72	0.89469	TRAF-type (1);TRAF-like (1);MATH (3);	0.054293	0.85682	D	0.000000	T	0.72676	0.3490	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81333	-0.0980	10	0.87932	D	0	-22.3683	15.9995	0.80280	1.0:0.0:0.0:0.0	.	493;465	B7ZL91;Q16819	.;MEP1A_HUMAN	C	465	ENSP00000230588:Y465C	ENSP00000230588:Y465C	Y	+	2	0	MEP1A	46909019	1.000000	0.71417	0.367000	0.25926	0.082000	0.17680	9.339000	0.96797	2.186000	0.69663	0.528000	0.53228	TAT	MEP1A	-	pirsf_Pept_M12A_Meprin,pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000112818		0.493	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	268	0.00	0	A	NM_005588		46801060	46801060	+1	no_errors	ENST00000230588	ensembl	human	known	69_37n	missense	117	45.33	97	SNP	0.998	G
METTL18	92342	genome.wustl.edu	37	1	169762215	169762215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:169762215C>A	ENST00000310392.4	-	2	975	c.622G>T	c.(622-624)Gga>Tga	p.G208*	C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000456684.1_5'Flank|METTL18_ENST00000303469.2_Nonsense_Mutation_p.G208*|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000286031.6_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	208						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						TTGGACCCTCCCTTGAATGCA	0.388																																						dbGAP											0													133.0	138.0	136.0					1																	169762215		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.622G>T	1.37:g.169762215C>A	ENSP00000307975:p.Gly208*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9T5	Nonsense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.G208*	ENST00000310392.4	37	c.622	CCDS1284.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.077205	0.94000	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	.	.	.	5.96	3.02	0.34903	.	0.133576	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-0.2017	5.5702	0.17192	0.0:0.6144:0.1414:0.2442	.	.	.	.	X	208	.	ENSP00000307077:G208X	G	-	1	0	METTL18	168028839	0.779000	0.28652	0.498000	0.27564	0.848000	0.48234	0.038000	0.13862	0.372000	0.24591	-0.137000	0.14449	GGA	METTL18	-	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	ENSG00000171806		0.388	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL18	HGNC	protein_coding	OTTHUMT00000087109.1	409	0.00	0	C	NM_033418		169762215	169762215	-1	no_errors	ENST00000303469	ensembl	human	known	69_37n	nonsense	401	25.56	138	SNP	0.999	A
MFSD10	10227	genome.wustl.edu	37	4	2934332	2934332	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:2934332C>A	ENST00000329687.4	-	4	1060	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000508221.1_Missense_Mutation_p.G176C|MFSD10_ENST00000507555.1_Missense_Mutation_p.G176C|NOP14-AS1_ENST00000512712.2_RNA|MFSD10_ENST00000514800.1_Missense_Mutation_p.G176C|MFSD10_ENST00000355443.4_Missense_Mutation_p.G176C|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507999.1_RNA	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	176					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTACCATGCCTTGACTGCGG	0.632																																						dbGAP											0													83.0	94.0	90.0					4																	2934332		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"""tetracycline transporter like protein"""	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.526G>T	4.37:g.2934332C>A	ENSP00000332646:p.Gly176Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q07706	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G176C	ENST00000329687.4	37	c.526	CCDS3365.1	4	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659780	0.88154	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	4.7	4.7	0.59300	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.998;1.0	D	0.86155	0.1590	10	0.87932	D	0	-12.5651	16.4021	0.83644	0.0:1.0:0.0:0.0	.	176;176;176;176	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	C	176	ENSP00000426907:G176C;ENSP00000347619:G176C;ENSP00000332646:G176C;ENSP00000425757:G176C;ENSP00000423402:G176C	ENSP00000332646:G176C	G	-	1	0	MFSD10	2904130	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.427000	0.80284	2.167000	0.68274	0.655000	0.94253	GGC	MFSD10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000109736		0.632	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD10	HGNC	protein_coding	OTTHUMT00000358072.2	45	0.00	0	C	NM_001120		2934332	2934332	-1	no_errors	ENST00000329687	ensembl	human	known	69_37n	missense	14	44.00	11	SNP	1.000	A
MFSD11	79157	genome.wustl.edu	37	17	74771156	74771156	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:74771156C>T	ENST00000588460.1	+	11	2994	c.952C>T	c.(952-954)Cac>Tac	p.H318Y	MFSD11_ENST00000355954.3_Missense_Mutation_p.H266Y|MFSD11_ENST00000593181.1_Missense_Mutation_p.H266Y|MFSD11_ENST00000336509.4_Missense_Mutation_p.H318Y|MFSD11_ENST00000590514.1_Missense_Mutation_p.H318Y|MFSD11_ENST00000586622.1_Missense_Mutation_p.H318Y|MFSD11_ENST00000590070.1_3'UTR	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	318						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CATCCTGGTGCACTTCATAGC	0.453																																						dbGAP											0													179.0	163.0	168.0					17																	74771156		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.952C>T	17.37:g.74771156C>T	ENSP00000464932:p.His318Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.H318Y	ENST00000588460.1	37	c.952	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028814	0.93518	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.80304	-1.36;-1.36	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90841	0.7123	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.979	D	0.91505	0.5222	10	0.87932	D	0	-20.1134	19.7945	0.96474	0.0:1.0:0.0:0.0	.	266;318	O43934-2;O43934	.;MFS11_HUMAN	Y	318;266	ENSP00000337240:H318Y;ENSP00000348225:H266Y	ENSP00000337240:H318Y	H	+	1	0	MFSD11	72282751	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.643000	0.83403	2.746000	0.94184	0.591000	0.81541	CAC	MFSD11	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000092931		0.453	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	251	0.00	0	C	NM_024311		74771156	74771156	+1	no_errors	ENST00000336509	ensembl	human	known	69_37n	missense	168	41.87	121	SNP	1.000	T
MFSD2B	388931	genome.wustl.edu	37	2	24246078	24246078	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:24246078G>A	ENST00000406420.3	+	11	1154	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	MFSD2B_ENST00000338315.4_Missense_Mutation_p.V380M	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	380					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTATCTGGCGTGAGCATTGC	0.597																																						dbGAP											0													225.0	219.0	221.0					2																	24246078		2188	4283	6471	-	-	-	SO:0001583	missense	0				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1138G>A	2.37:g.24246078G>A	ENSP00000385527:p.Val380Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC32	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.V380M	ENST00000406420.3	37	c.1138	CCDS46228.1	2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306894	0.60305	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	T;T	0.81415	-1.49;-1.49	5.35	-8.99	0.00751	Major facilitator superfamily domain, general substrate transporter (1);	0.698745	0.13985	N	0.349225	T	0.65186	0.2667	L	0.49350	1.555	0.21802	N	0.999531	B	0.34161	0.439	B	0.33521	0.165	T	0.54886	-0.8226	10	0.59425	D	0.04	0.0061	4.2194	0.10551	0.3593:0.3815:0.1794:0.0798	.	380	A6NFX1	MFS2B_HUMAN	M	380	ENSP00000385527:V380M;ENSP00000342501:V380M	ENSP00000342501:V380M	V	+	1	0	MFSD2B	24099582	0.000000	0.05858	0.377000	0.26055	0.987000	0.75469	-2.293000	0.01145	-2.083000	0.00867	-0.258000	0.10820	GTG	MFSD2B	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000205639		0.597	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MFSD2B	HGNC	protein_coding	OTTHUMT00000324307.1	68	0.00	0	G	NM_001080473		24246078	24246078	+1	no_errors	ENST00000338315	ensembl	human	known	69_37n	missense	58	43.14	44	SNP	0.007	A
MIA3	375056	genome.wustl.edu	37	1	222832963	222832963	+	Splice_Site	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:222832963G>T	ENST00000344922.5	+	21	4795		c.e21-1		MIA3_ENST00000344441.6_Splice_Site|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Splice_Site|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3						chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATCTTTTTCAGATCGCTACCC	0.338																																						dbGAP											0													77.0	69.0	71.0					1																	222832963		1809	4079	5888	-	-	-	SO:0001630	splice_region_variant	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4771-1G>T	1.37:g.222832963G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Splice_Site	SNP	-	e21-1	ENST00000344922.5	37	c.4771-1	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549813	0.45383	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7375	0.96212	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIA3	220899586	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.873000	0.69644	2.673000	0.90976	0.655000	0.94253	.	MIA3	-	-	ENSG00000154305		0.338	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	164	0.00	0	G	NM_198551	Intron	222832963	222832963	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	splice_site	162	30.77	72	SNP	1.000	T
MIR1269A	100302177	genome.wustl.edu	37	4	67142638	67142638	+	RNA	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:67142638G>A	ENST00000408636.1	+	0	97					NR_031673.1				microRNA 1269a																		ggcttccctggtctccagctt	0.512																																						dbGAP											0													17.0	20.0	19.0					4																	67142638		1554	3563	5117	-	-	-			0					4	2011-11-14	2011-11-14	2011-11-14	ENSG00000221563	ENSG00000221563		"""ncRNAs / Micro RNAs"""	35337	non-coding RNA	RNA, micro			"""microRNA 1269"""	MIRN1269, MIR1269			Standard	NR_031673		Approved	hsa-mir-1269					4.37:g.67142638G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000408636.1	37	NULL		4																																																																																			MIR1269A	-	-	ENSG00000221563		0.512	MIR1269A-201	KNOWN	basic	miRNA	MIR1269A	HGNC	miRNA		125	0.00	0	G	NR_031673		67142638	67142638	+1	no_errors	ENST00000408636	ensembl	human	known	69_37n	rna	77	52.47	85	SNP	0.000	A
MIR548I1	100302204	genome.wustl.edu	37	3	125509316	125509316	+	lincRNA	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:125509316delT	ENST00000610060.1	+	0	194				MIR548I1_ENST00000408810.1_RNA																							ataattgctatttttgccatt	0.403																																						dbGAP											0													52.0	58.0	56.0					3																	125509316		876	1989	2865	-	-	-			0																															3.37:g.125509316delT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000610060.1	37	NULL		3																																																																																			MIR548I1	-	-	ENSG00000221737		0.403	RP11-379B18.6-001	KNOWN	basic	lincRNA	MIR548I1	HGNC	lincRNA	OTTHUMT00000471880.1	250	0.40	1	T			125509316	125509316	-1	no_errors	ENST00000408810	ensembl	human	known	69_37n	rna	217	32.51	105	DEL	0.028	-
MKI67	4288	genome.wustl.edu	37	10	129905264	129905264	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:129905264C>T	ENST00000368654.3	-	13	5215	c.4840G>A	c.(4840-4842)Gcc>Acc	p.A1614T	MKI67_ENST00000368653.3_Missense_Mutation_p.A1254T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1614	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATTTGCAGGCTACTTTGGCA	0.507																																						dbGAP											0													202.0	197.0	199.0					10																	129905264		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4840G>A	10.37:g.129905264C>T	ENSP00000357643:p.Ala1614Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A1614T	ENST00000368654.3	37	c.4840	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626467	0.28978	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02258	4.37;4.37	2.75	-1.76	0.08006	.	1.795210	0.03312	N	0.190630	T	0.02494	0.0076	N	0.14661	0.345	0.09310	N	1	B;D;P	0.69078	0.201;0.997;0.906	B;P;P	0.56163	0.031;0.793;0.523	T	0.39187	-0.9626	10	0.13108	T	0.6	.	1.1521	0.01788	0.2294:0.3396:0.2735:0.1574	.	1613;1254;1614	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	T	1614;1254;1613	ENSP00000357643:A1614T;ENSP00000357642:A1254T	ENSP00000357642:A1254T	A	-	1	0	MKI67	129795254	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.973000	0.03798	-0.394000	0.07727	-0.344000	0.07964	GCC	MKI67	-	pfam_K167R	ENSG00000148773		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	462	0.00	0	C	NM_002417		129905264	129905264	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	338	41.95	245	SNP	0.000	T
MKL1	57591	genome.wustl.edu	37	22	40817001	40817001	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:40817001G>A	ENST00000355630.3	-	10	1321	c.731C>T	c.(730-732)cCg>cTg	p.P244L	MKL1_ENST00000396617.3_Missense_Mutation_p.P244L|MKL1_ENST00000407029.1_Missense_Mutation_p.P244L|MKL1_ENST00000402042.1_Missense_Mutation_p.P194L	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	244	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTTCTGGTCCGGGGGGATGTA	0.587			T	RBM15	acute megakaryocytic leukemia																																	dbGAP		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													109.0	96.0	101.0					22																	40817001		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.731C>T	22.37:g.40817001G>A	ENSP00000347847:p.Pro244Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.P244L	ENST00000355630.3	37	c.731	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.120402	0.94385	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.74209	-0.74;-0.82;-0.28;-0.74	5.26	5.26	0.73747	.	0.056799	0.64402	D	0.000001	D	0.86969	0.6061	M	0.79614	2.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.88474	0.3064	10	0.87932	D	0	-35.3297	18.8656	0.92290	0.0:0.0:1.0:0.0	.	194;244;244	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	L	244;244;194;244	ENSP00000347847:P244L;ENSP00000379861:P244L;ENSP00000385584:P194L;ENSP00000385835:P244L	ENSP00000347847:P244L	P	-	2	0	MKL1	39146947	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.808000	0.99193	2.464000	0.83262	0.462000	0.41574	CCG	MKL1	-	NULL	ENSG00000196588		0.587	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKL1	HGNC	protein_coding	OTTHUMT00000321522.1	26	0.00	0	G	NM_020831		40817001	40817001	-1	no_errors	ENST00000355630	ensembl	human	known	69_37n	missense	13	58.06	18	SNP	1.000	A
MKL2	57496	genome.wustl.edu	37	16	14340481	14340481	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:14340481T>C	ENST00000341243.5	+	10	1331	c.1331T>C	c.(1330-1332)gTc>gCc	p.V444A	MKL2_ENST00000571589.1_Missense_Mutation_p.V455A|MKL2_ENST00000318282.5_Missense_Mutation_p.V455A|MKL2_ENST00000574045.1_Missense_Mutation_p.V455A			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	444					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGCCATTGTCACCAGTAAC	0.532																																						dbGAP											0													156.0	134.0	141.0					16																	14340481		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1331T>C	16.37:g.14340481T>C	ENSP00000345841:p.Val444Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.V444A	ENST00000341243.5	37	c.1331		16	.	.	.	.	.	.	.	.	.	.	T	5.385	0.256246	0.10185	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.75	5.75	0.90469	.	0.340590	0.30060	N	0.010502	T	0.24044	0.0582	L	0.28115	0.83	0.29171	N	0.877121	B;B	0.17268	0.001;0.021	B;B	0.15484	0.0;0.013	T	0.27905	-1.0060	9	0.06625	T	0.88	-20.749	6.8445	0.23980	0.0:0.165:0.0:0.835	.	455;455	B4DGT8;Q9ULH7-4	.;.	A	455;444	.	ENSP00000339086:V455A	V	+	2	0	MKL2	14247982	0.870000	0.30015	0.933000	0.37362	0.447000	0.32167	1.331000	0.33793	2.190000	0.69967	0.533000	0.62120	GTC	MKL2	-	NULL	ENSG00000186260		0.532	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		166	0.00	0	T	NM_014048		14340481	14340481	+1	no_errors	ENST00000341243	ensembl	human	known	69_37n	missense	127	35.86	71	SNP	0.996	C
MKNK1	8569	genome.wustl.edu	37	1	47046297	47046297	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:47046297T>C	ENST00000371946.4	-	4	302	c.139A>G	c.(139-141)Atg>Gtg	p.M47V	MKNK1_ENST00000545730.1_Missense_Mutation_p.M47V|MKNK1_ENST00000341183.5_Missense_Mutation_p.M47V|MKNK1_ENST00000371944.4_De_novo_Start_InFrame|MKNK1_ENST00000371945.4_Missense_Mutation_p.M47V|MKNK1_ENST00000428112.2_Missense_Mutation_p.M47V|MKNK1_ENST00000465783.1_Missense_Mutation_p.M47V	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	47					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					AGCTTGTACATATCTAGAGGT	0.478																																						dbGAP											0													101.0	85.0	91.0					1																	47046297		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.139A>G	1.37:g.47046297T>C	ENSP00000361014:p.Met47Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Missense_Mutation	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	p.M47V	ENST00000371946.4	37	c.139	CCDS538.1	1	.	.	.	.	.	.	.	.	.	.	T	6.455	0.452009	0.12283	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000341183;ENST00000428112;ENST00000532783;ENST00000496619;ENST00000528237;ENST00000545730;ENST00000529170;ENST00000531769;ENST00000465783;ENST00000532110	T;T;T;T;T;T;T;T;T;T;T;T	0.70282	0.0;-0.4;-0.47;-0.47;-0.13;-0.14;0.17;3.34;1.7;1.7;3.34;1.65	5.49	-10.5	0.00291	Protein kinase-like domain (1);	0.732883	0.14546	N	0.312984	T	0.35248	0.0925	N	0.08118	0	0.23981	N	0.996273	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.31223	-0.9951	10	0.13853	T	0.58	-22.3118	7.3676	0.26783	0.1895:0.5802:0.0923:0.1379	.	47;47;47;47	B4E1V9;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.;.;.;MKNK1_HUMAN	V	47;47;47;47;35;47;41;47;47;47;47;117	ENSP00000361014:M47V;ENSP00000361013:M47V;ENSP00000339573:M47V;ENSP00000411135:M47V;ENSP00000431837:M35V;ENSP00000436709:M47V;ENSP00000432665:M41V;ENSP00000440974:M47V;ENSP00000435163:M47V;ENSP00000434021:M47V;ENSP00000434834:M47V;ENSP00000431985:M117V	ENSP00000339573:M47V	M	-	1	0	MKNK1	46818884	0.915000	0.31059	0.054000	0.19295	0.904000	0.53231	-0.133000	0.10451	-1.658000	0.01490	-0.242000	0.12053	ATG	MKNK1	-	superfamily_Kinase-like_dom	ENSG00000079277		0.478	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	HGNC	protein_coding	OTTHUMT00000021897.2	69	0.00	0	T	NM_003684		47046297	47046297	-1	no_errors	ENST00000371946	ensembl	human	known	69_37n	missense	43	40.28	29	SNP	0.641	C
MKNK2	2872	genome.wustl.edu	37	19	2046205	2046205	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:2046205T>A	ENST00000591601.1	-	4	354	c.319A>T	c.(319-321)Agc>Tgc	p.S107C	MKNK2_ENST00000250896.3_Missense_Mutation_p.S107C|MKNK2_ENST00000541165.1_Intron|MKNK2_ENST00000309340.7_Missense_Mutation_p.S107C			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACTCCTGGCTGGTGATCAGG	0.677																																						dbGAP											0													75.0	82.0	79.0					19																	2046205		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.319A>T	19.37:g.2046205T>A	ENSP00000467811:p.Ser107Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S107C	ENST00000591601.1	37	c.319	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691494	0.48097	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000545627	T;T	0.41400	1.0;1.0	4.2	3.18	0.36537	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.153474	0.56097	D	0.000032	T	0.29423	0.0733	L	0.29908	0.895	0.80722	D	1	B;B	0.12013	0.0;0.005	B;B	0.15052	0.003;0.012	T	0.09930	-1.0652	10	0.72032	D	0.01	-7.7751	8.4228	0.32712	0.0:0.0957:0.0:0.9043	.	107;107	Q9HBH9;Q9HBH9-2	MKNK2_HUMAN;.	C	107;107;60	ENSP00000309485:S107C;ENSP00000250896:S107C	ENSP00000250896:S107C	S	-	1	0	MKNK2	1997205	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	2.995000	0.49441	0.769000	0.33313	0.397000	0.26171	AGC	MKNK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000099875		0.677	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	21	0.00	0	T	NM_199054		2046205	2046205	-1	no_errors	ENST00000250896	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	1.000	A
MKRN3	7681	genome.wustl.edu	37	15	23811404	23811405	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:23811404_23811405insC	ENST00000314520.3	+	1	951_952	c.475_476insC	c.(475-477)gccfs	p.A159fs	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	159					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGTGGCGGAAGCCCCCCCGGCT	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.482dupC	15.37:g.23811411_23811411dupC	ENSP00000313881:p.Ala159fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.A162fs	ENST00000314520.3	37	c.475_476	CCDS10013.1	15																																																																																			MKRN3	-	NULL	ENSG00000179455		0.644	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	41	0.00	0	-	NM_005664		23811404	23811405	+1	no_errors	ENST00000314520	ensembl	human	known	69_37n	frame_shift_ins	35	31.37	16	INS	0.960:0.962	C
MLH1	4292	genome.wustl.edu	37	3	37092142	37092142	+	Nonstop_Mutation	SNP	T	T	A	rs587778995		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:37092142T>A	ENST00000231790.2	+	19	2485	c.2269T>A	c.(2269-2271)Taa>Aaa	p.*757K	MLH1_ENST00000435176.1_Nonstop_Mutation_p.*659K|MLH1_ENST00000536378.1_Intron|MLH1_ENST00000458205.2_Nonstop_Mutation_p.*516K|MLH1_ENST00000455445.2_Nonstop_Mutation_p.*516K|MLH1_ENST00000539477.1_Nonstop_Mutation_p.*516K	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	0					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGAGAGGTGTTAAATATGGTT	0.383		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	1	Whole gene deletion(1)	ovary(1)	GRCh37	CI941890|CI994674	MLH1	I							130.0	134.0	132.0					3																	37092142		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.2269T>A	3.37:g.37092142T>A	ENSP00000231790:p.*757Lysext*36	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI13|B4DQ11|E9PCU2	Nonstop_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	p.*757K	ENST00000231790.2	37	c.2269	CCDS2663.1	3	.	.	.	.	.	.	.	.	.	.	T	29.1	4.976195	0.92982	.	.	ENSG00000076242	ENST00000231790;ENST00000383761;ENST00000421440;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4922	0.75615	0.0:0.0:0.0:1.0	.	.	.	.	K	757;552;175;516;516;516;659	.	.	X	+	1	0	MLH1	37067146	1.000000	0.71417	0.821000	0.32701	0.950000	0.60333	7.761000	0.85260	2.067000	0.61834	0.529000	0.55759	TAA	MLH1	-	NULL	ENSG00000076242		0.383	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	HGNC	protein_coding	OTTHUMT00000253337.2	210	0.00	0	T	NM_000249		37092142	37092142	+1	no_errors	ENST00000231790	ensembl	human	known	69_37n	nonstop	26	61.76	42	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151879634	151879634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:151879634G>A	ENST00000262189.6	-	36	5529	c.5311C>T	c.(5311-5313)Cag>Tag	p.Q1771*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1771*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1771	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCAAGTTTCTGTGTGGCTTCA	0.388																																						dbGAP											0													67.0	75.0	73.0					7																	151879634		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5311C>T	7.37:g.151879634G>A	ENSP00000262189:p.Gln1771*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1771*	ENST00000262189.6	37	c.5311	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	47	13.860578	0.99767	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.62	5.62	0.85841	.	0.000000	0.42821	D	0.000654	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	19.6554	0.95833	0.0:0.0:1.0:0.0	.	.	.	.	X	1771	.	ENSP00000262189:Q1771X	Q	-	1	0	MLL3	151510567	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	9.731000	0.98807	2.653000	0.90120	0.557000	0.71058	CAG	MLL3	-	NULL	ENSG00000055609		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	552	0.00	0	G			151879634	151879634	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	284	38.26	176	SNP	1.000	A
KMT2B	9757	genome.wustl.edu	37	19	36210764	36210764	+	Frame_Shift_Del	DEL	C	C	-	rs60207923	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:36210764delC	ENST00000222270.7	+	3	515	c.515delC	c.(514-516)accfs	p.T172fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Frame_Shift_Del_p.T172fs|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.T172fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	172			T -> I (in dbSNP:rs60207923).		chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGGCTCCTACCCCCCCAAAG	0.632																																						dbGAP											0													44.0	52.0	50.0					19																	36210764		1952	4133	6085	-	-	-	SO:0001589	frameshift_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.515delC	19.37:g.36210764delC	ENSP00000222270:p.Thr172fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P174fs	ENST00000222270.7	37	c.515	CCDS46055.1	19																																																																																			MLL4	-	pirsf_MeTrfase_trithorax	ENSG00000105663		0.632	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		48	0.00	0	C	NM_014727		36210764	36210764	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	frame_shift_del	39	40.91	27	DEL	0.976	-
MLPH	79083	genome.wustl.edu	37	2	238434429	238434429	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:238434429G>T	ENST00000264605.3	+	7	1155	c.861G>T	c.(859-861)ctG>ctT	p.L287L	MLPH_ENST00000445024.2_Silent_p.L287L|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Silent_p.L287L|MLPH_ENST00000409373.1_Silent_p.L247L|MLPH_ENST00000410032.1_Intron	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	287					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGATGGCCCTGGGGACTGCTG	0.667																																						dbGAP											0													29.0	30.0	29.0					2																	238434429		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.861G>T	2.37:g.238434429G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	pfam_Myelin-assoc_OBP	p.W94L	ENST00000264605.3	37	c.281	CCDS2518.1	2	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974815	0.34848	.	.	ENSG00000115648	ENST00000437893;ENST00000436965	T	0.28666	1.6	3.25	-0.838	0.10762	.	.	.	.	.	T	0.17704	0.0425	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27434	-1.0074	5	.	.	.	0.0013	2.9867	0.05970	0.3374:0.0:0.4588:0.2038	.	.	.	.	L	94;20	ENSP00000412438:W94L	.	W	+	2	0	MLPH	238099168	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.332000	0.07904	-0.187000	0.10516	0.563000	0.77884	TGG	MLPH	-	NULL	ENSG00000115648		0.667	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	31	0.00	0	G	NM_024101		238434429	238434429	+1	no_start_codon	ENST00000437893	ensembl	human	novel	69_37n	missense	20	47.37	18	SNP	0.000	T
MMP11	4320	genome.wustl.edu	37	22	24122654	24122654	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:24122654C>T	ENST00000215743.3	+	3	499	c.447C>T	c.(445-447)caC>caT	p.H149H	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	149					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CTGAGGTGCACGAGGGCCGTG	0.642																																						dbGAP											0													103.0	88.0	93.0					22																	24122654		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.447C>T	22.37:g.24122654C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.H149	ENST00000215743.3	37	c.447	CCDS13816.1	22																																																																																			MMP11	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000099953		0.642	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	30	0.00	0	C	NM_005940		24122654	24122654	+1	no_errors	ENST00000215743	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	0.192	T
MMP3	4314	genome.wustl.edu	37	11	102712947	102712947	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:102712947C>A	ENST00000299855.5	-	4	819	c.563G>T	c.(562-564)gGg>gTg	p.G188V		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	188					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	AATCCCTGGCCCAGGGGCATA	0.393																																						dbGAP											0													118.0	111.0	114.0					11																	102712947		2203	4299	6502	-	-	-	SO:0001583	missense	0			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.563G>T	11.37:g.102712947C>A	ENSP00000299855:p.Gly188Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.G188V	ENST00000299855.5	37	c.563	CCDS8323.1	11	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212768	0.58452	.	.	ENSG00000149968	ENST00000299855	T	0.25085	1.82	5.64	5.64	0.86602	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.49916	D	0.000130	T	0.58061	0.2096	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64976	-0.6280	10	0.87932	D	0	.	12.1703	0.54155	0.0:0.9235:0.0:0.0765	.	188	P08254	MMP3_HUMAN	V	188	ENSP00000299855:G188V	ENSP00000299855:G188V	G	-	2	0	MMP3	102218157	0.021000	0.18746	0.909000	0.35828	0.782000	0.44232	1.692000	0.37731	2.937000	0.99478	0.650000	0.86243	GGG	MMP3	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000149968		0.393	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	HGNC	protein_coding	OTTHUMT00000109758.2	106	0.00	0	C	NM_002422		102712947	102712947	-1	no_errors	ENST00000299855	ensembl	human	known	69_37n	missense	77	44.60	62	SNP	0.503	A
MN1	4330	genome.wustl.edu	37	22	28193536	28193536	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:28193536G>A	ENST00000302326.4	-	1	3950	c.2996C>T	c.(2995-2997)aCg>aTg	p.T999M		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	999					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TTCGTGGGGCGTCGGTGCCCC	0.736			T	ETV6	"""AML, meningioma"""																																	dbGAP		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													20.0	23.0	22.0					22																	28193536		1975	4131	6106	-	-	-	SO:0001583	missense	0			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2996C>T	22.37:g.28193536G>A	ENSP00000304956:p.Thr999Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1V9	Missense_Mutation	SNP	NULL	p.T999M	ENST00000302326.4	37	c.2996	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853938	0.51270	.	.	ENSG00000169184	ENST00000302326	T	0.59224	0.28	4.1	4.1	0.47936	.	0.067282	0.64402	D	0.000015	T	0.63117	0.2484	L	0.27053	0.805	0.37747	D	0.925829	D	0.89917	1.0	D	0.71414	0.973	T	0.68819	-0.5308	10	0.48119	T	0.1	-12.9338	15.0915	0.72198	0.0:0.0:1.0:0.0	.	999	Q10571	MN1_HUMAN	M	999	ENSP00000304956:T999M	ENSP00000304956:T999M	T	-	2	0	MN1	26523536	1.000000	0.71417	0.957000	0.39632	0.582000	0.36321	3.796000	0.55507	2.105000	0.64084	0.462000	0.41574	ACG	MN1	-	NULL	ENSG00000169184		0.736	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	26	0.00	0	G	NM_002430		28193536	28193536	-1	no_errors	ENST00000302326	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	0.966	A
MOCOS	55034	genome.wustl.edu	37	18	33793417	33793417	+	Missense_Mutation	SNP	G	G	A	rs375515480		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:33793417G>A	ENST00000261326.5	+	7	1328	c.1307G>A	c.(1306-1308)aGc>aAc	p.S436N		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGGGCATAAGCAACGAGATG	0.547																																						dbGAP											0													79.0	69.0	73.0					18																	33793417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1307G>A	18.37:g.33793417G>A	ENSP00000261326:p.Ser436Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.S436N	ENST00000261326.5	37	c.1307	CCDS11919.1	18	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264051	0.59431	.	.	ENSG00000075643	ENST00000261326	D	0.86562	-2.14	5.56	5.56	0.83823	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.041428	0.85682	D	0.000000	D	0.90321	0.6972	M	0.76328	2.33	0.36275	D	0.855427	P	0.47106	0.89	P	0.50754	0.649	D	0.93267	0.6648	10	0.62326	D	0.03	-17.0263	15.0208	0.71630	0.0:0.0:1.0:0.0	.	436	Q96EN8	MOCOS_HUMAN	N	436	ENSP00000261326:S436N	ENSP00000261326:S436N	S	+	2	0	MOCOS	32047415	1.000000	0.71417	0.972000	0.41901	0.417000	0.31264	7.133000	0.77259	2.619000	0.88677	0.555000	0.69702	AGC	MOCOS	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000075643		0.547	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	53	0.00	0	G			33793417	33793417	+1	no_errors	ENST00000261326	ensembl	human	known	69_37n	missense	10	65.52	19	SNP	1.000	A
MORN1	79906	genome.wustl.edu	37	1	2319697	2319697	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:2319697G>A	ENST00000378531.3	-	3	401	c.228C>T	c.(226-228)cgC>cgT	p.R76R	MORN1_ENST00000378529.3_Silent_p.R76R|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	76								p.R76R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CCCAGTGCCGGCGGCCTTCTC	0.552																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											120.0	114.0	116.0					1																	2319697		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.228C>T	1.37:g.2319697G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	NULL	p.A27V	ENST00000378531.3	37	c.80	CCDS40.1	1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433542	0.25813	.	.	ENSG00000116151	ENST00000449373	.	.	.	5.03	1.84	0.25277	.	.	.	.	.	T	0.36166	0.0957	.	.	.	0.41426	D	0.987832	B	0.28713	0.22	B	0.22880	0.042	T	0.31024	-0.9958	7	0.87932	D	0	.	2.8148	0.05453	0.1852:0.1496:0.5286:0.1367	.	27	Q5T088	.	V	27	.	ENSP00000390261:A27V	A	-	2	0	MORN1	2309557	0.669000	0.27502	0.398000	0.26321	0.879000	0.50718	0.662000	0.25038	0.529000	0.28599	0.561000	0.74099	GCC	MORN1	-	NULL	ENSG00000116151		0.552	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	36	0.00	0	G	NM_024848		2319697	2319697	-1	no_start_codon	ENST00000449373	ensembl	human	known	69_37n	missense	14	53.33	16	SNP	0.128	A
MRPL49	740	genome.wustl.edu	37	11	64893553	64893553	+	3'UTR	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:64893553G>A	ENST00000279242.2	+	0	729				MRPL49_ENST00000524482.1_3'UTR|MRPL49_ENST00000531705.1_Intron	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GACCAAATAGGGATCACCAGG	0.502																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608	ENST00000279242.2:c.*209G>A	11.37:g.64893553G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4G6	RNA	SNP	-	NULL	ENST00000279242.2	37	NULL	CCDS8096.1	11																																																																																			MRPL49	-	-	ENSG00000149792		0.502	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL49	HGNC	protein_coding	OTTHUMT00000385293.1	8	0.00	0	G	NM_004927		64893553	64893553	+1	no_errors	ENST00000524482	ensembl	human	known	69_37n	rna	9	40.00	6	SNP	0.000	A
MPZL2	10205	genome.wustl.edu	37	11	118133340	118133340	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:118133340G>T	ENST00000278937.2	-	3	377	c.249C>A	c.(247-249)ccC>ccA	p.P83P	MPZL2_ENST00000438295.2_Silent_p.P83P|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	83	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TGGGTTGGAAGGGATCTATGT	0.537																																						dbGAP											0													58.0	54.0	56.0					11																	118133340		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.249C>A	11.37:g.118133340G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R1	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.P83	ENST00000278937.2	37	c.249	CCDS8393.1	11																																																																																			MPZL2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000149573		0.537	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MPZL2	HGNC	protein_coding	OTTHUMT00000392113.1	98	0.00	0	G	NM_005797		118133340	118133340	-1	no_errors	ENST00000438295	ensembl	human	known	69_37n	silent	77	40.31	52	SNP	1.000	T
MRPL50	54534	genome.wustl.edu	37	9	104152860	104152860	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:104152860C>A	ENST00000374865.4	-	2	386	c.365G>T	c.(364-366)aGg>aTg	p.R122M	MRPL50_ENST00000539624.1_Splice_Site_p.R122M	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	122						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATCTCTAACCCTGCACATCTG	0.413																																						dbGAP											0													92.0	88.0	90.0					9																	104152860		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.365G>T	9.37:g.104152860C>A	ENSP00000363999:p.Arg122Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	pfam_Ribosomal_L50_mt	p.R122M	ENST00000374865.4	37	c.365	CCDS6753.1	9	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422975	0.62733	.	.	ENSG00000136897	ENST00000374865;ENST00000539624	T	0.43688	0.94	5.9	1.84	0.25277	.	0.323928	0.30565	N	0.009344	T	0.48447	0.1500	L	0.51422	1.61	0.33122	D	0.541935	D;D	0.69078	0.997;0.958	D;P	0.63113	0.911;0.579	T	0.57112	-0.7867	10	0.59425	D	0.04	-6.4514	5.3879	0.16227	0.0:0.6071:0.1442:0.2488	.	122;122	B7Z358;Q8N5N7	.;RM50_HUMAN	M	122	ENSP00000363999:R122M	ENSP00000363999:R122M	R	-	2	0	MRPL50	103192681	0.004000	0.15560	0.892000	0.35008	0.996000	0.88848	-0.369000	0.07533	0.069000	0.16605	0.563000	0.77884	AGG	MRPL50	-	pfam_Ribosomal_L50_mt	ENSG00000136897		0.413	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL50	HGNC	protein_coding	OTTHUMT00000053450.1	381	0.00	0	C	NM_019051		104152860	104152860	-1	no_errors	ENST00000374865	ensembl	human	known	69_37n	missense	174	38.95	111	SNP	0.899	A
MRPS18C	51023	genome.wustl.edu	37	4	84382173	84382173	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:84382173G>A	ENST00000295491.4	+	5	453	c.340G>A	c.(340-342)Gct>Act	p.A114T	FAM175A_ENST00000321945.7_3'UTR|MRPS18C_ENST00000507019.1_Missense_Mutation_p.A86T|MRPS18C_ENST00000507349.1_Silent_p.E66E	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	114					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				AATTAAGAGAGCTCAAATAAT	0.289																																						dbGAP											0													72.0	78.0	76.0					4																	84382173		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.340G>A	4.37:g.84382173G>A	ENSP00000295491:p.Ala114Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18	p.A114T	ENST00000295491.4	37	c.340	CCDS3604.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.27|18.27	3.586517|3.586517	0.66105|0.66105	.|.	.|.	ENSG00000163319|ENSG00000163319	ENST00000295491;ENST00000507019|ENST00000509970	.|.	.|.	.|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.057482|.	0.64402|.	D|.	0.000002|.	D|D	0.91085|0.91085	0.7194|0.7194	H|H	0.98901|0.98901	4.365|4.365	0.80722|0.80722	D|D	1|1	P|.	0.34934|.	0.476|.	B|.	0.37387|.	0.248|.	D|D	0.94620|0.94620	0.7812|0.7812	9|5	0.66056|.	D|.	0.02|.	-13.5233|-13.5233	18.5577|18.5577	0.91090|0.91090	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	114|.	Q9Y3D5|.	RT18C_HUMAN|.	T|N	114;86|84	.|.	ENSP00000295491:A114T|.	A|S	+|+	1|2	0|0	MRPS18C|MRPS18C	84601197|84601197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.781000|0.781000	0.44180|0.44180	6.040000|6.040000	0.70980|0.70980	2.608000|2.608000	0.88229|0.88229	0.591000|0.591000	0.81541|0.81541	GCT|AGC	MRPS18C	-	pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18	ENSG00000163319		0.289	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18C	HGNC	protein_coding	OTTHUMT00000252820.2	214	0.00	0	G			84382173	84382173	+1	no_errors	ENST00000295491	ensembl	human	known	69_37n	missense	115	38.50	72	SNP	1.000	A
MRPS31P5	100887750	genome.wustl.edu	37	13	52742532	52742532	+	RNA	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:52742532C>A	ENST00000451298.1	-	0	3107				MRPS31P5_ENST00000416599.1_RNA																							TATCAAAATCCTAGATTTGAA	0.308																																						dbGAP											0																																										-	-	-			0																															13.37:g.52742532C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			RP11-64P12.8	-	-	ENSG00000217576		0.308	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	MRPS31P3	Clone_based_vega_gene	processed_transcript	OTTHUMT00000471093.1	24	0.00	0	C			52742532	52742532	-1	no_errors	ENST00000416599	ensembl	human	known	69_37n	rna	12	58.62	17	SNP	0.374	A
MS4A14	84689	genome.wustl.edu	37	11	60184016	60184016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:60184016G>A	ENST00000300187.6	+	5	1852	c.1575G>A	c.(1573-1575)tgG>tgA	p.W525*	MS4A14_ENST00000395005.2_Nonsense_Mutation_p.W508*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.W558*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.W413*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	525	Gln-rich.					integral component of membrane (GO:0016021)		p.W525C(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GCAAAGGCTGGCAATCTCCAA	0.438																																						dbGAP											1	Substitution - Missense(1)	lung(1)											80.0	81.0	81.0					11																	60184016		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1575G>A	11.37:g.60184016G>A	ENSP00000300187:p.Trp525*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Nonsense_Mutation	SNP	pfam_CD20-like	p.W525*	ENST00000300187.6	37	c.1575	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	G	18.27	3.585988	0.66105	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	.	.	.	4.13	-4.94	0.03057	.	5.031520	0.00397	N	0.000052	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	5.2248	0.6622	0.00845	0.3618:0.1182:0.2683:0.2516	.	.	.	.	X	413;525;508;558	.	ENSP00000300187:W525X	W	+	3	0	MS4A14	59940592	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.512000	0.06313	-0.946000	0.03677	0.650000	0.86243	TGG	MS4A14	-	NULL	ENSG00000166928		0.438	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	294	0.00	0	G			60184016	60184016	+1	no_errors	ENST00000300187	ensembl	human	known	69_37n	nonsense	178	41.12	125	SNP	0.000	A
MS4A12	54860	genome.wustl.edu	37	11	60269505	60269505	+	Missense_Mutation	SNP	G	G	A	rs111546873		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:60269505G>A	ENST00000016913.4	+	4	521	c.464G>A	c.(463-465)cGt>cAt	p.R155H	MS4A12_ENST00000537076.1_Missense_Mutation_p.R109H	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	155						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GAGCTTTCCCGTTGTCTGGTA	0.393																																						dbGAP											0													213.0	204.0	207.0					11																	60269505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.464G>A	11.37:g.60269505G>A	ENSP00000016913:p.Arg155His	Somatic		WXS	Illumina GAIIx	Phase_IV	F5GX98|Q8N6L4	Missense_Mutation	SNP	pfam_CD20-like	p.R155H	ENST00000016913.4	37	c.464	CCDS7988.1	11	.	.	.	.	.	.	.	.	.	.	G	5.016	0.188599	0.09547	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.02606	4.23;4.23;4.23	5.21	-4.79	0.03200	.	2.546630	0.01192	N	0.007350	T	0.02380	0.0073	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.43686	-0.9376	10	0.48119	T	0.1	.	1.7804	0.03030	0.122:0.2279:0.3454:0.3047	.	155	Q9NXJ0	M4A12_HUMAN	H	109;109;155	ENSP00000440424:R109H;ENSP00000431959:R109H;ENSP00000016913:R155H	ENSP00000016913:R155H	R	+	2	0	MS4A12	60026081	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.895000	0.04118	-0.922000	0.03789	-0.758000	0.03466	CGT	MS4A12	-	pfam_CD20-like	ENSG00000071203		0.393	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A12	HGNC	protein_coding	OTTHUMT00000383627.1	372	0.00	0	G			60269505	60269505	+1	no_errors	ENST00000016913	ensembl	human	known	69_37n	missense	230	41.96	167	SNP	0.000	A
MSANTD4	84437	genome.wustl.edu	37	11	105880738	105880739	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:105880738_105880739insA	ENST00000301919.4	-	3	1976_1977	c.561_562insT	c.(559-564)tttaccfs	p.T188fs	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	188						nucleus (GO:0005634)											GAGTTAAGGGTAAAAAACTCAT	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.562dupT	11.37:g.105880744_105880744dupA	ENSP00000304713:p.Thr188fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JK1|Q96JZ3|Q9H2N4	Frame_Shift_Ins	INS	NULL	p.T187fs	ENST00000301919.4	37	c.562_561	CCDS31663.1	11																																																																																			MSANTD4	-	NULL	ENSG00000170903		0.396	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1	467	0.00	0	-	NM_032424		105880738	105880739	-1	no_errors	ENST00000301919	ensembl	human	known	69_37n	frame_shift_ins	224	36.36	128	INS	0.939:0.903	A
MSLNL	401827	genome.wustl.edu	37	16	830632	830632	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:830632G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.T123T			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGCACGTGTAGGTGACAGTGT	0.567																																						dbGAP											0													303.0	259.0	274.0					16																	830632		2192	4269	6461	-	-	-	SO:0001627	intron_variant	0					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-470C>T	16.37:g.830632G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Mesothelin	p.T123	ENST00000442466.1	37	c.369		16																																																																																			MSLNL	-	NULL	ENSG00000162006		0.567	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding		21	0.00	0	G	NM_001025190		830632	830632	-1	no_errors	ENST00000293892	ensembl	human	known	69_37n	silent	10	33.33	5	SNP	0.000	A
MTG1	92170	genome.wustl.edu	37	10	135216331	135216332	+	Intron	INS	-	-	A	rs61001086|rs150075790|rs553060234|rs34193468	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:135216331_135216332insA	ENST00000317502.6	+	9	802				RP11-108K14.8_ENST00000468317.2_Intron|MTG1_ENST00000477902.2_Intron	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		TCACCTCATTTAAAAAAAAAAA	0.465																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.752+54->A	10.37:g.135216342_135216342dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	RNA	INS	-	NULL	ENST00000317502.6	37	NULL	CCDS31320.1	10																																																																																			MTG1	-	-	ENSG00000148824		0.465	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MTG1	Clone_based_vega_gene	protein_coding	OTTHUMT00000051166.1	8	0.00	0	-	NM_138384		135216331	135216332	+1	no_errors	ENST00000492266	ensembl	human	known	69_37n	rna	11	47.62	10	INS	0.000:0.007	A
MUC4	4585	genome.wustl.edu	37	3	195516763	195516763	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:195516763G>A	ENST00000463781.3	-	2	2147	c.1688C>T	c.(1687-1689)gCc>gTc	p.A563V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A563V|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	568					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGTGTCTGGGCGCCTGCCCC	0.557																																						dbGAP											0													237.0	234.0	235.0					3																	195516763		1972	4130	6102	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1688C>T	3.37:g.195516763G>A	ENSP00000417498:p.Ala563Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.A563V	ENST00000463781.3	37	c.1688	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	4.178	0.031605	0.08101	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.49432	0.78;0.8	1.86	-0.036	0.13890	.	.	.	.	.	T	0.22589	0.0545	N	0.22421	0.69	0.09310	N	1	P;B	0.38110	0.618;0.347	B;B	0.25759	0.063;0.03	T	0.10019	-1.0648	9	0.27082	T	0.32	.	4.152	0.10242	0.3917:0.0:0.6083:0.0	.	563;568	E7ESK3;Q99102	.;MUC4_HUMAN	V	563;563;537	ENSP00000417498:A563V;ENSP00000420243:A563V	ENSP00000376209:A537V	A	-	2	0	MUC4	197001158	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	1.878000	0.39608	-0.015000	0.14150	-0.396000	0.06452	GCC	MUC4	-	NULL	ENSG00000145113		0.557	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	299	0.00	0	G	NM_018406		195516763	195516763	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	191	45.43	159	SNP	0.000	A
MUC5AC	4586	genome.wustl.edu	37	11	1213414	1213414	+	3'UTR	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:1213414C>A	ENST00000358378.6	+	0	655							P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CGAGAGCCACCCGGAGGTGAA	0.597																																						dbGAP											0													239.0	244.0	242.0					11																	1213414		875	1990	2865	-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000358378.6:c.*652C>A	11.37:g.1213414C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	RNA	SNP	-	NULL	ENST00000358378.6	37	NULL		11																																																																																			MUC5AC	-	-	ENSG00000215182		0.597	MUC5AC-002	PUTATIVE	basic|exp_conf	processed_transcript	MUC5AC	HGNC	protein_coding	OTTHUMT00000396096.2	38	0.00	0	C	XM_001130382		1213414	1213414	+1	no_errors	ENST00000358378	ensembl	human	putative	69_37n	rna	56	11.11	7	SNP	1.000	A
MUC5B	727897	genome.wustl.edu	37	11	1265962	1265962	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:1265962G>A	ENST00000529681.1	+	31	7910	c.7852G>A	c.(7852-7854)Gcc>Acc	p.A2618T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A2621T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2618	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGCTTCACAGCCACCCCCTC	0.647																																						dbGAP											0													133.0	166.0	155.0					11																	1265962		2104	4227	6331	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7852G>A	11.37:g.1265962G>A	ENSP00000436812:p.Ala2618Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A2621T	ENST00000529681.1	37	c.7861	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	5.983	0.365274	0.11352	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.20881	2.04;2.23	2.4	-4.79	0.03200	.	.	.	.	.	T	0.16471	0.0396	M	0.61703	1.905	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.15052	0.004;0.012	T	0.37407	-0.9707	9	0.87932	D	0	.	1.7594	0.02989	0.2633:0.2486:0.3694:0.1187	.	3256;2621	A7Y9J9;E9PBJ0	.;.	T	2618;2621;2590;2633;159	ENSP00000436812:A2618T;ENSP00000415793:A2621T	ENSP00000343037:A2590T	A	+	1	0	MUC5B	1222538	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.952000	0.00677	-1.367000	0.02152	0.205000	0.17691	GCC	MUC5B	-	NULL	ENSG00000117983		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	56	0.00	0	G	XM_001126093		1265962	1265962	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	45	43.04	34	SNP	0.000	A
MXRA5	25878	genome.wustl.edu	37	X	3242093	3242093	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:3242093T>C	ENST00000217939.6	-	5	1787	c.1633A>G	c.(1633-1635)Atg>Gtg	p.M545V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	545	Ig-like C2-type 1.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGGCTCCATGGACTTGATC	0.532																																						dbGAP											0													44.0	35.0	38.0					X																	3242093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1633A>G	X.37:g.3242093T>C	ENSP00000217939:p.Met545Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.M545V	ENST00000217939.6	37	c.1633	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.110076	0.00032	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.60424	0.19	3.63	-0.162	0.13367	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.833258	0.10011	U	0.727164	T	0.16300	0.0392	N	0.00109	-2.105	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31308	-0.9948	10	0.02654	T	1	.	12.3373	0.55075	0.0:0.8535:0.0:0.1465	.	545	Q9NR99	MXRA5_HUMAN	V	545	ENSP00000217939:M545V	ENSP00000217939:M545V	M	-	1	0	MXRA5	3252093	0.013000	0.17824	0.000000	0.03702	0.018000	0.09664	2.192000	0.42649	-0.478000	0.06823	0.352000	0.21897	ATG	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000101825		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	132	0.00	0	T	NM_015419		3242093	3242093	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	69	44.35	55	SNP	0.001	C
MYCBP2	23077	genome.wustl.edu	37	13	77655719	77655719	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:77655719G>A	ENST00000544440.2	-	65	11164	c.11147C>T	c.(11146-11148)cCt>cTt	p.P3716L	MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P3716L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.P3754L|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATCATGGCAGGTCGGCTTGA	0.368																																						dbGAP											0													134.0	125.0	128.0					13																	77655719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11147C>T	13.37:g.77655719G>A	ENSP00000444596:p.Pro3716Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.P3754L	ENST00000544440.2	37	c.11261		13	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158803	0.78226	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.63913	-0.07;-0.07;-0.07	5.44	5.44	0.79542	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.78952	-0.2001	10	0.72032	D	0.01	.	19.2446	0.93896	0.0:0.0:1.0:0.0	.	3716	O75592	MYCB2_HUMAN	L	3716;3754;3716	ENSP00000349892:P3716L;ENSP00000384288:P3754L;ENSP00000444596:P3716L	ENSP00000349892:P3716L	P	-	2	0	MYCBP2	76553720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.535000	0.85469	0.655000	0.94253	CCT	MYCBP2	-	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	ENSG00000005810		0.368	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	356	0.28	1	G	NM_015057		77655719	77655719	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	177	41.97	128	SNP	1.000	A
MYH11	4629	genome.wustl.edu	37	16	15835428	15835428	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:15835428C>T	ENST00000300036.5	-	22	2860	c.2751G>A	c.(2749-2751)aaG>aaA	p.K917K	AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000452625.2_Silent_p.K924K|MYH11_ENST00000576790.2_Silent_p.K917K|MYH11_ENST00000396324.3_Silent_p.K924K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	917					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGCTCCTGCTTCTTGGCCG	0.607			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													89.0	94.0	93.0					16																	15835428		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2751G>A	16.37:g.15835428C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K924	ENST00000300036.5	37	c.2772	CCDS10565.1	16																																																																																			MYH11	-	NULL	ENSG00000133392		0.607	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	156	0.00	0	C	NM_001040113		15835428	15835428	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	silent	155	44.84	126	SNP	1.000	T
MYH6	4624	genome.wustl.edu	37	14	23868034	23868035	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:23868034_23868035insT	ENST00000356287.3	-	14	1822_1823	c.1793_1794insA	c.(1792-1794)aacfs	p.N598fs	MYH6_ENST00000405093.3_Frame_Shift_Ins_p.N598fs			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	598	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GAGGATCCTTGTTTTTTTCCAG	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1794dupA	14.37:g.23868041_23868041dupT	ENSP00000348634:p.Asn598fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Frame_Shift_Ins	INS	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N598fs	ENST00000356287.3	37	c.1794_1793	CCDS9600.1	14																																																																																			MYH6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000197616		0.550	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	61	0.00	0	-			23868034	23868035	-1	no_errors	ENST00000356287	ensembl	human	known	69_37n	frame_shift_ins	33	32.65	16	INS	1.000:1.000	T
MYH7	4625	genome.wustl.edu	37	14	23887482	23887482	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:23887482G>A	ENST00000355349.3	-	30	4268	c.4106C>T	c.(4105-4107)gCc>gTc	p.A1369V	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1369					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCCACTGGGCCACCTCCGA	0.647																																						dbGAP											0													84.0	80.0	81.0					14																	23887482		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4106C>T	14.37:g.23887482G>A	ENSP00000347507:p.Ala1369Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1369V	ENST00000355349.3	37	c.4106	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.706078	0.96812	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79749	-1.3	4.83	4.83	0.62350	Myosin tail (1);	.	.	.	.	D	0.87649	0.6230	M	0.72576	2.205	0.80722	D	1	P	0.37824	0.609	P	0.55087	0.768	D	0.84736	0.0748	9	0.27082	T	0.32	.	18.1069	0.89523	0.0:0.0:1.0:0.0	.	1369	P12883	MYH7_HUMAN	V	1369;1374	ENSP00000347507:A1369V	ENSP00000347507:A1369V	A	-	2	0	MYH7	22957322	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.295000	0.96095	2.520000	0.84964	0.655000	0.94253	GCC	MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.647	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	79	0.00	0	G	NM_000257		23887482	23887482	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	59	37.23	35	SNP	1.000	A
MYLK2	85366	genome.wustl.edu	37	20	30414453	30414453	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:30414453C>T	ENST00000375994.2	+	6	1291	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	MYLK2_ENST00000375985.4_Missense_Mutation_p.R340C			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	340	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTGAACCACCGCAATCTGAT	0.577																																						dbGAP											0													132.0	101.0	111.0					20																	30414453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1018C>T	20.37:g.30414453C>T	ENSP00000365162:p.Arg340Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q569L1|Q96I84	Missense_Mutation	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	p.R340C	ENST00000375994.2	37	c.1018	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819900	0.32145	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.41400	1.0;1.0	3.55	1.55	0.23275	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.50017	0.1591	L	0.54323	1.7	0.43403	D	0.995538	D	0.65815	0.995	P	0.61658	0.892	T	0.45483	-0.9258	9	0.72032	D	0.01	.	6.5883	0.22632	0.0:0.5499:0.3504:0.0997	.	340	Q9H1R3	MYLK2_HUMAN	C	340	ENSP00000365162:R340C;ENSP00000365152:R340C	ENSP00000365152:R340C	R	+	1	0	MYLK2	29878114	1.000000	0.71417	0.994000	0.49952	0.439000	0.31926	1.295000	0.33377	0.203000	0.20529	-0.575000	0.04146	CGC	MYLK2	-	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	ENSG00000101306		0.577	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	53	0.00	0	C	NM_033118		30414453	30414453	+1	no_errors	ENST00000375985	ensembl	human	known	69_37n	missense	51	31.08	23	SNP	0.999	T
MYNN	55892	genome.wustl.edu	37	3	169501311	169501311	+	Silent	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:169501311C>A	ENST00000349841.5	+	6	2109	c.1446C>A	c.(1444-1446)tcC>tcA	p.S482S	MYNN_ENST00000356716.4_Silent_p.S482S|MYNN_ENST00000392733.1_Silent_p.S482S|MYNN_ENST00000544106.1_Silent_p.S482S	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTTTTATTTCCTCAGGAGAGC	0.328																																						dbGAP											0													131.0	148.0	143.0					3																	169501311		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.1446C>A	3.37:g.169501311C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S482	ENST00000349841.5	37	c.1446	CCDS3207.1	3																																																																																			MYNN	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000085274		0.328	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	368	0.00	0	C	NM_018657		169501311	169501311	+1	no_errors	ENST00000349841	ensembl	human	known	69_37n	silent	188	42.15	137	SNP	1.000	A
MYO18B	84700	genome.wustl.edu	37	22	26422501	26422501	+	Silent	SNP	A	A	G	rs73154187	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:26422501A>G	ENST00000407587.2	+	43	6733	c.6564A>G	c.(6562-6564)tcA>tcG	p.S2188S	MYO18B_ENST00000335473.7_Silent_p.S2187S|MYO18B_ENST00000536101.1_Silent_p.S2187S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2187						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCAAGACCTCAGGAGACAAGC	0.562																																						dbGAP											0													63.0	71.0	68.0					22																	26422501		1976	4153	6129	-	-	-	SO:0001819	synonymous_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6564A>G	22.37:g.26422501A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	NULL	p.Q137R	ENST00000407587.2	37	c.410		22	.	.	.	.	.	.	.	.	.	.	G	5.310	0.242622	0.10077	.	.	ENSG00000133454	ENST00000543971	.	.	.	5.01	-5.86	0.02304	.	.	.	.	.	T	0.15392	0.0371	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22417	-1.0217	4	.	.	.	.	0.5212	0.00612	0.2719:0.2928:0.2074:0.2279	.	.	.	.	R	137	.	.	Q	+	2	0	MYO18B	24752501	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.952000	0.00677	-1.555000	0.01697	-2.013000	0.00436	CAG	MYO18B	-	NULL	ENSG00000133454		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	113	0.00	0	A	NM_032608		26422501	26422501	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000543971	ensembl	human	novel	69_37n	missense	91	38.93	58	SNP	0.000	G
MYO3A	53904	genome.wustl.edu	37	10	26463470	26463470	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:26463470C>T	ENST00000265944.5	+	30	4443	c.4277C>T	c.(4276-4278)gCa>gTa	p.A1426V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1426					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGTGGTTTGGCAATTTTTTCA	0.303																																						dbGAP											0													57.0	60.0	59.0					10																	26463470		2177	4288	6465	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4277C>T	10.37:g.26463470C>T	ENSP00000265944:p.Ala1426Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.A1426V	ENST00000265944.5	37	c.4277	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374715	0.42105	.	.	ENSG00000095777	ENST00000265944	T	0.78481	-1.18	5.94	5.01	0.66863	.	0.147914	0.64402	N	0.000013	T	0.70072	0.3182	L	0.43923	1.385	0.80722	D	1	B	0.15930	0.015	B	0.11329	0.006	T	0.65340	-0.6192	10	0.38643	T	0.18	.	12.0205	0.53340	0.0:0.9162:0.0:0.0838	.	1426	Q8NEV4	MYO3A_HUMAN	V	1426	ENSP00000265944:A1426V	ENSP00000265944:A1426V	A	+	2	0	MYO3A	26503476	0.983000	0.35010	0.871000	0.34182	0.778000	0.44026	2.566000	0.45948	1.435000	0.47434	0.563000	0.77884	GCA	MYO3A	-	NULL	ENSG00000095777		0.303	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	243	0.00	0	C	NM_017433		26463470	26463470	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	128	39.91	85	SNP	0.983	T
MYO5B	4645	genome.wustl.edu	37	18	47361776	47361776	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:47361776G>A	ENST00000285039.7	-	39	5631	c.5332C>T	c.(5332-5334)Ctt>Ttt	p.L1778F	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.L348F|MYO5B_ENST00000324581.6_Missense_Mutation_p.L893F|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.L101F	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1778	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGAGTATAAAGGTTTAAAATT	0.333																																						dbGAP											0													71.0	68.0	69.0					18																	47361776		1817	4076	5893	-	-	-	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5332C>T	18.37:g.47361776G>A	ENSP00000285039:p.Leu1778Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1778F	ENST00000285039.7	37	c.5332	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965078	0.74131	.	.	ENSG00000167306	ENST00000285039;ENST00000356732;ENST00000324581	D;T	0.87179	-2.22;2.38	5.07	5.07	0.68467	Dilute (1);Dil domain (1);	0.000000	0.64402	D	0.000010	D	0.93648	0.7971	M	0.81802	2.56	0.51482	D	0.999929	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93080	0.6490	10	0.46703	T	0.11	.	18.6212	0.91322	0.0:0.0:1.0:0.0	.	1778;893	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	F	1778;650;893	ENSP00000285039:L1778F;ENSP00000315531:L893F	ENSP00000285039:L1778F	L	-	1	0	MYO5B	45615774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.759000	0.47573	2.788000	0.95919	0.650000	0.86243	CTT	MYO5B	-	pfam_Dil_domain,pfscan_Dilute	ENSG00000167306		0.333	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	153	0.00	0	G			47361776	47361776	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	94	16.07	18	SNP	1.000	A
MYO5C	55930	genome.wustl.edu	37	15	52505393	52505393	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:52505393A>G	ENST00000261839.7	-	34	4294	c.4133T>C	c.(4132-4134)cTc>cCc	p.L1378P		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1378						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACCAAGAATGAGGTTCTGAAT	0.478																																						dbGAP											0													99.0	92.0	94.0					15																	52505393		1908	4134	6042	-	-	-	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4133T>C	15.37:g.52505393A>G	ENSP00000261839:p.Leu1378Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1378P	ENST00000261839.7	37	c.4133	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662975	0.88251	.	.	ENSG00000128833	ENST00000261839	T	0.33865	1.39	5.38	5.38	0.77491	.	0.311855	0.30820	N	0.008813	T	0.62159	0.2405	M	0.81341	2.54	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	T	0.67848	-0.5564	10	0.87932	D	0	.	15.566	0.76294	1.0:0.0:0.0:0.0	.	1378	Q9NQX4	MYO5C_HUMAN	P	1378	ENSP00000261839:L1378P	ENSP00000261839:L1378P	L	-	2	0	MYO5C	50292685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.636000	0.91010	2.254000	0.74563	0.533000	0.62120	CTC	MYO5C	-	NULL	ENSG00000128833		0.478	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	91	0.00	0	A	NM_018728		52505393	52505393	-1	no_errors	ENST00000261839	ensembl	human	known	69_37n	missense	59	30.59	26	SNP	1.000	G
MYO7B	4648	genome.wustl.edu	37	2	128339974	128339974	+	Silent	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:128339974C>A	ENST00000409816.2	+	11	1328	c.1296C>A	c.(1294-1296)gcC>gcA	p.A432A	MYO7B_ENST00000389524.4_Silent_p.A432A|MYO7B_ENST00000428314.1_Silent_p.A432A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	432	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCGGAGGGCCATCGGCCTCC	0.502																																						dbGAP											0													49.0	52.0	51.0					2																	128339974		1975	4163	6138	-	-	-	SO:0001819	synonymous_variant	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1296C>A	2.37:g.128339974C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.A432	ENST00000409816.2	37	c.1296	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000169994		0.502	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	18	0.00	0	C	XM_291001		128339974	128339974	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	silent	13	45.83	11	SNP	1.000	A
MYO9A	4649	genome.wustl.edu	37	15	72190019	72190019	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:72190019C>T	ENST00000356056.5	-	25	5297	c.4825G>A	c.(4825-4827)Gga>Aga	p.G1609R	MYO9A_ENST00000424560.1_Missense_Mutation_p.G1609R|MYO9A_ENST00000566885.1_Missense_Mutation_p.G1229R|MYO9A_ENST00000444904.1_Missense_Mutation_p.G1590R|MYO9A_ENST00000564571.1_Missense_Mutation_p.G1609R|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1609	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATGGACTTCCTTTTCTTTCA	0.448																																						dbGAP											0													111.0	101.0	104.0					15																	72190019		2199	4297	6496	-	-	-	SO:0001583	missense	0			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4825G>A	15.37:g.72190019C>T	ENSP00000348349:p.Gly1609Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.G1609R	ENST00000356056.5	37	c.4825	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195674	0.78902	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84070	-1.77;-1.8;-1.77	5.92	5.92	0.95590	.	.	.	.	.	T	0.78910	0.4358	L	0.27053	0.805	0.43657	D	0.996075	P;P;D	0.53619	0.617;0.919;0.961	B;P;P	0.47206	0.382;0.51;0.541	T	0.75651	-0.3244	9	0.22109	T	0.4	.	18.4977	0.90870	0.0:1.0:0.0:0.0	.	1590;1609;1609	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	R	1609;1609;1590	ENSP00000348349:G1609R;ENSP00000399162:G1609R;ENSP00000398250:G1590R	ENSP00000348349:G1609R	G	-	1	0	MYO9A	69977073	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	5.397000	0.66302	2.801000	0.96364	0.650000	0.86243	GGA	MYO9A	-	NULL	ENSG00000066933		0.448	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	193	0.00	0	C	NM_006901		72190019	72190019	-1	no_errors	ENST00000424560	ensembl	human	known	69_37n	missense	98	40.96	68	SNP	1.000	T
MYOF	26509	genome.wustl.edu	37	10	95113625	95113625	+	Missense_Mutation	SNP	G	G	A	rs543442746		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:95113625G>A	ENST00000359263.4	-	32	3423	c.3424C>T	c.(3424-3426)Cgc>Tgc	p.R1142C	MYOF_ENST00000371502.4_Missense_Mutation_p.R1142C|MYOF_ENST00000358334.5_Missense_Mutation_p.R1129C|MYOF_ENST00000371501.4_Missense_Mutation_p.R1142C	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1142	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACATAGCAGCGCAGATGGTAG	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		18944	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													123.0	118.0	120.0					10																	95113625		1853	4104	5957	-	-	-	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3424C>T	10.37:g.95113625G>A	ENSP00000352208:p.Arg1142Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.R1142C	ENST00000359263.4	37	c.3424	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136538	0.77662	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.95	5.95	0.96441	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88815	0.6539	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90319	0.4343	10	0.87932	D	0	-12.8957	20.3789	0.98926	0.0:0.0:1.0:0.0	.	1129;1142	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	C	1129;1142;1142;1142	ENSP00000351094:R1129C;ENSP00000352208:R1142C;ENSP00000360556:R1142C;ENSP00000360557:R1142C	ENSP00000351094:R1129C	R	-	1	0	MYOF	95103615	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.820000	0.55693	2.826000	0.97356	0.563000	0.77884	CGC	MYOF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000138119		0.343	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	307	0.00	0	G	NM_013451		95113625	95113625	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	missense	119	33.15	59	SNP	1.000	A
NAA20	51126	genome.wustl.edu	37	20	20013188	20013188	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:20013188A>G	ENST00000334982.4	+	5	623	c.342A>G	c.(340-342)gtA>gtG	p.V114V	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Intron|NAA20_ENST00000398602.2_Silent_p.V102V	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	114	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						TTGTAAGAGTATCTAACCAAG	0.388																																						dbGAP											0													83.0	80.0	81.0					20																	20013188		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.342A>G	20.37:g.20013188A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.V114	ENST00000334982.4	37	c.342	CCDS13141.1	20																																																																																			NAA20	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000173418		0.388	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA20	HGNC	protein_coding	OTTHUMT00000078217.2	250	0.00	0	A	NM_016100		20013188	20013188	+1	no_errors	ENST00000334982	ensembl	human	known	69_37n	silent	101	39.52	66	SNP	0.592	G
NAA35	60560	genome.wustl.edu	37	9	88631578	88631578	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:88631578delA	ENST00000361671.5	+	18	1826	c.1693delA	c.(1693-1695)aaafs	p.K568fs		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	568					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AAAAACAAAGAAAAAAAAGAA	0.378																																						dbGAP											0													44.0	46.0	45.0					9																	88631578		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1693delA	9.37:g.88631578delA	ENSP00000354972:p.Lys568fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZE6|Q9H631|Q9H703	Frame_Shift_Del	DEL	pfam_NatC_AcTrfase_Mak10	p.K567fs	ENST00000361671.5	37	c.1693	CCDS6673.1	9																																																																																			NAA35	-	NULL	ENSG00000135040		0.378	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA35	HGNC	protein_coding	OTTHUMT00000052906.1	131	0.00	0	A	NM_024635		88631578	88631578	+1	no_errors	ENST00000361671	ensembl	human	known	69_37n	frame_shift_del	72	39.02	48	DEL	1.000	-
NAP1L2	4674	genome.wustl.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	pfam_NAP_family	p.E221in_frame_del	ENST00000373517.3	37	c.665_663	CCDS14423.1	X																																																																																			NAP1L2	-	pfam_NAP_family	ENSG00000186462		0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L2	HGNC	protein_coding	OTTHUMT00000057225.1	245	0.41	1	TCC	NM_021963		72433664	72433666	-1	no_errors	ENST00000373517	ensembl	human	known	69_37n	in_frame_del	177	20.98	47	DEL	0.004:0.003:0.000	-
NAV2	89797	genome.wustl.edu	37	11	19954975	19954975	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:19954975C>T	ENST00000396087.3	+	8	1353	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	NAV2_ENST00000396085.1_Silent_p.P395P|NAV2_ENST00000360655.4_Silent_p.P331P|NAV2_ENST00000527559.2_Silent_p.P347P|NAV2_ENST00000349880.4_Silent_p.P395P|NAV2_ENST00000540292.1_Silent_p.P349P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	418					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCCGGCCCCCAACAATCAGA	0.607																																						dbGAP											0													81.0	90.0	87.0					11																	19954975		2183	4282	6465	-	-	-	SO:0001819	synonymous_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1254C>T	11.37:g.19954975C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.P418	ENST00000396087.3	37	c.1254	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.607	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	150	0.00	0	C	NM_145117		19954975	19954975	+1	no_errors	ENST00000396087	ensembl	human	known	69_37n	silent	108	41.30	76	SNP	1.000	T
NBL1	4681	genome.wustl.edu	37	1	19969872	19969872	+	5'Flank	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:19969872G>A	ENST00000375136.3	+	0	0				NBL1_ENST00000289749.2_Missense_Mutation_p.G23S|MINOS1-NBL1_ENST00000602662.1_Intron|NBL1_ENST00000548815.1_5'Flank	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist						determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCAAGCTAGGTAAAACACA	0.537																																						dbGAP											0													48.0	53.0	52.0					1																	19969872		1993	4180	6173	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"""neuroblastoma candidate region, suppression of tumorigenicity 1"", ""neuroblastoma suppressor of tumorigenicity 1"", ""differential screening-selected gene aberrant in neuroblastoma"""	600613	"""neuroblastoma, suppression of tumorigenicity 1"""			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700		1.37:g.19969872G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C	p.G23S	ENST00000375136.3	37	c.67	CCDS196.2	1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526914	0.27299	.	.	ENSG00000158747	ENST00000289749	T	0.36340	1.26	2.56	-4.45	0.03546	.	.	.	.	.	T	0.16938	0.0407	.	.	.	0.09310	N	0.999995	B	0.09022	0.002	B	0.04013	0.001	T	0.23511	-1.0186	7	.	.	.	.	4.3782	0.11281	0.4542:0.342:0.2038:0.0	.	23	P41271-2	.	S	23	ENSP00000289749:G23S	.	G	+	1	0	NBL1	19842459	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.880000	0.04183	-1.158000	0.02811	0.313000	0.20887	GGT	NBL1	-	NULL	ENSG00000158747		0.537	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBL1	HGNC	protein_coding	OTTHUMT00000007681.4	22	0.00	0	G	NM_005380		19969872	19969872	+1	no_errors	ENST00000289749	ensembl	human	known	69_37n	missense	8	46.67	7	SNP	0.000	A
NCBP2	22916	genome.wustl.edu	37	3	196664216	196664216	+	Intron	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:196664216delA	ENST00000321256.5	-	3	493				NCBP2-AS1_ENST00000447775.1_RNA|NCBP2_ENST00000447325.1_Intron|NCBP2_ENST00000467803.1_5'UTR|NCBP2_ENST00000427641.2_Intron|NCBP2_ENST00000452404.2_Intron|NCBP2_ENST00000422610.1_Intron	NM_007362.3	NP_031388.2	P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of RNA export from nucleus (GO:0046833)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|RNA cap binding (GO:0000339)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TTCACGGTTTAAAAAAAAAAT	0.373																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D59253	CCDS3323.1, CCDS46986.1	3q29	2013-02-12	2002-08-29		ENSG00000114503	ENSG00000114503		"""RNA binding motif (RRM) containing"""	7659	protein-coding gene	gene with protein product		605133	"""nuclear cap binding protein subunit 2, 20kD"""			7478990, 7651522, 8682299	Standard	NM_001042540		Approved	NIP1, CBP20, Cbc2	uc003fxd.1	P52298	OTTHUMG00000155520	ENST00000321256.5:c.399+164T>-	3.37:g.196664216delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE91|B4DMK7|E9PAR5|Q14924|Q2TS50	RNA	DEL	-	NULL	ENST00000321256.5	37	NULL	CCDS3323.1	3																																																																																			NCBP2	-	-	ENSG00000114503		0.373	NCBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP2	HGNC	protein_coding	OTTHUMT00000340470.2	46	0.00	0	A	NM_007362		196664216	196664216	-1	no_errors	ENST00000467803	ensembl	human	putative	69_37n	rna	22	40.48	17	DEL	0.003	-
NCKAP5	344148	genome.wustl.edu	37	2	133540646	133540646	+	Silent	SNP	T	T	C	rs527691072		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:133540646T>C	ENST00000409261.1	-	14	4111	c.3738A>G	c.(3736-3738)gtA>gtG	p.V1246V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.V1246V|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1246										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCTATTATCTACCCCATCCC	0.517													T|||	1	0.000199681	0.0	0.0014	5008	,	,		18435	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													128.0	123.0	125.0					2																	133540646		1961	4153	6114	-	-	-	SO:0001819	synonymous_variant	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3738A>G	2.37:g.133540646T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	NULL	p.V1246	ENST00000409261.1	37	c.3738	CCDS46418.1	2																																																																																			NCKAP5	-	NULL	ENSG00000176771		0.517	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	157	0.00	0	T	NM_207481		133540646	133540646	-1	no_errors	ENST00000317721	ensembl	human	known	69_37n	silent	91	45.18	75	SNP	0.001	C
NDST4	64579	genome.wustl.edu	37	4	115767003	115767003	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:115767003T>C	ENST00000264363.2	-	10	2769	c.2091A>G	c.(2089-2091)tcA>tcG	p.S697S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	697	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGCCCTGTCTGAGGGGTCAA	0.423																																						dbGAP											0													124.0	118.0	120.0					4																	115767003		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2091A>G	4.37:g.115767003T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM8	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.S697	ENST00000264363.2	37	c.2091	CCDS3706.1	4																																																																																			NDST4	-	pfam_Sulfotransferase_dom	ENSG00000138653		0.423	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	91	0.00	0	T	NM_022569		115767003	115767003	-1	no_errors	ENST00000264363	ensembl	human	known	69_37n	silent	35	38.60	22	SNP	0.524	C
NDUFA9	4704	genome.wustl.edu	37	12	4794379	4794379	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:4794379G>A	ENST00000266544.5	+	10	916				RP11-234B24.6_ENST00000544741.2_Intron|NDUFA9_ENST00000540688.1_Missense_Mutation_p.G43D	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TACATCTTGGGCAGAGAGATG	0.418																																					Colon(75;996 1244 23946 25294 29232)	dbGAP											0													57.0	55.0	56.0					12																	4794379		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.897-46G>A	12.37:g.4794379G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14076|Q2NKX0	Missense_Mutation	SNP	NULL	p.G43D	ENST00000266544.5	37	c.128	CCDS8532.1	12	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343719	0.24339	.	.	ENSG00000139180	ENST00000540688	T	0.79141	-1.24	4.62	-0.756	0.11057	.	.	.	.	.	T	0.65333	0.2681	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.54906	-0.8223	6	0.38643	T	0.18	.	2.7427	0.05258	0.2461:0.1241:0.5031:0.1266	.	.	.	.	D	43	ENSP00000439818:G43D	ENSP00000439818:G43D	G	+	2	0	NDUFA9	4664640	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.062000	0.14389	-0.319000	0.08652	-0.797000	0.03246	GGC	NDUFA9	-	NULL	ENSG00000139180		0.418	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA9	HGNC	protein_coding	OTTHUMT00000398900.2	76	0.00	0	G	NM_005002		4794379	4794379	+1	no_errors	ENST00000540688	ensembl	human	putative	69_37n	missense	55	41.49	39	SNP	0.000	A
NDUFB6	4712	genome.wustl.edu	37	9	32571007	32571007	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:32571007A>G	ENST00000379847.3	-	2	325	c.224T>C	c.(223-225)gTa>gCa	p.V75A	NDUFB6_ENST00000350021.2_Missense_Mutation_p.V75A	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	75					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		AGGTACAAGTACATGAGTGAA	0.303																																						dbGAP											0													52.0	52.0	52.0					9																	32571007		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"""Mitochondrial respiratory chain complex / Complex I"""	7701	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""complex I, mitochondrial respiratory chain, B17 subunit"""	603322	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"""			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.224T>C	9.37:g.32571007A>G	ENSP00000369176:p.Val75Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Y7|Q5VYT2|Q6IB84	Missense_Mutation	SNP	pfam_NADH_DH_b-subcmplx_su6	p.V75A	ENST00000379847.3	37	c.224	CCDS6528.1	9	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704418	0.30232	.	.	ENSG00000165264	ENST00000379847;ENST00000350021	.	.	.	5.41	4.27	0.50696	.	0.448463	0.24052	N	0.041993	T	0.57110	0.2031	L	0.57536	1.79	0.36960	D	0.893297	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.60089	-0.7331	9	0.54805	T	0.06	-24.0646	10.3289	0.43809	0.9218:0.0:0.0782:0.0	.	75;75	Q5VYT2;O95139	.;NDUB6_HUMAN	A	75	.	ENSP00000297983:V75A	V	-	2	0	NDUFB6	32561007	0.975000	0.34042	0.924000	0.36721	0.004000	0.04260	5.862000	0.69560	1.063000	0.40649	0.533000	0.62120	GTA	NDUFB6	-	pfam_NADH_DH_b-subcmplx_su6	ENSG00000165264		0.303	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB6	HGNC	protein_coding	OTTHUMT00000052001.1	70	0.00	0	A	NM_002493		32571007	32571007	-1	no_errors	ENST00000379847	ensembl	human	known	69_37n	missense	31	42.59	23	SNP	0.918	G
NDUFS2	4720	genome.wustl.edu	37	1	161180412	161180412	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:161180412T>C	ENST00000367993.3	+	10	1346	c.898T>C	c.(898-900)Tgg>Cgg	p.W300R	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000476409.2_Missense_Mutation_p.W202R|NDUFS2_ENST00000392179.4_Missense_Mutation_p.W300R	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	300					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	AGGCATCCAGTGGGACCTGCG	0.522																																						dbGAP											0													130.0	104.0	113.0					1																	161180412		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.898T>C	1.37:g.161180412T>C	ENSP00000356972:p.Trp300Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD	p.W300R	ENST00000367993.3	37	c.898	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561074	0.65538	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409	D;D;D	0.88586	-2.4;-2.4;-2.4	5.15	5.15	0.70609	NADH-quinone oxidoreductase, subunit D (1);	0.117416	0.64402	D	0.000007	D	0.93556	0.7943	M	0.89095	3.005	0.52501	D	0.999954	B;P;P;P	0.49185	0.289;0.92;0.533;0.533	B;P;P;P	0.61070	0.33;0.883;0.464;0.464	D	0.94942	0.8092	9	0.87932	D	0	.	14.094	0.65008	0.0:0.0:0.0:1.0	.	249;202;300;300	B7Z792;B7Z9L2;Q53HG2;O75306	.;.;.;NDUS2_HUMAN	R	300;300;202	ENSP00000356972:W300R;ENSP00000376018:W300R;ENSP00000446447:W202R	ENSP00000356972:W300R	W	+	1	0	NDUFS2	159447036	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.182000	0.77689	2.159000	0.67721	0.459000	0.35465	TGG	NDUFS2	-	pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD	ENSG00000158864		0.522	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	101	0.00	0	T	NM_004550		161180412	161180412	+1	no_errors	ENST00000367993	ensembl	human	known	69_37n	missense	113	28.48	45	SNP	1.000	C
NEB	4703	genome.wustl.edu	37	2	152402429	152402429	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:152402429C>T	ENST00000172853.10	-	107	15594	c.15447G>A	c.(15445-15447)gtG>gtA	p.V5149V	NEB_ENST00000409198.1_Silent_p.V5149V|NEB_ENST00000427231.2_Silent_p.V6850V|NEB_ENST00000603639.1_Silent_p.V6850V|NEB_ENST00000604864.1_Silent_p.V6850V|NEB_ENST00000397345.3_Silent_p.V6850V			P20929	NEBU_HUMAN	nebulin	5149					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAGTTCTTGCACTTTTCTGT	0.368																																						dbGAP											0													157.0	142.0	147.0					2																	152402429		1897	4144	6041	-	-	-	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15447G>A	2.37:g.152402429C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.V6850	ENST00000172853.10	37	c.20550		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.368	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		21	0.00	0	C	NM_004543		152402429	152402429	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	0.935	T
NEDD4	4734	genome.wustl.edu	37	15	56122768	56122768	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:56122768C>A	ENST00000508342.1	-	24	4100	c.3801G>T	c.(3799-3801)caG>caT	p.Q1267H	NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1195H|NEDD4_ENST00000435532.3_Missense_Mutation_p.Q848H|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1251H	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1267	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CTGTAAATGACTGTGGTCCAT	0.398																																						dbGAP											0													158.0	148.0	151.0					15																	56122768		2193	4292	6485	-	-	-	SO:0001583	missense	0			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3801G>T	15.37:g.56122768C>A	ENSP00000424827:p.Gln1267His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.Q1267H	ENST00000508342.1	37	c.3801		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001686|4.001686	0.74932|0.74932	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.58060|.	0.36;0.36;0.36;0.36|.	5.45|5.45	3.53|3.53	0.40419|0.40419	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78502|0.78502	0.4293|0.4293	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.79784|.	0.993;0.992;0.993;0.989|.	T|T	0.81709|0.81709	-0.0809|-0.0809	10|5	0.87932|.	D|.	0|.	.|.	11.0006|11.0006	0.47602|0.47602	0.0:0.8468:0.0:0.1532|0.0:0.8468:0.0:0.1532	.|.	1251;848;1267;1195|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	H|I	1267;848;1195;1251|858	ENSP00000424827:Q1267H;ENSP00000410613:Q848H;ENSP00000345530:Q1195H;ENSP00000422705:Q1251H|.	ENSP00000345530:Q1195H|.	Q|S	-|-	3|2	2|0	NEDD4|NEDD4	53910060|53910060	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.890000|0.890000	0.51754|0.51754	2.076000|2.076000	0.41548|0.41548	1.271000|1.271000	0.44313|0.44313	0.591000|0.591000	0.81541|0.81541	CAG|AGT	NEDD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000069869		0.398	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	330	0.00	0	C	NM_198400		56122768	56122768	-1	no_errors	ENST00000508342	ensembl	human	known	69_37n	missense	207	43.44	159	SNP	1.000	A
NEK11	79858	genome.wustl.edu	37	3	130799340	130799340	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:130799340C>T	ENST00000510769.1	+	3	497	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	NEK11_ENST00000511262.1_Missense_Mutation_p.L82F|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510688.1_Missense_Mutation_p.L82F|NEK11_ENST00000429253.2_Missense_Mutation_p.L82F|NEK11_ENST00000356918.4_Missense_Mutation_p.L82F|NEK11_ENST00000507910.1_Missense_Mutation_p.L82F|NEK11_ENST00000508196.1_Missense_Mutation_p.L82F|NEK11_ENST00000383366.4_Missense_Mutation_p.L82F					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GGAAGCCCAACTCCTCTCCAA	0.398																																						dbGAP											0													85.0	80.0	82.0					3																	130799340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.244C>T	3.37:g.130799340C>T	ENSP00000421549:p.Leu82Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	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.L82F	ENST00000510769.1	37	c.244		3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159341	0.78226	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000303	T	0.79257	0.4415	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.995;0.999;0.995	T	0.79678	-0.1703	10	0.59425	D	0.04	.	14.1746	0.65532	0.0:0.9287:0.0:0.0713	.	82;82;82;82;82	Q8NG66-3;E9PHI8;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	F	82	ENSP00000421549:L82F;ENSP00000397180:L82F;ENSP00000349389:L82F;ENSP00000423458:L82F;ENSP00000425114:L82F;ENSP00000372857:L82F;ENSP00000426662:L82F;ENSP00000421851:L82F	ENSP00000349389:L82F	L	+	1	0	NEK11	132282030	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.973000	0.56845	2.723000	0.93209	0.655000	0.94253	CTC	NEK11	-	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	ENSG00000114670		0.398	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1	129	0.00	0	C	NM_024800		130799340	130799340	+1	no_errors	ENST00000383366	ensembl	human	known	69_37n	missense	63	46.15	54	SNP	1.000	T
NEU2	4759	genome.wustl.edu	37	2	233899281	233899281	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:233899281C>T	ENST00000233840.3	+	2	657	c.657C>T	c.(655-657)tgC>tgT	p.C219C		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	219					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CCCTGGAGTGCCAGGTGGCCG	0.662																																						dbGAP											0													56.0	56.0	56.0					2																	233899281		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.657C>T	2.37:g.233899281C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNW4|Q6NTB4	Silent	SNP	superfamily_Neuraminidase	p.C219	ENST00000233840.3	37	c.657	CCDS2501.1	2																																																																																			NEU2	-	superfamily_Neuraminidase	ENSG00000115488		0.662	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU2	HGNC	protein_coding	OTTHUMT00000257053.2	26	0.00	0	C	NM_005383		233899281	233899281	+1	no_errors	ENST00000233840	ensembl	human	known	69_37n	silent	35	40.68	24	SNP	1.000	T
NEUROG3	50674	genome.wustl.edu	37	10	71332636	71332636	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:71332636C>T	ENST00000242462.4	-	2	193	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	RP11-343J3.2_ENST00000428753.1_RNA	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	55					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGGGGCCCCTCGGCAGCCTCC	0.716																																						dbGAP											0													14.0	13.0	14.0					10																	71332636		2197	4292	6489	-	-	-	SO:0001583	missense	0			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.164G>A	10.37:g.71332636C>T	ENSP00000242462:p.Arg55Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R55Q	ENST00000242462.4	37	c.164	CCDS31212.1	10	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285464	0.40394	.	.	ENSG00000122859	ENST00000242462	D	0.94497	-3.44	4.69	3.79	0.43588	.	0.576255	0.13205	N	0.405652	D	0.87034	0.6077	N	0.19112	0.55	0.19300	N	0.999977	B	0.21147	0.052	B	0.08055	0.003	T	0.74411	-0.3674	10	0.18710	T	0.47	-1.3818	7.4774	0.27385	0.0:0.7406:0.1684:0.0909	.	55	Q9Y4Z2	NGN3_HUMAN	Q	55	ENSP00000242462:R55Q	ENSP00000242462:R55Q	R	-	2	0	NEUROG3	71002642	.	.	0.489000	0.27452	0.025000	0.11179	.	.	1.184000	0.42957	0.655000	0.94253	CGA	NEUROG3	-	NULL	ENSG00000122859		0.716	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	HGNC	protein_coding	OTTHUMT00000048464.1	16	0.00	0	C	NM_020999		71332636	71332636	-1	no_errors	ENST00000242462	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.416	T
NEXN	91624	genome.wustl.edu	37	1	78398982	78398982	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:78398982T>C	ENST00000334785.7	+	10	1253	c.1069T>C	c.(1069-1071)Tcc>Ccc	p.S357P	NEXN_ENST00000457030.1_Missense_Mutation_p.S343P|NEXN_ENST00000330010.8_Missense_Mutation_p.S293P|NEXN_ENST00000480732.2_3'UTR	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGATGATGACTCCCCAGAGAT	0.299																																						dbGAP											0													23.0	22.0	22.0					1																	78398982		1784	4056	5840	-	-	-	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1069T>C	1.37:g.78398982T>C	ENSP00000333938:p.Ser357Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.S357P	ENST00000334785.7	37	c.1069	CCDS41351.1	1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192200	0.38707	.	.	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	T;T;T;T;T	0.67171	-0.23;0.17;0.07;0.16;-0.25	5.93	3.47	0.39725	.	0.797760	0.11049	N	0.605204	T	0.44286	0.1286	L	0.61218	1.895	0.40431	D	0.979943	B;B;B;B	0.29232	0.079;0.13;0.079;0.238	B;B;B;B	0.33521	0.079;0.165;0.043;0.079	T	0.52668	-0.8545	10	0.36615	T	0.2	2.0851	2.5564	0.04761	0.2573:0.0692:0.134:0.5395	.	293;343;357;293	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;.;NEXN_HUMAN;.	P	293;343;293;357;343	ENSP00000383814:S293P;ENSP00000388048:S343P;ENSP00000327363:S293P;ENSP00000333938:S357P;ENSP00000411902:S343P	ENSP00000327363:S293P	S	+	1	0	NEXN	78171570	0.001000	0.12720	1.000000	0.80357	0.892000	0.51952	0.395000	0.20850	1.049000	0.40321	0.533000	0.62120	TCC	NEXN	-	NULL	ENSG00000162614		0.299	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	105	0.00	0	T	NM_144573		78398982	78398982	+1	no_errors	ENST00000334785	ensembl	human	known	69_37n	missense	56	46.73	50	SNP	0.704	C
NF1	4763	genome.wustl.edu	37	17	29654786	29654786	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:29654786G>A	ENST00000358273.4	+	38	5921	c.5538G>A	c.(5536-5538)cgG>cgA	p.R1846R	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Silent_p.R1825R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1846					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAGATTCGGCCAAAAGATG	0.473			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											108.0	108.0	108.0					17																	29654786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5538G>A	17.37:g.29654786G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.R1846	ENST00000358273.4	37	c.5538	CCDS42292.1	17																																																																																			NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.473	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	223	0.00	0	G	NM_000267		29654786	29654786	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	silent	128	41.28	90	SNP	0.963	A
NFE2L1	4779	genome.wustl.edu	37	17	46136540	46136540	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:46136540G>A	ENST00000362042.3	+	6	2472	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	NFE2L1_ENST00000582155.1_Missense_Mutation_p.R431Q|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Missense_Mutation_p.R589Q|NFE2L1_ENST00000536222.1_Missense_Mutation_p.R463Q|NFE2L1_ENST00000583378.1_Missense_Mutation_p.R420Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.R608Q|NFE2L1_ENST00000357480.5_Missense_Mutation_p.R589Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	619					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACCGAGCCCGAGCCATGAAG	0.547																																						dbGAP											0													49.0	42.0	44.0					17																	46136540		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1856G>A	17.37:g.46136540G>A	ENSP00000354855:p.Arg619Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.R619Q	ENST00000362042.3	37	c.1856	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896023	0.91962	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.09350	2.99;2.99	5.79	5.79	0.91817	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.51422	1.61	0.80722	D	1	D;P;D;P	0.76494	0.962;0.92;0.999;0.948	B;B;P;B	0.58172	0.374;0.158;0.834;0.228	T	0.00038	-1.2246	10	0.54805	T	0.06	-24.4335	18.8117	0.92059	0.0:0.0:1.0:0.0	.	463;431;589;619	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	Q	638;619;589;463	ENSP00000350072:R589Q;ENSP00000445811:R463Q	ENSP00000350072:R589Q	R	+	2	0	NFE2L1	43491539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.807000	0.99171	2.750000	0.94351	0.563000	0.77884	CGA	NFE2L1	-	superfamily_Euk_TF_DNA-bd	ENSG00000082641		0.547	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	106	0.00	0	G	NM_003204		46136540	46136540	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	missense	65	47.15	58	SNP	1.000	A
NGFRAP1	27018	genome.wustl.edu	37	X	102632690	102632690	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:102632690C>T	ENST00000372645.3	+	3	598	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	NGFRAP1_ENST00000361298.4_Missense_Mutation_p.R81C|NGFRAP1_ENST00000299872.7_Missense_Mutation_p.R91C|NGFRAP1_ENST00000372635.1_Missense_Mutation_p.R91C|NGFRAP1_ENST00000372634.1_Missense_Mutation_p.R81C			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	91	Interaction with 14-3-3 epsilon. {ECO:0000250}.|Interaction with p75NTR/NGFR. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GAATTGTCTGCGTATCCTTAT	0.418																																						dbGAP											0													123.0	120.0	121.0					X																	102632690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.271C>T	X.37:g.102632690C>T	ENSP00000361728:p.Arg91Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like,pirsf_BEX	p.R91C	ENST00000372645.3	37	c.271	CCDS14508.1	X	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049917	0.36181	.	.	ENSG00000166681	ENST00000361298;ENST00000372645;ENST00000372635;ENST00000372634;ENST00000299872	T;T;T;T;T	0.37411	1.2;1.91;1.91;1.2;1.91	4.1	3.23	0.37069	.	0.000000	0.44688	D	0.000440	T	0.38427	0.1040	M	0.83603	2.65	0.37810	D	0.92801	B	0.11235	0.004	B	0.04013	0.001	T	0.43653	-0.9378	10	0.59425	D	0.04	0.5049	6.8219	0.23862	0.0:0.8712:0.0:0.1288	.	91	Q00994	BEX3_HUMAN	C	81;91;91;81;91	ENSP00000354843:R81C;ENSP00000361728:R91C;ENSP00000361718:R91C;ENSP00000361717:R81C;ENSP00000299872:R91C	ENSP00000299872:R91C	R	+	1	0	NGFRAP1	102519346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.711000	0.47177	1.077000	0.40990	0.600000	0.82982	CGT	NGFRAP1	-	pfam_TF_A-like/BEX-like,pirsf_BEX	ENSG00000166681		0.418	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NGFRAP1	HGNC	protein_coding	OTTHUMT00000057709.1	341	0.00	0	C	NM_014380		102632690	102632690	+1	no_errors	ENST00000299872	ensembl	human	known	69_37n	missense	166	41.55	118	SNP	1.000	T
NHLRC2	374354	genome.wustl.edu	37	10	115657931	115657931	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:115657931G>A	ENST00000369301.3	+	6	1314	c.1102G>A	c.(1102-1104)Gca>Aca	p.A368T		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	368										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TCAGATATGGGCACTCCTGCT	0.368																																						dbGAP											0													39.0	40.0	39.0					10																	115657931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1102G>A	10.37:g.115657931G>A	ENSP00000358307:p.Ala368Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1H1|Q8N5A6	Missense_Mutation	SNP	pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr	p.A368T	ENST00000369301.3	37	c.1102	CCDS7585.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.835002	0.97003	.	.	ENSG00000196865	ENST00000369301	D	0.90385	-2.66	5.93	5.93	0.95920	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.91260	0.7245	L	0.45285	1.41	0.80722	D	1	D	0.59357	0.985	P	0.53518	0.728	D	0.89084	0.3478	10	0.29301	T	0.29	-23.7177	18.5344	0.91004	0.0:0.0:1.0:0.0	.	368	Q8NBF2	NHLC2_HUMAN	T	368	ENSP00000358307:A368T	ENSP00000358307:A368T	A	+	1	0	NHLRC2	115647921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.582000	0.98214	2.826000	0.97356	0.655000	0.94253	GCA	NHLRC2	-	NULL	ENSG00000196865		0.368	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	HGNC	protein_coding	OTTHUMT00000050446.1	182	0.00	0	G	NM_198514		115657931	115657931	+1	no_errors	ENST00000369301	ensembl	human	known	69_37n	missense	104	38.82	66	SNP	1.000	A
NHS	4810	genome.wustl.edu	37	X	17745771	17745771	+	Missense_Mutation	SNP	C	C	A	rs145977627	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:17745771C>A	ENST00000380060.3	+	6	3820	c.3482C>A	c.(3481-3483)cCg>cAg	p.P1161Q	NHS_ENST00000398097.3_Missense_Mutation_p.P1005Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1182					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGATTAGGCCGCATACAGCA	0.403																																						dbGAP											0													120.0	110.0	114.0					X																	17745771		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3482C>A	X.37:g.17745771C>A	ENSP00000369400:p.Pro1161Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.P1161Q	ENST00000380060.3	37	c.3482	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186682	0.21870	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.54279	0.58;0.61	5.79	2.13	0.27403	.	0.546110	0.22034	N	0.065546	T	0.54598	0.1868	M	0.69823	2.125	0.32775	N	0.503276	B;B;B;P	0.51933	0.06;0.06;0.06;0.949	B;B;B;P	0.52267	0.074;0.042;0.042;0.694	T	0.60606	-0.7230	10	0.45353	T	0.12	-0.694	2.8593	0.05582	0.1262:0.5486:0.1196:0.2056	.	1182;1003;1005;1161	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	Q	1161;1005;1003	ENSP00000369400:P1161Q;ENSP00000381170:P1005Q	ENSP00000369397:P1003Q	P	+	2	0	NHS	17655692	0.400000	0.25295	0.006000	0.13384	0.001000	0.01503	0.930000	0.28858	-0.005000	0.14395	-1.043000	0.02367	CCG	NHS	-	NULL	ENSG00000188158		0.403	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	797	0.38	3	C	NM_198270		17745771	17745771	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	missense	335	38.19	207	SNP	0.771	A
NKX3-1	4824	genome.wustl.edu	37	8	23538901	23538901	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:23538901T>C	ENST00000380871.4	-	2	575	c.538A>G	c.(538-540)Aag>Gag	p.K180E	NKX3-1_ENST00000523261.1_Missense_Mutation_p.K105E	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	180					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TGCTTTCGCTTAGTCTTATAG	0.587																																						dbGAP											0													161.0	158.0	159.0					8																	23538901		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.538A>G	8.37:g.23538901T>C	ENSP00000370253:p.Lys180Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.K180E	ENST00000380871.4	37	c.538	CCDS6042.1	8	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549282	0.86127	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.98296	-4.85;-4.85	5.87	5.87	0.94306	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98374	1.0555	10	0.87932	D	0	.	14.5226	0.67863	0.0:0.0:0.0:1.0	.	180	Q99801	NKX31_HUMAN	E	180;136;105	ENSP00000370253:K180E;ENSP00000429729:K105E	ENSP00000300332:K136E	K	-	1	0	NKX3-1	23594846	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	7.975000	0.88055	2.371000	0.80710	0.533000	0.62120	AAG	NKX3-1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	ENSG00000167034		0.587	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX3-1	HGNC	protein_coding	OTTHUMT00000215141.2	187	0.00	0	T			23538901	23538901	-1	no_errors	ENST00000380871	ensembl	human	known	69_37n	missense	145	33.79	74	SNP	1.000	C
NLGN2	57555	genome.wustl.edu	37	17	7315493	7315493	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:7315493C>T	ENST00000302926.2	+	2	548	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	NLGN2_ENST00000575301.1_Missense_Mutation_p.R159C	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	159					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CACAAAAAAACGTGACGAGGC	0.522																																						dbGAP											0													69.0	67.0	67.0					17																	7315493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.475C>T	17.37:g.7315493C>T	ENSP00000305288:p.Arg159Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2I1	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R159C	ENST00000302926.2	37	c.475	CCDS11103.1	17	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646615	0.47258	.	.	ENSG00000169992	ENST00000302926	T	0.68181	-0.31	5.47	5.47	0.80525	Carboxylesterase, type B (1);	0.364111	0.22304	N	0.061839	T	0.50769	0.1635	N	0.08118	0	0.58432	D	0.999997	B	0.15930	0.015	B	0.20955	0.032	T	0.49341	-0.8950	10	0.59425	D	0.04	.	17.171	0.86830	0.0:1.0:0.0:0.0	.	159	Q8NFZ4	NLGN2_HUMAN	C	159	ENSP00000305288:R159C	ENSP00000305288:R159C	R	+	1	0	NLGN2	7256217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.724000	0.61972	2.729000	0.93468	0.555000	0.69702	CGT	NLGN2	-	pfam_CarbesteraseB	ENSG00000169992		0.522	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	HGNC	protein_coding	OTTHUMT00000226941.2	50	0.00	0	C	NM_020795		7315493	7315493	+1	no_errors	ENST00000302926	ensembl	human	known	69_37n	missense	82	12.77	12	SNP	1.000	T
NLGN3	54413	genome.wustl.edu	37	X	70367816	70367816	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:70367816C>T	ENST00000358741.3	+	2	520	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	NLGN3_ENST00000536169.1_Missense_Mutation_p.P73S|NLGN3_ENST00000374051.3_Missense_Mutation_p.P73S	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	73					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCTGGGGGTGCCCTACGCAGC	0.632																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0													50.0	44.0	46.0					X																	70367816		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.217C>T	X.37:g.70367816C>T	ENSP00000351591:p.Pro73Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P73S	ENST00000358741.3	37	c.217	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982664	0.74474	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.96543	0.9402	10	0.87932	D	0	.	17.1255	0.86713	0.0:1.0:0.0:0.0	.	73;73;73	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	S	73	ENSP00000445298:P73S;ENSP00000363163:P73S;ENSP00000379196:P73S;ENSP00000351591:P73S	ENSP00000351591:P73S	P	+	1	0	NLGN3	70284541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.223000	0.72356	0.529000	0.55759	CCC	NLGN3	-	pfam_CarbesteraseB	ENSG00000196338		0.632	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	40	0.00	0	C	NM_018977		70367816	70367816	+1	no_errors	ENST00000358741	ensembl	human	known	69_37n	missense	31	40.38	21	SNP	1.000	T
NLGN3	54413	genome.wustl.edu	37	X	70390033	70390034	+	3'UTR	DEL	AC	AC	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:70390033_70390034delAC	ENST00000358741.3	+	0	2936_2937				NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_3'UTR|NLGN3_ENST00000374051.3_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3						adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					acacacgcagacacacacacac	0.535																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.*87AC>-	X.37:g.70390043_70390044delAC		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	RNA	DEL	-	NULL	ENST00000358741.3	37	NULL	CCDS55441.1	X																																																																																			NLGN3	-	-	ENSG00000196338		0.535	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	36	0.00	0	AC	NM_018977		70390033	70390034	+1	no_errors	ENST00000476589	ensembl	human	known	69_37n	rna	34	10.53	4	DEL	0.115:0.187	-
NLRP3	114548	genome.wustl.edu	37	1	247587865	247587865	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:247587865T>C	ENST00000336119.3	+	3	1866	c.1120T>C	c.(1120-1122)Tcc>Ccc	p.S374P	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.S374P|NLRP3_ENST00000366497.2_Missense_Mutation_p.S374P|NLRP3_ENST00000366496.2_Missense_Mutation_p.S374P|NLRP3_ENST00000348069.2_Missense_Mutation_p.S374P|NLRP3_ENST00000391827.2_Missense_Mutation_p.S374P	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	374	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTGGGTTTCTCCGAGGCCAA	0.557																																						dbGAP											0													61.0	62.0	62.0					1																	247587865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1120T>C	1.37:g.247587865T>C	ENSP00000337383:p.Ser374Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S374P	ENST00000336119.3	37	c.1120	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622197	0.46840	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.000000	0.44285	D	0.000473	D	0.91418	0.7292	M	0.91196	3.185	0.36580	D	0.873493	P;D;P;P;D	0.89917	0.782;0.978;0.653;0.858;1.0	P;P;P;P;D	0.87578	0.631;0.867;0.482;0.814;0.998	D	0.93381	0.6743	10	0.59425	D	0.04	.	9.2995	0.37835	0.0:0.0:0.0:1.0	.	374;374;374;374;374	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	P	374	ENSP00000375704:S374P;ENSP00000355453:S374P;ENSP00000337383:S374P;ENSP00000294752:S374P;ENSP00000355452:S374P;ENSP00000375703:S374P	ENSP00000337383:S374P	S	+	1	0	NLRP3	245654488	0.998000	0.40836	0.994000	0.49952	0.454000	0.32378	2.451000	0.44952	1.972000	0.57404	0.460000	0.39030	TCC	NLRP3	-	pfscan_NACHT_NTPase	ENSG00000162711		0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	143	0.00	0	T	NM_004895		247587865	247587865	+1	no_errors	ENST00000336119	ensembl	human	known	69_37n	missense	145	30.62	64	SNP	0.994	C
NLRP7	199713	genome.wustl.edu	37	19	55450979	55450979	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:55450979G>A	ENST00000590030.1	-	3	1248	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	NLRP7_ENST00000592784.1_Missense_Mutation_p.P403L|NLRP7_ENST00000328092.5_Missense_Mutation_p.P403L|NLRP7_ENST00000448121.2_Missense_Mutation_p.P403L|NLRP7_ENST00000340844.2_Missense_Mutation_p.P403L|NLRP7_ENST00000446217.1_Missense_Mutation_p.P431L|NLRP7_ENST00000588756.1_Missense_Mutation_p.P403L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGCGCCCTGCGGGAACCGGCT	0.697																																						dbGAP											0													8.0	8.0	8.0					19																	55450979		1947	3869	5816	-	-	-	SO:0001583	missense	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1208C>T	19.37:g.55450979G>A	ENSP00000465520:p.Pro403Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P431L	ENST00000590030.1	37	c.1292	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333696	0.24167	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.76060	-0.93;-0.93;-0.99;-0.96	1.89	-0.295	0.12828	.	1.867360	0.03467	N	0.213093	T	0.70176	0.3194	M	0.70595	2.14	0.09310	N	1	B;B;B;P	0.35307	0.362;0.362;0.362;0.494	B;B;B;B	0.31390	0.061;0.061;0.061;0.129	T	0.53774	-0.8391	10	0.41790	T	0.15	.	5.6749	0.17743	0.3236:0.0:0.6764:0.0	.	431;403;403;403	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	L	403;403;403;431;170	ENSP00000329568:P403L;ENSP00000409137:P403L;ENSP00000339491:P403L;ENSP00000414273:P431L	ENSP00000329568:P403L	P	-	2	0	NLRP7	60142791	0.000000	0.05858	0.003000	0.11579	0.084000	0.17831	0.191000	0.17076	-0.024000	0.13941	0.462000	0.41574	CCG	NLRP7	-	NULL	ENSG00000167634		0.697	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	21	0.00	0	G	NM_139176		55450979	55450979	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	missense	22	38.89	14	SNP	0.007	A
NLRX1	79671	genome.wustl.edu	37	11	119050497	119050497	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:119050497C>T	ENST00000409109.1	+	7	2354	c.1767C>T	c.(1765-1767)taC>taT	p.Y589Y	NLRX1_ENST00000409265.4_Silent_p.Y589Y|NLRX1_ENST00000525863.1_Silent_p.Y589Y|NLRX1_ENST00000409991.1_Silent_p.Y589Y|NLRX1_ENST00000292199.2_Silent_p.Y589Y	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	589	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGGACTACTACAACGATGATG	0.607																																						dbGAP											0													115.0	117.0	116.0					11																	119050497		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1767C>T	11.37:g.119050497C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.Y589	ENST00000409109.1	37	c.1767	CCDS8416.1	11																																																																																			NLRX1	-	NULL	ENSG00000160703		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	53	0.00	0	C	NM_170722		119050497	119050497	+1	no_errors	ENST00000292199	ensembl	human	known	69_37n	silent	39	38.10	24	SNP	1.000	T
NNT	23530	genome.wustl.edu	37	5	43619173	43619173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:43619173delT	ENST00000264663.5	+	5	860	c.639delT	c.(637-639)cgtfs	p.R213fs	NNT_ENST00000344920.4_Frame_Shift_Del_p.R213fs|NNT_ENST00000512996.2_Frame_Shift_Del_p.R82fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	213					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATTTTGGACGTTTTTTTACTG	0.318																																						dbGAP											0													72.0	70.0	70.0					5																	43619173		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.639delT	5.37:g.43619173delT	ENSP00000264663:p.Arg213fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16796|Q2TB60|Q8N3V4	Frame_Shift_Del	DEL	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.F215fs	ENST00000264663.5	37	c.639	CCDS3949.1	5																																																																																			NNT	-	pfam_AlaDH/PNT_NAD(H)-bd,tigrfam_NADP_transhyd_a	ENSG00000112992		0.318	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	45	0.00	0	T	NM_182977		43619173	43619173	+1	no_errors	ENST00000264663	ensembl	human	known	69_37n	frame_shift_del	35	35.19	19	DEL	0.010	-
NOBOX	135935	genome.wustl.edu	37	7	144097353	144097353	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:144097353A>G	ENST00000467773.1	-	5	896	c.897T>C	c.(895-897)agT>agC	p.S299S	NOBOX_ENST00000223140.5_Silent_p.S214S|NOBOX_ENST00000483238.1_Silent_p.S299S	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	299					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCGTTTATCACTGTCAGGAT	0.562																																						dbGAP											0													93.0	85.0	87.0					7																	144097353		1900	4134	6034	-	-	-	SO:0001819	synonymous_variant	0					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.897T>C	7.37:g.144097353A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCD3|A8MZN5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S299	ENST00000467773.1	37	c.897		7																																																																																			NOBOX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000106410		0.562	NOBOX-002	KNOWN	basic	protein_coding	NOBOX	HGNC	protein_coding	OTTHUMT00000350095.1	64	0.00	0	A	XM_001134420		144097353	144097353	-1	no_errors	ENST00000467773	ensembl	human	known	69_37n	silent	49	38.75	31	SNP	0.771	G
NOL7	51406	genome.wustl.edu	37	6	13620992	13620992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:13620992delA	ENST00000451315.2	+	8	739	c.707delA	c.(706-708)caafs	p.Q236fs	RANBP9_ENST00000469916.1_5'Flank|AL441883.1_ENST00000600057.1_Frame_Shift_Del_p.W44fs|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	236						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q239fs*7(1)|p.K238fs*16(1)		breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			CTAGGAATCCAAAAAAAACAA	0.269																																						dbGAP											2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(2)											30.0	32.0	31.0					6																	13620992		2203	4289	6492	-	-	-	SO:0001589	frameshift_variant	0			AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.707delA	6.37:g.13620992delA	ENSP00000405674:p.Gln236fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T297|Q9Y3U7	Frame_Shift_Del	DEL	pfam_NUC129	p.K238fs	ENST00000451315.2	37	c.707	CCDS4528.1	6																																																																																			NOL7	-	NULL	ENSG00000225921		0.269	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL7	HGNC	protein_coding	OTTHUMT00000039904.1	110	0.89	1	A	NM_016167		13620992	13620992	+1	no_errors	ENST00000451315	ensembl	human	known	69_37n	frame_shift_del	48	32.43	24	DEL	0.993	-
NONO	4841	genome.wustl.edu	37	X	70520012	70520012	+	3'UTR	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:70520012G>A	ENST00000276079.8	+	0	1707				NONO_ENST00000490044.1_3'UTR|ITGB1BP2_ENST00000373829.3_5'Flank|ITGB1BP2_ENST00000538820.1_5'Flank|NONO_ENST00000373856.3_3'UTR|NONO_ENST00000535149.1_3'UTR|NONO_ENST00000373841.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding						circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AAAGTGTTAGGGATTCCTTCC	0.453			T	TFE3	papillary renal cancer																																	dbGAP		Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.*86G>A	X.37:g.70520012G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	RNA	SNP	-	NULL	ENST00000276079.8	37	NULL	CCDS14410.1	X																																																																																			NONO	-	-	ENSG00000147140		0.453	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1	83	0.00	0	G	NM_007363		70520012	70520012	+1	no_errors	ENST00000473525	ensembl	human	known	69_37n	rna	73	39.67	48	SNP	1.000	A
NOS1	4842	genome.wustl.edu	37	12	117749371	117749371	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:117749371G>T	ENST00000338101.4	-	2	756	c.752C>A	c.(751-753)cCt>cAt	p.P251H	NOS1_ENST00000344089.3_Missense_Mutation_p.P251H|NOS1_ENST00000317775.6_Missense_Mutation_p.P251H			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GAGGGGCAGAGGTTTGTGTGA	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											0													76.0	78.0	77.0					12																	117749371		1996	4165	6161	-	-	-	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.752C>A	12.37:g.117749371G>T	ENSP00000337459:p.Pro251His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.P251H	ENST00000338101.4	37	c.752	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665625	0.67700	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.05382	5.0;3.45;5.0	5.65	4.75	0.60458	.	0.502729	0.22137	N	0.064107	T	0.07279	0.0184	L	0.47716	1.5	0.23204	N	0.99812	B	0.29270	0.24	B	0.30572	0.117	T	0.25222	-1.0138	10	0.27082	T	0.32	-4.5794	11.0135	0.47675	0.0885:0.0:0.9115:0.0	.	251	P29475	NOS1_HUMAN	H	251	ENSP00000320758:P251H;ENSP00000339862:P251H;ENSP00000337459:P251H	ENSP00000320758:P251H	P	-	2	0	NOS1	116233754	0.315000	0.24571	0.248000	0.24265	0.899000	0.52679	2.964000	0.49192	2.657000	0.90304	0.561000	0.74099	CCT	NOS1	-	pirsf_NOS_met	ENSG00000089250		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	50	0.00	0	G			117749371	117749371	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.900	T
NOTUM	147111	genome.wustl.edu	37	17	79911043	79911043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:79911043delG	ENST00000409678.3	-	11	1668	c.1285delC	c.(1285-1287)ctcfs	p.L429fs		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	429						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGCCCTTGAGGGGGGTCTTG	0.662																																						dbGAP											0													24.0	24.0	24.0					17																	79911043		2203	4295	6498	-	-	-	SO:0001589	frameshift_variant	0			BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1285delC	17.37:g.79911043delG	ENSP00000387310:p.Leu429fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N410|Q8NI82	Frame_Shift_Del	DEL	pfam_Pec_acetylest	p.L429fs	ENST00000409678.3	37	c.1285	CCDS32771.2	17																																																																																			NOTUM	-	NULL	ENSG00000185269		0.662	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTUM	HGNC	protein_coding	OTTHUMT00000335123.2	33	0.00	0	G	NM_178493		79911043	79911043	-1	no_errors	ENST00000409678	ensembl	human	known	69_37n	frame_shift_del	20	37.84	14	DEL	0.933	-
NPFFR2	10886	genome.wustl.edu	37	4	73013014	73013014	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:73013014G>A	ENST00000308744.6	+	4	1152	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	NPFFR2_ENST00000395999.1_Missense_Mutation_p.A253T|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.A250T|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	352					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTTCAGGGCTGCAGTTCCTCA	0.502																																						dbGAP											0													80.0	74.0	76.0					4																	73013014		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1054G>A	4.37:g.73013014G>A	ENSP00000307822:p.Ala352Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RV1|Q9NR49	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.A352T	ENST00000308744.6	37	c.1054	CCDS3551.1	4	.	.	.	.	.	.	.	.	.	.	G	6.254	0.414894	0.11870	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.38401	1.14;1.14;1.14	5.82	-5.13	0.02884	GPCR, rhodopsin-like superfamily (1);	0.864238	0.10145	N	0.710307	T	0.21387	0.0515	L	0.39633	1.23	0.09310	N	0.999998	B;B	0.16166	0.001;0.016	B;B	0.18263	0.005;0.021	T	0.25187	-1.0139	10	0.20519	T	0.43	.	4.709	0.12863	0.1171:0.0904:0.6131:0.1793	.	253;352	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	T	352;253;250	ENSP00000307822:A352T;ENSP00000379321:A253T;ENSP00000351599:A250T	ENSP00000307822:A352T	A	+	1	0	NPFFR2	73231878	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.030000	0.12308	-1.542000	0.01725	-0.229000	0.12294	GCA	NPFFR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000056291		0.502	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	181	0.00	0	G	NM_004885		73013014	73013014	+1	no_errors	ENST00000308744	ensembl	human	known	69_37n	missense	82	44.97	67	SNP	0.000	A
NPHP1	4867	genome.wustl.edu	37	2	110919222	110919222	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:110919222T>C	ENST00000393272.3	-	10	1174	c.1077A>G	c.(1075-1077)caA>caG	p.Q359Q	NPHP1_ENST00000445609.2_Silent_p.Q304Q|NPHP1_ENST00000417665.1_Silent_p.Q303Q|NPHP1_ENST00000355301.4_Silent_p.Q241Q|NPHP1_ENST00000316534.4_Silent_p.Q360Q	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	359					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TGAAGGCCAGTTGTGAAGGCA	0.363																																						dbGAP											0													92.0	88.0	90.0					2																	110919222		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1077A>G	2.37:g.110919222T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O14837	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.Q360	ENST00000393272.3	37	c.1080	CCDS46385.1	2																																																																																			NPHP1	-	NULL	ENSG00000144061		0.363	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	143	0.00	0	T	NM_000272		110919222	110919222	-1	no_errors	ENST00000316534	ensembl	human	known	69_37n	silent	63	43.24	48	SNP	0.979	C
NPR2	4882	genome.wustl.edu	37	9	35802729	35802729	+	Splice_Site	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:35802729G>T	ENST00000342694.2	+	12	2071	c.1816G>T	c.(1816-1818)Gat>Tat	p.D606Y		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CACTTACCAGGATATTCTAGA	0.443																																						dbGAP											0													187.0	165.0	172.0					9																	35802729		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1816-1G>T	9.37:g.35802729G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.D606Y	ENST00000342694.2	37	c.1816	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989813	0.74589	.	.	ENSG00000159899	ENST00000342694	T	0.44083	0.93	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46758	D	0.000264	T	0.70046	0.3179	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75096	-0.3438	9	.	.	.	.	15.9951	0.80234	0.0:0.0:1.0:0.0	.	606	P20594	ANPRB_HUMAN	Y	606	ENSP00000341083:D606Y	.	D	+	1	0	NPR2	35792729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.523000	0.98034	2.645000	0.89757	0.655000	0.94253	GAT	NPR2	-	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	ENSG00000159899		0.443	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	329	0.00	0	G		Missense_Mutation	35802729	35802729	+1	no_errors	ENST00000342694	ensembl	human	known	69_37n	missense	180	37.50	108	SNP	1.000	T
NPSR1	387129	genome.wustl.edu	37	7	34867150	34867150	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:34867150T>C	ENST00000360581.1	+	5	744	c.616T>C	c.(616-618)Tac>Cac	p.Y206H	NPSR1_ENST00000381542.1_Missense_Mutation_p.Y140H|NPSR1_ENST00000381539.3_Missense_Mutation_p.Y206H|NPSR1_ENST00000359791.1_Missense_Mutation_p.Y206H|NPSR1_ENST00000531252.1_Missense_Mutation_p.Y195H	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	206						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGACGACTCCTACTGGACCCC	0.552																																						dbGAP											0													153.0	135.0	141.0					7																	34867150		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.616T>C	7.37:g.34867150T>C	ENSP00000353788:p.Tyr206His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Vasoprsn_rcpt	p.Y206H	ENST00000360581.1	37	c.616	CCDS5444.1	7	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436357	0.62955	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.53706	0.1813	L	0.51853	1.615	0.46011	D	0.998819	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.994;0.999;0.995	D;D;D;D;D;D	0.91635	0.999;0.992;0.998;0.946;0.988;0.968	T	0.50931	-0.8769	10	0.40728	T	0.16	-24.6837	14.6901	0.69080	0.0:0.0:0.0:1.0	.	140;195;140;206;206;206	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	H	206;140;206;195;206;69	ENSP00000353788:Y206H;ENSP00000370953:Y140H;ENSP00000352839:Y206H;ENSP00000433258:Y195H;ENSP00000370950:Y206H	ENSP00000334093:Y69H	Y	+	1	0	NPSR1	34833675	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.650000	0.67944	2.065000	0.61736	0.533000	0.62120	TAC	NPSR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000187258		0.552	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPSR1	HGNC	protein_coding	OTTHUMT00000216837.1	199	0.00	0	T	NM_207173		34867150	34867150	+1	no_errors	ENST00000381539	ensembl	human	known	69_37n	missense	126	40.85	87	SNP	1.000	C
NUDC	10726	genome.wustl.edu	37	1	27271994	27271994	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:27271994G>A	ENST00000321265.5	+	7	948				NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein						cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGGAGCTTCAGCAGGAAGGTG	0.572																																						dbGAP											0													54.0	51.0	52.0					1																	27271994		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.825+30G>A	1.37:g.27271994G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	RNA	SNP	-	NULL	ENST00000321265.5	37	NULL	CCDS292.1	1																																																																																			NUDC	-	-	ENSG00000090273		0.572	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	45	0.00	0	G			27271994	27271994	+1	no_errors	ENST00000484772	ensembl	human	known	69_37n	rna	38	39.68	25	SNP	0.001	A
IL18BP	10068	genome.wustl.edu	37	11	71716290	71716290	+	IGR	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:71716290G>A	ENST00000393703.4	+	0	1788				NUMA1_ENST00000393695.3_Silent_p.L1940L|NUMA1_ENST00000351960.6_Silent_p.L804L|NUMA1_ENST00000358965.6_Silent_p.L1926L	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CTGGACTCCAGGGGATAGCAG	0.622																																						dbGAP											0													60.0	52.0	55.0					11																	71716290		2200	4293	6493	-	-	-	SO:0001628	intergenic_variant	0			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71716290G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Silent	SNP	superfamily_Prefoldin	p.L1940	ENST00000393703.4	37	c.5818	CCDS8206.2	11																																																																																			NUMA1	-	NULL	ENSG00000137497		0.622	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000258012.2	29	0.00	0	G	NM_173042		71716290	71716290	-1	no_errors	ENST00000393695	ensembl	human	known	69_37n	silent	12	52.00	13	SNP	0.975	A
NUP160	23279	genome.wustl.edu	37	11	47861824	47861824	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:47861824C>T	ENST00000378460.2	-	3	572				NUP160_ENST00000528071.1_Intron|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000530326.1_Intron|NUP160_ENST00000526870.1_Missense_Mutation_p.V211I	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGAGGGATAACGAGAATCCAA	0.353																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.525+105G>A	11.37:g.47861824C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.V211I	ENST00000378460.2	37	c.631	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	c	11.96	1.793908	0.31777	.	.	ENSG00000030066	ENST00000526870	T	0.49432	0.78	4.43	2.46	0.29980	.	.	.	.	.	T	0.32882	0.0844	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16394	-1.0404	8	0.19590	T	0.45	.	13.0977	0.59202	0.0:0.9091:0.0:0.0909	.	211	Q12769-2	.	I	211	ENSP00000431495:V211I	ENSP00000431495:V211I	V	-	1	0	NUP160	47818400	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	-0.182000	0.09726	0.498000	0.27948	-0.898000	0.02899	GTT	NUP160	-	NULL	ENSG00000030066		0.353	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	171	0.00	0	C	NM_015231		47861824	47861824	-1	no_errors	ENST00000526870	ensembl	human	known	69_37n	missense	88	46.34	76	SNP	0.012	T
NUMA1	4926	genome.wustl.edu	37	11	71727202	71727202	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:71727202C>T	ENST00000393695.3	-	15	1678	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.K449K	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CAGCAAGCAGCTTGGCTTCCT	0.567			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													71.0	69.0	70.0					11																	71727202		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1347G>A	11.37:g.71727202C>T		Somatic	1132	WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Prefoldin	p.K449	ENST00000393695.3	37	c.1347	CCDS31633.1	11																																																																																			NUMA1	-	NULL	ENSG00000137497		0.567	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	45	0.00	0	C			71727202	71727202	-1	no_errors	ENST00000393695	ensembl	human	known	69_37n	silent	35	38.60	22	SNP	0.030	T
NUP188	23511	genome.wustl.edu	37	9	131718643	131718643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:131718643delA	ENST00000372577.2	+	4	197	c.176delA	c.(175-177)gaafs	p.E59fs	NUP188_ENST00000550219.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Frame_Shift_Del_p.K81fs	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	59					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGTTCAGCTGAAAAAGTGAAA	0.313																																						dbGAP											0													62.0	64.0	63.0					9																	131718643		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.176delA	9.37:g.131718643delA	ENSP00000361658:p.Glu59fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Frame_Shift_Del	DEL	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.V61fs	ENST00000372577.2	37	c.176	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188	ENSG00000095319		0.313	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	56	0.00	0	A			131718643	131718643	+1	no_errors	ENST00000372577	ensembl	human	known	69_37n	frame_shift_del	40	32.20	19	DEL	1.000	-
NUP188	23511	genome.wustl.edu	37	9	131764173	131764173	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:131764173C>T	ENST00000372577.2	+	36	4076	c.4055C>T	c.(4054-4056)gCa>gTa	p.A1352V	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1352					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGAGCCACAGCAGTGGCTGGA	0.587																																						dbGAP											0													59.0	53.0	55.0					9																	131764173		2203	4300	6503	-	-	-	SO:0001583	missense	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4055C>T	9.37:g.131764173C>T	ENSP00000361658:p.Ala1352Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.A1352V	ENST00000372577.2	37	c.4055	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822269	0.50739	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.30981	1.51	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.55103	1.725	0.80722	D	1	P;D	0.63880	0.911;0.993	B;D	0.72625	0.232;0.978	T	0.36432	-0.9748	10	0.36615	T	0.2	-12.0873	17.1107	0.86674	0.0:1.0:0.0:0.0	.	685;1352	E9PET9;Q5SRE5	.;NU188_HUMAN	V	1241;1352	ENSP00000361658:A1352V	ENSP00000349125:A1241V	A	+	2	0	NUP188	130803994	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.060000	0.76692	2.619000	0.88677	0.462000	0.41574	GCA	NUP188	-	NULL	ENSG00000095319		0.587	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	50	0.00	0	C			131764173	131764173	+1	no_errors	ENST00000372577	ensembl	human	known	69_37n	missense	43	41.10	30	SNP	1.000	T
NUP98	4928	genome.wustl.edu	37	11	3707219	3707219	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:3707219G>A	ENST00000324932.7	-	29	5080	c.4660C>T	c.(4660-4662)Cac>Tac	p.H1554Y	NUP98_ENST00000359171.4_Intron|NUP98_ENST00000355260.3_Intron	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1571					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|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)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTGTCAATGTGCAGGAGGACA	0.532			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	dbGAP		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													67.0	64.0	65.0					11																	3707219		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4660C>T	11.37:g.3707219G>A	ENSP00000316032:p.His1554Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.H1554Y	ENST00000324932.7	37	c.4660	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.184375|3.184375	0.57800|0.57800	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85952|0.85952	0.5817|0.5817	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.996	.|D;D	.|0.81914	.|0.995;0.909	D|D	0.87491|0.87491	0.2427|0.2427	5|9	.|0.54805	.|T	.|0.06	-12.14|-12.14	18.992|18.992	0.92796|0.92796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1554;1468	.|P52948-5;P52948-6	.|.;.	V|Y	506|1554	.|.	.|ENSP00000316032:H1554Y	A|H	-|-	2|1	0|0	NUP98|NUP98	3663795|3663795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.357000|0.357000	0.29423|0.29423	7.564000|7.564000	0.82326|0.82326	2.805000|2.805000	0.96524|0.96524	0.650000|0.650000	0.86243|0.86243	GCA|CAC	NUP98	-	pfam_Nup96	ENSG00000110713		0.532	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	64	0.00	0	G	NM_016320		3707219	3707219	-1	no_errors	ENST00000324932	ensembl	human	known	69_37n	missense	28	54.84	34	SNP	1.000	A
NUPL1	9818	genome.wustl.edu	37	13	25895227	25895227	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:25895227C>T	ENST00000381736.3	+	9	1197	c.947C>T	c.(946-948)gCt>gTt	p.A316V	NUPL1_ENST00000381718.3_Missense_Mutation_p.A304V|NUPL1_ENST00000463407.1_Missense_Mutation_p.A316V|NUPL1_ENST00000466694.1_3'UTR	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	316	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ATAGAAACTGCTCAGGTATAC	0.343																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	dbGAP											0													97.0	100.0	99.0					13																	25895227		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.947C>T	13.37:g.25895227C>T	ENSP00000371155:p.Ala316Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.A316V	ENST00000381736.3	37	c.947	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.644817	0.96704	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.52526	1.25;1.26;1.22;1.25;0.66	5.94	5.94	0.96194	.	0.143044	0.64402	D	0.000006	T	0.54598	0.1868	L	0.54323	1.7	0.80722	D	1	P;P;D	0.53462	0.878;0.878;0.96	P;B;P	0.47402	0.546;0.441;0.51	T	0.53662	-0.8407	10	0.51188	T	0.08	-2.3646	20.4167	0.99026	0.0:1.0:0.0:0.0	.	304;316;316	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	V	316;304;293;316;304;316;263	ENSP00000371155:A316V;ENSP00000418555:A316V;ENSP00000371137:A304V;ENSP00000371166:A316V;ENSP00000408147:A263V	ENSP00000318459:A293V	A	+	2	0	NUPL1	24793227	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.623000	0.83113	2.836000	0.97738	0.650000	0.86243	GCT	NUPL1	-	NULL	ENSG00000139496		0.343	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	208	0.00	0	C			25895227	25895227	+1	no_errors	ENST00000381736	ensembl	human	known	69_37n	missense	140	25.93	49	SNP	1.000	T
NXF1	10482	genome.wustl.edu	37	11	62559918	62559918	+	3'UTR	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:62559918delG	ENST00000532297.1	-	0	2519				NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000294172.2_3'UTR|TMEM223_ENST00000525631.1_5'Flank|NXF1_ENST00000531709.2_3'UTR|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000307366.7_5'Flank			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTATTTACAGGGGGGACTGC	0.562																																						dbGAP											0													241.0	247.0	245.0					11																	62559918		2201	4299	6500	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.*30C>-	11.37:g.62559918delG		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E269|Q99799|Q9UQL2	RNA	DEL	-	NULL	ENST00000532297.1	37	NULL	CCDS8037.1	11																																																																																			NXF1	-	-	ENSG00000162231		0.562	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	337	0.00	0	G	NM_006362		62559918	62559918	-1	no_errors	ENST00000533048	ensembl	human	known	69_37n	rna	194	33.22	101	DEL	0.680	-
OBSCN	84033	genome.wustl.edu	37	1	228529166	228529166	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:228529166T>C	ENST00000422127.1	+	74	17929	c.17885T>C	c.(17884-17886)gTg>gCg	p.V5962A	OBSCN_ENST00000366707.4_Missense_Mutation_p.V3596A|OBSCN_ENST00000284548.11_Missense_Mutation_p.V5962A|OBSCN_ENST00000570156.2_Missense_Mutation_p.V6919A|OBSCN_ENST00000366709.4_Missense_Mutation_p.V3081A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5962	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AACGACCAGGTGGAGGGGGAT	0.647																																						dbGAP											0													33.0	40.0	38.0					1																	228529166		2118	4210	6328	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17885T>C	1.37:g.228529166T>C	ENSP00000409493:p.Val5962Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.V5962A	ENST00000422127.1	37	c.17885	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245296	0.80024	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.6	4.46	0.54185	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.080681	0.49305	D	0.000152	T	0.22859	0.0552	L	0.47078	1.49	0.43890	D	0.996517	D;D	0.62365	0.991;0.98	P;P	0.54856	0.723;0.762	T	0.00494	-1.1706	10	0.48119	T	0.1	.	12.8146	0.57658	0.0:0.0:0.1367:0.8633	.	5962;5962	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	A	5962;5962;3596;3081	ENSP00000284548:V5962A;ENSP00000409493:V5962A;ENSP00000355668:V3596A;ENSP00000355670:V3081A	ENSP00000284548:V5962A	V	+	2	0	OBSCN	226595789	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.171000	0.71926	0.941000	0.37499	-0.316000	0.08728	GTG	OBSCN	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000154358		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		9	0.00	0	T	NM_052843		228529166	228529166	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	1.000	C
OCRL	4952	genome.wustl.edu	37	X	128709951	128709951	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:128709951C>T	ENST00000371113.4	+	17	1956	c.1791C>T	c.(1789-1791)tgC>tgT	p.C597C	OCRL_ENST00000357121.5_Silent_p.C597C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	597	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGGTTCCCTGCCATTTTTCTT	0.453																																						dbGAP											0													141.0	136.0	138.0					X																	128709951		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1791C>T	X.37:g.128709951C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.C597	ENST00000371113.4	37	c.1791	CCDS35393.1	X																																																																																			OCRL	-	NULL	ENSG00000122126		0.453	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	523	0.00	0	C	NM_000276		128709951	128709951	+1	no_errors	ENST00000371113	ensembl	human	known	69_37n	silent	245	40.53	167	SNP	1.000	T
TENM1	10178	genome.wustl.edu	37	X	123515042	123515042	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:123515042C>T	ENST00000371130.3	-	31	7585	c.7522G>A	c.(7522-7524)Gaa>Aaa	p.E2508K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.E2515K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2508					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTCCCTCCTTCAAGGCACCGT	0.448																																						dbGAP											0													129.0	123.0	125.0					X																	123515042		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7522G>A	X.37:g.123515042C>T	ENSP00000360171:p.Glu2508Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.E2515K	ENST00000371130.3	37	c.7543	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	3.758	-0.050156	0.07407	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85088	-1.94;-1.91	5.83	5.83	0.93111	.	0.198324	0.53938	D	0.000050	T	0.70141	0.3190	N	0.08118	0	0.44129	D	0.996911	B;B;B	0.31435	0.146;0.146;0.323	B;B;B	0.27380	0.057;0.038;0.079	T	0.70699	-0.4800	10	0.05959	T	0.93	.	19.0991	0.93266	0.0:1.0:0.0:0.0	.	2514;2515;2508	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	2508;2515	ENSP00000360171:E2508K;ENSP00000403954:E2515K	ENSP00000360171:E2508K	E	-	1	0	ODZ1	123342723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.858000	0.55979	2.460000	0.83146	0.600000	0.82982	GAA	ODZ1	-	NULL	ENSG00000009694		0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	413	0.00	0	C	NM_014253		123515042	123515042	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	missense	214	41.85	154	SNP	1.000	T
OCRL	4952	genome.wustl.edu	37	X	128723576	128723576	+	Intron	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:128723576A>G	ENST00000371113.4	+	23	2634				OCRL_ENST00000357121.5_Intron	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGGTGTGCGTATGAATGTGTG	0.473																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2470-246A>G	X.37:g.128723576A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	RNA	SNP	-	NULL	ENST00000371113.4	37	NULL	CCDS35393.1	X																																																																																			OCRL	-	-	ENSG00000122126		0.473	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	22	0.00	0	A	NM_000276		128723576	128723576	+1	no_errors	ENST00000463271	ensembl	human	known	69_37n	rna	8	52.94	9	SNP	0.000	G
TENM2	57451	genome.wustl.edu	37	5	167545408	167545408	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:167545408A>G	ENST00000518659.1	+	10	1964	c.1925A>G	c.(1924-1926)gAt>gGt	p.D642G	TENM2_ENST00000520394.1_Missense_Mutation_p.D410G|TENM2_ENST00000403607.2_Missense_Mutation_p.D475G|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.D642G|TENM2_ENST00000519204.1_Missense_Mutation_p.D521G	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	642	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGTGCATCGATCCTTCCTGC	0.592																																						dbGAP											0													149.0	154.0	153.0					5																	167545408		2132	4242	6374	-	-	-	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1925A>G	5.37:g.167545408A>G	ENSP00000429430:p.Asp642Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D642G	ENST00000518659.1	37	c.1925		5	.	.	.	.	.	.	.	.	.	.	A	22.9	4.352225	0.82132	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.09538	4.01;2.97;4.01;4.01;4.01	4.92	4.92	0.64577	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.087691	0.85682	D	0.000000	T	0.31638	0.0803	M	0.79123	2.44	0.54753	D	0.999982	D;P;D	0.61080	0.989;0.873;0.982	P;P;D	0.63113	0.887;0.517;0.911	T	0.07481	-1.0770	10	0.59425	D	0.04	.	14.5822	0.68300	1.0:0.0:0.0:0.0	.	642;410;521	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	G	642;642;521;410;475	ENSP00000429430:D642G;ENSP00000438635:D642G;ENSP00000428964:D521G;ENSP00000427874:D410G;ENSP00000384905:D475G	ENSP00000384905:D475G	D	+	2	0	ODZ2	167477986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	1.849000	0.53698	0.533000	0.62120	GAT	ODZ2	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000145934		0.592	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	237	0.00	0	A	NM_001122679		167545408	167545408	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	164	40.58	112	SNP	1.000	G
OGN	4969	genome.wustl.edu	37	9	95155439	95155439	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:95155439T>G	ENST00000262551.4	-	4	776	c.356A>C	c.(355-357)aAg>aCg	p.K119T	OGN_ENST00000468743.1_5'Flank|CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.K119T	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	119					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GGCTGATTCCTTTGGTAAGGG	0.378																																						dbGAP											0													132.0	115.0	121.0					9																	95155439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.356A>C	9.37:g.95155439T>G	ENSP00000262551:p.Lys119Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K119T	ENST00000262551.4	37	c.356	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194605	0.78902	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	D;D;D	0.83163	-1.69;-1.69;-1.69	4.98	4.98	0.66077	Leucine-rich repeat-containing N-terminal (1);	0.045942	0.85682	D	0.000000	D	0.89438	0.6715	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.947;0.974	D	0.87654	0.2530	10	0.23302	T	0.38	.	14.9822	0.71319	0.0:0.0:0.0:1.0	.	177;119	B4DI63;P20774	.;MIME_HUMAN	T	119;119;177	ENSP00000262551:K119T;ENSP00000364711:K119T;ENSP00000396709:K177T	ENSP00000262551:K119T	K	-	2	0	OGN	94195260	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.261000	0.72509	2.022000	0.59522	0.528000	0.53228	AAG	OGN	-	NULL	ENSG00000106809		0.378	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	162	0.00	0	T	NM_024416		95155439	95155439	-1	no_errors	ENST00000262551	ensembl	human	known	69_37n	missense	85	44.44	68	SNP	1.000	G
OLIG3	167826	genome.wustl.edu	37	6	137814987	137814987	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:137814987G>A	ENST00000367734.2	-	1	544	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	107	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCATGACTTCGCGCAGCCCGT	0.612																																						dbGAP											0													122.0	92.0	103.0					6																	137814987		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.321C>T	6.37:g.137814987G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8Q0	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R107	ENST00000367734.2	37	c.321	CCDS5186.1	6																																																																																			OLIG3	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000177468		0.612	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG3	HGNC	protein_coding	OTTHUMT00000042405.1	42	0.00	0	G	NM_175747		137814987	137814987	-1	no_errors	ENST00000367734	ensembl	human	known	69_37n	silent	22	35.29	12	SNP	0.998	A
OPRM1	4988	genome.wustl.edu	37	6	154410918	154410918	+	Intron	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:154410918A>G	ENST00000330432.7	+	2	527				OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000229768.5_Intron|OPRM1_ENST00000428397.2_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATTTTACACTAGTGTCTTTTA	0.348																																						dbGAP											0													34.0	31.0	32.0					6																	154410918		1911	4162	6073	-	-	-	SO:0001627	intron_variant	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.291-43A>G	6.37:g.154410918A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	RNA	SNP	-	NULL	ENST00000330432.7	37	NULL	CCDS55070.1	6																																																																																			OPRM1	-	-	ENSG00000112038		0.348	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	185	0.00	0	A	NM_000914		154410918	154410918	+1	no_errors	ENST00000522382	ensembl	human	known	69_37n	rna	114	43.96	91	SNP	0.000	G
OR10G8	219869	genome.wustl.edu	37	11	123900673	123900673	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:123900673G>T	ENST00000431524.1	+	1	377	c.344G>T	c.(343-345)aGg>aTg	p.R115M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	115						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTCCTCTACAGGGTCATGTCC	0.552																																						dbGAP											0													148.0	140.0	143.0					11																	123900673		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.344G>T	11.37:g.123900673G>T	ENSP00000389072:p.Arg115Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R115M	ENST00000431524.1	37	c.344	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.973630	0.00452	.	.	ENSG00000234560	ENST00000431524	T	0.36157	1.27	3.04	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	0.127555	0.35436	N	0.003215	T	0.10937	0.0267	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25984	-1.0116	10	0.66056	D	0.02	.	7.1978	0.25864	0.0:0.725:0.172:0.103	.	115	Q8NGN5	O10G8_HUMAN	M	115	ENSP00000389072:R115M	ENSP00000389072:R115M	R	+	2	0	OR10G8	123405883	0.001000	0.12720	0.558000	0.28319	0.042000	0.13812	1.249000	0.32839	0.157000	0.19338	-0.716000	0.03619	AGG	OR10G8	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000234560		0.552	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	398	0.00	0	G	NM_001004464		123900673	123900673	+1	no_errors	ENST00000431524	ensembl	human	known	69_37n	missense	261	38.79	166	SNP	0.002	T
OR10R2	343406	genome.wustl.edu	37	1	158449716	158449716	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:158449716delC	ENST00000368152.1	+	1	49	c.49delC	c.(49-51)cccfs	p.P18fs	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	18						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)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTACTTCTTTCCCCCTTTGCA	0.428																																						dbGAP											0													180.0	174.0	176.0					1																	158449716		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.49delC	1.37:g.158449716delC	ENSP00000357134:p.Pro18fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWM8|Q6IFS1|Q96R61	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P18fs	ENST00000368152.1	37	c.49	CCDS30898.1	1																																																																																			OR10R2	-	NULL	ENSG00000198965		0.428	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	375	0.00	0	C	NM_001004472		158449716	158449716	+1	no_errors	ENST00000368152	ensembl	human	known	69_37n	frame_shift_del	493	19.62	124	DEL	0.002	-
OR11H1	81061	genome.wustl.edu	37	22	16449039	16449039	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:16449039A>G	ENST00000252835.4	-	1	766	c.766T>C	c.(766-768)Tgt>Cgt	p.C256R		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TGAGACCCACAGGTAGAGAAG	0.443																																						dbGAP											0													78.0	79.0	79.0					22																	16449039		2194	4276	6470	-	-	-	SO:0001583	missense	0			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.766T>C	22.37:g.16449039A>G	ENSP00000252835:p.Cys256Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C256R	ENST00000252835.4	37	c.766	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	a	14.16	2.453354	0.43531	.	.	ENSG00000130538	ENST00000252835	T	0.00372	7.73	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000340	T	0.01287	0.0042	H	0.96111	3.77	0.48632	D	0.999684	D	0.89917	1.0	D	0.76071	0.987	T	0.44982	-0.9292	10	0.87932	D	0	.	7.8049	0.29195	1.0:0.0:0.0:0.0	.	256	Q8NG94	O11H1_HUMAN	R	256	ENSP00000252835:C256R	ENSP00000252835:C256R	C	-	1	0	OR11H1	14829039	0.999000	0.42202	0.957000	0.39632	0.888000	0.51559	4.411000	0.59781	0.826000	0.34661	0.302000	0.19851	TGT	OR11H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000130538		0.443	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	353	0.00	0	A	NM_001005239		16449039	16449039	-1	no_errors	ENST00000252835	ensembl	human	known	69_37n	missense	298	40.99	207	SNP	1.000	G
OR14C36	127066	genome.wustl.edu	37	1	248512932	248512932	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:248512932A>G	ENST00000317861.1	+	1	856	c.856A>G	c.(856-858)Att>Gtt	p.I286V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTTTAACCCTATTATTTACAG	0.408																																						dbGAP											0													73.0	84.0	80.0					1																	248512932		2200	4288	6488	-	-	-	SO:0001583	missense	0			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.856A>G	1.37:g.248512932A>G	ENSP00000324534:p.Ile286Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I286V	ENST00000317861.1	37	c.856	CCDS31112.1	1	.	.	.	.	.	.	.	.	.	.	A	5.875	0.345668	0.11126	.	.	ENSG00000177174	ENST00000317861	T	0.40756	1.02	3.81	-3.93	0.04143	GPCR, rhodopsin-like superfamily (1);	0.357151	0.19519	N	0.112329	T	0.20495	0.0493	N	0.17723	0.515	0.09310	N	1	B	0.23735	0.09	B	0.23574	0.047	T	0.11251	-1.0595	10	0.32370	T	0.25	.	6.4422	0.21856	0.4432:0.1402:0.4166:0.0	.	286	Q8NHC7	O14CZ_HUMAN	V	286	ENSP00000324534:I286V	ENSP00000324534:I286V	I	+	1	0	OR14C36	246579555	0.000000	0.05858	0.007000	0.13788	0.174000	0.22865	-2.747000	0.00794	-0.501000	0.06605	0.324000	0.21423	ATT	OR14C36	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177174		0.408	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	293	0.00	0	A	NM_001001918		248512932	248512932	+1	no_errors	ENST00000317861	ensembl	human	known	69_37n	missense	183	26.80	67	SNP	0.011	G
OR2A14	135941	genome.wustl.edu	37	7	143826872	143826872	+	Missense_Mutation	SNP	G	G	A	rs565673957		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:143826872G>A	ENST00000408899.2	+	1	722	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CATCCTGGCCGCCATCTTGAG	0.607																																						dbGAP											0													115.0	119.0	117.0					7																	143826872		2055	4203	6258	-	-	-	SO:0001583	missense	0				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.667G>A	7.37:g.143826872G>A	ENSP00000386137:p.Ala223Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF41|Q8NGT8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A223T	ENST00000408899.2	37	c.667	CCDS43672.1	7	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238609	0.22711	.	.	ENSG00000221938	ENST00000408899	T	0.00188	8.59	4.18	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32314	U	0.006271	T	0.00109	0.0003	N	0.04686	-0.185	0.21473	N	0.999677	P	0.36789	0.57	B	0.39094	0.29	T	0.20273	-1.0280	10	0.29301	T	0.29	-11.7295	6.9594	0.24590	0.0954:0.0:0.7324:0.1722	.	223	Q96R47	O2A14_HUMAN	T	223	ENSP00000386137:A223T	ENSP00000386137:A223T	A	+	1	0	OR2A14	143457805	0.000000	0.05858	0.526000	0.27913	0.010000	0.07245	0.042000	0.13949	0.495000	0.27882	0.561000	0.74099	GCC	OR2A14	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221938		0.607	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	HGNC	protein_coding	OTTHUMT00000349980.1	222	0.00	0	G			143826872	143826872	+1	no_errors	ENST00000408899	ensembl	human	known	69_37n	missense	125	37.19	74	SNP	0.448	A
OR2A14	135941	genome.wustl.edu	37	7	143826903	143826903	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:143826903G>A	ENST00000408899.2	+	1	753	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGGGAGGGCCGCAGAAAGGCC	0.627																																						dbGAP											0													107.0	111.0	110.0					7																	143826903		2051	4205	6256	-	-	-	SO:0001583	missense	0				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.698G>A	7.37:g.143826903G>A	ENSP00000386137:p.Arg233His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF41|Q8NGT8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R233H	ENST00000408899.2	37	c.698	CCDS43672.1	7	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233982	0.22626	.	.	ENSG00000221938	ENST00000408899	T	0.00333	8.07	4.18	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31909	U	0.006869	T	0.00496	0.0016	M	0.87038	2.855	0.09310	N	1	P	0.40660	0.726	P	0.46825	0.528	T	0.22941	-1.0202	10	0.72032	D	0.01	-12.5177	8.5569	0.33487	0.1944:0.0:0.8056:0.0	.	233	Q96R47	O2A14_HUMAN	H	233	ENSP00000386137:R233H	ENSP00000386137:R233H	R	+	2	0	OR2A14	143457836	0.001000	0.12720	0.543000	0.28128	0.342000	0.28953	1.050000	0.30404	0.514000	0.28300	0.561000	0.74099	CGC	OR2A14	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221938		0.627	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	HGNC	protein_coding	OTTHUMT00000349980.1	186	0.00	0	G			143826903	143826903	+1	no_errors	ENST00000408899	ensembl	human	known	69_37n	missense	94	44.05	74	SNP	0.003	A
OR2G3	81469	genome.wustl.edu	37	1	247769170	247769170	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:247769170G>A	ENST00000320002.2	+	1	315	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GATCACTTACGGTGGTTGTGT	0.473																																						dbGAP											0													299.0	266.0	278.0					1																	247769170		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.283G>A	1.37:g.247769170G>A	ENSP00000326301:p.Gly95Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G95S	ENST00000320002.2	37	c.283	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	G	3.405	-0.121416	0.06838	.	.	ENSG00000177476	ENST00000320002	T	0.01963	4.53	3.8	0.79	0.18613	GPCR, rhodopsin-like superfamily (1);	0.194896	0.24158	N	0.041012	T	0.01592	0.0051	L	0.35414	1.06	0.09310	N	1	B	0.29341	0.242	B	0.23419	0.046	T	0.47586	-0.9106	10	0.26408	T	0.33	.	3.6616	0.08241	0.3323:0.1888:0.4788:0.0	.	95	Q8NGZ4	OR2G3_HUMAN	S	95	ENSP00000326301:G95S	ENSP00000326301:G95S	G	+	1	0	OR2G3	245835793	0.000000	0.05858	0.003000	0.11579	0.111000	0.19643	-1.390000	0.02528	0.375000	0.24679	0.492000	0.49549	GGT	OR2G3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000177476		0.473	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	746	0.40	3	G			247769170	247769170	+1	no_errors	ENST00000320002	ensembl	human	known	69_37n	missense	722	31.47	332	SNP	0.000	A
OR2G3	81469	genome.wustl.edu	37	1	247769658	247769658	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:247769658C>T	ENST00000320002.2	+	1	803	c.771C>T	c.(769-771)taC>taT	p.Y257Y	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y257*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCATAATCTACGTGTACCTGC	0.473																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											103.0	97.0	99.0					1																	247769658		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.771C>T	1.37:g.247769658C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN64|Q5JQT1|Q6IF45	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y257	ENST00000320002.2	37	c.771	CCDS31093.1	1																																																																																			OR2G3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177476		0.473	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	187	0.00	0	C			247769658	247769658	+1	no_errors	ENST00000320002	ensembl	human	known	69_37n	silent	169	23.77	53	SNP	0.101	T
OR2J1	442185	genome.wustl.edu	37	6	29069443	29069443	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:29069443T>C	ENST00000377171.3	+	1	1058	c.724T>C	c.(724-726)Tgt>Cgt	p.C242R				Q9GZK6	OR2J1_HUMAN	olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|lung(6)	7						GCTTAGGACATGTGGAGCCCA	0.463																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					6p22.2-p21.31	2012-08-09	2011-08-30	2004-05-28	ENSG00000204702	ENSG00000204702		"""GPCR / Class A : Olfactory receptors"""	8259	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily J, member 1 pseudogene"", ""olfactory receptor, family 2, subfamily J, member 1"""	OR2J1P			Standard	NG_004683		Approved	OR6-5, hs6M1-4, dJ80I19.2		Q9GZK6	OTTHUMG00000031280	ENST00000377171.3:c.724T>C	6.37:g.29069443T>C	ENSP00000366376:p.Cys242Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AAS1|B0V1T2|Q9GZK1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C242R	ENST00000377171.3	37	c.724		6	.	.	.	.	.	.	.	.	.	.	T	13.27	2.188512	0.38609	.	.	ENSG00000204702	ENST00000377171	T	0.00372	7.73	2.55	2.55	0.30701	.	.	.	.	.	T	0.00271	0.0008	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77851	-0.2434	6	0.87932	D	0	.	10.4118	0.44299	0.0:0.0:0.0:1.0	.	.	.	.	R	242	ENSP00000366376:C242R	ENSP00000366376:C242R	C	+	1	0	OR2J1	29177422	0.999000	0.42202	0.761000	0.31378	0.401000	0.30781	3.946000	0.56644	1.158000	0.42547	0.482000	0.46254	TGT	OR2J1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000204702		0.463	OR2J1-001	KNOWN	basic|appris_principal	protein_coding	OR2J1	HGNC	protein_coding	OTTHUMT00000076612.2	373	0.00	0	T	NG_004683		29069443	29069443	+1	no_errors	ENST00000377171	ensembl	human	known	69_37n	missense	202	38.23	125	SNP	0.994	C
OR2W5	441932	genome.wustl.edu	37	1	247655209	247655209	+	RNA	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:247655209T>C	ENST00000522351.1	+	0	840							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							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(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TACGTGTACCTGAAGCCGGCC	0.522																																						dbGAP											0													130.0	114.0	120.0					1																	247655209		2203	4300	6503	-	-	-			0					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655209T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH85	RNA	SNP	-	NULL	ENST00000522351.1	37	NULL		1																																																																																			OR2W5	-	-	ENSG00000203664		0.522	OR2W5-002	KNOWN	basic	processed_transcript	OR2W5	HGNC	pseudogene	OTTHUMT00000375789.1	179	0.00	0	T	NM_001004698		247655209	247655209	+1	no_errors	ENST00000522351	ensembl	human	known	69_37n	rna	197	29.79	84	SNP	0.920	C
OR3A1	4994	genome.wustl.edu	37	17	3195086	3195086	+	Missense_Mutation	SNP	C	C	T	rs540886927		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:3195086C>T	ENST00000323404.1	-	1	790	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	264					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGAACCCAGTCGCATATAGTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20862	0.0		0.0	False		,,,				2504	0.001				GBM(20;287 516 18743 28660 36594)	dbGAP											0													108.0	107.0	107.0					17																	3195086		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.791G>A	17.37:g.3195086C>T	ENSP00000313803:p.Arg264Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VB06|Q6IFM4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R264Q	ENST00000323404.1	37	c.791	CCDS11023.1	17	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802731	0.31869	.	.	ENSG00000180090	ENST00000323404	T	0.37235	1.21	4.8	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.145914	0.31358	N	0.007800	T	0.21307	0.0513	N	0.25647	0.755	0.09310	N	1	P	0.43231	0.801	B	0.39152	0.292	T	0.08310	-1.0728	10	0.23891	T	0.37	-7.0777	8.1375	0.31063	0.0:0.7602:0.0:0.2398	.	264	P47881	OR3A1_HUMAN	Q	264	ENSP00000313803:R264Q	ENSP00000313803:R264Q	R	-	2	0	OR3A1	3141836	0.000000	0.05858	0.217000	0.23759	0.983000	0.72400	0.074000	0.14662	1.384000	0.46424	0.650000	0.86243	CGA	OR3A1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180090		0.448	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A1	HGNC	protein_coding	OTTHUMT00000207302.2	244	0.00	0	C			3195086	3195086	-1	no_errors	ENST00000323404	ensembl	human	known	69_37n	missense	166	40.21	113	SNP	0.000	T
OR4C12	283093	genome.wustl.edu	37	11	50003192	50003192	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:50003192G>A	ENST00000335238.4	-	1	879	c.846C>T	c.(844-846)ccC>ccT	p.P282P		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTAGACCACGGGATTTAACA	0.393																																						dbGAP											0													67.0	62.0	64.0					11																	50003192		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.846C>T	11.37:g.50003192G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNF0|Q6IF49	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P282	ENST00000335238.4	37	c.846	CCDS31496.1	11																																																																																			OR4C12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000221954		0.393	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	256	0.00	0	G	NM_001005270		50003192	50003192	-1	no_errors	ENST00000335238	ensembl	human	known	69_37n	silent	116	42.57	86	SNP	0.857	A
OR4F15	390649	genome.wustl.edu	37	15	102359003	102359003	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:102359003T>C	ENST00000332238.4	+	1	638	c.614T>C	c.(613-615)cTc>cCc	p.L205P		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	205						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)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AATAGTGGACTCATTTCTGTG	0.453																																						dbGAP											0													240.0	221.0	227.0					15																	102359003		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.614T>C	15.37:g.102359003T>C	ENSP00000333184:p.Leu205Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L205P	ENST00000332238.4	37	c.614	CCDS32342.1	15	.	.	.	.	.	.	.	.	.	.	.	15.81	2.942355	0.53079	.	.	ENSG00000182854	ENST00000332238	T	0.44881	0.91	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.363979	0.23539	N	0.047094	T	0.58850	0.2151	M	0.74389	2.26	0.22171	N	0.99932	D	0.56521	0.976	P	0.62649	0.905	T	0.56786	-0.7921	9	.	.	.	.	8.9638	0.35863	0.1648:0.0:0.0:0.8351	.	205	Q8NGB8	O4F15_HUMAN	P	205	ENSP00000333184:L205P	.	L	+	2	0	OR4F15	100176526	0.530000	0.26330	0.038000	0.18304	0.994000	0.84299	2.795000	0.47861	2.340000	0.79590	0.528000	0.53228	CTC	OR4F15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000182854		0.453	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F15	HGNC	protein_coding	OTTHUMT00000417594.1	663	0.00	0	T	NM_001001674		102359003	102359003	+1	no_errors	ENST00000332238	ensembl	human	known	69_37n	missense	386	38.83	245	SNP	0.014	C
OR4M1	441670	genome.wustl.edu	37	14	20248568	20248568	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:20248568T>C	ENST00000315957.4	+	1	168	c.87T>C	c.(85-87)gtT>gtC	p.V29V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTATTTGTTATATTTCTAT	0.398																																						dbGAP											0													183.0	198.0	193.0					14																	20248568		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.87T>C	14.37:g.20248568T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH18|Q6IFA3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V29	ENST00000315957.4	37	c.87	CCDS32021.1	14																																																																																			OR4M1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000176299		0.398	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	1084	0.00	0	T			20248568	20248568	+1	no_errors	ENST00000315957	ensembl	human	known	69_37n	silent	819	19.23	195	SNP	0.991	C
OR4K13	390433	genome.wustl.edu	37	14	20502473	20502473	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:20502473A>G	ENST00000315693.2	-	1	446	c.445T>C	c.(445-447)Tat>Cat	p.Y149H	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCAACTGCATAGGAGGATAAC	0.468																																						dbGAP											0													159.0	155.0	157.0					14																	20502473		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.445T>C	14.37:g.20502473A>G	ENSP00000319322:p.Tyr149His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF13	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y149H	ENST00000315693.2	37	c.445	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	11.26	1.585226	0.28268	.	.	ENSG00000176253	ENST00000315693	T	0.38401	1.14	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.455228	0.16336	U	0.218906	T	0.52805	0.1757	M	0.71036	2.16	0.09310	N	1	D	0.58970	0.984	P	0.59115	0.852	T	0.43718	-0.9374	10	0.87932	D	0	.	11.3118	0.49368	1.0:0.0:0.0:0.0	.	149	Q8NH42	OR4KD_HUMAN	H	149	ENSP00000319322:Y149H	ENSP00000319322:Y149H	Y	-	1	0	OR4K13	19572313	0.807000	0.29009	0.001000	0.08648	0.005000	0.04900	7.484000	0.81180	1.509000	0.48786	0.421000	0.28195	TAT	OR4K13	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176253		0.468	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	HGNC	protein_coding	OTTHUMT00000410344.1	349	0.00	0	A			20502473	20502473	-1	no_errors	ENST00000315693	ensembl	human	known	69_37n	missense	188	42.68	140	SNP	0.025	G
OR51V1	283111	genome.wustl.edu	37	11	5221547	5221547	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:5221547G>T	ENST00000321255.1	-	1	383	c.384C>A	c.(382-384)gcC>gcA	p.A128A		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	128					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCGGTCAAAGGCCATAGTGA	0.453																																						dbGAP											0													59.0	59.0	59.0					11																	5221547		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.384C>A	11.37:g.5221547G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A128	ENST00000321255.1	37	c.384	CCDS31375.1	11																																																																																			OR51V1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176742		0.453	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	216	0.00	0	G	NM_001004760		5221547	5221547	-1	no_errors	ENST00000321255	ensembl	human	known	69_37n	silent	111	33.93	57	SNP	0.959	T
OR56A3	390083	genome.wustl.edu	37	11	5969345	5969345	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:5969345A>G	ENST00000329564.6	+	1	776	c.769A>G	c.(769-771)Acc>Gcc	p.T257A		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTTCAGCACCATCCTTCT	0.522																																						dbGAP											0													234.0	225.0	228.0					11																	5969345		2191	4294	6485	-	-	-	SO:0001583	missense	0				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.769A>G	11.37:g.5969345A>G	ENSP00000331572:p.Thr257Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN77|Q6IFF7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T257A	ENST00000329564.6	37	c.769	CCDS41614.1	11	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004215	0.35320	.	.	ENSG00000184478	ENST00000329564	T	0.36157	1.27	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.102483	0.43260	N	0.000591	T	0.60689	0.2288	M	0.82193	2.58	0.32997	D	0.52575	D	0.60575	0.988	D	0.65874	0.939	T	0.74444	-0.3663	10	0.56958	D	0.05	-68.4737	13.7146	0.62689	1.0:0.0:0.0:0.0	.	257	Q8NH54	O56A3_HUMAN	A	257	ENSP00000331572:T257A	ENSP00000331572:T257A	T	+	1	0	OR56A3	5925921	0.000000	0.05858	1.000000	0.80357	0.174000	0.22865	0.310000	0.19356	2.101000	0.63845	0.529000	0.55759	ACC	OR56A3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184478		0.522	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR56A3	HGNC	protein_coding	OTTHUMT00000383753.1	411	0.00	0	A	NM_001003443		5969345	5969345	+1	no_errors	ENST00000329564	ensembl	human	known	69_37n	missense	341	33.27	170	SNP	1.000	G
OR6C70	390327	genome.wustl.edu	37	12	55863619	55863619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:55863619delA	ENST00000327335.4	-	1	303	c.304delT	c.(304-306)tacfs	p.Y102fs	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AAGAATATGTAAAAAAACAAC	0.393																																						dbGAP											0													65.0	66.0	65.0					12																	55863619		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.304delT	12.37:g.55863619delA	ENSP00000329153:p.Tyr102fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y102fs	ENST00000327335.4	37	c.304	CCDS31825.1	12																																																																																			OR6C70	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000184954		0.393	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C70	HGNC	protein_coding	OTTHUMT00000411820.1	185	0.00	0	A			55863619	55863619	-1	no_errors	ENST00000327335	ensembl	human	known	69_37n	frame_shift_del	85	39.44	56	DEL	0.001	-
OR6T1	219874	genome.wustl.edu	37	11	123814090	123814090	+	Silent	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:123814090T>A	ENST00000321252.2	-	1	490	c.456A>T	c.(454-456)ggA>ggT	p.G152G		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCCAGAGGAATCCAGCTAGCC	0.562																																						dbGAP											0													67.0	60.0	62.0					11																	123814090		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.456A>T	11.37:g.123814090T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G152	ENST00000321252.2	37	c.456	CCDS31700.1	11																																																																																			OR6T1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181499		0.562	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	HGNC	protein_coding	OTTHUMT00000387264.1	81	0.00	0	T	NM_001005187		123814090	123814090	-1	no_errors	ENST00000321252	ensembl	human	known	69_37n	silent	39	40.91	27	SNP	0.000	A
OR6W1P	89883	genome.wustl.edu	37	7	142759911	142759911	+	RNA	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:142759911C>T	ENST00000496192.1	-	0	615					NR_002140.1				olfactory receptor, family 6, subfamily W, member 1 pseudogene											central_nervous_system(1)|endometrium(2)|lung(1)|skin(1)	5						GCATGGTGGTCAGCACAAAGA	0.572																																						dbGAP											0																																										-	-	-			0			AF286696		7q34	2014-03-20		2004-03-10	ENSG00000179420	ENSG00000179420		"""GPCR / Class A : Olfactory receptors"""	15091	pseudogene	pseudogene				OR6W1			Standard	NR_002140		Approved	sdolf	uc003wce.1		OTTHUMG00000158389		7.37:g.142759911C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000496192.1	37	NULL		7																																																																																			OR6W1P	-	-	ENSG00000179420		0.572	OR6W1P-002	KNOWN	basic	processed_transcript	OR6W1P	HGNC	pseudogene	OTTHUMT00000350947.1	20	0.00	0	C			142759911	142759911	-1	no_errors	ENST00000496192	ensembl	human	known	69_37n	rna	8	50.00	8	SNP	0.969	T
OR7D2	162998	genome.wustl.edu	37	19	9296843	9296843	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:9296843C>A	ENST00000344248.2	+	1	565	c.386C>A	c.(385-387)cCt>cAt	p.P129H		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	129					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTCTGCCACCCTCTGCACTAT	0.507																																						dbGAP											0													164.0	154.0	158.0					19																	9296843		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.386C>A	19.37:g.9296843C>A	ENSP00000345563:p.Pro129His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.P129H	ENST00000344248.2	37	c.386	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	C	16.27	3.077041	0.55753	.	.	ENSG00000188000	ENST00000344248	T	0.01918	4.56	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	U	0.001304	T	0.22936	0.0554	H	0.99379	4.54	0.38456	D	0.947091	D	0.89917	1.0	D	0.70227	0.968	T	0.54330	-0.8310	10	0.87932	D	0	.	11.9872	0.53155	0.0:1.0:0.0:0.0	.	129	Q96RA2	OR7D2_HUMAN	H	129	ENSP00000345563:P129H	ENSP00000345563:P129H	P	+	2	0	OR7D2	9157843	0.994000	0.37717	1.000000	0.80357	0.520000	0.34377	3.759000	0.55227	1.583000	0.49898	0.511000	0.50034	CCT	OR7D2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000188000		0.507	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	456	0.22	1	C			9296843	9296843	+1	no_errors	ENST00000344248	ensembl	human	known	69_37n	missense	320	38.58	201	SNP	1.000	A
OR8S1	341568	genome.wustl.edu	37	12	48919685	48919685	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:48919685A>C	ENST00000310194.1	+	1	271	c.271A>C	c.(271-273)Acc>Ccc	p.T91P	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						ACAGAGGAAAACCATTTCAGT	0.512																																						dbGAP											0													113.0	109.0	110.0					12																	48919685		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.271A>C	12.37:g.48919685A>C	ENSP00000310632:p.Thr91Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T91P	ENST00000310194.1	37	c.271	CCDS31789.1	12	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038449	0.55003	.	.	ENSG00000197376	ENST00000310194	T	0.01821	4.62	5.03	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000715	T	0.05410	0.0143	M	0.72894	2.215	0.09310	N	1	P	0.52842	0.956	P	0.58266	0.836	T	0.22417	-1.0217	10	0.72032	D	0.01	-34.796	4.1674	0.10313	0.645:0.176:0.179:0.0	.	91	Q8NH09	OR8S1_HUMAN	P	91	ENSP00000310632:T91P	ENSP00000310632:T91P	T	+	1	0	OR8S1	47205952	0.000000	0.05858	0.512000	0.27736	0.910000	0.53928	0.538000	0.23160	0.369000	0.24510	0.533000	0.62120	ACC	OR8S1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197376		0.512	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	HGNC	protein_coding	OTTHUMT00000406881.1	186	0.00	0	A			48919685	48919685	+1	no_errors	ENST00000310194	ensembl	human	known	69_37n	missense	141	35.00	77	SNP	0.191	C
OR9A2	135924	genome.wustl.edu	37	7	142724058	142724058	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:142724058C>T	ENST00000350513.2	-	1	224	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TGGGGGACTGCAGACGTTTAT	0.438																																						dbGAP											0													130.0	133.0	132.0					7																	142724058		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.162G>A	7.37:g.142724058C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH51|Q6IF71|Q8NGD9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L54	ENST00000350513.2	37	c.162	CCDS34767.1	7																																																																																			OR9A2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000179468		0.438	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A2	HGNC	protein_coding	OTTHUMT00000350862.1	356	0.00	0	C			142724058	142724058	-1	no_errors	ENST00000350513	ensembl	human	known	69_37n	silent	163	39.85	108	SNP	0.149	T
OSGEPL1	64172	genome.wustl.edu	37	2	190618903	190618903	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:190618903T>C	ENST00000264151.5	-	4	880	c.778A>G	c.(778-780)Act>Gct	p.T260A	OSGEPL1_ENST00000519810.1_Missense_Mutation_p.T260A|Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.T260A	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ATTTTATCAGTAACGTGTTGA	0.308																																						dbGAP											0													58.0	57.0	57.0					2																	190618903		1809	4079	5888	-	-	-	SO:0001583	missense	0			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.778A>G	2.37:g.190618903T>C	ENSP00000264151:p.Thr260Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_M22,prints_Peptidase_M22_subgr,tigrfam_Peptidase_M22_subgr	p.T260A	ENST00000264151.5	37	c.778	CCDS46472.1	2	.	.	.	.	.	.	.	.	.	.	T	0.657	-0.807282	0.02819	.	.	ENSG00000128694	ENST00000264151;ENST00000519810;ENST00000522700;ENST00000520350	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.34	-5.03	0.02973	Peptidase M22, glycoprotease (1);	0.844629	0.11060	N	0.604052	T	0.13329	0.0323	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39603	-0.9606	10	0.08599	T	0.76	-0.2411	11.8675	0.52501	0.0:0.6832:0.1207:0.1962	.	260	Q9H4B0	OSGP2_HUMAN	A	260;260;260;113	ENSP00000264151:T260A;ENSP00000428859:T260A;ENSP00000429697:T260A;ENSP00000430062:T113A	ENSP00000264151:T260A	T	-	1	0	OSGEPL1	190327148	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.155000	0.10115	-0.910000	0.03847	-0.299000	0.09455	ACT	OSGEPL1	-	pfam_Peptidase_M22,tigrfam_Peptidase_M22_subgr	ENSG00000128694		0.308	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSGEPL1	HGNC	protein_coding	OTTHUMT00000377257.1	89	0.00	0	T	NM_022353		190618903	190618903	-1	no_errors	ENST00000264151	ensembl	human	known	69_37n	missense	49	46.74	43	SNP	0.000	C
OTUD4	54726	genome.wustl.edu	37	4	146095895	146095895	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:146095895A>G	ENST00000447906.2	-	2	348	c.161T>C	c.(160-162)gTa>gCa	p.V54A	OTUD4_ENST00000454497.2_5'UTR|OTUD4_ENST00000509620.2_5'UTR|OTUD4_ENST00000296579.6_5'UTR|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	54	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AGAGTGCAATACCTAAAAAGA	0.348																																						dbGAP											0													58.0	54.0	55.0					4																	146095895		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.160-1T>C	4.37:g.146095895A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.V54A	ENST00000447906.2	37	c.161		4	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262235	0.80358	.	.	ENSG00000164164	ENST00000447906	T	0.49720	0.77	5.62	5.62	0.85841	.	.	.	.	.	T	0.63022	0.2476	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66610	-0.5880	6	0.72032	D	0.01	-8.9673	14.053	0.64749	1.0:0.0:0.0:0.0	.	.	.	.	A	54	ENSP00000395487:V54A	ENSP00000395487:V54A	V	-	2	0	OTUD4	146315345	1.000000	0.71417	0.972000	0.41901	0.826000	0.46750	7.152000	0.77419	2.255000	0.74692	0.533000	0.62120	GTA	OTUD4	-	pfam_OTU,pfscan_OTU	ENSG00000164164		0.348	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	82	0.00	0	A	NM_017493	Missense_Mutation	146095895	146095895	-1	no_errors	ENST00000447906	ensembl	human	known	69_37n	missense	52	35.80	29	SNP	0.993	G
P4HA2	8974	genome.wustl.edu	37	5	131543571	131543571	+	Missense_Mutation	SNP	G	G	A	rs199899764		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:131543571G>A	ENST00000401867.1	-	9	1478	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	P4HA2_ENST00000360568.3_Missense_Mutation_p.R304C|P4HA2_ENST00000379104.2_Missense_Mutation_p.R304C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R304C|P4HA2_ENST00000379086.1_Missense_Mutation_p.R304C|P4HA2_ENST00000379100.2_Missense_Mutation_p.R304C			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	304					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TTCTGTCTACGGGGTGTCTGG	0.582																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	dbGAP											0													122.0	126.0	125.0					5																	131543571		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.910C>T	5.37:g.131543571G>A	ENSP00000384999:p.Arg304Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R304C	ENST00000401867.1	37	c.910	CCDS4151.1	5	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639022	0.67130	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.87	4.04	0.47022	.	0.457757	0.26734	N	0.022767	T	0.65626	0.2709	M	0.85373	2.75	0.49798	D	0.999823	P;D	0.55605	0.952;0.972	P;P	0.54100	0.556;0.742	T	0.73442	-0.3981	10	0.87932	D	0	-17.1351	15.4471	0.75238	0.0:0.0:0.746:0.254	.	304;304	O15460;O15460-2	P4HA2_HUMAN;.	C	304	ENSP00000384999:R304C;ENSP00000368379:R304C;ENSP00000166534:R304C;ENSP00000353772:R304C;ENSP00000368398:R304C;ENSP00000368394:R304C	ENSP00000166534:R304C	R	-	1	0	P4HA2	131571470	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.659000	0.46741	0.881000	0.35993	0.655000	0.94253	CGT	P4HA2	-	NULL	ENSG00000072682		0.582	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P4HA2	HGNC	protein_coding	OTTHUMT00000132653.4	52	0.00	0	G	NM_004199		131543571	131543571	-1	no_errors	ENST00000166534	ensembl	human	known	69_37n	missense	51	12.07	7	SNP	0.945	A
PABPC1L	80336	genome.wustl.edu	37	20	43550280	43550280	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:43550280T>C	ENST00000217073.2	+	6	784	c.784T>C	c.(784-786)Tac>Cac	p.Y262H	PABPC1L_ENST00000217074.4_Missense_Mutation_p.Y262H|PABPC1L_ENST00000537323.1_Missense_Mutation_p.Y262H|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000255136.3_Missense_Mutation_p.Y262H			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	262	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GCGGCTGCTGTACGCGGGCCG	0.627																																						dbGAP											0													100.0	104.0	103.0					20																	43550280		1568	3582	5150	-	-	-	SO:0001583	missense	0			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.784T>C	20.37:g.43550280T>C	ENSP00000217073:p.Tyr262His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VY17	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.Y262H	ENST00000217073.2	37	c.784	CCDS42878.1	20	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544261	0.65198	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	T;T;T;T	0.05786	3.39;3.39;3.39;3.39	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.056031	0.64402	D	0.000001	T	0.13798	0.0334	L	0.35542	1.07	0.80722	D	1	D	0.56521	0.976	P	0.59424	0.857	T	0.01326	-1.1384	10	0.66056	D	0.02	.	14.6939	0.69107	0.0:0.0:0.0:1.0	.	262	Q4VXU2	PAP1L_HUMAN	H	262	ENSP00000217074:Y262H;ENSP00000255136:Y262H;ENSP00000445661:Y262H;ENSP00000217073:Y262H	ENSP00000217073:Y262H	Y	+	1	0	PABPC1L	42983694	1.000000	0.71417	0.302000	0.25058	0.295000	0.27426	8.013000	0.88655	1.961000	0.56991	0.460000	0.39030	TAC	PABPC1L	-	smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000101104		0.627	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PABPC1L	HGNC	protein_coding	OTTHUMT00000127816.2	66	0.00	0	T			43550280	43550280	+1	no_errors	ENST00000217073	ensembl	human	known	69_37n	missense	48	23.81	15	SNP	0.994	C
PABPC5	140886	genome.wustl.edu	37	X	90691598	90691598	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:90691598A>G	ENST00000312600.3	+	2	1236	c.1022A>G	c.(1021-1023)aAa>aGa	p.K341R	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.K177R	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	341	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GGGCAAGGCAAAGGATTTGGT	0.473																																						dbGAP											0													66.0	64.0	65.0					X																	90691598		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1022A>G	X.37:g.90691598A>G	ENSP00000308012:p.Lys341Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.K341R	ENST00000312600.3	37	c.1022	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740145	0.30865	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.16897	2.31;2.31	4.14	2.97	0.34412	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.07863	0.0197	N	0.11313	0.125	0.43652	D	0.996063	P	0.36199	0.543	B	0.34991	0.193	T	0.34551	-0.9824	10	0.31617	T	0.26	.	7.0438	0.25035	0.8867:0.0:0.1132:0.0	.	341	Q96DU9	PABP5_HUMAN	R	177;341;309	ENSP00000362197:K177R;ENSP00000308012:K341R	ENSP00000308012:K341R	K	+	2	0	PABPC5	90578254	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.747000	0.91610	0.737000	0.32582	0.430000	0.28490	AAA	PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000174740		0.473	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	180	0.00	0	A	NM_080832		90691598	90691598	+1	no_errors	ENST00000312600	ensembl	human	known	69_37n	missense	129	36.45	74	SNP	1.000	G
PADI2	11240	genome.wustl.edu	37	1	17395588	17395588	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:17395588T>C	ENST00000375486.4	-	16	2012	c.1949A>G	c.(1948-1950)aAc>aGc	p.N650S	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.N534S	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	650					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCTGCGGACGTTGGTGCCACA	0.607																																						dbGAP											0													105.0	97.0	99.0					1																	17395588		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1949A>G	1.37:g.17395588T>C	ENSP00000364635:p.Asn650Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.N650S	ENST00000375486.4	37	c.1949	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784295	0.90282	.	.	ENSG00000117115	ENST00000375486;ENST00000444885	T;T	0.29917	1.55;1.55	5.32	5.32	0.75619	Protein-arginine deiminase, C-terminal (1);	0.043171	0.85682	D	0.000000	T	0.63593	0.2524	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.72690	-0.4217	10	0.72032	D	0.01	-49.624	14.1139	0.65139	0.0:0.0:0.0:1.0	.	534;650	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	S	650;534	ENSP00000364635:N650S;ENSP00000405894:N534S	ENSP00000364635:N650S	N	-	2	0	PADI2	17268175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.996000	0.57009	2.018000	0.59344	0.533000	0.62120	AAC	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000117115		0.607	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	95	0.00	0	T			17395588	17395588	-1	no_errors	ENST00000375486	ensembl	human	known	69_37n	missense	58	38.95	37	SNP	1.000	C
PAN2	9924	genome.wustl.edu	37	12	56720525	56720525	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:56720525C>T	ENST00000425394.2	-	7	1514	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	PAN2_ENST00000548043.1_Missense_Mutation_p.V380M|PAN2_ENST00000440411.3_Missense_Mutation_p.V380M|PAN2_ENST00000257931.5_Missense_Mutation_p.V380M	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AGTGAGTCCACGAGACACGGC	0.582																																						dbGAP											0													103.0	91.0	95.0					12																	56720525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1138G>A	12.37:g.56720525C>T	ENSP00000401721:p.Val380Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.V380M	ENST00000425394.2	37	c.1138	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214002	0.79352	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.08	5.08	0.68730	.	0.127617	0.51477	D	0.000081	T	0.19127	0.0459	L	0.38953	1.18	0.58432	D	0.99999	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62740	0.884;0.884;0.906	T	0.00217	-1.1909	10	0.49607	T	0.09	-17.4386	17.7745	0.88503	0.0:1.0:0.0:0.0	.	380;380;380	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	M	380	ENSP00000401721:V380M;ENSP00000388231:V380M;ENSP00000257931:V380M;ENSP00000449861:V380M	ENSP00000257931:V380M	V	-	1	0	PAN2	55006792	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	7.525000	0.81892	2.803000	0.96430	0.585000	0.79938	GTG	PAN2	-	NULL	ENSG00000135473		0.582	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	124	0.00	0	C	NM_014871		56720525	56720525	-1	no_errors	ENST00000425394	ensembl	human	known	69_37n	missense	89	41.45	63	SNP	0.998	T
PANX3	116337	genome.wustl.edu	37	11	124489316	124489316	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:124489316G>A	ENST00000284288.2	+	4	731	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	222					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CTTCACCTCCGCCACTTACCT	0.502																																						dbGAP											0													147.0	101.0	116.0					11																	124489316		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.664G>A	11.37:g.124489316G>A	ENSP00000284288:p.Ala222Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Innexin,pfscan_Innexin	p.A222T	ENST00000284288.2	37	c.664	CCDS8447.1	11	.	.	.	.	.	.	.	.	.	.	G	4.242	0.043863	0.08196	.	.	ENSG00000154143	ENST00000284288	T	0.31247	1.5	5.24	3.38	0.38709	.	0.394151	0.30575	N	0.009321	T	0.23846	0.0577	L	0.46157	1.445	0.27096	N	0.962741	B	0.17268	0.021	B	0.20184	0.028	T	0.18429	-1.0337	10	0.24483	T	0.36	-5.2016	7.3244	0.26547	0.1487:0.1379:0.7134:0.0	.	222	Q96QZ0	PANX3_HUMAN	T	222	ENSP00000284288:A222T	ENSP00000284288:A222T	A	+	1	0	PANX3	123994526	1.000000	0.71417	0.270000	0.24601	0.085000	0.17905	4.086000	0.57664	0.611000	0.30052	-0.254000	0.11334	GCC	PANX3	-	pfam_Innexin,pfscan_Innexin	ENSG00000154143		0.502	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX3	HGNC	protein_coding	OTTHUMT00000387064.1	114	0.00	0	G			124489316	124489316	+1	no_errors	ENST00000284288	ensembl	human	known	69_37n	missense	71	31.43	33	SNP	0.545	A
PAPOLA	10914	genome.wustl.edu	37	14	97003381	97003381	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:97003381T>A	ENST00000216277.8	+	12	1319	c.1099T>A	c.(1099-1101)Ttc>Atc	p.F367I	PAPOLA_ENST00000392990.2_Missense_Mutation_p.F367I	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	367					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGCTCCAAACTTCTTTCAAAA	0.338																																					NSCLC(19;254 734 11908 35501 39234)	dbGAP											0													86.0	83.0	84.0					14																	97003381		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1099T>A	14.37:g.97003381T>A	ENSP00000216277:p.Phe367Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.F367I	ENST00000216277.8	37	c.1099	CCDS9946.1	14	.	.	.	.	.	.	.	.	.	.	T	29.0	4.965759	0.92855	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.01	5.01	0.66863	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.86280	0.5895	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.991;0.992;0.995	D	0.90338	0.4357	9	0.87932	D	0	.	15.0248	0.71659	0.0:0.0:0.0:1.0	.	383;383;367	F5H5I8;B4DYF4;P51003	.;.;PAPOA_HUMAN	I	367;383;367;117	.	ENSP00000216277:F367I	F	+	1	0	PAPOLA	96073134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.947000	0.87758	2.002000	0.58637	0.528000	0.53228	TTC	PAPOLA	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	ENSG00000090060		0.338	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	HGNC	protein_coding	OTTHUMT00000413411.2	61	0.00	0	T			97003381	97003381	+1	no_errors	ENST00000216277	ensembl	human	known	69_37n	missense	21	59.62	31	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176564613	176564613	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:176564613G>A	ENST00000367662.3	+	3	3037	c.1873G>A	c.(1873-1875)Gat>Aat	p.D625N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D625N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	625	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAACCGCAGGGATGGGCTCTG	0.597																																						dbGAP											0													71.0	76.0	74.0					1																	176564613		2144	4246	6390	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1873G>A	1.37:g.176564613G>A	ENSP00000356634:p.Asp625Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,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.D625N	ENST00000367662.3	37	c.1873	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817498	0.32145	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.29142	4.84;1.58	5.42	5.42	0.78866	.	0.156269	0.56097	D	0.000036	T	0.40791	0.1131	N	0.21097	0.63	0.50467	D	0.999877	P;D	0.89917	0.518;1.0	B;D	0.73380	0.124;0.98	T	0.10613	-1.0622	10	0.14656	T	0.56	-13.6222	18.8444	0.92198	0.0:0.0:1.0:0.0	.	625;625	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	625	ENSP00000356634:D625N;ENSP00000356633:D625N	ENSP00000356633:D625N	D	+	1	0	PAPPA2	174831236	1.000000	0.71417	0.948000	0.38648	0.088000	0.18126	5.654000	0.67974	2.542000	0.85734	0.650000	0.86243	GAT	PAPPA2	-	NULL	ENSG00000116183		0.597	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	123	0.00	0	G			176564613	176564613	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	142	22.40	41	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176668464	176668464	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:176668464A>C	ENST00000367662.3	+	8	4139	c.2975A>C	c.(2974-2976)gAg>gCg	p.E992A		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	992					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAAAACAAGGAGTCAGTGCAC	0.547																																						dbGAP											0													212.0	212.0	212.0					1																	176668464		2141	4245	6386	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2975A>C	1.37:g.176668464A>C	ENSP00000356634:p.Glu992Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,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.E992A	ENST00000367662.3	37	c.2975	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	A	9.101	1.004254	0.19199	.	.	ENSG00000116183	ENST00000367662	T	0.01629	4.72	5.38	4.23	0.50019	Fibronectin, type III (2);	0.741910	0.14089	N	0.342173	T	0.02807	0.0084	L	0.51422	1.61	0.80722	D	1	B	0.19445	0.036	B	0.20184	0.028	T	0.45862	-0.9232	10	0.48119	T	0.1	-1.846	11.1811	0.48629	0.9271:0.0:0.0729:0.0	.	992	Q9BXP8	PAPP2_HUMAN	A	992	ENSP00000356634:E992A	ENSP00000356634:E992A	E	+	2	0	PAPPA2	174935087	1.000000	0.71417	0.662000	0.29724	0.370000	0.29829	6.507000	0.73717	1.023000	0.39654	0.533000	0.62120	GAG	PAPPA2	-	superfamily_Fibronectin_type3	ENSG00000116183		0.547	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	795	0.13	1	A			176668464	176668464	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	701	25.48	240	SNP	0.941	C
PAQR9	344838	genome.wustl.edu	37	3	142681557	142681557	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:142681557C>T	ENST00000340634.3	-	1	621	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	208						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A208T(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCGCGGTAGGCGGCGATAAGG	0.647																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											37.0	36.0	37.0					3																	142681557		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.622G>A	3.37:g.142681557C>T	ENSP00000341564:p.Ala208Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T6	Missense_Mutation	SNP	pfam_HlyIII-related	p.A208T	ENST00000340634.3	37	c.622	CCDS3128.1	3	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117987	0.37339	.	.	ENSG00000188582	ENST00000340634	T	0.29142	1.58	4.9	4.9	0.64082	.	0.232228	0.35903	N	0.002912	T	0.19525	0.0469	L	0.28458	0.855	0.29856	N	0.827993	P	0.41214	0.742	B	0.33568	0.166	T	0.09015	-1.0694	10	0.17369	T	0.5	-18.1634	14.1308	0.65253	0.0:0.8499:0.1501:0.0	.	208	Q6ZVX9	PAQR9_HUMAN	T	208	ENSP00000341564:A208T	ENSP00000341564:A208T	A	-	1	0	PAQR9	144164247	0.033000	0.19621	0.997000	0.53966	0.727000	0.41649	0.446000	0.21694	2.423000	0.82170	0.561000	0.74099	GCC	PAQR9	-	pfam_HlyIII-related	ENSG00000188582		0.647	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	HGNC	protein_coding	OTTHUMT00000354538.1	11	0.00	0	C	NM_198504		142681557	142681557	-1	no_errors	ENST00000340634	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	1.000	T
PARK2	5071	genome.wustl.edu	37	6	162622238	162622238	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:162622238G>T	ENST00000366898.1	-	4	561	c.459C>A	c.(457-459)ccC>ccA	p.P153P	PARK2_ENST00000366897.1_Silent_p.P153P|PARK2_ENST00000366894.1_De_novo_Start_OutOfFrame|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366892.1_Silent_p.P153P|PARK2_ENST00000366896.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	153					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCTTTGACAGGGGCCTTTGC	0.478																																						dbGAP											0													125.0	116.0	119.0					6																	162622238		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.459C>A	6.37:g.162622238G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup	p.P153	ENST00000366898.1	37	c.459	CCDS5281.1	6																																																																																			PARK2	-	pirsf_Parkin	ENSG00000185345		0.478	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	119	0.00	0	G			162622238	162622238	-1	no_errors	ENST00000366898	ensembl	human	known	69_37n	silent	61	39.60	40	SNP	0.985	T
PARP4	143	genome.wustl.edu	37	13	25068831	25068831	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:25068831G>T	ENST00000381989.3	-	7	726	c.621C>A	c.(619-621)acC>acA	p.T207T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	207					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATCTTCAGAGGTTTTCTTTA	0.313																																						dbGAP											0													126.0	124.0	125.0					13																	25068831		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.621C>A	13.37:g.25068831G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.T207	ENST00000381989.3	37	c.621	CCDS9307.1	13																																																																																			PARP4	-	NULL	ENSG00000102699		0.313	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	67	0.00	0	G	NM_006437		25068831	25068831	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	silent	50	30.56	22	SNP	0.973	T
PAX3	5077	genome.wustl.edu	37	2	223086014	223086014	+	Silent	SNP	A	A	G	rs199847426		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:223086014A>G	ENST00000350526.4	-	6	1021	c.885T>C	c.(883-885)ccT>ccC	p.P295P	PAX3_ENST00000336840.6_Silent_p.P295P|PAX3_ENST00000409551.3_Silent_p.P294P|PAX3_ENST00000344493.4_Silent_p.P295P|PAX3_ENST00000392070.2_Silent_p.P295P|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Silent_p.P295P	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	295					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCAGTGGGAGGGAACCCCC	0.547			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															dbGAP		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													172.0	179.0	177.0					2																	223086014		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.885T>C	2.37:g.223086014A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.P295	ENST00000350526.4	37	c.885	CCDS42826.1	2																																																																																			PAX3	-	NULL	ENSG00000135903		0.547	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	391	0.26	1	A			223086014	223086014	-1	no_errors	ENST00000392069	ensembl	human	known	69_37n	silent	172	35.45	95	SNP	0.999	G
PAX6	5080	genome.wustl.edu	37	11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-	rs200015827		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:31812317delG	ENST00000379132.3	-	11	1404	c.1124delC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000379129.2_Frame_Shift_Del_p.P389fs|PAX6_ENST00000419022.1_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Del_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Del_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Del_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Del_p.P375fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CTGCATATGTGGGGGGGTGTA	0.587									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													dbGAP											0			GRCh37	CM011452	PAX6	M							114.0	100.0	105.0					11																	31812317		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1124delC	11.37:g.31812317delG	ENSP00000368427:p.Pro375fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6N006|Q99413	Frame_Shift_Del	DEL	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.P389fs	ENST00000379132.3	37	c.1166	CCDS31451.1	11																																																																																			PAX6	-	NULL	ENSG00000007372		0.587	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	HGNC	protein_coding	OTTHUMT00000099293.4	45	0.00	0	G	NM_001604		31812317	31812317	-1	no_errors	ENST00000379107	ensembl	human	known	69_37n	frame_shift_del	30	43.40	23	DEL	1.000	-
PBX1	5087	genome.wustl.edu	37	1	164789207	164789207	+	Intron	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:164789207delG	ENST00000420696.2	+	7	1185				PBX1_ENST00000540236.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000560641.1_Intron|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000540246.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1						adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GTTTTTATTTGGGGGGGGTTG	0.403			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	dbGAP		Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	0																																										-	-	-	SO:0001627	intron_variant	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.998-102G>-	1.37:g.164789207delG		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSC1|F5H4U9|Q5T488	RNA	DEL	-	NULL	ENST00000420696.2	37	NULL	CCDS1246.1	1																																																																																			PBX1	-	-	ENSG00000185630		0.403	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	66	0.00	0	G	NM_002585		164789207	164789207	+1	no_errors	ENST00000465089	ensembl	human	known	69_37n	rna	46	46.15	42	DEL	0.000	-
PBX3	5090	genome.wustl.edu	37	9	128511053	128511053	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:128511053G>A	ENST00000373489.5	+	2	290				PBX3_ENST00000373487.4_Intron|RP11-423C15.3_ENST00000606827.1_lincRNA|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000447726.2_Intron|PBX3_ENST00000342287.5_Intron	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3						adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGAAAAAACTGCAATAAATCT	0.542																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.274+151G>A	9.37:g.128511053G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	RNA	SNP	-	NULL	ENST00000373489.5	37	NULL	CCDS6865.1	9																																																																																			PBX3	-	-	ENSG00000167081		0.542	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	32	0.00	0	G			128511053	128511053	+1	no_errors	ENST00000497967	ensembl	human	known	69_37n	rna	10	47.37	9	SNP	1.000	A
PBXIP1	57326	genome.wustl.edu	37	1	154918317	154918317	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:154918317C>T	ENST00000368463.3	-	10	1904	c.1833G>A	c.(1831-1833)cgG>cgA	p.R611R	PBXIP1_ENST00000368465.1_Silent_p.R582R|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000539880.1_Silent_p.R438R|PBXIP1_ENST00000542459.1_Silent_p.R456R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	611					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTCCTGTTGCCGCACTGGGG	0.627																																						dbGAP											0													54.0	54.0	54.0					1																	154918317		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1833G>A	1.37:g.154918317C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	NULL	p.R611	ENST00000368463.3	37	c.1833	CCDS1074.1	1																																																																																			PBXIP1	-	NULL	ENSG00000163346		0.627	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	127	0.78	1	C	NM_020524		154918317	154918317	-1	no_errors	ENST00000368463	ensembl	human	known	69_37n	silent	151	30.59	67	SNP	0.998	T
PCDH11X	27328	genome.wustl.edu	37	X	91090836	91090836	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:91090836G>T	ENST00000373094.1	+	1	1178	c.333G>T	c.(331-333)gaG>gaT	p.E111D	PCDH11X_ENST00000406881.1_Missense_Mutation_p.E111D|PCDH11X_ENST00000395337.2_Missense_Mutation_p.E111D|PCDH11X_ENST00000298274.8_Missense_Mutation_p.E111D|PCDH11X_ENST00000361724.1_Missense_Mutation_p.E111D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.E111D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.E111D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.E111D|PCDH11X_ENST00000504220.2_Missense_Mutation_p.E111D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATGAAGTGGAGGTTGCCATTT	0.403																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													93.0	84.0	87.0					X																	91090836		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.333G>T	X.37:g.91090836G>T	ENSP00000362186:p.Glu111Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E111D	ENST00000373094.1	37	c.333	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325705	0.41197	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.44	1.7	0.24286	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.49126	1.545	0.38986	D	0.959045	D;B;D;D;D;D;D;D	0.89917	1.0;0.072;0.999;0.999;1.0;1.0;0.999;0.999	D;B;D;D;D;D;D;D	0.91635	0.999;0.156;0.997;0.997;0.999;0.999;0.997;0.997	T	0.21930	-1.0231	10	0.44086	T	0.13	.	7.2423	0.26104	0.3749:0.0:0.6251:0.0	.	111;111;111;111;111;111;111;111	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	D	111	ENSP00000378746:E111D;ENSP00000362186:E111D;ENSP00000362189:E111D;ENSP00000355040:E111D;ENSP00000362180:E111D;ENSP00000423762:E111D;ENSP00000355105:E111D;ENSP00000384758:E111D;ENSP00000298274:E111D	ENSP00000298274:E111D	E	+	3	2	PCDH11X	90977492	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	0.901000	0.28445	0.105000	0.17753	-0.332000	0.08345	GAG	PCDH11X	-	pfam_Cadherin_N,pfscan_Cadherin	ENSG00000102290		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	240	0.41	1	G	NM_032969		91090836	91090836	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	missense	125	34.72	67	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55700650	55700650	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:55700650A>T	ENST00000320301.6	-	24	3602	c.3208T>A	c.(3208-3210)Tcc>Acc	p.S1070T	PCDH15_ENST00000395433.1_Missense_Mutation_p.S1048T|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1070T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.S1077T|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1033T|PCDH15_ENST00000409834.1_Missense_Mutation_p.S681T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1070T|PCDH15_ENST00000395445.1_Missense_Mutation_p.S1077T|PCDH15_ENST00000414778.1_Missense_Mutation_p.S1075T|PCDH15_ENST00000437009.1_Missense_Mutation_p.S999T|PCDH15_ENST00000395438.1_Missense_Mutation_p.S1070T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1070	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAACAATGGAGTACACAATA	0.398										HNSCC(58;0.16)																												dbGAP											0													99.0	94.0	95.0					10																	55700650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3208T>A	10.37:g.55700650A>T	ENSP00000322604:p.Ser1070Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1070T	ENST00000320301.6	37	c.3208	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	18.33	3.600191	0.66332	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.37	4.2	0.49525	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68997	0.3062	M	0.74467	2.265	0.54753	D	0.999987	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.99;1.0;0.981;0.992;0.998;1.0;0.99;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.996;0.999;0.955;0.972;0.999;0.996;0.996;0.999;0.987;0.987;0.992;0.999;0.991	T	0.68334	-0.5436	9	0.44086	T	0.13	.	10.378	0.44094	0.8352:0.1648:0.0:0.0	.	1048;1070;1070;1075;999;1033;1070;1070;1077;1077;1070;1075;1070	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1077;1075;1070;1070;681;1077;1033;1070;1048;1070;1070;1075;999	ENSP00000363076:S1077T;ENSP00000410304:S1075T;ENSP00000378826:S1070T;ENSP00000386693:S681T;ENSP00000378832:S1077T;ENSP00000378820:S1033T;ENSP00000354950:S1070T;ENSP00000378821:S1048T;ENSP00000322604:S1070T;ENSP00000378818:S1070T;ENSP00000412628:S999T	ENSP00000322604:S1070T	S	-	1	0	PCDH15	55370656	1.000000	0.71417	0.975000	0.42487	0.667000	0.39255	6.496000	0.73670	0.943000	0.37553	0.477000	0.44152	TCC	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	116	0.00	0	A	NM_033056		55700650	55700650	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	65	40.37	44	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	56089435	56089435	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:56089435A>G	ENST00000320301.6	-	7	1020	c.626T>C	c.(625-627)aTg>aCg	p.M209T	PCDH15_ENST00000395433.1_Missense_Mutation_p.M187T|PCDH15_ENST00000361849.3_Missense_Mutation_p.M209T|PCDH15_ENST00000373957.3_Missense_Mutation_p.M187T|PCDH15_ENST00000373965.2_Missense_Mutation_p.M209T|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.M209T|PCDH15_ENST00000395430.1_Missense_Mutation_p.M209T|PCDH15_ENST00000395445.1_Missense_Mutation_p.M209T|PCDH15_ENST00000373955.1_Missense_Mutation_p.M209T|PCDH15_ENST00000414778.1_Missense_Mutation_p.M214T|PCDH15_ENST00000437009.1_Missense_Mutation_p.M209T|PCDH15_ENST00000395438.1_Missense_Mutation_p.M209T|PCDH15_ENST00000395440.1_Missense_Mutation_p.M209T|PCDH15_ENST00000395442.1_Missense_Mutation_p.M209T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCAGTCAACATTAGGGGAAT	0.313										HNSCC(58;0.16)																												dbGAP											0													148.0	146.0	147.0					10																	56089435		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.626T>C	10.37:g.56089435A>G	ENSP00000322604:p.Met209Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.M209T	ENST00000320301.6	37	c.626	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525205	0.27299	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.44	4.31	0.51392	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.10637	0.0260	N	0.00308	-1.67	0.24851	N	0.992402	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.18013	0.003;0.003;0.003;0.001;0.025;0.003;0.0;0.001;0.001;0.001;0.003;0.0;0.0;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.18871	0.01;0.004;0.004;0.004;0.023;0.01;0.002;0.004;0.004;0.004;0.004;0.001;0.002;0.004	T	0.21930	-1.0231	9	0.17832	T	0.49	.	3.3854	0.07269	0.6555:0.0:0.3445:0.0	.	187;209;209;214;209;209;209;209;209;209;214;209;187;209	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	209;214;209;209;209;209;209;209;209;187;187;209;209;214;209;209	ENSP00000363076:M209T;ENSP00000410304:M214T;ENSP00000378826:M209T;ENSP00000378832:M209T;ENSP00000378833:M209T;ENSP00000378829:M209T;ENSP00000378827:M209T;ENSP00000354950:M209T;ENSP00000378821:M187T;ENSP00000363068:M187T;ENSP00000322604:M209T;ENSP00000378818:M209T;ENSP00000412628:M209T;ENSP00000363066:M209T	ENSP00000322604:M209T	M	-	2	0	PCDH15	55759441	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.628000	0.67791	2.065000	0.61736	0.528000	0.53228	ATG	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.313	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	207	0.00	0	A	NM_033056		56089435	56089435	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	85	44.16	68	SNP	1.000	G
PCDH18	54510	genome.wustl.edu	37	4	138452690	138452690	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:138452690C>T	ENST00000344876.4	-	1	939	c.553G>A	c.(553-555)Gag>Aag	p.E185K	PCDH18_ENST00000412923.2_Missense_Mutation_p.E185K|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTCCGAACCTCGATATTAAAA	0.488																																						dbGAP											0													59.0	58.0	59.0					4																	138452690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.553G>A	4.37:g.138452690C>T	ENSP00000355082:p.Glu185Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E185K	ENST00000344876.4	37	c.553	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791259	0.70452	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.53640	0.61;0.61	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	D	0.000537	T	0.50956	0.1646	L	0.40543	1.245	0.80722	D	1	P;P	0.51933	0.949;0.873	P;B	0.47864	0.559;0.207	T	0.48636	-0.9018	10	0.52906	T	0.07	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	185;185	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	K	185	ENSP00000355082:E185K;ENSP00000390688:E185K	ENSP00000355082:E185K	E	-	1	0	PCDH18	138672140	1.000000	0.71417	0.996000	0.52242	0.166000	0.22503	7.770000	0.85390	2.788000	0.95919	0.557000	0.71058	GAG	PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000189184		0.488	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	157	0.00	0	C	NM_019035		138452690	138452690	-1	no_errors	ENST00000344876	ensembl	human	known	69_37n	missense	75	47.55	68	SNP	1.000	T
PCDHA11	56138	genome.wustl.edu	37	5	140250877	140250877	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:140250877C>T	ENST00000398640.2	+	1	2189	c.2189C>T	c.(2188-2190)gCg>gTg	p.A730V	PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	730					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGAGGGCGCGTGCGCGCCG	0.677																																						dbGAP											0													31.0	32.0	32.0					5																	140250877		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.2189C>T	5.37:g.140250877C>T	ENSP00000381636:p.Ala730Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A730V	ENST00000398640.2	37	c.2189	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	2.966	-0.213504	0.06140	.	.	ENSG00000249158	ENST00000398640	T	0.12361	2.69	4.6	1.34	0.21922	.	.	.	.	.	T	0.07234	0.0183	N	0.21282	0.65	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.09377	0.003;0.004	T	0.38090	-0.9677	9	0.36615	T	0.2	.	0.3182	0.00299	0.2351:0.2968:0.2349:0.2333	.	730;730	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	730	ENSP00000381636:A730V	ENSP00000381636:A730V	A	+	2	0	PCDHA11	140231061	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.229000	0.09098	0.336000	0.23639	-1.470000	0.01010	GCG	PCDHA11	-	NULL	ENSG00000249158		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	12	0.00	0	C	NM_018902		140250877	140250877	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.000	T
PCDHA12	56137	genome.wustl.edu	37	5	140256186	140256186	+	Missense_Mutation	SNP	C	C	T	rs143847585		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:140256186C>T	ENST00000398631.2	+	1	1129	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	377	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTCGGATCGTGACTCTGG	0.512																																					Pancreas(113;759 1672 13322 24104 50104)	dbGAP											0													125.0	122.0	123.0					5																	140256186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1129C>T	5.37:g.140256186C>T	ENSP00000381628:p.Arg377Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R377C	ENST00000398631.2	37	c.1129	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	C	8.885	0.952558	0.18431	.	.	ENSG00000251664	ENST00000398631	T	0.01787	4.64	4.69	-2.35	0.06684	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.04588	0.0125	M	0.87971	2.92	0.09310	N	0.999997	P;P	0.42123	0.771;0.682	B;P	0.46110	0.266;0.504	T	0.16808	-1.0390	9	0.72032	D	0.01	.	4.3394	0.11103	0.4457:0.2962:0.187:0.0711	.	377;377	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	C	377	ENSP00000381628:R377C	ENSP00000381628:R377C	R	+	1	0	PCDHA12	140236370	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	-4.941000	0.00168	-0.114000	0.11936	-0.127000	0.14921	CGT	PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000251664		0.512	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	111	0.00	0	C	NM_018903		140256186	140256186	+1	no_errors	ENST00000398631	ensembl	human	known	69_37n	missense	66	31.63	31	SNP	0.004	T
PCDHA3	56145	genome.wustl.edu	37	5	140181027	140181027	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:140181027G>C	ENST00000522353.2	+	1	245	c.245G>C	c.(244-246)gGc>gCc	p.G82A	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G82A	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	82	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGAATGGCATTTTGTTT	0.627																																						dbGAP											0													106.0	122.0	117.0					5																	140181027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.245G>C	5.37:g.140181027G>C	ENSP00000429808:p.Gly82Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G82A	ENST00000522353.2	37	c.245	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	18.93	3.726919	0.69074	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.39997	1.05;1.05	4.47	4.47	0.54385	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.42682	U	0.000675	T	0.80560	0.4646	H	0.99545	4.62	0.41089	D	0.985587	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90304	0.4332	10	0.87932	D	0	.	17.5466	0.87864	0.0:0.0:1.0:0.0	.	82;82	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	A	82	ENSP00000429808:G82A;ENSP00000434086:G82A	ENSP00000429808:G82A	G	+	2	0	PCDHA3	140161211	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.547000	0.67249	2.223000	0.72356	0.461000	0.40582	GGC	PCDHA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000255408		0.627	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	109	0.00	0	G	NM_018906		140181027	140181027	+1	no_errors	ENST00000522353	ensembl	human	known	69_37n	missense	80	48.05	74	SNP	1.000	C
PCDHA12	56137	genome.wustl.edu	37	5	140256671	140256671	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:140256671C>T	ENST00000398631.2	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)	dbGAP											0													76.0	84.0	81.0					5																	140256671		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1614C>T	5.37:g.140256671C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R538	ENST00000398631.2	37	c.1614	CCDS47285.1	5																																																																																			PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000251664		0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	31	0.00	0	C	NM_018903		140256671	140256671	+1	no_errors	ENST00000398631	ensembl	human	known	69_37n	silent	38	25.49	13	SNP	0.984	T
PCDHB3	56132	genome.wustl.edu	37	5	140480423	140480423	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:140480423G>A	ENST00000231130.2	+	1	190	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	64	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCGAGGGGGGCCCAAGTTGT	0.502																																						dbGAP											0													65.0	76.0	72.0					5																	140480423		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.190G>A	5.37:g.140480423G>A	ENSP00000231130:p.Ala64Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A64T	ENST00000231130.2	37	c.190	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004358	0.35320	.	.	ENSG00000113205	ENST00000231130	T	0.38240	1.15	4.61	0.716	0.18191	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.46737	0.1408	M	0.82517	2.595	0.09310	N	1	P	0.37525	0.598	P	0.49047	0.599	T	0.45934	-0.9227	9	0.46703	T	0.11	.	2.0542	0.03578	0.2272:0.1326:0.5037:0.1365	.	64	Q9Y5E6	PCDB3_HUMAN	T	64	ENSP00000231130:A64T	ENSP00000231130:A64T	A	+	1	0	PCDHB3	140460607	0.000000	0.05858	0.000000	0.03702	0.783000	0.44284	-0.052000	0.11865	-0.104000	0.12154	-0.793000	0.03317	GCC	PCDHB3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000113205		0.502	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	114	0.00	0	G	NM_018937		140480423	140480423	+1	no_errors	ENST00000231130	ensembl	human	known	69_37n	missense	89	32.58	43	SNP	0.000	A
PCDHB3	56132	genome.wustl.edu	37	5	140481777	140481777	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:140481777C>T	ENST00000231130.2	+	1	1544	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCTGTTTGCCCTCAGGTCG	0.682																																						dbGAP											0													55.0	59.0	57.0					5																	140481777		2202	4296	6498	-	-	-	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1544C>T	5.37:g.140481777C>T	ENSP00000231130:p.Ala515Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A515V	ENST00000231130.2	37	c.1544	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	6.041	0.375889	0.11409	.	.	ENSG00000113205	ENST00000231130	T	0.01647	4.71	4.05	3.16	0.36331	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02418	0.0074	N	0.20328	0.56	0.09310	N	1	B	0.25563	0.129	B	0.36766	0.232	T	0.48269	-0.9050	9	0.62326	D	0.03	.	13.2654	0.60131	0.0:0.6968:0.3031:0.0	.	515	Q9Y5E6	PCDB3_HUMAN	V	515	ENSP00000231130:A515V	ENSP00000231130:A515V	A	+	2	0	PCDHB3	140461961	0.000000	0.05858	0.479000	0.27329	0.003000	0.03518	0.030000	0.13688	0.801000	0.34066	-0.182000	0.12963	GCC	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000113205		0.682	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	134	0.00	0	C	NM_018937		140481777	140481777	+1	no_errors	ENST00000231130	ensembl	human	known	69_37n	missense	130	34.34	68	SNP	0.121	T
PCDHB7	56129	genome.wustl.edu	37	5	140552718	140552718	+	Missense_Mutation	SNP	C	C	A	rs139238267	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:140552718C>A	ENST00000231137.3	+	1	476	c.302C>A	c.(301-303)cCc>cAc	p.P101H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P101H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGAGCCCTGTGTGCTG	0.443																																						dbGAP											1	Substitution - Missense(1)	lung(1)											82.0	87.0	85.0					5																	140552718		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.302C>A	5.37:g.140552718C>A	ENSP00000231137:p.Pro101His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P101H	ENST00000231137.3	37	c.302	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798988	0.50208	.	.	ENSG00000113212	ENST00000231137	T	0.30448	1.53	4.61	3.72	0.42706	Cadherin, N-terminal (1);	.	.	.	.	T	0.57548	0.2061	M	0.83118	2.625	0.30508	N	0.769695	D	0.69078	0.997	D	0.77004	0.989	T	0.60409	-0.7269	9	0.72032	D	0.01	.	13.2502	0.60048	0.0:0.9162:0.0:0.0838	.	101	Q9Y5E2	PCDB7_HUMAN	H	101	ENSP00000231137:P101H	ENSP00000231137:P101H	P	+	2	0	PCDHB7	140532902	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.521000	0.22893	2.248000	0.74166	0.655000	0.94253	CCC	PCDHB7	-	pfam_Cadherin_N	ENSG00000113212		0.443	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	182	0.00	0	C	NM_018940		140552718	140552718	+1	no_errors	ENST00000231137	ensembl	human	known	69_37n	missense	162	27.88	63	SNP	0.983	A
PCDHGA6	56109	genome.wustl.edu	37	5	140754847	140754847	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:140754847C>T	ENST00000517434.1	+	1	1197	c.1197C>T	c.(1195-1197)ggC>ggT	p.G399G	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCAGTTGGCAATTATTATC	0.463																																						dbGAP											0													73.0	74.0	74.0					5																	140754847		1929	4140	6069	-	-	-	SO:0001819	synonymous_variant	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1197C>T	5.37:g.140754847C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G399	ENST00000517434.1	37	c.1197	CCDS54926.1	5																																																																																			PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253731		0.463	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	146	0.00	0	C	NM_018919		140754847	140754847	+1	no_errors	ENST00000517434	ensembl	human	known	69_37n	silent	133	27.57	51	SNP	0.070	T
PCDHGB6	56100	genome.wustl.edu	37	5	140789346	140789346	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:140789346G>A	ENST00000520790.1	+	1	1577	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGCTGCGCGCCTTCGCG	0.682																																						dbGAP											0													18.0	22.0	21.0					5																	140789346		2019	4172	6191	-	-	-	SO:0001583	missense	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1577G>A	5.37:g.140789346G>A	ENSP00000428603:p.Arg526His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R526H	ENST00000520790.1	37	c.1577	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	g	17.82	3.483382	0.63962	.	.	ENSG00000253305	ENST00000520790	T	0.01767	4.65	5.36	5.36	0.76844	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.10294	0.0252	M	0.75085	2.285	0.25757	N	0.984985	D;D	0.69078	0.997;0.972	D;P	0.62955	0.909;0.642	T	0.01195	-1.1422	9	0.66056	D	0.02	.	18.7028	0.91627	0.0:0.0:1.0:0.0	.	526;526	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	526	ENSP00000428603:R526H	ENSP00000428603:R526H	R	+	2	0	PCDHGB6	140769530	0.003000	0.15002	1.000000	0.80357	0.568000	0.35870	1.203000	0.32284	2.517000	0.84864	0.462000	0.41574	CGC	PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253305		0.682	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	16	0.00	0	G	NM_018926		140789346	140789346	+1	no_errors	ENST00000520790	ensembl	human	known	69_37n	missense	12	68.42	26	SNP	0.999	A
PCED1B	91523	genome.wustl.edu	37	12	47629616	47629616	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:47629616C>T	ENST00000546455.1	+	4	1501	c.770C>T	c.(769-771)cCc>cTc	p.P257L	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.P257L			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	257							hydrolase activity (GO:0016787)										GTGGAGCTGCCCCACCGCCAC	0.662																																						dbGAP											0													13.0	16.0	15.0					12																	47629616		2184	4278	6462	-	-	-	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.770C>T	12.37:g.47629616C>T	ENSP00000446688:p.Pro257Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.P257L	ENST00000546455.1	37	c.770	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692243	0.48202	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T	0.57436	0.4;0.4	4.04	4.04	0.47022	Esterase, SGNH hydrolase-type (1);	0.000000	0.64402	D	0.000001	T	0.69251	0.3090	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73116	-0.4084	10	0.87932	D	0	-32.6491	14.5155	0.67816	0.0:1.0:0.0:0.0	.	257	Q96HM7	F113B_HUMAN	L	257;257;137;137	ENSP00000446688:P257L;ENSP00000396040:P257L	ENSP00000328560:P137L	P	+	2	0	FAM113B	45915883	0.998000	0.40836	0.674000	0.29902	0.012000	0.07955	4.157000	0.58144	2.544000	0.85801	0.563000	0.77884	CCC	PCED1B	-	superfamily_Esterase_SGNH_hydro-type	ENSG00000179715		0.662	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	22	0.00	0	C	NM_138371		47629616	47629616	+1	no_errors	ENST00000432328	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	0.980	T
PCLO	27445	genome.wustl.edu	37	7	82390055	82390055	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:82390055delT	ENST00000333891.9	-	24	15525	c.15188delA	c.(15187-15189)aagfs	p.K5063fs		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGATCACCTTTTTTTGGGT	0.313																																						dbGAP											0													96.0	90.0	92.0					7																	82390055		1809	4069	5878	-	-	-	SO:0001589	frameshift_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15188delA	7.37:g.82390055delT	ENSP00000334319:p.Lys5063fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.K5063fs	ENST00000333891.9	37	c.15188	CCDS47630.1	7																																																																																			PCLO	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000186472		0.313	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	169	0.00	0	T	NM_014510		82390055	82390055	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	frame_shift_del	90	33.09	45	DEL	1.000	-
PCLO	27445	genome.wustl.edu	37	7	82764243	82764243	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:82764243A>G	ENST00000333891.9	-	3	2960	c.2623T>C	c.(2623-2625)Tca>Cca	p.S875P	PCLO_ENST00000423517.2_Missense_Mutation_p.S875P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGTTGGTGACCCTTTTGGC	0.517																																						dbGAP											0													197.0	198.0	198.0					7																	82764243		1993	4169	6162	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2623T>C	7.37:g.82764243A>G	ENSP00000334319:p.Ser875Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S875P	ENST00000333891.9	37	c.2623	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508282	0.27036	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.32	6.07	1.18	0.20946	.	.	.	.	.	T	0.10208	0.0250	L	0.31294	0.92	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.18429	-1.0337	9	0.87932	D	0	.	2.2632	0.04072	0.583:0.1545:0.1237:0.1388	.	875;875	Q9Y6V0-5;Q9Y6V0-6	.;.	P	821;875;875	ENSP00000334319:S875P;ENSP00000388393:S875P	ENSP00000334319:S875P	S	-	1	0	PCLO	82602179	0.080000	0.21391	0.979000	0.43373	0.988000	0.76386	0.666000	0.25097	0.513000	0.28278	0.533000	0.62120	TCA	PCLO	-	NULL	ENSG00000186472		0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	431	0.00	0	A	NM_014510		82764243	82764243	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	215	38.81	137	SNP	0.663	G
PCM1	5108	genome.wustl.edu	37	8	17810630	17810630	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:17810630delA	ENST00000519253.1	+	9	1474	c.1223delA	c.(1222-1224)caafs	p.Q408fs	PCM1_ENST00000518537.1_Frame_Shift_Del_p.Q447fs|PCM1_ENST00000325083.8_Frame_Shift_Del_p.Q408fs|PCM1_ENST00000524226.1_Frame_Shift_Del_p.Q408fs			Q15154	PCM1_HUMAN	pericentriolar material 1	408				Q -> K (in Ref. 3; AAH27477/AAH65022). {ECO:0000305}.	centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GAAAAGAAACAAAAAATGGAC	0.393			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	dbGAP		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	0													64.0	60.0	61.0					8																	17810630		1845	4093	5938	-	-	-	SO:0001589	frameshift_variant	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1223delA	8.37:g.17810630delA	ENSP00000431099:p.Gln408fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Frame_Shift_Del	DEL	NULL	p.M410fs	ENST00000519253.1	37	c.1223		8																																																																																			PCM1	-	NULL	ENSG00000078674		0.393	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	53	0.00	0	A	NM_006197		17810630	17810630	+1	no_errors	ENST00000325083	ensembl	human	known	69_37n	frame_shift_del	24	33.33	12	DEL	1.000	-
PCNT	5116	genome.wustl.edu	37	21	47808749	47808749	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:47808749G>A	ENST00000359568.5	+	18	3664	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1186					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATCGGGGAGCGCGTGGGGCTC	0.697																																						dbGAP											0													30.0	34.0	32.0					21																	47808749		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3557G>A	21.37:g.47808749G>A	ENSP00000352572:p.Arg1186His	Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.R1186H	ENST00000359568.5	37	c.3557	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499535	0.44455	.	.	ENSG00000160299	ENST00000359568	T	0.02177	4.41	5.08	4.2	0.49525	.	0.240490	0.21898	N	0.067497	T	0.09335	0.0230	M	0.66939	2.045	0.29514	N	0.854023	P;D	0.89917	0.56;1.0	B;D	0.85130	0.18;0.997	T	0.01734	-1.1285	10	0.46703	T	0.11	.	9.2658	0.37641	0.0979:0.0:0.9021:0.0	.	1068;1186	O95613-2;O95613	.;PCNT_HUMAN	H	1186	ENSP00000352572:R1186H	ENSP00000352572:R1186H	R	+	2	0	PCNT	46633177	0.978000	0.34361	0.889000	0.34880	0.011000	0.07611	1.958000	0.40402	1.367000	0.46095	0.655000	0.94253	CGC	PCNT	-	NULL	ENSG00000160299		0.697	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	20	0.00	0	G	NM_006031		47808749	47808749	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	0.874	A
PCNT	5116	genome.wustl.edu	37	21	47845792	47845792	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:47845792G>A	ENST00000359568.5	+	33	7334	c.7227G>A	c.(7225-7227)ctG>ctA	p.L2409L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2409					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCCTGGCGCTGTCAGAAGGCC	0.612																																						dbGAP											0													81.0	78.0	79.0					21																	47845792		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7227G>A	21.37:g.47845792G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.L2409	ENST00000359568.5	37	c.7227	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.612	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	29	0.00	0	G	NM_006031		47845792	47845792	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	0.945	A
PCNXL2	80003	genome.wustl.edu	37	1	233161108	233161108	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:233161108C>T	ENST00000258229.9	-	26	4623	c.4389G>A	c.(4387-4389)atG>atA	p.M1463I	PCNXL2_ENST00000344698.2_Missense_Mutation_p.M115I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1463						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CGTCGCCCTCCATGATGGCTT	0.567											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													74.0	81.0	78.0					1																	233161108		2178	4271	6449	-	-	-	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4389G>A	1.37:g.233161108C>T	ENSP00000258229:p.Met1463Ile	Somatic	2363	WXS	Illumina GAIIx	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.M1463I	ENST00000258229.9	37	c.4389	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048144	0.55110	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.21734	1.99;3.16	5.77	4.85	0.62838	.	0.039617	0.85682	D	0.000000	T	0.09113	0.0225	N	0.08118	0	0.80722	D	1	B;P	0.38195	0.227;0.622	B;B	0.33454	0.09;0.164	T	0.12142	-1.0559	10	0.87932	D	0	.	5.1269	0.14890	0.1618:0.6441:0.0:0.1941	.	1463;115	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	I	115;1463	ENSP00000340759:M115I;ENSP00000258229:M1463I	ENSP00000258229:M1463I	M	-	3	0	PCNXL2	231227731	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	0.874000	0.28065	1.569000	0.49696	0.655000	0.94253	ATG	PCNXL2	-	NULL	ENSG00000135749		0.567	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	125	0.00	0	C	NM_014801		233161108	233161108	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	missense	125	27.33	47	SNP	1.000	T
PCNXL3	399909	genome.wustl.edu	37	11	65396991	65396991	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:65396991G>A	ENST00000355703.3	+	26	4540	c.4001G>A	c.(4000-4002)gGc>gAc	p.G1334D		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1334						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGGTCTTAGGCGCTGATGAC	0.587																																						dbGAP											0													55.0	57.0	56.0					11																	65396991		2136	4246	6382	-	-	-	SO:0001630	splice_region_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4001-1G>A	11.37:g.65396991G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.G1334D	ENST00000355703.3	37	c.4001	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735365	0.89482	.	.	ENSG00000197136	ENST00000355703	T	0.08546	3.08	5.03	5.03	0.67393	.	0.118954	0.56097	D	0.000027	T	0.24624	0.0597	M	0.80508	2.5	0.80722	D	1	B;D	0.69078	0.222;0.997	B;P	0.55011	0.202;0.766	T	0.00827	-1.1550	9	.	.	.	.	15.9658	0.79970	0.0:0.0:1.0:0.0	.	221;1334	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	D	1334	ENSP00000347931:G1334D	.	G	+	2	0	PCNXL3	65153567	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.255000	0.95524	2.649000	0.89929	0.555000	0.69702	GGC	PCNXL3	-	NULL	ENSG00000197136		0.587	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	14	0.00	0	G	NM_032223	Missense_Mutation	65396991	65396991	+1	no_errors	ENST00000355703	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	A
PDCD1	5133	genome.wustl.edu	37	2	242794975	242794976	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:242794975_242794976insT	ENST00000334409.5	-	2	302_303	c.233_234insA	c.(232-234)aagfs	p.K78fs		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	78	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		AGGCGGCCAGCTTGTCCGTCTG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.234dupA	2.37:g.242794977_242794977dupT	ENSP00000335062:p.Lys78fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00517|Q8IX89	Frame_Shift_Ins	INS	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L79fs	ENST00000334409.5	37	c.234_233	CCDS33428.1	2																																																																																			PDCD1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000188389		0.629	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1	HGNC	protein_coding	OTTHUMT00000322313.1	8	0.00	0	-	NM_005018		242794975	242794976	-1	no_errors	ENST00000334409	ensembl	human	known	69_37n	frame_shift_ins	4	42.86	3	INS	0.998:0.997	T
PDCD10	11235	genome.wustl.edu	37	3	167405092	167405092	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:167405092G>T	ENST00000392750.2	-	8	904	c.487C>A	c.(487-489)Caa>Aaa	p.Q163K	PDCD10_ENST00000492396.1_Missense_Mutation_p.Q100K|PDCD10_ENST00000487947.2_Missense_Mutation_p.Q163K|PDCD10_ENST00000497056.2_Missense_Mutation_p.Q163K|PDCD10_ENST00000470131.1_Missense_Mutation_p.Q163K|PDCD10_ENST00000471885.1_Missense_Mutation_p.Q163K|PDCD10_ENST00000473645.2_Missense_Mutation_p.Q163K|PDCD10_ENST00000461494.1_Missense_Mutation_p.Q163K	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	163					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TCTTTCTTTTGGTGTTCAAGT	0.303																																						dbGAP											0													46.0	48.0	47.0					3																	167405092		2202	4275	6477	-	-	-	SO:0001583	missense	0			AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.487C>A	3.37:g.167405092G>T	ENSP00000376506:p.Gln163Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K515|D3DNN5|O14811	Missense_Mutation	SNP	pfam_DUF1241	p.Q163K	ENST00000392750.2	37	c.487	CCDS3202.1	3	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070456	0.55539	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000492396;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000479121	T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;2.0;0.9;0.9;0.9;0.9;0.9	5.93	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	L	0.39898	1.24	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09530	-1.0670	10	0.39692	T	0.17	-7.3031	16.7599	0.85509	0.0:0.0:0.8698:0.1302	.	163	Q9BUL8	PDC10_HUMAN	K	163;163;163;100;163;163;163;163;163;117	ENSP00000376506:Q163K;ENSP00000418317:Q163K;ENSP00000420553:Q163K;ENSP00000417309:Q100K;ENSP00000420021:Q163K;ENSP00000417202:Q163K;ENSP00000417118:Q163K;ENSP00000420266:Q163K;ENSP00000417876:Q163K	ENSP00000376506:Q163K	Q	-	1	0	PDCD10	168887786	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.033000	0.88852	1.533000	0.49186	-0.189000	0.12847	CAA	PDCD10	-	NULL	ENSG00000114209		0.303	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD10	HGNC	protein_coding	OTTHUMT00000350966.2	219	0.00	0	G	NM_007217		167405092	167405092	-1	no_errors	ENST00000392750	ensembl	human	known	69_37n	missense	91	46.47	79	SNP	1.000	T
PDE4B	5142	genome.wustl.edu	37	1	66384457	66384457	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:66384457C>T	ENST00000329654.4	+	3	407	c.220C>T	c.(220-222)Ccg>Tcg	p.P74S	PDE4B_ENST00000371049.3_Missense_Mutation_p.P74S	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	74					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TATTTCCAGGCCGACCACACT	0.458																																						dbGAP											0													109.0	102.0	104.0					1																	66384457		2203	4300	6503	-	-	-	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.220C>T	1.37:g.66384457C>T	ENSP00000332116:p.Pro74Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.P74S	ENST00000329654.4	37	c.220	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244378	0.79912	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.16597	2.33;2.33;2.33	5.6	5.6	0.85130	.	0.426470	0.23658	N	0.045854	T	0.26340	0.0643	L	0.50333	1.59	0.48632	D	0.999683	D	0.63880	0.993	D	0.70227	0.968	T	0.00573	-1.1664	10	0.26408	T	0.33	.	18.1588	0.89702	0.0:1.0:0.0:0.0	.	74	Q07343	PDE4B_HUMAN	S	74	ENSP00000332116:P74S;ENSP00000342637:P74S;ENSP00000360088:P74S	ENSP00000332116:P74S	P	+	1	0	PDE4B	66157045	1.000000	0.71417	0.995000	0.50966	0.759000	0.43091	6.824000	0.75288	2.626000	0.88956	0.650000	0.86243	CCG	PDE4B	-	NULL	ENSG00000184588		0.458	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	195	0.00	0	C	NM_002600		66384457	66384457	+1	no_errors	ENST00000329654	ensembl	human	known	69_37n	missense	93	43.29	71	SNP	1.000	T
PDE4D	5144	genome.wustl.edu	37	5	58271602	58271602	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:58271602C>T	ENST00000340635.6	-	14	2070	c.1895G>A	c.(1894-1896)cGc>cAc	p.R632H	PDE4D_ENST00000360047.5_Missense_Mutation_p.R496H|PDE4D_ENST00000507116.1_Missense_Mutation_p.R568H|PDE4D_ENST00000503258.1_Missense_Mutation_p.R502H|PDE4D_ENST00000358923.6_Missense_Mutation_p.R330H|PDE4D_ENST00000546160.1_Missense_Mutation_p.R571H|PDE4D_ENST00000317118.8_Missense_Mutation_p.R341H|PDE4D_ENST00000502484.2_Missense_Mutation_p.R571H|PDE4D_ENST00000405755.2_Missense_Mutation_p.R510H	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	632					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)			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)	CGTCCACTGGCGGTACAGCTG	0.507																																						dbGAP											0													92.0	97.0	95.0					5																	58271602		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.1895G>A	5.37:g.58271602C>T	ENSP00000345502:p.Arg632His	Somatic		WXS	Illumina GAIIx	Phase_IV	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.R632H	ENST00000340635.6	37	c.1895	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.140947	0.94560	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	4.4	4.4	0.53042	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D;D;P	0.89917	0.998;0.999;0.998;1.0;1.0;0.998;0.964;0.618	D;D;D;D;D;D;P;B	0.87578	0.94;0.976;0.94;0.998;0.998;0.94;0.499;0.096	D	0.84339	0.0526	10	0.23891	T	0.37	.	17.5214	0.87787	0.0:1.0:0.0:0.0	.	571;632;568;495;510;502;407;341	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	H	632;501;496;568;330;341;502;510;571;571;330	ENSP00000345502:R632H;ENSP00000353152:R496H;ENSP00000424852:R568H;ENSP00000351800:R330H;ENSP00000321739:R341H;ENSP00000425605:R502H;ENSP00000384806:R510H;ENSP00000423094:R571H;ENSP00000442734:R571H;ENSP00000421013:R330H	ENSP00000321739:R341H	R	-	2	0	PDE4D	58307359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.427000	0.82271	0.655000	0.94253	CGC	PDE4D	-	pfam_PDEase_catalytic_dom	ENSG00000113448		0.507	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	147	0.00	0	C			58271602	58271602	-1	no_errors	ENST00000340635	ensembl	human	known	69_37n	missense	62	34.74	33	SNP	1.000	T
PDE6A	5145	genome.wustl.edu	37	5	149279032	149279032	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:149279032A>G	ENST00000255266.5	-	9	1288	c.1169T>C	c.(1168-1170)aTt>aCt	p.I390T		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	390	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CTTGTTCACAATCGGCATTGA	0.428																																						dbGAP											0													219.0	209.0	212.0					5																	149279032		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1169T>C	5.37:g.149279032A>G	ENSP00000255266:p.Ile390Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P638	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.I390T	ENST00000255266.5	37	c.1169	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322600	0.81580	.	.	ENSG00000132915	ENST00000255266	T	0.74947	-0.89	5.49	5.49	0.81192	GAF (2);	0.052135	0.64402	D	0.000001	D	0.88905	0.6564	M	0.92923	3.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91356	0.5108	10	0.87932	D	0	.	13.8307	0.63380	1.0:0.0:0.0:0.0	.	390	P16499	PDE6A_HUMAN	T	390	ENSP00000255266:I390T	ENSP00000255266:I390T	I	-	2	0	PDE6A	149259225	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	8.910000	0.92685	2.218000	0.71995	0.533000	0.62120	ATT	PDE6A	-	pfam_GAF,smart_GAF	ENSG00000132915		0.428	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	456	0.00	0	A			149279032	149279032	-1	no_errors	ENST00000255266	ensembl	human	known	69_37n	missense	214	38.68	135	SNP	1.000	G
PDE9A	5152	genome.wustl.edu	37	21	44195538	44195538	+	3'UTR	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:44195538delA	ENST00000291539.6	+	0	1977				PDE9A_ENST00000398234.3_3'UTR|PDE9A_ENST00000398232.3_3'UTR|PDE9A_ENST00000398229.3_3'UTR|PDE9A_ENST00000398225.3_3'UTR|PDE9A_ENST00000380328.2_3'UTR|PDE9A_ENST00000335440.6_3'UTR|PDE9A_ENST00000539837.1_3'UTR|PDE9A_ENST00000398224.3_3'UTR|PDE9A_ENST00000335512.4_3'UTR|PDE9A_ENST00000398227.3_3'UTR|PDE9A_ENST00000398236.3_3'UTR|PDE9A_ENST00000349112.3_3'UTR|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000328862.6_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TCACTGATACAAAAAAAAAAA	0.398																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.*135A>-	21.37:g.44195538delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	RNA	DEL	-	NULL	ENST00000291539.6	37	NULL	CCDS13690.1	21																																																																																			PDE9A	-	-	ENSG00000160191		0.398	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	17	0.00	0	A			44195538	44195538	+1	no_errors	ENST00000460989	ensembl	human	known	69_37n	rna	8	47.83	11	DEL	0.000	-
PDHA2	5161	genome.wustl.edu	37	4	96762388	96762388	+	Missense_Mutation	SNP	G	G	T	rs145153402		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:96762388G>T	ENST00000295266.4	+	1	1150	c.1087G>T	c.(1087-1089)Ggc>Tgc	p.G363C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	363					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GGAAGAATTAGGCCATCACAT	0.433																																						dbGAP											0													127.0	114.0	119.0					4																	96762388		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1087G>T	4.37:g.96762388G>T	ENSP00000295266:p.Gly363Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.G363C	ENST00000295266.4	37	c.1087	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	2.049	-0.418173	0.04766	.	.	ENSG00000163114	ENST00000295266	T	0.72725	-0.68	5.04	3.26	0.37387	.	0.291441	0.38778	N	0.001575	T	0.48960	0.1529	N	0.11064	0.09	0.09310	N	1	B	0.18461	0.028	B	0.21708	0.036	T	0.38351	-0.9665	10	0.36615	T	0.2	-11.9191	8.8415	0.35144	0.0837:0.1504:0.7658:0.0	.	363	P29803	ODPAT_HUMAN	C	363	ENSP00000295266:G363C	ENSP00000295266:G363C	G	+	1	0	PDHA2	96981411	1.000000	0.71417	0.001000	0.08648	0.070000	0.16714	3.050000	0.49877	0.793000	0.33875	0.563000	0.77884	GGC	PDHA2	-	tigrfam_Pyrv_DH_E1_asu_subgrp-y	ENSG00000163114		0.433	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	295	0.34	1	G			96762388	96762388	+1	no_errors	ENST00000295266	ensembl	human	known	69_37n	missense	129	42.92	97	SNP	0.085	T
PDIA5	10954	genome.wustl.edu	37	3	122842912	122842912	+	Splice_Site	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:122842912G>T	ENST00000316218.7	+	9	704		c.e9-1			NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CTTCCTCCCAGGTGCTGGCCG	0.557																																						dbGAP											0													45.0	44.0	44.0					3																	122842912		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.610-1G>T	3.37:g.122842912G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN95|Q9BV43	Splice_Site	SNP	-	e9-1	ENST00000316218.7	37	c.610-1	CCDS3020.1	3	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702756	0.68501	.	.	ENSG00000065485	ENST00000316218	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2668	0.87089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDIA5	124325602	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	8.478000	0.90428	2.735000	0.93741	0.655000	0.94253	.	PDIA5	-	-	ENSG00000065485		0.557	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	80	0.00	0	G	NM_006810	Intron	122842912	122842912	+1	no_errors	ENST00000316218	ensembl	human	known	69_37n	splice_site	60	38.78	38	SNP	1.000	T
PDPK1	5170	genome.wustl.edu	37	16	2607944	2607944	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:2607944delG	ENST00000342085.4	+	2	414	c.265delG	c.(265-267)gggfs	p.G89fs	PDPK1_ENST00000354836.5_Frame_Shift_Del_p.G89fs|PDPK1_ENST00000389224.3_Frame_Shift_Del_p.G62fs|RP11-20I23.11_ENST00000569220.1_RNA|RP11-20I23.13_ENST00000563449.2_RNA|PDPK1_ENST00000268673.7_Frame_Shift_Del_p.G89fs|PDPK1_ENST00000441549.3_Frame_Shift_Del_p.G89fs	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GAAAATCCTTGGGGAAGGCTC	0.617																																						dbGAP											0													51.0	58.0	56.0					16																	2607944		2134	4198	6332	-	-	-	SO:0001589	frameshift_variant	0			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.265delG	16.37:g.2607944delG	ENSP00000344220:p.Gly89fs	Somatic		WXS	Illumina GAIIx	Phase_IV	H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Frame_Shift_Del	DEL	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.E90fs	ENST00000342085.4	37	c.265	CCDS10472.1	16																																																																																			PDPK1	-	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	ENSG00000140992		0.617	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPK1	HGNC	protein_coding	OTTHUMT00000250831.3	133	0.00	0	G			2607944	2607944	+1	no_errors	ENST00000342085	ensembl	human	known	69_37n	frame_shift_del	120	11.59	16	DEL	1.000	-
PDPR	55066	genome.wustl.edu	37	16	70190438	70190438	+	Missense_Mutation	SNP	C	C	T	rs201382204	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:70190438C>T	ENST00000288050.4	+	19	3253	c.2296C>T	c.(2296-2298)Cgc>Tgc	p.R766C	RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Missense_Mutation_p.R124C|RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000568530.1_Missense_Mutation_p.R766C|PDPR_ENST00000542659.1_Missense_Mutation_p.R111C|PDPR_ENST00000398122.3_Missense_Mutation_p.R666C|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	766					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGTGTATAAACGCCTCACCAT	0.527													C|||	2	0.000399361	0.0008	0.0	5008	,	,		30849	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													179.0	197.0	191.0					16																	70190438		2077	4220	6297	-	-	-	SO:0001583	missense	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2296C>T	16.37:g.70190438C>T	ENSP00000288050:p.Arg766Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.R766C	ENST00000288050.4	37	c.2296	CCDS45520.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	25.7	4.661524	0.88154	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;T	0.80214	-1.35;-1.35;-1.35	6.03	6.03	0.97812	Glycine cleavage T-protein, C-terminal barrel (1);	0.055348	0.64402	D	0.000001	D	0.92312	0.7561	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.92721	0.6191	10	0.62326	D	0.03	.	19.5634	0.95382	0.0:1.0:0.0:0.0	.	433;766	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	C	766;666;433;111	ENSP00000288050:R766C;ENSP00000381190:R666C;ENSP00000441690:R111C	ENSP00000205055:R433C	R	+	1	0	PDPR	68747939	1.000000	0.71417	0.970000	0.41538	0.941000	0.58515	5.958000	0.70330	2.868000	0.98415	0.557000	0.71058	CGC	PDPR	-	pfam_GCV_T_C	ENSG00000090857		0.527	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	125	0.00	0	C	NM_017990		70190438	70190438	+1	no_errors	ENST00000288050	ensembl	human	known	69_37n	missense	27	77.50	93	SNP	1.000	T
PEAR1	375033	genome.wustl.edu	37	1	156882381	156882381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:156882381delC	ENST00000338302.3	+	18	2401	c.2176delC	c.(2176-2178)cccfs	p.P727fs	PEAR1_ENST00000292357.7_Frame_Shift_Del_p.P727fs			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	727					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGTGTATGTCCCCCAGGGCA	0.602																																						dbGAP											0													90.0	98.0	95.0					1																	156882381		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2176delC	1.37:g.156882381delC	ENSP00000344465:p.Pro727fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEK2	Frame_Shift_Del	DEL	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.P727fs	ENST00000338302.3	37	c.2176	CCDS30892.1	1																																																																																			PEAR1	-	smart_EGF-like	ENSG00000187800		0.602	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	113	0.00	0	C	NM_001080471		156882381	156882381	+1	no_errors	ENST00000292357	ensembl	human	known	69_37n	frame_shift_del	92	30.15	41	DEL	1.000	-
PEG3	5178	genome.wustl.edu	37	19	57328153	57328153	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:57328153G>A	ENST00000326441.9	-	10	2020	c.1657C>T	c.(1657-1659)Ctt>Ttt	p.L553F	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.L553F|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.L427F|PEG3_ENST00000598410.1_Missense_Mutation_p.L429F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	553					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTTTCTGAAGCTCACTAAAG	0.438																																						dbGAP											0													146.0	139.0	141.0					19																	57328153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1657C>T	19.37:g.57328153G>A	ENSP00000326581:p.Leu553Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L553F	ENST00000326441.9	37	c.1657	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895460	0.52121	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02787	4.16;4.16	4.14	4.14	0.48551	.	0.000000	0.41294	D	0.000910	T	0.09686	0.0238	L	0.43923	1.385	.	.	.	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.963;0.994;0.998	T	0.20140	-1.0284	9	0.40728	T	0.16	-30.5958	14.7172	0.69277	0.0:0.0:1.0:0.0	.	429;553;488	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	F	553	ENSP00000326581:L553F;ENSP00000403051:L553F	ENSP00000326581:L553F	L	-	1	0	ZIM2	62019965	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.140000	0.58031	2.596000	0.87737	0.650000	0.86243	CTT	PEG3	-	NULL	ENSG00000198300		0.438	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	391	0.26	1	G			57328153	57328153	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	200	41.69	143	SNP	0.998	A
PER1	5187	genome.wustl.edu	37	17	8051087	8051087	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:8051087G>A	ENST00000317276.4	-	11	1530	c.1293C>T	c.(1291-1293)aaC>aaT	p.N431N	PER1_ENST00000581082.1_Silent_p.N411N|PER1_ENST00000354903.5_Silent_p.N415N|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	431	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CATACTCCCCGTTGCGGGCAC	0.607			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													40.0	40.0	40.0					17																	8051087		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1293C>T	17.37:g.8051087G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.N431	ENST00000317276.4	37	c.1293	CCDS11131.1	17																																																																																			PER1	-	pfam_PAS_fold_3	ENSG00000179094		0.607	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	22	0.00	0	G			8051087	8051087	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	silent	24	36.84	14	SNP	0.990	A
PES1	23481	genome.wustl.edu	37	22	30985232	30985232	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:30985232T>C	ENST00000354694.7	-	2	156	c.50A>G	c.(49-51)tAc>tGc	p.Y17C	PES1_ENST00000402281.1_5'UTR|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.Y17C|PES1_ENST00000402284.3_Missense_Mutation_p.Y17C	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCGGGTGATGTAGTTGGTGGC	0.498																																						dbGAP											0													74.0	62.0	66.0					22																	30985232		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000354694.7:c.50A>G	22.37:g.30985232T>C	ENSP00000346725:p.Tyr17Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Y17C	ENST00000354694.7	37	c.50	CCDS13880.1	22	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444013	0.83993	.	.	ENSG00000100029	ENST00000354694;ENST00000402284;ENST00000335214;ENST00000433575	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.988;0.997	D	0.84518	0.0626	10	0.87932	D	0	-20.3168	14.2138	0.65781	0.0:0.0:0.0:1.0	.	17;17;17;17	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	C	17	ENSP00000346725:Y17C;ENSP00000384252:Y17C;ENSP00000334612:Y17C;ENSP00000388071:Y17C	ENSP00000334612:Y17C	Y	-	2	0	PES1	29315232	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.100000	0.76989	2.041000	0.60428	0.529000	0.55759	TAC	PES1	-	pfam_Pescadillo	ENSG00000100029		0.498	PES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321188.3	30	0.00	0	T	NM_014303		30985232	30985232	-1	no_errors	ENST00000354694	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	1.000	C
PEX1	5189	genome.wustl.edu	37	7	92147497	92147498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:92147497_92147498insA	ENST00000248633.4	-	4	524_525	c.429_430insT	c.(427-432)tttcctfs	p.P144fs	PEX1_ENST00000541751.1_5'Flank|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Ins_p.P144fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	144					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ACCCAAACAGGAAAAATGGCTT	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.430dupT	7.37:g.92147502_92147502dupA	ENSP00000248633:p.Pro144fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.P143fs	ENST00000248633.4	37	c.430_429	CCDS5627.1	7																																																																																			PEX1	-	pfam_PEX-1N	ENSG00000127980		0.356	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	HGNC	protein_coding	OTTHUMT00000254066.3	147	0.00	0	-	NM_000466		92147497	92147498	-1	no_errors	ENST00000248633	ensembl	human	known	69_37n	frame_shift_ins	84	39.13	54	INS	1.000:1.000	A
PEX11B	8799	genome.wustl.edu	37	1	145522532	145522532	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:145522532C>T	ENST00000369306.3	+	4	542	c.393C>T	c.(391-393)ctC>ctT	p.L131L	PEX11B_ENST00000537888.1_Silent_p.L117L|ITGA10_ENST00000369304.3_5'Flank|ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	131					peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTTTTCCCTCATCATGAATT	0.428																																						dbGAP											0													194.0	181.0	186.0					1																	145522532		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.393C>T	1.37:g.145522532C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN85|B4DXH9|Q96ET2	Silent	SNP	pfam_PEX11	p.L131	ENST00000369306.3	37	c.393	CCDS917.1	1																																																																																			PEX11B	-	pfam_PEX11	ENSG00000131779		0.428	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX11B	HGNC	protein_coding	OTTHUMT00000038549.1	416	0.00	0	C	NM_003846		145522532	145522532	+1	no_errors	ENST00000369306	ensembl	human	known	69_37n	silent	489	23.23	148	SNP	1.000	T
PFKFB3	5209	genome.wustl.edu	37	10	6268275	6268275	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:6268275G>A	ENST00000379775.4	+	14	1792	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	PFKFB3_ENST00000379789.4_Missense_Mutation_p.A468T|PFKFB3_ENST00000379782.3_Missense_Mutation_p.A488T|PFKFB3_ENST00000540253.1_Missense_Mutation_p.A502T|PFKFB3_ENST00000317350.4_Missense_Mutation_p.A488T|PFKFB3_ENST00000360521.2_Missense_Mutation_p.A488T|PFKFB3_ENST00000379785.1_Missense_Mutation_p.A488T|PFKFB3_ENST00000536985.1_3'UTR	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	488	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CTCCACCTCGGCCGCCCTGCC	0.662																																						dbGAP											0													64.0	70.0	68.0					10																	6268275		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1462G>A	10.37:g.6268275G>A	ENSP00000369100:p.Ala488Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.A502T	ENST00000379775.4	37	c.1504	CCDS7078.1	10	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154386	0.57259	.	.	ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000379781;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499;ENST00000414237	.	.	.	5.24	3.36	0.38483	.	0.290160	0.38663	N	0.001610	T	0.43055	0.1230	L	0.40543	1.245	0.46185	D	0.998914	B;B;B;B	0.30763	0.024;0.034;0.294;0.003	B;B;B;B	0.27887	0.006;0.04;0.084;0.003	T	0.32214	-0.9915	9	0.35671	T	0.21	-3.9867	7.6423	0.28300	0.149:0.0:0.712:0.139	.	502;488;488;468	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	T	468;502;82;488;488;488;488;488;488;57	.	ENSP00000369105:A488T	A	+	1	0	PFKFB3	6308281	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	3.986000	0.56937	1.211000	0.43351	0.655000	0.94253	GCC	PFKFB3	-	NULL	ENSG00000170525		0.662	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PFKFB3	HGNC	protein_coding	OTTHUMT00000046647.1	42	0.00	0	G			6268275	6268275	+1	no_errors	ENST00000540253	ensembl	human	known	69_37n	missense	15	64.29	27	SNP	1.000	A
PGBD5	79605	genome.wustl.edu	37	1	230513306	230513306	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:230513306G>T	ENST00000525115.1	-	1	85	c.62C>A	c.(61-63)cCt>cAt	p.P21H	PGBD5_ENST00000391860.1_Intron|PGBD5_ENST00000321327.2_Missense_Mutation_p.P21H			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	21						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTGCAGCTCAGGTCCTGCAGA	0.552																																						dbGAP											0													69.0	56.0	60.0					1																	230513306		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.62C>A	1.37:g.230513306G>T	ENSP00000431404:p.Pro21His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.P21H	ENST00000525115.1	37	c.62		1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472333	0.26423	.	.	ENSG00000177614	ENST00000321327;ENST00000525115	T;T	0.51574	0.7;2.07	0.807	0.807	0.18714	.	.	.	.	.	T	0.39332	0.1074	N	0.08118	0	0.09310	N	1	D	0.63046	0.992	P	0.61722	0.893	T	0.18209	-1.0344	9	0.87932	D	0	.	4.9253	0.13891	0.0:0.0:1.0:0.0	.	21	Q8N414	PGBD5_HUMAN	H	21	ENSP00000322530:P21H;ENSP00000431404:P21H	ENSP00000322530:P21H	P	-	2	0	PGBD5	228579929	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	0.019000	0.13444	0.716000	0.32124	0.505000	0.49811	CCT	PGBD5	-	NULL	ENSG00000177614		0.552	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	38	0.00	0	G	NM_024554		230513306	230513306	-1	no_errors	ENST00000321327	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	0.005	T
PHACTR1	221692	genome.wustl.edu	37	6	13228273	13228273	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:13228273C>T	ENST00000379350.1	+	8	1341	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.D404D|PHACTR1_ENST00000457702.2_Silent_p.D259D			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	404					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGGACGAAGACGACGACAGCT	0.478																																						dbGAP											0													97.0	102.0	101.0					6																	13228273		2053	4196	6249	-	-	-	SO:0001819	synonymous_variant	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1212C>T	6.37:g.13228273C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.T239M	ENST00000379350.1	37	c.716		6	.	.	.	.	.	.	.	.	.	.	c	3.266	-0.150137	0.06585	.	.	ENSG00000112137	ENST00000415087	.	.	.	5.76	-10.0	0.00425	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54430	-0.8295	4	.	.	.	-6.407	9.1394	0.36894	0.0:0.2978:0.3126:0.3896	.	.	.	.	M	239	.	.	T	+	2	0	PHACTR1	13336252	0.002000	0.14202	0.047000	0.18901	0.637000	0.38172	-1.702000	0.01901	-2.566000	0.00470	-2.109000	0.00356	ACG	PHACTR1	-	NULL	ENSG00000112137		0.478	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039876.1	142	0.00	0	C	XM_166420		13228273	13228273	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415087	ensembl	human	known	69_37n	missense	83	43.62	65	SNP	0.093	T
PHIP	55023	genome.wustl.edu	37	6	79675691	79675691	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:79675691A>G	ENST00000275034.4	-	28	3455	c.3288T>C	c.(3286-3288)ccT>ccC	p.P1096P	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1096	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.P1096P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACAGACTATCAGGGTACTCAA	0.393																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											143.0	152.0	149.0					6																	79675691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3288T>C	6.37:g.79675691A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.P1096	ENST00000275034.4	37	c.3288	CCDS4987.1	6																																																																																			PHIP	-	NULL	ENSG00000146247		0.393	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	334	0.00	0	A			79675691	79675691	-1	no_errors	ENST00000275034	ensembl	human	known	69_37n	silent	207	35.71	115	SNP	0.981	G
PHIP	55023	genome.wustl.edu	37	6	79692714	79692716	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:79692714_79692716delTTC	ENST00000275034.4	-	23	2823_2825	c.2656_2658delGAA	c.(2656-2658)gaadel	p.E886del	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	886	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		gtttttcagattcttcttcttca	0.35																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2656_2658delGAA	6.37:g.79692723_79692725delTTC	ENSP00000275034:p.Glu886del	Somatic		WXS	Illumina GAIIx	Phase_IV	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	In_Frame_Del	DEL	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E886in_frame_del	ENST00000275034.4	37	c.2658_2656	CCDS4987.1	6																																																																																			PHIP	-	NULL	ENSG00000146247		0.350	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	211	0.00	0	TTC			79692714	79692716	-1	no_errors	ENST00000275034	ensembl	human	known	69_37n	in_frame_del	82	40.15	55	DEL	1.000:1.000:1.000	-
PHKA2	5256	genome.wustl.edu	37	X	18913253	18913253	+	Intron	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:18913253T>C	ENST00000379942.4	-	31	4002				PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTTCTCATCGTACCTCTCGGG	0.527																																						dbGAP											0													148.0	137.0	141.0					X																	18913253		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3336+2A>G	X.37:g.18913253T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	RNA	SNP	-	NULL	ENST00000379942.4	37	NULL	CCDS14190.1	X																																																																																			PHKA2	-	-	ENSG00000044446		0.527	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	48	0.00	0	T	NM_000292		18913253	18913253	-1	no_errors	ENST00000481718	ensembl	human	known	69_37n	rna	38	36.67	22	SNP	0.992	C
PHKA2	5256	genome.wustl.edu	37	X	18969326	18969326	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:18969326T>C	ENST00000379942.4	-	4	1015	c.350A>G	c.(349-351)aAc>aGc	p.N117S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	117					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.N117fs*38(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGTGGCGGTGTTGTACTTGGC	0.607																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)											231.0	148.0	176.0					X																	18969326		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.350A>G	X.37:g.18969326T>C	ENSP00000369274:p.Asn117Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.N117S	ENST00000379942.4	37	c.350	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	T	11.74	1.727585	0.30593	.	.	ENSG00000044446	ENST00000379942	D	0.88586	-2.4	5.61	5.61	0.85477	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.179778	0.64402	D	0.000015	D	0.82926	0.5143	L	0.37507	1.11	0.48762	D	0.999706	B	0.16802	0.019	B	0.21360	0.034	T	0.77316	-0.2633	10	0.08837	T	0.75	-20.3831	14.8437	0.70243	0.0:0.0:0.0:1.0	.	117	P46019	KPB2_HUMAN	S	117	ENSP00000369274:N117S	ENSP00000369274:N117S	N	-	2	0	PHKA2	18879247	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	6.253000	0.72453	1.887000	0.54652	0.486000	0.48141	AAC	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	ENSG00000044446		0.607	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	72	0.00	0	T	NM_000292		18969326	18969326	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	missense	69	34.91	37	SNP	1.000	C
PHKA1	5255	genome.wustl.edu	37	X	71823055	71823055	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:71823055T>C	ENST00000373542.4	-	26	2990	c.2831A>G	c.(2830-2832)gAg>gGg	p.E944G	PHKA1_ENST00000339490.3_Missense_Mutation_p.E944G|PHKA1_ENST00000541944.1_Missense_Mutation_p.E885G|PHKA1_ENST00000373539.3_Missense_Mutation_p.E944G|PHKA1_ENST00000373545.3_Missense_Mutation_p.E885G	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	944					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CATCAGGCCCTCTGTGGCTTC	0.453																																						dbGAP											0													88.0	71.0	77.0					X																	71823055		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2831A>G	X.37:g.71823055T>C	ENSP00000362643:p.Glu944Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.E944G	ENST00000373542.4	37	c.2831	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598903	0.66332	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92099	-2.96;-2.96;-2.97;-2.95;-2.94	5.76	5.76	0.90799	.	0.146589	0.64402	D	0.000012	D	0.95137	0.8424	M	0.90542	3.125	0.54753	D	0.999986	P;P;P	0.49862	0.863;0.507;0.929	B;B;P	0.51866	0.268;0.339;0.682	D	0.95525	0.8598	10	0.66056	D	0.02	-3.2037	12.8424	0.57811	0.0:0.0:0.0:1.0	.	885;944;944	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	G	885;944;885;944;944	ENSP00000362646:E885G;ENSP00000362643:E944G;ENSP00000441251:E885G;ENSP00000342469:E944G;ENSP00000362640:E944G	ENSP00000342469:E944G	E	-	2	0	PHKA1	71739780	1.000000	0.71417	0.827000	0.32855	0.980000	0.70556	7.910000	0.87451	1.940000	0.56252	0.486000	0.48141	GAG	PHKA1	-	NULL	ENSG00000067177		0.453	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	159	0.00	0	T			71823055	71823055	-1	no_errors	ENST00000373539	ensembl	human	known	69_37n	missense	80	48.05	74	SNP	1.000	C
PIAS2	9063	genome.wustl.edu	37	18	44470866	44470866	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:44470866T>C	ENST00000585916.1	-	2	175	c.176A>G	c.(175-177)gAa>gGa	p.E59G	PIAS2_ENST00000324794.7_Missense_Mutation_p.E59G|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	59					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TCTATACAATTCTCGGATTTT	0.468																																						dbGAP											0													74.0	74.0	74.0					18																	44470866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.176A>G	18.37:g.44470866T>C	ENSP00000465676:p.Glu59Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.E59G	ENST00000585916.1	37	c.176	CCDS32824.1	18	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292635	0.80914	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.46819	0.86	6.06	6.06	0.98353	DNA-binding SAP (1);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.78314	0.988;0.979;0.991;0.971	T	0.72994	-0.4122	10	0.87932	D	0	-16.7116	16.6127	0.84892	0.0:0.0:0.0:1.0	.	63;59;59;59	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	G	59;59;55;59	ENSP00000317163:E59G	ENSP00000262161:E59G	E	-	2	0	PIAS2	42724864	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	8.013000	0.88655	2.322000	0.78497	0.528000	0.53228	GAA	PIAS2	-	NULL	ENSG00000078043		0.468	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	232	0.00	0	T	NM_004671		44470866	44470866	-1	no_errors	ENST00000585916	ensembl	human	known	69_37n	missense	45	67.63	94	SNP	1.000	C
PIAS2	9063	genome.wustl.edu	37	18	44470887	44470887	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:44470887G>A	ENST00000585916.1	-	2	154	c.155C>T	c.(154-156)gCg>gTg	p.A52V	PIAS2_ENST00000324794.7_Missense_Mutation_p.A52V|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	52					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AATCTGAACCGCAGGGCTGCA	0.448																																						dbGAP											0													66.0	68.0	67.0					18																	44470887		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.155C>T	18.37:g.44470887G>A	ENSP00000465676:p.Ala52Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.A52V	ENST00000585916.1	37	c.155	CCDS32824.1	18	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606423	0.46527	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.34275	1.37	6.06	5.19	0.71726	DNA-binding SAP (1);	0.110818	0.64402	N	0.000012	T	0.29976	0.0750	L	0.38838	1.175	0.80722	D	1	B;B;B;B	0.25169	0.119;0.008;0.029;0.007	B;B;B;B	0.23018	0.043;0.008;0.029;0.013	T	0.04565	-1.0942	10	0.25106	T	0.35	-4.3726	15.1526	0.72713	0.0671:0.0:0.9329:0.0	.	56;52;52;52	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	V	52;52;48;52	ENSP00000317163:A52V	ENSP00000262161:A52V	A	-	2	0	PIAS2	42724885	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.550000	0.73905	1.578000	0.49821	0.650000	0.86243	GCG	PIAS2	-	NULL	ENSG00000078043		0.448	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	236	0.00	0	G	NM_004671		44470887	44470887	-1	no_errors	ENST00000585916	ensembl	human	known	69_37n	missense	46	69.68	108	SNP	1.000	A
PIBF1	10464	genome.wustl.edu	37	13	73491217	73491217	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:73491217delA	ENST00000326291.6	+	13	1981	c.1643delA	c.(1642-1644)gaafs	p.E548fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	548						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTTCCAGTTGAAAATGAAGAT	0.323																																						dbGAP											0													66.0	68.0	68.0					13																	73491217		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1643delA	13.37:g.73491217delA	ENSP00000317144:p.Glu548fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Frame_Shift_Del	DEL	superfamily_t-SNARE	p.N549fs	ENST00000326291.6	37	c.1643	CCDS31991.1	13																																																																																			PIBF1	-	NULL	ENSG00000083535		0.323	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	160	0.00	0	A	NM_006346		73491217	73491217	+1	no_errors	ENST00000326291	ensembl	human	known	69_37n	frame_shift_del	88	36.88	52	DEL	1.000	-
PIGN	23556	genome.wustl.edu	37	18	59756060	59756060	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:59756060A>G	ENST00000357637.5	-	25	2714	c.2299T>C	c.(2299-2301)Ttc>Ctc	p.F767L	PIGN_ENST00000400334.3_Missense_Mutation_p.F767L	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	767					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TTATAAGAGAACTGGATACTG	0.348																																						dbGAP											0													44.0	41.0	42.0					18																	59756060		1830	4071	5901	-	-	-	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.2299T>C	18.37:g.59756060A>G	ENSP00000350263:p.Phe767Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.F767L	ENST00000357637.5	37	c.2299	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	A	12.44	1.939200	0.34189	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.52526	0.66;0.66	5.78	5.78	0.91487	GPI ethanolamine phosphate transferase 1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	L	0.60904	1.88	0.58432	D	0.999999	P;D	0.60160	0.948;0.987	P;P	0.60286	0.795;0.872	T	0.53322	-0.8455	10	0.10111	T	0.7	-20.5141	15.3863	0.74703	1.0:0.0:0.0:0.0	.	767;767	B2RCI8;O95427	.;PIGN_HUMAN	L	767	ENSP00000350263:F767L;ENSP00000383188:F767L	ENSP00000350263:F767L	F	-	1	0	PIGN	57907040	1.000000	0.71417	0.797000	0.32132	0.389000	0.30415	5.124000	0.64709	2.333000	0.79357	0.482000	0.46254	TTC	PIGN	-	pfam_GPI_EtnP_transferase_1_C	ENSG00000197563		0.348	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	30	0.00	0	A	NM_176787		59756060	59756060	-1	no_errors	ENST00000357637	ensembl	human	known	69_37n	missense	5	68.75	11	SNP	0.997	G
PIK3AP1	118788	genome.wustl.edu	37	10	98469446	98469446	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:98469446C>T	ENST00000339364.5	-	2	427	c.308G>A	c.(307-309)tGc>tAc	p.C103Y		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	103	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCGCACGCCGCAGAGCAGCCT	0.632																																						dbGAP											0													66.0	64.0	65.0					10																	98469446		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.308G>A	10.37:g.98469446C>T	ENSP00000339826:p.Cys103Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.C103Y	ENST00000339364.5	37	c.308	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138894	0.77775	.	.	ENSG00000155629	ENST00000339364	T	0.27720	1.65	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59322	-0.7476	10	0.87932	D	0	-14.8884	15.8175	0.78615	0.0:1.0:0.0:0.0	.	103	Q6ZUJ8	BCAP_HUMAN	Y	103	ENSP00000339826:C103Y	ENSP00000339826:C103Y	C	-	2	0	PIK3AP1	98459436	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.719000	0.68462	2.478000	0.83669	0.655000	0.94253	TGC	PIK3AP1	-	NULL	ENSG00000155629		0.632	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	64	0.00	0	C	NM_152309		98469446	98469446	-1	no_errors	ENST00000339364	ensembl	human	known	69_37n	missense	75	34.21	39	SNP	0.999	T
PIK3C2A	5286	genome.wustl.edu	37	11	17191032	17191033	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:17191032_17191033insT	ENST00000265970.7	-	1	255_256	c.256_257insA	c.(256-258)agafs	p.R86fs	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	86	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ATCTAATGCTCTTTTTTGGGAA	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.257dupA	11.37:g.17191038_17191038dupT	ENSP00000265970:p.Arg86fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH2|B4E2G4|Q14CQ9	Frame_Shift_Ins	INS	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.R86fs	ENST00000265970.7	37	c.257_256	CCDS7824.1	11																																																																																			PIK3C2A	-	NULL	ENSG00000011405		0.386	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	406	0.00	0	-	NM_002645		17191032	17191033	-1	no_errors	ENST00000265970	ensembl	human	known	69_37n	frame_shift_ins	293	32.95	144	INS	0.761:0.979	T
PIK3R2	5296	genome.wustl.edu	37	19	18277081	18277081	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:18277081C>T	ENST00000593731.1	+	12	2088	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	PIK3R2_ENST00000222254.8_Missense_Mutation_p.R510W			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	510					blood coagulation (GO:0007596)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GGAGCGCTTCCGGCGTGAGGG	0.557																																						dbGAP											0													62.0	60.0	61.0					19																	18277081		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1528C>T	19.37:g.18277081C>T	ENSP00000471914:p.Arg510Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EAT5|Q9UPH9	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R510W	ENST00000593731.1	37	c.1528	CCDS12371.1	19	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006649	0.74932	.	.	ENSG00000105647	ENST00000222254	T	0.49139	0.79	4.37	4.37	0.52481	.	0.146336	0.49305	D	0.000156	T	0.64972	0.2647	M	0.77820	2.39	0.58432	D	0.999996	D	0.89917	1.0	P	0.62885	0.908	T	0.69749	-0.5061	10	0.87932	D	0	-48.0313	11.9811	0.53121	0.1734:0.8266:0.0:0.0	.	510	O00459	P85B_HUMAN	W	510	ENSP00000222254:R510W	ENSP00000222254:R510W	R	+	1	2	PIK3R2	18138081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.343000	0.33930	2.378000	0.81104	0.561000	0.74099	CGG	PIK3R2	-	prints_PI3kinase_P85	ENSG00000105647		0.557	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	38	0.00	0	C	NM_005027		18277081	18277081	+1	no_errors	ENST00000222254	ensembl	human	known	69_37n	missense	20	45.95	17	SNP	1.000	T
PIP5K1B	8395	genome.wustl.edu	37	9	71509427	71509427	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:71509427G>A	ENST00000265382.3	+	8	949	c.644G>A	c.(643-645)cGt>cAt	p.R215H	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.R215H	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	215	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGAGCATCCCGTAAAGAGAGA	0.423																																						dbGAP											0													97.0	87.0	90.0					9																	71509427		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.644G>A	9.37:g.71509427G>A	ENSP00000265382:p.Arg215His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R255H	ENST00000265382.3	37	c.764	CCDS6624.1	9	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005763	0.74932	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.29655	1.56;1.56	5.82	5.82	0.92795	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.50120	0.1597	L	0.49256	1.55	0.48236	D	0.999616	D	0.61080	0.989	P	0.60789	0.879	T	0.45041	-0.9288	10	0.87932	D	0	-10.2654	20.1142	0.97922	0.0:0.0:1.0:0.0	.	215	O14986	PI51B_HUMAN	H	215;215;215;162	ENSP00000438082:R215H;ENSP00000265382:R215H	ENSP00000265382:R215H	R	+	2	0	PIP5K1B	70699247	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.509000	0.67012	2.765000	0.95021	0.650000	0.86243	CGT	PIP5K1B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000107242		0.423	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP5K1B	HGNC	protein_coding	OTTHUMT00000052561.2	272	0.00	0	G	NM_003558		71509427	71509427	+1	no_errors	ENST00000478500	ensembl	human	known	69_37n	missense	153	39.04	98	SNP	1.000	A
PITRM1	10531	genome.wustl.edu	37	10	3182906	3182906	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:3182906T>C	ENST00000224949.4	-	24	2778	c.2744A>G	c.(2743-2745)aAt>aGt	p.N915S	PITRM1_ENST00000380989.2_Missense_Mutation_p.N916S|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.N817S|PITRM1_ENST00000380994.1_Missense_Mutation_p.N473S|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	915					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GAAAATCCCATTGTGGCTGAG	0.423																																						dbGAP											0													77.0	75.0	76.0					10																	3182906		1901	4105	6006	-	-	-	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2744A>G	10.37:g.3182906T>C	ENSP00000224949:p.Asn915Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	p.N916S	ENST00000224949.4	37	c.2747	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	t	1.505	-0.550932	0.03996	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35	5.54	-11.1	0.00147	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.755078	0.13679	N	0.370337	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.11329	0.001;0.004;0.002;0.001;0.002;0.006	T	0.36578	-0.9742	10	0.02654	T	1	-5.8667	15.4151	0.74960	0.0:0.1468:0.071:0.7822	.	908;817;916;915;850;908	E9PDX6;E7ES23;C9JSL2;Q5JRX3;E9PDX7;B4DH07	.;.;.;PREP_HUMAN;.;.	S	915;908;916;473;817;96	ENSP00000224949:N915S;ENSP00000370377:N916S;ENSP00000370382:N473S;ENSP00000401201:N817S;ENSP00000399307:N96S	ENSP00000224949:N915S	N	-	2	0	PITRM1	3172906	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.032000	0.03574	-2.896000	0.00313	-1.489000	0.00976	AAT	PITRM1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	ENSG00000107959		0.423	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	33	0.00	0	T			3182906	3182906	-1	no_errors	ENST00000380989	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	0.000	C
PITX2	5308	genome.wustl.edu	37	4	111539778	111539778	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:111539778T>C	ENST00000354925.2	-	7	2162	c.457A>G	c.(457-459)Aag>Gag	p.K153E	PITX2_ENST00000306732.3_Missense_Mutation_p.K160E|PITX2_ENST00000355080.5_Missense_Mutation_p.K107E|PITX2_ENST00000394598.2_Missense_Mutation_p.K153E|PITX2_ENST00000394595.3_Missense_Mutation_p.Q84R|PITX2_ENST00000556049.1_5'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	153					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		AAGCCATTCTTGCATAGCTCG	0.577																																						dbGAP											0													84.0	81.0	82.0					4																	111539778		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.457A>G	4.37:g.111539778T>C	ENSP00000347004:p.Lys153Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.K160E	ENST00000354925.2	37	c.478	CCDS3692.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.173274|5.173274	0.94807|0.94807	.|.	.|.	ENSG00000164093|ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000556049;ENST00000511990|ENST00000394595	D;D;D;D;D;T;D|.	0.93859|.	-2.97;-3.1;-3.23;-3.1;-3.3;-1.23;-2.96|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Homeodomain-like (1);|.	0.093177|.	0.64402|.	D|.	0.000001|.	T|T	0.71804|0.71804	0.3383|0.3383	M|M	0.87758|0.87758	2.905|2.905	0.28050|0.28050	N|N	0.933393|0.933393	D;D;D;D|.	0.63880|.	0.993;0.974;0.993;0.993|.	P;D;D;D|.	0.68943|.	0.864;0.953;0.93;0.961|.	T|T	0.69495|0.69495	-0.5130|-0.5130	10|6	0.52906|0.87932	T|D	0.07|0	.|.	14.7303|14.7303	0.69377|0.69377	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	107;107;153;160|.	A8K6C6;Q99697-3;Q99697;Q99697-2|.	.;.;PITX2_HUMAN;.|.	E|R	160;153;107;153;153;77;107|84	ENSP00000304169:K160E;ENSP00000378097:K153E;ENSP00000347192:K107E;ENSP00000347004:K153E;ENSP00000421454:K153E;ENSP00000450938:K77E;ENSP00000424142:K107E|.	ENSP00000304169:K160E|ENSP00000378095:Q84R	K|Q	-|-	1|2	0|0	PITX2|PITX2	111759227|111759227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.525000|7.525000	0.81892|0.81892	2.121000|2.121000	0.65114|0.65114	0.460000|0.460000	0.39030|0.39030	AAG|CAA	PITX2	-	superfamily_Homeodomain-like,pirsf_Homeobox_Pitx/unc30	ENSG00000164093		0.577	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	127	0.00	0	T			111539778	111539778	-1	no_errors	ENST00000306732	ensembl	human	known	69_37n	missense	84	39.13	54	SNP	1.000	C
PJA1	64219	genome.wustl.edu	37	X	68382257	68382257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:68382257delA	ENST00000361478.1	-	2	1202	c.825delT	c.(823-825)tttfs	p.F275fs	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Frame_Shift_Del_p.F220fs|PJA1_ENST00000374583.1_Frame_Shift_Del_p.F275fs|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	275					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CATCAGTATCAAAAAAAATTT	0.493																																						dbGAP											0													68.0	62.0	64.0					X																	68382257		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.825delT	X.37:g.68382257delA	ENSP00000355014:p.Phe275fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.F275fs	ENST00000361478.1	37	c.825	CCDS14393.1	X																																																																																			PJA1	-	NULL	ENSG00000181191		0.493	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	71	0.00	0	A	NM_145119		68382257	68382257	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	frame_shift_del	62	33.33	32	DEL	0.996	-
PKDREJ	10343	genome.wustl.edu	37	22	46653020	46653020	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:46653020C>A	ENST00000253255.5	-	1	6199	c.6200G>T	c.(6199-6201)aGg>aTg	p.R2067M		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2067					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTGGAATACCTGAGGGTCTT	0.468																																						dbGAP											0													50.0	55.0	53.0					22																	46653020		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6200G>T	22.37:g.46653020C>A	ENSP00000253255:p.Arg2067Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2	p.R2067M	ENST00000253255.5	37	c.6200	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662034	0.67700	.	.	ENSG00000130943	ENST00000253255	T	0.72282	-0.64	5.88	1.39	0.22231	Polycystin cation channel, PKD1/PKD2 (1);	0.380726	0.24803	N	0.035466	T	0.61048	0.2316	M	0.68317	2.08	0.33304	D	0.565164	B	0.27286	0.174	B	0.29942	0.109	T	0.65857	-0.6066	10	0.59425	D	0.04	-20.6261	1.1443	0.01772	0.1695:0.4374:0.1641:0.2289	.	2067	Q9NTG1	PKDRE_HUMAN	M	2067	ENSP00000253255:R2067M	ENSP00000253255:R2067M	R	-	2	0	PKDREJ	45031684	0.036000	0.19791	1.000000	0.80357	0.987000	0.75469	0.867000	0.27968	1.488000	0.48433	0.557000	0.71058	AGG	PKDREJ	-	pfam_PKD1_2_channel,pfam_Ion_trans_dom	ENSG00000130943		0.468	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	60	0.00	0	C	NM_006071		46653020	46653020	-1	no_errors	ENST00000253255	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	0.965	A
PKHD1	5314	genome.wustl.edu	37	6	51512839	51512839	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:51512839T>C	ENST00000371117.3	-	63	11663	c.11388A>G	c.(11386-11388)tcA>tcG	p.S3796S		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3796					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTTTAGCACTGAGTCTGATG	0.418																																						dbGAP											0													121.0	119.0	120.0					6																	51512839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11388A>G	6.37:g.51512839T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.S3796	ENST00000371117.3	37	c.11388	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.418	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	256	0.00	0	T	NM_138694		51512839	51512839	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	silent	131	36.84	77	SNP	0.003	C
PKN3	29941	genome.wustl.edu	37	9	131476616	131476616	+	Nonsense_Mutation	SNP	C	C	T	rs200637064		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:131476616C>T	ENST00000291906.4	+	11	1846	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	485	Pro-rich.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AACAACACTGCGAGAGGCCTC	0.657																																						dbGAP											0													48.0	54.0	52.0					9																	131476616		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1453C>T	9.37:g.131476616C>T	ENSP00000291906:p.Arg485*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM03	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.R485*	ENST00000291906.4	37	c.1453	CCDS6908.1	9	.	.	.	.	.	.	.	.	.	.	C	39	7.835830	0.98516	.	.	ENSG00000160447	ENST00000291906	.	.	.	5.15	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	7.3482	0.26676	0.0:0.8056:0.0:0.1944	.	.	.	.	X	485	.	ENSP00000291906:R485X	R	+	1	2	PKN3	130516437	0.001000	0.12720	0.003000	0.11579	0.031000	0.12232	1.105000	0.31086	0.551000	0.29008	0.563000	0.77884	CGA	PKN3	-	NULL	ENSG00000160447		0.657	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN3	HGNC	protein_coding	OTTHUMT00000054487.1	61	0.00	0	C	NM_013355		131476616	131476616	+1	no_errors	ENST00000291906	ensembl	human	known	69_37n	nonsense	34	33.33	17	SNP	0.001	T
PKP1	5317	genome.wustl.edu	37	1	201289408	201289408	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:201289408G>A	ENST00000352845.3	+	8	1309	c.1309G>A	c.(1309-1311)Gcc>Acc	p.A437T	PKP1_ENST00000367324.3_Missense_Mutation_p.A416T|PKP1_ENST00000263946.3_Missense_Mutation_p.A437T			Q13835	PKP1_HUMAN	plakophilin 1	437					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCTGAGCTCGGCCGATGCAGG	0.597																																						dbGAP											0													53.0	46.0	48.0					1																	201289408		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1309G>A	1.37:g.201289408G>A	ENSP00000295597:p.Ala437Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A437T	ENST00000352845.3	37	c.1309	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925263	0.52759	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.79141	-1.24;-1.24;-1.24	4.81	4.81	0.61882	Armadillo-like helical (1);Armadillo-type fold (1);	0.261722	0.44097	D	0.000494	D	0.87136	0.6102	M	0.74467	2.265	0.22562	N	0.998989	D;P;P	0.59357	0.985;0.782;0.911	D;B;P	0.63793	0.918;0.28;0.505	T	0.81161	-0.1059	10	0.72032	D	0.01	-12.5994	18.2321	0.89937	0.0:0.0:1.0:0.0	.	24;416;437	Q14BN3;Q13835-2;Q13835	.;.;PKP1_HUMAN	T	416;437;437	ENSP00000356293:A416T;ENSP00000263946:A437T;ENSP00000295597:A437T	ENSP00000263946:A437T	A	+	1	0	PKP1	199556031	0.998000	0.40836	0.101000	0.21167	0.515000	0.34225	3.966000	0.56795	2.375000	0.81037	0.591000	0.81541	GCC	PKP1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000081277		0.597	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	21	0.00	0	G	NM_000299		201289408	201289408	+1	no_errors	ENST00000263946	ensembl	human	known	69_37n	missense	47	35.62	26	SNP	0.274	A
PLA2G12B	84647	genome.wustl.edu	37	10	74714323	74714323	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:74714323C>T	ENST00000373032.3	-	1	213	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	41					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TCAAAGCTTCCCCGGAGGTGC	0.567																																						dbGAP											0													113.0	121.0	119.0					10																	74714323		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.121G>A	10.37:g.74714323C>T	ENSP00000362123:p.Gly41Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL23|Q52LB2|Q96Q99	Missense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2	p.G41R	ENST00000373032.3	37	c.121	CCDS7319.1	10	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168764	0.78339	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.54	3.69	0.42338	.	0.267372	0.42548	D	0.000693	T	0.60418	0.2267	L	0.36672	1.1	0.46298	D	0.998977	P;D	0.54047	0.951;0.964	P;P	0.58077	0.71;0.832	T	0.62845	-0.6768	9	0.62326	D	0.03	-6.9067	11.1278	0.48328	0.0:0.8496:0.0:0.1504	.	41;41	B7ZL23;Q9BX93	.;PG12B_HUMAN	R	41	.	ENSP00000362123:G41R	G	-	1	0	PLA2G12B	74384329	0.998000	0.40836	0.991000	0.47740	0.761000	0.43186	3.514000	0.53422	1.339000	0.45563	0.655000	0.94253	GGA	PLA2G12B	-	pfam_PLipase_A2_secretory_G12	ENSG00000138308		0.567	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	HGNC	protein_coding	OTTHUMT00000048598.1	178	0.56	1	C	NM_032562		74714323	74714323	-1	no_errors	ENST00000373032	ensembl	human	known	69_37n	missense	112	37.57	68	SNP	0.999	T
PLA2G2A	5320	genome.wustl.edu	37	1	20304730	20304730	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:20304730G>A	ENST00000375111.3	-	5	457				PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Intron	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)						defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	ACAGTCTAGAGCAGAAGTTCC	0.612																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.186-116C>T	1.37:g.20304730G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	RNA	SNP	-	NULL	ENST00000375111.3	37	NULL	CCDS201.1	1																																																																																			PLA2G2A	-	-	ENSG00000188257		0.612	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2A	HGNC	protein_coding	OTTHUMT00000007675.1	81	0.00	0	G	NM_000300		20304730	20304730	-1	no_errors	ENST00000496748	ensembl	human	known	69_37n	rna	29	53.23	33	SNP	0.176	A
PLB1	151056	genome.wustl.edu	37	2	28763238	28763238	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:28763238C>A	ENST00000327757.5	+	12	748	c.704C>A	c.(703-705)gCa>gAa	p.A235E	PLB1_ENST00000422425.2_Missense_Mutation_p.A246E	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	235	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGCAGCCCTGCACCAGAGCCC	0.587																																						dbGAP											0													56.0	55.0	55.0					2																	28763238		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.704C>A	2.37:g.28763238C>A	ENSP00000330442:p.Ala235Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.A246E	ENST00000327757.5	37	c.737	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.401|6.401	0.442092|0.442092	0.12164|0.12164	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425|ENST00000404858	T;T|.	0.12774|.	2.69;2.65|.	4.47|4.47	-2.18|-2.18	0.07037|0.07037	.|.	1.650180|.	0.02998|.	N|.	0.147738|.	T|T	0.34745|0.34745	0.0908|0.0908	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	P;B|.	0.43094|.	0.799;0.415|.	B;B|.	0.42522|.	0.39;0.196|.	T|T	0.38134|0.38134	-0.9675|-0.9675	10|5	0.30854|.	T|.	0.27|.	7.5509|7.5509	0.1807|0.1807	0.00123|0.00123	0.3048:0.2638:0.1495:0.2819|0.3048:0.2638:0.1495:0.2819	.|.	246;235|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	E|N	235;246|245	ENSP00000330442:A235E;ENSP00000416440:A246E|.	ENSP00000330442:A235E|.	A|H	+|+	2|1	0|0	PLB1|PLB1	28616742|28616742	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.028000|0.028000	0.11728|0.11728	-1.101000|-1.101000	0.03336|0.03336	-0.311000|-0.311000	0.08754|0.08754	0.561000|0.561000	0.74099|0.74099	GCA|CAC	PLB1	-	NULL	ENSG00000163803		0.587	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	31	0.00	0	C			28763238	28763238	+1	no_errors	ENST00000422425	ensembl	human	known	69_37n	missense	24	11.11	3	SNP	0.000	A
PLCB4	5332	genome.wustl.edu	37	20	9353042	9353043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:9353042_9353043insA	ENST00000378493.1	+	8	693_694	c.678_679insA	c.(679-681)aaafs	p.K227fs	PLCB4_ENST00000378501.2_Frame_Shift_Ins_p.K227fs|PLCB4_ENST00000278655.4_Frame_Shift_Ins_p.K227fs|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Frame_Shift_Ins_p.K227fs|PLCB4_ENST00000334005.3_Frame_Shift_Ins_p.K227fs|PLCB4_ENST00000414679.2_Frame_Shift_Ins_p.K227fs			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	227					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGATCTTTTCAAAAAAATGTA	0.312																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.685dupA	20.37:g.9353049_9353049dupA	ENSP00000367754:p.Lys227fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Frame_Shift_Ins	INS	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.I228fs	ENST00000378493.1	37	c.678_679	CCDS13105.1	20																																																																																			PLCB4	-	pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like	ENSG00000101333		0.312	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	97	0.00	0	-			9353042	9353043	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	frame_shift_ins	61	33.70	31	INS	1.000:1.000	A
PLCB4	5332	genome.wustl.edu	37	20	9457374	9457374	+	Intron	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:9457374C>A	ENST00000378493.1	+	35	3474				PLCB4_ENST00000378501.2_Missense_Mutation_p.S1157Y|PLCB4_ENST00000278655.4_Intron|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000334005.3_Missense_Mutation_p.S1157Y|PLCB4_ENST00000414679.2_Intron			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S1157Y(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTTTTGAAATCCTGTCATGCA	0.368																																						dbGAP											1	Substitution - Missense(1)	lung(1)											121.0	110.0	113.0					20																	9457374		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3460-2194C>A	20.37:g.9457374C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S1157Y	ENST00000378493.1	37	c.3470	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717632	0.89205	.	.	ENSG00000101333	ENST00000334005;ENST00000378501	T;T	0.42131	0.98;0.98	5.47	5.47	0.80525	.	0.570297	0.17646	N	0.166856	T	0.55433	0.1920	.	.	.	0.80722	D	1	P	0.47191	0.891	P	0.49999	0.628	T	0.56062	-0.8041	9	0.56958	D	0.05	.	19.6972	0.96030	0.0:1.0:0.0:0.0	.	1157	Q15147-4	.	Y	1157	ENSP00000334105:S1157Y;ENSP00000367762:S1157Y	ENSP00000334105:S1157Y	S	+	2	0	PLCB4	9405374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.136000	0.77285	2.729000	0.93468	0.655000	0.94253	TCC	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.368	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	191	0.00	0	C			9457374	9457374	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	99	37.74	60	SNP	1.000	A
PLCD4	84812	genome.wustl.edu	37	2	219483416	219483416	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:219483416G>A	ENST00000450993.2	+	4	635	c.296G>A	c.(295-297)cGc>cAc	p.R99H	PLCD4_ENST00000417849.1_Missense_Mutation_p.R99H|PLCD4_ENST00000432688.1_Missense_Mutation_p.R99H|U3_ENST00000516996.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	99	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATGGCCGCCGCTCCAACCTG	0.582																																						dbGAP											0													30.0	32.0	32.0					2																	219483416		1982	4147	6129	-	-	-	SO:0001583	missense	0			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.296G>A	2.37:g.219483416G>A	ENSP00000388631:p.Arg99His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FS8	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R99H	ENST00000450993.2	37	c.296	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095482	0.36952	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	T;T;T	0.64085	-0.08;-0.08;-0.08	4.89	4.01	0.46588	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.050243	0.85682	D	0.000000	T	0.80110	0.4563	M	0.87456	2.885	0.33958	D	0.645295	D;D	0.89917	1.0;0.996	D;P	0.69479	0.964;0.9	D	0.87886	0.2681	10	0.56958	D	0.05	.	14.1599	0.65441	0.0:0.151:0.849:0.0	.	46;99	B4DN84;Q9BRC7	.;PLCD4_HUMAN	H	99	ENSP00000388631:R99H;ENSP00000396942:R99H;ENSP00000396185:R99H	ENSP00000251959:R99H	R	+	2	0	PLCD4	219191660	0.988000	0.35896	0.978000	0.43139	0.783000	0.44284	3.616000	0.54174	1.294000	0.44707	-0.150000	0.13652	CGC	PLCD4	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115556		0.582	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	35	0.00	0	G			219483416	219483416	+1	no_errors	ENST00000417849	ensembl	human	known	69_37n	missense	23	47.73	21	SNP	0.946	A
PLCD4	84812	genome.wustl.edu	37	2	219500592	219500592	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:219500592T>C	ENST00000450993.2	+	14	2309	c.1970T>C	c.(1969-1971)gTg>gCg	p.V657A	PLCD4_ENST00000417849.1_Missense_Mutation_p.V657A|PLCD4_ENST00000432688.1_Missense_Mutation_p.V689A|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	657	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGGTGAAAGTGCAGATCTTT	0.542																																						dbGAP											0													78.0	79.0	79.0					2																	219500592		1962	4143	6105	-	-	-	SO:0001583	missense	0			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1970T>C	2.37:g.219500592T>C	ENSP00000388631:p.Val657Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FS8	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.V657A	ENST00000450993.2	37	c.1970	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794709	0.90453	.	.	ENSG00000115556	ENST00000450993;ENST00000417849;ENST00000432688	T;T;T	0.73897	-0.79;-0.79;-0.79	5.37	5.37	0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	M	0.86028	2.79	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.89491	0.3757	10	0.87932	D	0	.	15.5335	0.75983	0.0:0.0:0.0:1.0	.	657	Q9BRC7	PLCD4_HUMAN	A	657;657;689	ENSP00000388631:V657A;ENSP00000396942:V657A;ENSP00000396185:V689A	ENSP00000396942:V657A	V	+	2	0	PLCD4	219208836	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.824000	0.86668	2.254000	0.74563	0.533000	0.62120	GTG	PLCD4	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000115556		0.542	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	48	0.00	0	T			219500592	219500592	+1	no_errors	ENST00000417849	ensembl	human	known	69_37n	missense	36	42.86	27	SNP	1.000	C
PLCH1	23007	genome.wustl.edu	37	3	155203619	155203619	+	Intron	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:155203619A>G	ENST00000340059.7	-	22	2643				PLCH1_ENST00000334686.6_Intron|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Intron|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Intron|PLCH1_ENST00000447496.2_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCATTGAAATATATTCAAACC	0.378																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2644-120T>C	3.37:g.155203619A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	RNA	SNP	-	NULL	ENST00000340059.7	37	NULL	CCDS46939.1	3																																																																																			PLCH1-AS2	-	-	ENSG00000242925		0.378	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1-AS2	HGNC	protein_coding	OTTHUMT00000351125.1	14	0.00	0	A	NM_014996		155203619	155203619	+1	no_errors	ENST00000472913	ensembl	human	putative	69_37n	rna	9	35.71	5	SNP	0.000	G
PLCXD3	345557	genome.wustl.edu	37	5	41382163	41382163	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:41382163C>G	ENST00000377801.3	-	2	651	c.577G>C	c.(577-579)Gtc>Ctc	p.V193L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V193L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	193	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGGTAGAAGACCAGCACTTGA	0.498																																						dbGAP											0													77.0	73.0	75.0					5																	41382163		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.577G>C	5.37:g.41382163C>G	ENSP00000367032:p.Val193Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL04	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.V193L	ENST00000377801.3	37	c.577	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634331	0.87660	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.81	5.81	0.92471	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.053950	0.64402	D	0.000001	T	0.72061	0.3414	L	0.39326	1.205	0.80722	D	1	P	0.49185	0.92	D	0.65443	0.935	T	0.63817	-0.6551	9	0.20519	T	0.43	-19.718	20.0784	0.97758	0.0:1.0:0.0:0.0	.	193	Q63HM9	PLCX3_HUMAN	L	193	.	ENSP00000333751:V193L	V	-	1	0	PLCXD3	41417920	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.687000	0.61708	2.736000	0.93811	0.655000	0.94253	GTC	PLCXD3	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom	ENSG00000182836		0.498	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	200	0.00	0	C	XM_293875		41382163	41382163	-1	no_errors	ENST00000328457	ensembl	human	known	69_37n	missense	122	45.29	101	SNP	1.000	G
PLCZ1	89869	genome.wustl.edu	37	12	18852860	18852860	+	Missense_Mutation	SNP	C	C	T	rs201354911		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:18852860C>T	ENST00000538330.1	-	6	769	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.A348T|PLCZ1_ENST00000539875.1_Missense_Mutation_p.A155T|PLCZ1_ENST00000447925.2_Missense_Mutation_p.A346T|PLCZ1_ENST00000541695.1_Missense_Mutation_p.A211T|PLCZ1_ENST00000435379.1_Missense_Mutation_p.A153T					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCAGATAAGGCCAGAGCAATT	0.269																																						dbGAP											0													32.0	35.0	34.0					12																	18852860		2201	4294	6495	-	-	-	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.388G>A	12.37:g.18852860C>T	ENSP00000445880:p.Ala130Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.A348T	ENST00000538330.1	37	c.1042		12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350528	0.82132	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242	T;T;T;T;T;T;T;T	0.63580	-0.05;0.62;0.62;-0.05;0.62;-0.05;-0.05;0.62	5.88	5.88	0.94601	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.131007	0.50627	D	0.000107	T	0.77398	0.4124	M	0.73598	2.24	0.39251	D	0.964033	P;D	0.61697	0.837;0.99	B;P	0.61800	0.434;0.894	T	0.79981	-0.1574	10	0.62326	D	0.03	.	16.9709	0.86298	0.0:1.0:0.0:0.0	.	348;130	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	T	130;348;346;153;211;155;83;89	ENSP00000445880:A130T;ENSP00000266505:A348T;ENSP00000402358:A346T;ENSP00000400504:A153T;ENSP00000443349:A211T;ENSP00000445026:A155T;ENSP00000445889:A83T;ENSP00000443762:A89T	ENSP00000266505:A348T	A	-	1	0	PLCZ1	18744127	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.005000	0.49521	2.779000	0.95612	0.650000	0.86243	GCC	PLCZ1	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000139151		0.269	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	121	0.00	0	C	NM_033123		18852860	18852860	-1	no_errors	ENST00000266505	ensembl	human	known	69_37n	missense	70	36.94	41	SNP	0.996	T
PLCZ1	89869	genome.wustl.edu	37	12	18852885	18852885	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:18852885C>T	ENST00000538330.1	-	6	745		c.e6-1		PLCZ1_ENST00000542762.1_Splice_Site|PLCZ1_ENST00000266505.7_Splice_Site|PLCZ1_ENST00000539875.1_Splice_Site|PLCZ1_ENST00000447925.2_Splice_Site|PLCZ1_ENST00000541695.1_Splice_Site|PLCZ1_ENST00000435379.1_Splice_Site					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GCTTCCTGGTCTAAAAATAAA	0.274																																						dbGAP											0													27.0	28.0	28.0					12																	18852885		2198	4292	6490	-	-	-	SO:0001630	splice_region_variant	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.364-1G>A	12.37:g.18852885C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e9-1	ENST00000538330.1	37	c.1018-1		12	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182038	0.38511	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242	.	.	.	5.88	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.47547	D	0.99945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2984	0.31999	0.3751:0.4514:0.1735:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCZ1	18744152	0.960000	0.32886	0.097000	0.21041	0.991000	0.79684	1.895000	0.39778	0.118000	0.18165	0.650000	0.86243	.	PLCZ1	-	-	ENSG00000139151		0.274	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	122	0.00	0	C	NM_033123	Intron	18852885	18852885	-1	no_errors	ENST00000266505	ensembl	human	known	69_37n	splice_site	47	45.35	39	SNP	0.418	T
PLEKHA4	57664	genome.wustl.edu	37	19	49364730	49364730	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:49364730G>A	ENST00000263265.6	-	5	849	c.294C>T	c.(292-294)agC>agT	p.S98S	PLEKHA4_ENST00000596713.1_5'Flank|PLEKHA4_ENST00000355496.5_Silent_p.S98S	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	98	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGAGCAGGACGCTGCCTAGGA	0.602																																						dbGAP											0													43.0	53.0	50.0					19																	49364730		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.294C>T	19.37:g.49364730G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4M8|Q8N658	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S98	ENST00000263265.6	37	c.294	CCDS12737.1	19																																																																																			PLEKHA4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000105559		0.602	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	54	0.00	0	G			49364730	49364730	-1	no_errors	ENST00000263265	ensembl	human	known	69_37n	silent	62	38.00	38	SNP	0.982	A
PLEKHA5	54477	genome.wustl.edu	37	12	19410381	19410381	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:19410381delA	ENST00000299275.6	+	6	453	c.447delA	c.(445-447)tcafs	p.S149fs	PLEKHA5_ENST00000359180.3_Frame_Shift_Del_p.S149fs|PLEKHA5_ENST00000309364.4_Frame_Shift_Del_p.S149fs|PLEKHA5_ENST00000424268.1_Frame_Shift_Del_p.S41fs|PLEKHA5_ENST00000317589.4_Frame_Shift_Del_p.S149fs|PLEKHA5_ENST00000538714.1_Frame_Shift_Del_p.S149fs|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000355397.3_Frame_Shift_Del_p.S149fs|PLEKHA5_ENST00000543806.1_Frame_Shift_Del_p.S41fs|PLEKHA5_ENST00000429027.2_Frame_Shift_Del_p.S149fs	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	149					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CACGAGCTTCAAAAAAAGTTC	0.318																																					Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0													72.0	81.0	78.0					12																	19410381		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.447delA	12.37:g.19410381delA	ENSP00000299275:p.Ser149fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.V152fs	ENST00000299275.6	37	c.447	CCDS8682.1	12																																																																																			PLEKHA5	-	NULL	ENSG00000052126		0.318	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	226	0.00	0	A	NM_019012		19410381	19410381	+1	no_errors	ENST00000317589	ensembl	human	known	69_37n	frame_shift_del	108	41.67	80	DEL	0.510	-
PLEKHG2	64857	genome.wustl.edu	37	19	39913629	39913629	+	Silent	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:39913629C>A	ENST00000409794.3	+	18	2785	c.1935C>A	c.(1933-1935)ccC>ccA	p.P645P	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000425673.1_Silent_p.P616P|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000458508.2_Silent_p.P586P	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	645					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGAAATTCCCAGCCGCTGTG	0.522																																						dbGAP											0													87.0	90.0	89.0					19																	39913629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1935C>A	19.37:g.39913629C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P513Q	ENST00000409794.3	37	c.1538	CCDS33022.2	19	.	.	.	.	.	.	.	.	.	.	C	0.877	-0.730040	0.03135	.	.	ENSG00000090924	ENST00000205135	T	0.71817	-0.6	3.88	0.0688	0.14371	.	0.205102	0.24647	N	0.036754	T	0.66499	0.2795	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.60762	-0.7199	7	0.87932	D	0	.	6.4747	0.22028	0.0:0.4474:0.0:0.5526	.	.	.	.	Q	513	ENSP00000205135:P513Q	ENSP00000205135:P513Q	P	+	2	0	PLEKHG2	44605469	0.007000	0.16637	0.023000	0.16930	0.413000	0.31143	-0.319000	0.08039	-0.099000	0.12263	0.467000	0.42956	CCA	PLEKHG2	-	NULL	ENSG00000090924		0.522	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	275	0.00	0	C	NM_022835		39913629	39913629	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000205135	ensembl	human	putative	69_37n	missense	202	41.11	141	SNP	0.038	A
PLXDC2	84898	genome.wustl.edu	37	10	20290837	20290837	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:20290837C>T	ENST00000377252.4	+	2	1087	c.246C>T	c.(244-246)gtC>gtT	p.V82V	PLXDC2_ENST00000377242.3_Silent_p.V82V	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	82					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GAGCAAGCGTCGGCCAAGACT	0.512																																						dbGAP											0													85.0	71.0	76.0					10																	20290837		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.246C>T	10.37:g.20290837C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E59|Q96PD9|Q96SU9	Silent	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	p.V82	ENST00000377252.4	37	c.246	CCDS7132.1	10																																																																																			PLXDC2	-	NULL	ENSG00000120594		0.512	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	68	0.00	0	C	NM_032812		20290837	20290837	+1	no_errors	ENST00000377252	ensembl	human	known	69_37n	silent	36	49.30	35	SNP	0.832	T
PLXNA3	55558	genome.wustl.edu	37	X	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-	rs375310385		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:153688565delG	ENST00000369682.3	+	2	217	c.42delG	c.(40-42)gtgfs	p.V14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTTGCCGTGGGGGGGGCCC	0.682																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)								47,59,3613		1,0,29,16,2,35,20,1525,499	34.0	32.0	33.0			0.6	0.0	X		33	69,109,6290		1,0,27,40,3,50,53,2275,1663	no	codingComplex	PLXNA3	NM_017514.3		2,0,56,56,5,85,73,3800,2162	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.752,2.8502,2.7879			153688565	116,168,9903	2202	4292	6494	-	-	-	SO:0001589	frameshift_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.42delG	X.37:g.153688565delG	ENSP00000358696:p.Val14fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A17fs	ENST00000369682.3	37	c.42	CCDS14752.1	X																																																																																			PLXNA3	-	pfscan_Semaphorin/CD100_Ag	ENSG00000130827		0.682	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	14	0.00	0	G	NM_017514		153688565	153688565	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	frame_shift_del	10	28.57	4	DEL	0.006	-
PM20D1	148811	genome.wustl.edu	37	1	205819040	205819040	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:205819040G>A	ENST00000367136.4	-	1	205	c.161C>T	c.(160-162)gCg>gTg	p.A54V	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	54					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACCTTTCAGCGCCTCTTTCAT	0.617																																						dbGAP											0													80.0	87.0	84.0					1																	205819040		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.161C>T	1.37:g.205819040G>A	ENSP00000356104:p.Ala54Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4E3|Q96DM4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer	p.A54V	ENST00000367136.4	37	c.161	CCDS1460.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792667	0.50102	.	.	ENSG00000162877	ENST00000367136	T	0.07688	3.17	5.41	4.5	0.54988	.	0.250681	0.46758	D	0.000274	T	0.09949	0.0244	M	0.61703	1.905	0.39347	D	0.965683	B	0.23377	0.084	B	0.20577	0.03	T	0.09618	-1.0666	10	0.13853	T	0.58	.	12.0556	0.53533	0.0:0.173:0.827:0.0	.	54	Q6GTS8	P20D1_HUMAN	V	54	ENSP00000356104:A54V	ENSP00000356104:A54V	A	-	2	0	PM20D1	204085663	0.778000	0.28640	0.998000	0.56505	0.879000	0.50718	1.817000	0.39002	1.497000	0.48584	0.655000	0.94253	GCG	PM20D1	-	NULL	ENSG00000162877		0.617	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D1	HGNC	protein_coding	OTTHUMT00000087736.1	65	0.00	0	G	NM_152491		205819040	205819040	-1	no_errors	ENST00000367136	ensembl	human	known	69_37n	missense	104	23.91	33	SNP	0.998	A
POF1B	79983	genome.wustl.edu	37	X	84634291	84634291	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:84634291C>A	ENST00000262753.4	-	2	314	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W	POF1B_ENST00000373145.3_Missense_Mutation_p.G57W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	57						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTCATGGGCCCACTGTAGGTC	0.542																																						dbGAP											0													110.0	85.0	93.0					X																	84634291		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.169G>T	X.37:g.84634291C>A	ENSP00000262753:p.Gly57Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	NULL	p.G57W	ENST00000262753.4	37	c.169	CCDS14452.1	X	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858411	0.71834	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.16457	2.34;2.34	5.67	5.67	0.87782	.	0.139348	0.32952	N	0.005449	T	0.35393	0.0930	L	0.47716	1.5	0.39267	D	0.964323	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12167	-1.0558	10	0.87932	D	0	.	14.0087	0.64481	0.0:1.0:0.0:0.0	.	57;57	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	W	57	ENSP00000262753:G57W;ENSP00000362238:G57W	ENSP00000262753:G57W	G	-	1	0	POF1B	84520947	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	1.941000	0.40233	2.381000	0.81170	0.538000	0.68166	GGG	POF1B	-	NULL	ENSG00000124429		0.542	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POF1B	HGNC	protein_coding	OTTHUMT00000057391.2	72	0.00	0	C	NM_024921		84634291	84634291	-1	no_errors	ENST00000373145	ensembl	human	known	69_37n	missense	53	37.65	32	SNP	0.998	A
PNMA3	29944	genome.wustl.edu	37	X	152225894	152225894	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:152225894A>G	ENST00000370264.4	+	1	508	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	PNMA3_ENST00000447306.1_Missense_Mutation_p.Y161C|PNMA3_ENST00000370265.4_Missense_Mutation_p.Y161C			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	161					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					caaatgttgtaccgagaacta	0.522																																						dbGAP											0													67.0	64.0	65.0					X																	152225894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.482A>G	X.37:g.152225894A>G	ENSP00000359286:p.Tyr161Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWT7|Q9H0A4	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.Y161C	ENST00000370264.4	37	c.482	CCDS35435.2	X	.	.	.	.	.	.	.	.	.	.	a	13.39	2.222208	0.39300	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.17054	2.3;2.3;2.3	1.95	1.95	0.26073	.	.	.	.	.	T	0.29652	0.0740	L	0.52905	1.665	0.09310	N	1	D	0.62365	0.991	D	0.66979	0.948	T	0.05419	-1.0886	9	0.54805	T	0.06	.	5.3388	0.15973	1.0:0.0:0.0:0.0	.	161	Q9UL41	PNMA3_HUMAN	C	161	ENSP00000359288:Y161C;ENSP00000407642:Y161C;ENSP00000359286:Y161C	ENSP00000359286:Y161C	Y	+	2	0	PNMA3	151976550	0.277000	0.24220	0.055000	0.19348	0.403000	0.30841	2.310000	0.43708	1.032000	0.39892	0.341000	0.21757	TAC	PNMA3	-	NULL	ENSG00000183837		0.522	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA3	HGNC	protein_coding	OTTHUMT00000060946.2	69	0.00	0	A	NM_013364		152225894	152225894	+1	no_errors	ENST00000370264	ensembl	human	known	69_37n	missense	39	45.07	32	SNP	0.053	G
PNCK	139728	genome.wustl.edu	37	X	152937644	152937644	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:152937644G>A	ENST00000370150.1	-	4	390	c.212C>T	c.(211-213)cCc>cTc	p.P71L	PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.P71L|PNCK_ENST00000370145.4_Missense_Mutation_p.P88L|PNCK_ENST00000393831.2_Missense_Mutation_p.P71L|PNCK_ENST00000447676.2_Missense_Mutation_p.P154L|PNCK_ENST00000370142.1_Missense_Mutation_p.P71L			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACGATGTTGGGGTGACTGAT	0.627																																						dbGAP											0													102.0	73.0	83.0					X																	152937644		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.212C>T	X.37:g.152937644G>A	ENSP00000359169:p.Pro71Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	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	p.P154L	ENST00000370150.1	37	c.461		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.96|12.96	2.093353|2.093353	0.36952|0.36952	.|.	.|.	ENSG00000130822|ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811;ENST00000434652|ENST00000418241	T;T;T;T;T;T;T;T;T|T	0.53423|0.56444	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;0.62|0.46	5.01|5.01	4.08|4.08	0.47627|0.47627	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.541750|0.541750	0.15527|0.15527	N|N	0.257683|0.257683	T|T	0.79879|0.79879	0.4522|0.4522	H|H	0.97611|0.97611	4.04|4.04	0.45056|0.45056	D|D	0.998076|0.998076	D;D;P;P|.	0.63880|.	0.984;0.993;0.896;0.896|.	P;P;P;P|.	0.59012|.	0.85;0.812;0.673;0.673|.	D|D	0.83703|0.83703	0.0183|0.0183	10|8	0.87932|0.87932	D|D	0|0	-30.3408|-30.3408	9.5772|9.5772	0.39465|0.39465	0.0:0.0:0.5865:0.4135|0.0:0.0:0.5865:0.4135	.|.	98;154;88;71|.	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8|.	.;.;.;KCC1B_HUMAN|.	L|S	71;71;71;71;88;154;71;71;71|78	ENSP00000340586:P71L;ENSP00000359169:P71L;ENSP00000377417:P71L;ENSP00000359161:P71L;ENSP00000359164:P88L;ENSP00000405950:P154L;ENSP00000415770:P71L;ENSP00000391772:P71L;ENSP00000396128:P71L|ENSP00000411267:P78S	ENSP00000340586:P71L|ENSP00000391264:P61S	P|P	-|-	2|1	0|0	PNCK|PNCK	152590838|152590838	0.935000|0.935000	0.31712|0.31712	1.000000|1.000000	0.80357|0.80357	0.020000|0.020000	0.10135|0.10135	1.200000|1.200000	0.32247|0.32247	2.060000|2.060000	0.61445|0.61445	0.529000|0.529000	0.55759|0.55759	CCC|CCA	PNCK	-	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	ENSG00000130822		0.627	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	HGNC	protein_coding	OTTHUMT00000061044.2	39	0.00	0	G	NM_198452		152937644	152937644	-1	no_errors	ENST00000447676	ensembl	human	known	69_37n	missense	19	50.00	19	SNP	1.000	A
POGLUT1	56983	genome.wustl.edu	37	3	119205719	119205719	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:119205719G>A	ENST00000295588.4	+	7	762	c.678G>A	c.(676-678)cgG>cgA	p.R226R		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	226					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TTCTGTCTCGGAAAAACCCAA	0.408																																						dbGAP											0													171.0	173.0	172.0					3																	119205719		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.678G>A	3.37:g.119205719G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD13|Q53GJ4|Q8N2T1	Silent	SNP	pfam_LipoPS_modifying,smart_LipoPS_modifying	p.R226	ENST00000295588.4	37	c.678	CCDS2988.1	3																																																																																			POGLUT1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000163389		0.408	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POGLUT1	HGNC	protein_coding	OTTHUMT00000355034.2	311	0.32	1	G	NM_152305		119205719	119205719	+1	no_errors	ENST00000295588	ensembl	human	known	69_37n	silent	135	41.30	95	SNP	1.000	A
POLN	353497	genome.wustl.edu	37	4	2172884	2172884	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:2172884C>T	ENST00000511885.2	-	12	1752	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.E467K			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	467					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AAATGAGCTTCTTGCTCCAAT	0.323								DNA polymerases (catalytic subunits)																														dbGAP											0													95.0	96.0	96.0					4																	2172884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1399G>A	4.37:g.2172884C>T	ENSP00000435506:p.Glu467Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.E467K	ENST00000511885.2	37	c.1399	CCDS3360.1	4	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404474	0.62288	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	T;T	0.05382	3.45;3.45	5.53	4.67	0.58626	DNA-directed DNA polymerase, family A, palm domain (1);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	L	0.31664	0.95	0.43036	D	0.99461	D;D;B	0.69078	0.984;0.997;0.236	P;P;B	0.61397	0.794;0.888;0.444	T	0.11155	-1.0599	10	0.26408	T	0.33	-27.3088	10.5238	0.44936	0.0:0.9108:0.0:0.0892	.	467;57;467	E7ERY2;C9JDP8;Q7Z5Q5	.;.;DPOLN_HUMAN	K	467;467;158;57	ENSP00000435506:E467K;ENSP00000372316:E467K	ENSP00000253313:E158K	E	-	1	0	POLN	2142682	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.249000	0.43169	2.882000	0.98803	0.655000	0.94253	GAA	POLN	-	pfam_DNA-dir_DNA_pol_A_palm_dom	ENSG00000130997		0.323	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	223	0.00	0	C	NM_181808		2172884	2172884	-1	no_errors	ENST00000382865	ensembl	human	known	69_37n	missense	128	45.30	106	SNP	0.999	T
POLR1A	25885	genome.wustl.edu	37	2	86255901	86255902	+	Intron	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:86255901_86255902insC	ENST00000263857.6	-	32	5158				POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa						gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTGCGTATCTCCCCCTGGCCG	0.569																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4780-67->G	2.37:g.86255906_86255906dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	RNA	INS	-	NULL	ENST00000263857.6	37	NULL	CCDS42706.1	2																																																																																			POLR1A	-	-	ENSG00000068654		0.569	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	25	0.00	0	-	NM_015425		86255901	86255902	-1	no_errors	ENST00000471427	ensembl	human	putative	69_37n	rna	16	36.00	9	INS	0.000:0.000	C
POLR2F	5435	genome.wustl.edu	37	22	38421666	38421666	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:38421666C>A	ENST00000405557.1	+	5	451	c.374C>A	c.(373-375)tCc>tAc	p.S125Y	POLR2F_ENST00000407936.1_Intron			P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	0					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					agcatctcctcccgctgactt	0.557																																						dbGAP											0													28.0	23.0	25.0					22																	38421666		875	1991	2866	-	-	-	SO:0001583	missense	0				CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000405557.1:c.374C>A	22.37:g.38421666C>A	ENSP00000384112:p.Ser125Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	P41584|Q6IAY3	Missense_Mutation	SNP	pfam_RNA_poly_omega/K/RPABC2,superfamily_RNA_poly_omega/K/RPABC2	p.S125Y	ENST00000405557.1	37	c.374		22	.	.	.	.	.	.	.	.	.	.	C	2.012	-0.426878	0.04701	.	.	ENSG00000100142	ENST00000405557	.	.	.	2.88	-0.379	0.12493	.	.	.	.	.	T	0.37865	0.1019	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39623	-0.9605	5	0.87932	D	0	.	5.1231	0.14871	0.0:0.5729:0.0:0.4271	.	.	.	.	Y	125	.	ENSP00000384112:S125Y	S	+	2	0	POLR2F	36751612	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.897000	0.04110	-0.005000	0.14395	-0.379000	0.06801	TCC	POLR2F	-	NULL	ENSG00000100142		0.557	POLR2F-010	PUTATIVE	basic	protein_coding	POLR2F	HGNC	protein_coding	OTTHUMT00000321579.1	80	0.00	0	C	NM_021974		38421666	38421666	+1	no_errors	ENST00000405557	ensembl	human	putative	69_37n	missense	46	38.67	29	SNP	0.000	A
POLR3A	11128	genome.wustl.edu	37	10	79773330	79773330	+	Intron	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:79773330T>C	ENST00000372371.3	-	11	1710				POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTAGTTGTGGTGGTGTTTTCA	0.448																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1572+77A>G	10.37:g.79773330T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW34|Q8TCW5	RNA	SNP	-	NULL	ENST00000372371.3	37	NULL	CCDS7354.1	10																																																																																			POLR3A	-	-	ENSG00000148606		0.448	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	112	0.00	0	T	NM_007055		79773330	79773330	-1	no_errors	ENST00000484760	ensembl	human	known	69_37n	rna	82	38.81	52	SNP	0.007	C
POLR3GL	84265	genome.wustl.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del	Somatic		WXS	Illumina GAIIx	Phase_IV	B1MVG5	In_Frame_Del	DEL	pfam_RNA_pol_III_Rpc31	p.E174in_frame_del	ENST00000369314.1	37	c.521_519	CCDS914.1	1																																																																																			POLR3GL	-	pfam_RNA_pol_III_Rpc31	ENSG00000121851		0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3GL	HGNC	protein_coding	OTTHUMT00000038510.1	99	1.00	1	TCT	NM_032305		145457040	145457042	-1	no_errors	ENST00000369314	ensembl	human	known	69_37n	in_frame_del	146	21.51	40	DEL	1.000:1.000:1.000	-
POLRMT	5442	genome.wustl.edu	37	19	623456	623456	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:623456C>T	ENST00000588649.2	-	6	1372	c.1288G>A	c.(1288-1290)Gcg>Acg	p.A430T	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	430					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCTACCGCGTGCTTGACC	0.701																																						dbGAP											0													40.0	39.0	40.0					19																	623456		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1288G>A	19.37:g.623456C>T	ENSP00000465759:p.Ala430Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.A445T	ENST00000588649.2	37	c.1333	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	11.89	1.774958	0.31411	.	.	ENSG00000099821	ENST00000215591	T	0.43688	0.94	4.36	4.36	0.52297	.	0.153499	0.56097	D	0.000023	T	0.57858	0.2082	M	0.76002	2.32	0.38571	D	0.949936	D	0.89917	1.0	D	0.63488	0.915	T	0.61118	-0.7127	10	0.37606	T	0.19	-49.3443	10.0036	0.41944	0.0:0.9054:0.0:0.0946	.	430	O00411	RPOM_HUMAN	T	430	ENSP00000215591:A430T	ENSP00000215591:A430T	A	-	1	0	POLRMT	574456	0.917000	0.31117	0.909000	0.35828	0.043000	0.13939	1.678000	0.37586	2.133000	0.65898	0.561000	0.74099	GCG	POLRMT	-	NULL	ENSG00000099821		0.701	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	19	0.00	0	C	NM_005035		623456	623456	-1	no_errors	ENST00000588649	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.960	T
POM121	9883	genome.wustl.edu	37	7	72413249	72413249	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:72413249C>T	ENST00000434423.2	+	11	2717	c.2717C>T	c.(2716-2718)gCc>gTc	p.A906V	POM121_ENST00000446813.1_Missense_Mutation_p.A641V|POM121_ENST00000257622.4_Missense_Mutation_p.A641V|POM121_ENST00000395270.1_Missense_Mutation_p.A641V|POM121_ENST00000358357.3_Missense_Mutation_p.A641V			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	906	Pore side. {ECO:0000255}.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGCACACTGCCGTGCCAACG	0.642																																						dbGAP											0													80.0	97.0	92.0					7																	72413249		2115	4261	6376	-	-	-	SO:0001583	missense	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2717C>T	7.37:g.72413249C>T	ENSP00000405562:p.Ala906Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.A906V	ENST00000434423.2	37	c.2717		7	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899006	0.33535	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.08102	3.13;3.16;3.13;3.16;3.38	2.33	2.33	0.28932	.	0.366291	0.19805	N	0.105670	T	0.14399	0.0348	M	0.69358	2.11	0.09310	N	1	D;P	0.55605	0.972;0.89	P;P	0.49853	0.492;0.624	T	0.06110	-1.0845	10	0.40728	T	0.16	.	10.1668	0.42886	0.0:1.0:0.0:0.0	.	641;906	A8MXF9;Q96HA1	.;P121A_HUMAN	V	641;641;641;641;906	ENSP00000393020:A641V;ENSP00000257622:A641V;ENSP00000378687:A641V;ENSP00000351124:A641V;ENSP00000405562:A906V	ENSP00000257622:A641V	A	+	2	0	POM121	72051185	0.004000	0.15560	0.002000	0.10522	0.288000	0.27193	1.174000	0.31932	1.309000	0.44985	0.173000	0.16961	GCC	POM121	-	NULL	ENSG00000196313		0.642	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	69	0.00	0	C			72413249	72413249	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	missense	90	15.89	17	SNP	0.006	T
POMP	51371	genome.wustl.edu	37	13	29236555	29236555	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:29236555A>T	ENST00000380842.4	+	2	93	c.12A>T	c.(10-12)agA>agT	p.R4S	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	4					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		AGAATGCCAGAGGACTTGGAT	0.368																																						dbGAP											0													88.0	90.0	89.0					13																	29236555		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.12A>T	13.37:g.29236555A>T	ENSP00000370222:p.Arg4Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	pfam_UMP1	p.R4S	ENST00000380842.4	37	c.12	CCDS9331.1	13	.	.	.	.	.	.	.	.	.	.	A	14.39	2.519923	0.44866	.	.	ENSG00000132963	ENST00000380842	.	.	.	5.79	2.1	0.27182	.	0.044767	0.85682	D	0.000000	T	0.40222	0.1108	L	0.52759	1.655	0.47659	D	0.999484	P	0.36282	0.546	B	0.26770	0.073	T	0.25745	-1.0123	9	0.72032	D	0.01	-14.7963	9.7448	0.40440	0.7156:0.0:0.2844:0.0	.	4	Q9Y244	POMP_HUMAN	S	4	.	ENSP00000370222:R4S	R	+	3	2	POMP	28134555	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.356000	0.44116	0.116000	0.18110	-1.139000	0.01908	AGA	POMP	-	NULL	ENSG00000132963		0.368	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMP	HGNC	protein_coding	OTTHUMT00000044327.1	140	0.00	0	A	NM_015932		29236555	29236555	+1	no_errors	ENST00000380842	ensembl	human	known	69_37n	missense	74	44.36	59	SNP	0.998	T
POMZP3	22932	genome.wustl.edu	37	7	76247519	76247519	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:76247519G>A	ENST00000310842.4	-	4	1010	c.326C>T	c.(325-327)gCt>gTt	p.A109V	POMZP3_ENST00000275569.4_Missense_Mutation_p.A109V|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	109										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				GGAGTCATTAGCAAAGTGGAA	0.488																																						dbGAP											0													8.0	10.0	9.0					7																	76247519		2054	4026	6080	-	-	-	SO:0001583	missense	0			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.326C>T	7.37:g.76247519G>A	ENSP00000309233:p.Ala109Val	Somatic		WXS	Illumina GAIIx	Phase_IV	F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105	p.A109V	ENST00000310842.4	37	c.326	CCDS43606.1	7	.	.	.	.	.	.	.	.	.	.	-	4.647	0.120219	0.08881	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	D;D	0.81996	-1.56;-1.56	.	.	.	Zona pellucida sperm-binding protein (1);	0.441905	0.24841	U	0.035166	T	0.79381	0.4436	M	0.62266	1.93	0.23003	N	0.998448	P	0.40282	0.711	B	0.43103	0.408	T	0.69057	-0.5246	8	0.44086	T	0.13	.	.	.	.	.	109	Q6PJE2	POZP3_HUMAN	V	109;109;214	ENSP00000309233:A109V;ENSP00000405319:A214V	ENSP00000275569:A109V	A	-	2	0	POMZP3	76085455	0.842000	0.29525	0.730000	0.30809	0.691000	0.40173	0.134000	0.15932	0.392000	0.25172	0.391000	0.25812	GCT	POMZP3	-	pfam_Zona_pellucida_Endoglin/CD105	ENSG00000146707		0.488	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMZP3	HGNC	protein_coding	OTTHUMT00000341775.1	41	0.00	0	G	NM_012230		76247519	76247519	-1	no_errors	ENST00000310842	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.790	A
POP1	10940	genome.wustl.edu	37	8	99169885	99169885	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:99169885C>T	ENST00000401707.2	+	16	2542	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S	POP1_ENST00000349693.3_Missense_Mutation_p.P821S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	821					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTGGTGTGGGCCCAGTTCTGA	0.517																																						dbGAP											0													45.0	49.0	48.0					8																	99169885		2203	4299	6502	-	-	-	SO:0001583	missense	0			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2461C>T	8.37:g.99169885C>T	ENSP00000385787:p.Pro821Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W9|Q15037	Missense_Mutation	SNP	pfam_RNase_P/MRP_POP1,pfam_POPLD	p.P821S	ENST00000401707.2	37	c.2461	CCDS6277.1	8	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130424	0.77549	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.44881	0.91;0.91	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.68952	2.095	0.53688	D	0.999972	D	0.89917	1.0	D	0.76071	0.987	T	0.65005	-0.6273	10	0.56958	D	0.05	-2.0843	17.3564	0.87337	0.0:1.0:0.0:0.0	.	821	Q99575	POP1_HUMAN	S	821	ENSP00000385787:P821S;ENSP00000339529:P821S	ENSP00000339529:P821S	P	+	1	0	POP1	99239061	0.999000	0.42202	0.929000	0.37066	0.767000	0.43475	4.553000	0.60753	2.533000	0.85409	0.557000	0.71058	CCC	POP1	-	NULL	ENSG00000104356		0.517	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP1	HGNC	protein_coding	OTTHUMT00000379470.1	247	0.00	0	C	NM_015029		99169885	99169885	+1	no_errors	ENST00000349693	ensembl	human	known	69_37n	missense	163	33.33	82	SNP	0.997	T
POTEJ	653781	genome.wustl.edu	37	2	131414454	131414454	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:131414454delG	ENST00000409602.1	+	15	2173	c.2121delG	c.(2119-2121)atgfs	p.M707fs		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	707	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						AGGGCATGATGGGGGGCATGC	0.622																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.2121delG	2.37:g.131414454delG	ENSP00000387176:p.Met707fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.G709fs	ENST00000409602.1	37	c.2121	CCDS59432.1	2																																																																																			POTEJ	-	pfam_Actin-like,smart_Actin-like	ENSG00000222038		0.622	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEJ	HGNC	protein_coding	OTTHUMT00000333665.1	38	0.00	0	G	XM_929706		131414454	131414454	+1	no_errors	ENST00000409602	ensembl	human	novel	69_37n	frame_shift_del	16	55.26	21	DEL	1.000	-
POU2F2	5452	genome.wustl.edu	37	19	42598028	42598028	+	Missense_Mutation	SNP	G	G	A	rs200445754		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:42598028G>A	ENST00000526816.2	-	12	1166	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	POU2F2_ENST00000529952.1_Missense_Mutation_p.A384V|POU2F2_ENST00000342301.4_Missense_Mutation_p.A384V|POU2F2_ENST00000529067.1_Missense_Mutation_p.A368V|POU2F2_ENST00000560398.1_Missense_Mutation_p.A390V|POU2F2_ENST00000389341.5_Missense_Mutation_p.A368V|POU2F2_ENST00000533720.1_Missense_Mutation_p.A368V|POU2F2_ENST00000560558.1_Missense_Mutation_p.A329V			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	384					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TAAGGTCCCCGCGCCCCCTTG	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													123.0	111.0	115.0					19																	42598028		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1151C>T	19.37:g.42598028G>A	ENSP00000431603:p.Ala384Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.A384V	ENST00000526816.2	37	c.1151	CCDS56095.1	19	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.8	4.055836	0.76074	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;T;D	0.83335	-1.65;-1.71;-1.67;-1.37;-1.64	3.98	2.85	0.33270	.	1.855620	0.02611	N	0.102207	T	0.69931	0.3166	N	0.14661	0.345	0.29705	N	0.839877	B;P;B	0.47253	0.125;0.892;0.125	B;B;B	0.32677	0.049;0.15;0.049	T	0.67425	-0.5674	10	0.34782	T	0.22	.	13.2008	0.59767	0.0:0.1621:0.8379:0.0	.	368;384;368	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	V	368;384;384;368;383;368;384	ENSP00000373992:A368V;ENSP00000339369:A384V;ENSP00000437221:A368V;ENSP00000437224:A368V;ENSP00000436988:A384V	ENSP00000292077:A384V	A	-	2	0	POU2F2	47289868	0.954000	0.32549	0.999000	0.59377	0.973000	0.67179	1.814000	0.38972	2.236000	0.73375	0.561000	0.74099	GCG	POU2F2	-	NULL	ENSG00000028277		0.617	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	223	0.00	0	G			42598028	42598028	-1	no_errors	ENST00000342301	ensembl	human	known	69_37n	missense	128	44.10	101	SNP	0.974	A
POU3F4	5456	genome.wustl.edu	37	X	82763673	82763673	+	Frame_Shift_Del	DEL	G	G	-	rs111033343		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:82763673delG	ENST00000373200.2	+	1	405	c.341delG	c.(340-342)tggfs	p.W114fs	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	114					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CCCAACGCCTGGGGGGCCAGC	0.652																																						dbGAP											0													33.0	32.0	32.0					X																	82763673		2196	4298	6494	-	-	-	SO:0001589	frameshift_variant	0			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.341delG	X.37:g.82763673delG	ENSP00000362296:p.Trp114fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC71|Q5H9G9|Q99410	Frame_Shift_Del	DEL	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.A116fs	ENST00000373200.2	37	c.341	CCDS14450.1	X																																																																																			POU3F4	-	pirsf_Transcription_factor_POU	ENSG00000196767		0.652	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	54	0.00	0	G	NM_000307		82763673	82763673	+1	no_errors	ENST00000373200	ensembl	human	known	69_37n	frame_shift_del	36	44.78	30	DEL	1.000	-
PPAT	5471	genome.wustl.edu	37	4	57272783	57272783	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:57272783A>G	ENST00000264220.2	-	3	417	c.280T>C	c.(280-282)Tat>Cat	p.Y94H	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	94	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	GTGGTGGCATACCTGGTGTGT	0.373																																						dbGAP											0													118.0	99.0	105.0					4																	57272783		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.280T>C	4.37:g.57272783A>G	ENSP00000264220:p.Tyr94His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GATase_dom,pfam_PRibTrfase,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	p.Y94H	ENST00000264220.2	37	c.280	CCDS3505.1	4	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639033	0.67130	.	.	ENSG00000128059	ENST00000264220	T	0.78707	-1.2	5.63	5.63	0.86233	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96123	0.9086	10	0.87932	D	0	-25.4514	15.8422	0.78857	1.0:0.0:0.0:0.0	.	94	Q06203	PUR1_HUMAN	H	94	ENSP00000264220:Y94H	ENSP00000264220:Y94H	Y	-	1	0	PPAT	56967540	1.000000	0.71417	0.654000	0.29608	0.398000	0.30690	8.910000	0.92685	2.141000	0.66446	0.482000	0.46254	TAT	PPAT	-	pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	ENSG00000128059		0.373	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAT	HGNC	protein_coding	OTTHUMT00000250781.2	156	0.00	0	A	NM_002703		57272783	57272783	-1	no_errors	ENST00000264220	ensembl	human	known	69_37n	missense	82	36.43	47	SNP	1.000	G
PPIL1	51645	genome.wustl.edu	37	6	36823699	36823699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:36823699G>A	ENST00000373699.5	-	4	642	c.391C>T	c.(391-393)Cga>Tga	p.R131*	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	131	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						TGACACACTCGGCCAAAAATG	0.557																																						dbGAP											0													98.0	86.0	90.0					6																	36823699		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.391C>T	6.37:g.36823699G>A	ENSP00000362803:p.Arg131*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15001|Q5TDC9	Nonsense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R131*	ENST00000373699.5	37	c.391	CCDS4826.1	6	.	.	.	.	.	.	.	.	.	.	G	38	6.972748	0.97975	.	.	ENSG00000137168	ENST00000373699	.	.	.	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0442	0.64695	0.0:0.1524:0.8476:0.0	.	.	.	.	X	131	.	ENSP00000362803:R131X	R	-	1	2	PPIL1	36931677	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.147000	0.64851	1.295000	0.44724	0.650000	0.86243	CGA	PPIL1	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000137168		0.557	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL1	HGNC	protein_coding	OTTHUMT00000040382.1	131	0.00	0	G			36823699	36823699	-1	no_errors	ENST00000373699	ensembl	human	known	69_37n	nonsense	67	34.31	35	SNP	1.000	A
PPM1F	9647	genome.wustl.edu	37	22	22277775	22277775	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:22277775T>C	ENST00000263212.5	-	8	1160	c.1055A>G	c.(1054-1056)gAg>gGg	p.E352G	PPM1F_ENST00000538191.1_Missense_Mutation_p.E248G|PPM1F_ENST00000407142.1_Missense_Mutation_p.E184G	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	352					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CAGGTAGTCCTCGGAGCCCGT	0.642																																						dbGAP											0													48.0	52.0	50.0					22																	22277775		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1055A>G	22.37:g.22277775T>C	ENSP00000263212:p.Glu352Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E352G	ENST00000263212.5	37	c.1055	CCDS13796.1	22	.	.	.	.	.	.	.	.	.	.	T	29.9	5.043008	0.93685	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.18657	2.2;2.2;2.2	5.23	5.23	0.72850	Protein phosphatase 2C-like (5);	0.049186	0.85682	D	0.000000	T	0.38772	0.1053	L	0.42529	1.33	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.969;0.995	T	0.09997	-1.0649	10	0.52906	T	0.07	-9.9916	15.2799	0.73773	0.0:0.0:0.0:1.0	.	248;352	B7Z2C3;P49593	.;PPM1F_HUMAN	G	352;184;184;248	ENSP00000263212:E352G;ENSP00000384930:E184G;ENSP00000439915:E248G	ENSP00000263212:E352G	E	-	2	0	PPM1F	20607775	1.000000	0.71417	0.997000	0.53966	0.738000	0.42128	7.570000	0.82390	2.197000	0.70478	0.533000	0.62120	GAG	PPM1F	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000100034		0.642	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	24	0.00	0	T	NM_014634		22277775	22277775	-1	no_errors	ENST00000263212	ensembl	human	known	69_37n	missense	11	29.41	5	SNP	1.000	C
PPM1G	5496	genome.wustl.edu	37	2	27604481	27604483	+	In_Frame_Del	DEL	CTT	CTT	-	rs142505060|rs144588722	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:27604481_27604483delCTT	ENST00000344034.4	-	10	1888_1890	c.1624_1626delAAG	c.(1624-1626)aagdel	p.K542del	ZNF513_ENST00000323703.6_5'Flank|PPM1G_ENST00000350803.4_In_Frame_Del_p.K542del|ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_5'Flank	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	542	Poly-Lys.				cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.K542delK(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTCGCTTGGCCTTCTTCTTCTTG	0.517																																						dbGAP											1	Deletion - In frame(1)	kidney(1)								4,4262		0,4,2129						5.6	1.0			242	16,8238		1,14,4112	no	coding	PPM1G	NM_177983.1		1,18,6241	A1A1,A1R,RR		0.1938,0.0938,0.1597				20,12500				-	-	-	SO:0001651	inframe_deletion	0			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.1624_1626delAAG	2.37:g.27604490_27604492delCTT	ENSP00000342778:p.Lys542del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.K542in_frame_del	ENST00000344034.4	37	c.1626_1624	CCDS1752.1	2																																																																																			PPM1G	-	NULL	ENSG00000115241		0.517	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1G	HGNC	protein_coding	OTTHUMT00000215032.1	177	0.00	0	CTT	NM_002707		27604481	27604483	-1	no_errors	ENST00000344034	ensembl	human	known	69_37n	in_frame_del	83	35.11	46	DEL	0.998:1.000:1.000	-
PPM1G	5496	genome.wustl.edu	37	2	27607589	27607589	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:27607589T>C	ENST00000344034.4	-	5	1040	c.776A>G	c.(775-777)gAc>gGc	p.D259G	PPM1G_ENST00000350803.4_Missense_Mutation_p.D259G	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	259	Asp/Glu-rich (acidic).				cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCCTCACTGTCCTCAAAGAA	0.552																																						dbGAP											0													127.0	116.0	120.0					2																	27607589		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.776A>G	2.37:g.27607589T>C	ENSP00000342778:p.Asp259Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.D259G	ENST00000344034.4	37	c.776	CCDS1752.1	2	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546485	0.65198	.	.	ENSG00000115241	ENST00000344034;ENST00000350803;ENST00000544412;ENST00000395543	T;T	0.49720	0.77;0.77	5.64	5.64	0.86602	Protein phosphatase 2C-like (3);	5.207300	0.00166	N	0.000000	T	0.50480	0.1618	M	0.64997	1.995	0.80722	D	1	B;P	0.43024	0.409;0.798	B;B	0.36289	0.184;0.221	T	0.48246	-0.9052	10	0.20046	T	0.44	-17.4386	14.6672	0.68918	0.0:0.0:0.0:1.0	.	60;259	Q59GB2;O15355	.;PPM1G_HUMAN	G	259;259;242;60	ENSP00000342778:D259G;ENSP00000264714:D259G	ENSP00000342778:D259G	D	-	2	0	PPM1G	27461093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.534000	0.67167	2.156000	0.67533	0.533000	0.62120	GAC	PPM1G	-	superfamily_PP2C-like,smart_PP2C-like	ENSG00000115241		0.552	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1G	HGNC	protein_coding	OTTHUMT00000215032.1	142	0.00	0	T	NM_002707		27607589	27607589	-1	no_errors	ENST00000344034	ensembl	human	known	69_37n	missense	92	34.75	49	SNP	1.000	C
PDE1B	5153	genome.wustl.edu	37	12	54971231	54971231	+	Intron	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:54971231T>C	ENST00000243052.3	+	15	2064				PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000538346.1_Intron|PPP1R1A_ENST00000547431.1_Missense_Mutation_p.R135G|PDE1B_ENST00000550620.1_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent						activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTCTCTCCCCTTTTGAGCAGT	0.542																																						dbGAP											0													333.0	284.0	299.0					12																	54971231		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1608+102T>C	12.37:g.54971231T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92825|Q96KP3	RNA	SNP	-	NULL	ENST00000243052.3	37	NULL	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	T	5.761	0.324737	0.10900	.	.	ENSG00000135447	ENST00000379690	.	.	.	3.28	0.771	0.18504	.	.	.	.	.	T	0.35998	0.0951	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36504	-0.9745	5	0.87932	D	0	.	3.5362	0.07794	0.0:0.126:0.2301:0.6439	.	.	.	.	G	135	.	ENSP00000369012:R135G	R	-	1	2	PPP1R1A	53257498	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.201000	0.09464	0.146000	0.19002	-0.372000	0.07161	AGG	PPP1R1A	-	-	ENSG00000135447		0.542	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406203.1	466	0.21	1	T			54971231	54971231	-1	no_errors	ENST00000547431	ensembl	human	known	69_37n	rna	322	40.70	221	SNP	0.001	C
PPT1	5538	genome.wustl.edu	37	1	40544322	40544322	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:40544322A>G	ENST00000433473.3	-	7	1100	c.636T>C	c.(634-636)aaT>aaC	p.N212N	PPT1_ENST00000449045.2_Silent_p.N109N|PPT1_ENST00000530076.1_5'UTR|PPT1_ENST00000372775.2_5'UTR	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	212					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTAGGACTCATTGATACCCT	0.473																																						dbGAP											0													109.0	109.0	109.0					1																	40544322		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.636T>C	1.37:g.40544322A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY24|Q6FGQ4	Silent	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.N212	ENST00000433473.3	37	c.636	CCDS447.1	1																																																																																			PPT1	-	pfam_Palm_thioest	ENSG00000131238		0.473	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT1	HGNC	protein_coding	OTTHUMT00000013126.2	135	0.00	0	A	NM_000310		40544322	40544322	-1	no_errors	ENST00000433473	ensembl	human	known	69_37n	silent	81	38.64	51	SNP	0.820	G
PQLC3	130814	genome.wustl.edu	37	2	11304361	11304361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:11304361C>T	ENST00000295083.3	+	4	503	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	PQLC3_ENST00000441908.2_Nonsense_Mutation_p.Q110*|PQLC3_ENST00000476787.1_Intron|PQLC3_ENST00000402361.1_Nonsense_Mutation_p.Q110*	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	110						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		CCTTGCCCTGCAGAAGTGGAT	0.448																																						dbGAP											0													193.0	143.0	160.0					2																	11304361		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.328C>T	2.37:g.11304361C>T	ENSP00000295083:p.Gln110*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8K1|B4DWA4	Nonsense_Mutation	SNP	pirsf_MannP-dilichol_defect-1	p.Q110*	ENST00000295083.3	37	c.328	CCDS1679.1	2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682955	0.88542	.	.	ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361	.	.	.	5.68	5.68	0.88126	.	0.241133	0.43260	D	0.000581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-32.2701	16.697	0.85338	0.0:1.0:0.0:0.0	.	.	.	.	X	133;110;110;110	.	ENSP00000295083:Q110X	Q	+	1	0	PQLC3	11221812	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.026000	0.41069	2.669000	0.90835	0.561000	0.74099	CAG	PQLC3	-	pirsf_MannP-dilichol_defect-1	ENSG00000162976		0.448	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PQLC3	HGNC	protein_coding	OTTHUMT00000239266.4	43	0.00	0	C	NM_152391		11304361	11304361	+1	no_errors	ENST00000295083	ensembl	human	known	69_37n	nonsense	28	36.36	16	SNP	1.000	T
PRAMEF10	343071	genome.wustl.edu	37	1	12952852	12952852	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:12952852T>C	ENST00000235347.4	-	4	1399	c.1320A>G	c.(1318-1320)acA>acG	p.T440T		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	440					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCCTGAGTGTACGCATCA	0.537																																						dbGAP											0													25.0	26.0	26.0					1																	12952852		1299	3097	4396	-	-	-	SO:0001819	synonymous_variant	0			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.1320A>G	1.37:g.12952852T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1V2	Silent	SNP	NULL	p.T440	ENST00000235347.4	37	c.1320	CCDS41255.1	1																																																																																			PRAMEF10	-	NULL	ENSG00000187545		0.537	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	145	0.00	0	T	XM_496342		12952852	12952852	-1	no_errors	ENST00000235347	ensembl	human	known	69_37n	silent	92	47.73	84	SNP	0.000	C
PRDM2	7799	genome.wustl.edu	37	1	14108686	14108686	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:14108686T>C	ENST00000235372.7	+	8	5252	c.4396T>C	c.(4396-4398)Tac>Cac	p.Y1466H	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.Y1265H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.Y1265H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.Y1466H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGAGTTCACTTACATTGGAAG	0.418																																						dbGAP											0													240.0	272.0	261.0					1																	14108686		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4396T>C	1.37:g.14108686T>C	ENSP00000235372:p.Tyr1466His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.Y1466H	ENST00000235372.7	37	c.4396	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436889	0.62955	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02812	4.26;4.15;4.15;4.15	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	M	0.69823	2.125	0.58432	D	0.999998	D;D;D	0.89917	0.99;1.0;1.0	D;D;D	0.91635	0.961;0.999;0.999	T	0.00501	-1.1702	10	0.40728	T	0.16	.	15.4752	0.75471	0.0:0.0:0.0:1.0	.	1324;1466;1466	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	H	1466;1466;1466;1265;1265	ENSP00000235372:Y1466H;ENSP00000312352:Y1466H;ENSP00000411103:Y1265H;ENSP00000341621:Y1265H	ENSP00000235372:Y1466H	Y	+	1	0	PRDM2	13981273	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	8.040000	0.89188	2.333000	0.79357	0.482000	0.46254	TAC	PRDM2	-	smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2	ENSG00000116731		0.418	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	494	0.00	0	T	NM_012231		14108686	14108686	+1	no_errors	ENST00000235372	ensembl	human	known	69_37n	missense	328	42.25	240	SNP	1.000	C
PREX1	57580	genome.wustl.edu	37	20	47269206	47269206	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:47269206G>A	ENST00000371941.3	-	21	2407	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A	PREX1_ENST00000396220.1_Silent_p.A795A	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	795					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GTGCTTCCTGGGCATCCTCAT	0.632																																						dbGAP											0													76.0	63.0	67.0					20																	47269206		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2385C>T	20.37:g.47269206G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	superfamily_PDZ	p.P117L	ENST00000371941.3	37	c.350	CCDS13410.1	20																																																																																			PREX1	-	NULL	ENSG00000124126		0.632	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	87	0.00	0	G	NM_020820		47269206	47269206	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000482556	ensembl	human	known	69_37n	missense	65	30.11	28	SNP	0.967	A
PRIM1	5557	genome.wustl.edu	37	12	57140790	57140790	+	Silent	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:57140790C>A	ENST00000338193.6	-	3	324	c.288G>T	c.(286-288)ctG>ctT	p.L96L	PRIM1_ENST00000552408.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	96					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						GGAAAGCTCCCAGCTTCACTG	0.408																																						dbGAP											0													159.0	140.0	146.0					12																	57140790		1980	4158	6138	-	-	-	SO:0001819	synonymous_variant	0			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.288G>T	12.37:g.57140790C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	p.L96	ENST00000338193.6	37	c.288	CCDS44926.1	12																																																																																			PRIM1	-	tigrfam_DNA_primase_ssu_euk/arc	ENSG00000198056		0.408	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIM1	HGNC	protein_coding	OTTHUMT00000406956.1	32	0.00	0	C	NM_000946		57140790	57140790	-1	no_errors	ENST00000338193	ensembl	human	known	69_37n	silent	31	13.51	5	SNP	0.999	A
PRKCE	5581	genome.wustl.edu	37	2	45879258	45879260	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:45879258_45879260delCTT	ENST00000306156.3	+	1	346_348	c.19_21delCTT	c.(19-21)cttdel	p.L8del		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	8	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.L7H(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GTTCAATGGCCTTCTTAAGATCA	0.65																																						dbGAP											1	Substitution - Missense(1)	kidney(1)																																								-	-	-	SO:0001651	inframe_deletion	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.19_21delCTT	2.37:g.45879261_45879263delCTT	ENSP00000306124:p.Leu8del	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	In_Frame_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.L8in_frame_del	ENST00000306156.3	37	c.19_21	CCDS1824.1	2																																																																																			PRKCE	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting	ENSG00000171132		0.650	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	26	0.00	0	CTT			45879258	45879260	+1	no_errors	ENST00000306156	ensembl	human	known	69_37n	in_frame_del	8	42.86	6	DEL	1.000:1.000:1.000	-
PRKCE	5581	genome.wustl.edu	37	2	46234614	46234614	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:46234614T>C	ENST00000306156.3	+	9	1404	c.1077T>C	c.(1075-1077)ctT>ctC	p.L359L	PRKCE_ENST00000394874.1_Silent_p.L82L	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	359					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TAAAAGAACTTGAGAACAACA	0.483																																						dbGAP											0													47.0	49.0	48.0					2																	46234614		1789	3774	5563	-	-	-	SO:0001819	synonymous_variant	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1077T>C	2.37:g.46234614T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.L359	ENST00000306156.3	37	c.1077	CCDS1824.1	2																																																																																			PRKCE	-	pirsf_Prot_kin_PKC_delta	ENSG00000171132		0.483	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	82	0.00	0	T			46234614	46234614	+1	no_errors	ENST00000306156	ensembl	human	known	69_37n	silent	40	47.44	37	SNP	1.000	C
PRMT8	56341	genome.wustl.edu	37	12	3647746	3647746	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:3647746G>A	ENST00000382622.3	+	2	465				PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Intron	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8						histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AAGGGGTGCTGGAGGCCCCTG	0.547																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.76-2026G>A	12.37:g.3647746G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDP0|Q8TBJ8	RNA	SNP	-	NULL	ENST00000382622.3	37	NULL	CCDS8521.2	12																																																																																			PRMT8	-	-	ENSG00000111218		0.547	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	48	0.00	0	G	NM_019854		3647746	3647746	+1	no_errors	ENST00000261252	ensembl	human	known	69_37n	rna	22	40.54	15	SNP	0.101	A
PROX1	5629	genome.wustl.edu	37	1	214171142	214171142	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:214171142G>A	ENST00000366958.4	+	2	1872	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	PROX1_ENST00000261454.4_Missense_Mutation_p.D422N|PROX1_ENST00000435016.1_Missense_Mutation_p.D422N|PROX1_ENST00000498508.2_Missense_Mutation_p.D422N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	422					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAACCCCCTGGACACCTTTGG	0.582																																						dbGAP											0													99.0	100.0	100.0					1																	214171142		2203	4300	6503	-	-	-	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1264G>A	1.37:g.214171142G>A	ENSP00000355925:p.Asp422Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.D422N	ENST00000366958.4	37	c.1264	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.406213	0.42715	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48522	0.82;0.81;0.82;0.82	5.43	5.43	0.79202	.	0.095221	0.64402	D	0.000001	T	0.37265	0.0997	N	0.25144	0.715	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.12889	-1.0530	10	0.19147	T	0.46	-6.7837	19.2456	0.93901	0.0:0.0:1.0:0.0	.	422	Q92786	PROX1_HUMAN	N	422	ENSP00000420283:D422N;ENSP00000355925:D422N;ENSP00000400694:D422N;ENSP00000261454:D422N	ENSP00000261454:D422N	D	+	1	0	PROX1	212237765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.548000	0.85928	0.591000	0.81541	GAC	PROX1	-	pfam_Prox1	ENSG00000117707		0.582	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	317	0.00	0	G	NM_002763		214171142	214171142	+1	no_errors	ENST00000261454	ensembl	human	known	69_37n	missense	338	29.31	141	SNP	1.000	A
PRPF18	8559	genome.wustl.edu	37	10	13639528	13639528	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:13639528G>A	ENST00000378572.3	+	2	297	c.137G>A	c.(136-138)gGc>gAc	p.G46D		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	46					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GAAAGATGTGGCTACAAGGTA	0.279																																						dbGAP											0													87.0	90.0	89.0					10																	13639528		2203	4300	6503	-	-	-	SO:0001583	missense	0			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.137G>A	10.37:g.13639528G>A	ENSP00000367835:p.Gly46Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9P9|Q9BUI9	Missense_Mutation	SNP	pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM	p.G46D	ENST00000378572.3	37	c.137	CCDS7100.1	10	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129535	0.77549	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000320054;ENST00000378544	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	M	0.77103	2.36	0.80722	D	1	P	0.37423	0.594	B	0.35971	0.215	T	0.71144	-0.4678	9	0.62326	D	0.03	-11.0832	20.1338	0.98010	0.0:0.0:1.0:0.0	.	46	Q99633	PRP18_HUMAN	D	46;31;31;31	.	ENSP00000367824:G31D	G	+	2	0	PRPF18	13679534	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.589000	0.98235	2.770000	0.95276	0.655000	0.94253	GGC	PRPF18	-	NULL	ENSG00000165630		0.279	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	HGNC	protein_coding	OTTHUMT00000046879.1	94	0.00	0	G			13639528	13639528	+1	no_errors	ENST00000378572	ensembl	human	known	69_37n	missense	59	41.58	42	SNP	1.000	A
PRPF4B	8899	genome.wustl.edu	37	6	4032153	4032153	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:4032153G>A	ENST00000337659.6	+	2	502	c.402G>A	c.(400-402)ggG>ggA	p.G134G	PRPF4B_ENST00000538861.1_Silent_p.G120G	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	134	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CTGGTATGGGGCTCATTTTGC	0.403																																						dbGAP											0													82.0	89.0	87.0					6																	4032153		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.402G>A	6.37:g.4032153G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	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	p.G134	ENST00000337659.6	37	c.402	CCDS4488.1	6																																																																																			PRPF4B	-	NULL	ENSG00000112739		0.403	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	220	0.00	0	G			4032153	4032153	+1	no_errors	ENST00000337659	ensembl	human	known	69_37n	silent	110	45.54	92	SNP	0.998	A
PRR23B	389151	genome.wustl.edu	37	3	138739117	138739117	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:138739117G>A	ENST00000329447.5	-	1	651	c.387C>T	c.(385-387)ggC>ggT	p.G129G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	129										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCTGACAGCGCCCAGGAAAA	0.647																																						dbGAP											0													51.0	54.0	53.0					3																	138739117		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.387C>T	3.37:g.138739117G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV9	Silent	SNP	pfam_UPF0572	p.G129	ENST00000329447.5	37	c.387	CCDS33868.1	3																																																																																			PRR23B	-	pfam_UPF0572	ENSG00000184814		0.647	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23B	HGNC	protein_coding	OTTHUMT00000361501.1	82	0.00	0	G	NM_001013650		138739117	138739117	-1	no_errors	ENST00000329447	ensembl	human	known	69_37n	silent	54	42.86	42	SNP	0.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79270372	79270372	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:79270372C>T	ENST00000376718.3	-	10	8446	c.8323G>A	c.(8323-8325)Gtg>Atg	p.V2775M	PRUNE2_ENST00000428286.1_Missense_Mutation_p.V2416M|PRUNE2_ENST00000223609.6_Missense_Mutation_p.V39M|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.V24M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2775					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGACTCAGCACGCCCTCTTCA	0.453																																						dbGAP											0													75.0	67.0	70.0					9																	79270372		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8323G>A	9.37:g.79270372C>T	ENSP00000365908:p.Val2775Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.V2416M	ENST00000376718.3	37	c.7246	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.84|11.84	1.759802|1.759802	0.31137|0.31137	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376717;ENST00000376718;ENST00000428286;ENST00000443509;ENST00000223609;ENST00000422033	.|T;T;T;T;T	.|0.47177	.|0.92;0.85;0.86;0.92;0.92	5.74|5.74	-0.198|-0.198	0.13224|0.13224	.|.	.|0.608335	.|0.16754	.|N	.|0.200923	T|T	0.21550|0.21550	0.0519|0.0519	N|N	0.04203|0.04203	-0.255|-0.255	0.22684|0.22684	N|N	0.998854|0.998854	.|B;B;B;B;B	.|0.24721	.|0.003;0.002;0.003;0.11;0.089	.|B;B;B;B;B	.|0.19148	.|0.002;0.01;0.002;0.024;0.008	T|T	0.16928|0.16928	-1.0386|-1.0386	5|10	.|0.31617	.|T	.|0.26	-0.8257|-0.8257	9.7438|9.7438	0.40435|0.40435	0.0:0.6826:0.0:0.3174|0.0:0.6826:0.0:0.3174	.|.	.|39;39;24;2775;2775	.|B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3	.|.;.;.;.;PRUN2_HUMAN	H|M	2096|39;2775;2416;24;39;2774	.|ENSP00000365907:V39M;ENSP00000365908:V2775M;ENSP00000397425:V2416M;ENSP00000393843:V24M;ENSP00000223609:V39M	.|ENSP00000223609:V39M	R|V	-|-	2|1	0|0	PRUNE2|PRUNE2	78460192|78460192	0.011000|0.011000	0.17503|0.17503	0.839000|0.839000	0.33178|0.33178	0.791000|0.791000	0.44710|0.44710	-0.007000|-0.007000	0.12810|0.12810	0.086000|0.086000	0.17137|0.17137	-0.367000|-0.367000	0.07326|0.07326	CGT|GTG	PRUNE2	-	NULL	ENSG00000106772		0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	49	0.00	0	C	NM_138818		79270372	79270372	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.779	T
PSEN1	5663	genome.wustl.edu	37	14	73614682	73614682	+	5'UTR	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:73614682A>G	ENST00000324501.5	+	0	227				PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000261970.3_5'UTR|PSEN1_ENST00000357710.4_5'UTR|PSEN1_ENST00000394164.1_5'UTR|PSEN1_ENST00000557511.1_5'Flank|PSEN1_ENST00000394157.3_5'UTR|PSEN1_ENST00000344094.3_5'UTR	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1						activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CAGAACCTCAAGAGGCTTTGT	0.368																																						dbGAP											0													55.0	51.0	52.0					14																	73614682		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.-46A>G	14.37:g.73614682A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	RNA	SNP	-	NULL	ENST00000324501.5	37	NULL	CCDS9812.1	14																																																																																			PSEN1	-	-	ENSG00000080815		0.368	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	63	0.00	0	A			73614682	73614682	+1	no_errors	ENST00000553447	ensembl	human	known	69_37n	rna	37	35.09	20	SNP	0.194	G
PSENEN	55851	genome.wustl.edu	37	19	36237746	36237746	+	Nonstop_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:36237746T>C	ENST00000587708.2	+	4	987	c.304T>C	c.(304-306)Tga>Cga	p.*102R	LIN37_ENST00000301159.9_5'Flank|AD000671.6_ENST00000589807.1_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|U2AF1L4_ENST00000412391.2_5'Flank|PSENEN_ENST00000591949.1_3'UTR|U2AF1L4_ENST00000292879.5_5'Flank|AC002398.9_ENST00000591613.2_Intron|PSENEN_ENST00000222266.2_Nonstop_Mutation_p.*102R|AC002398.11_ENST00000585365.1_RNA|U2AF1L4_ENST00000378975.3_5'Flank|AC002398.11_ENST00000591091.1_RNA			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit	0					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCACCCCCTGACAACTTCT	0.587																																						dbGAP											0													31.0	33.0	32.0					19																	36237746		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"""presenilin enhancer 2 homolog (C. elegans)"""			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.304T>C	19.37:g.36237746T>C	ENSP00000468411:p.*102Argext*50	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5L9	Nonstop_Mutation	SNP	pfam_Gamma_Secretase_Asp_P_PEN2	p.*102R	ENST00000587708.2	37	c.304	CCDS12474.1	19	.	.	.	.	.	.	.	.	.	.	T	14.23	2.474174	0.43942	.	.	ENSG00000205155	ENST00000222266	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2215	0.73313	0.0:0.0:0.0:1.0	.	.	.	.	R	102	.	.	X	+	1	0	PSENEN	40929586	1.000000	0.71417	0.991000	0.47740	0.312000	0.27988	7.163000	0.77524	2.236000	0.73375	0.529000	0.55759	TGA	PSENEN	-	NULL	ENSG00000205155		0.587	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSENEN	HGNC	protein_coding	OTTHUMT00000459101.2	48	0.00	0	T	NM_172341		36237746	36237746	+1	no_errors	ENST00000222266	ensembl	human	known	69_37n	nonstop	22	43.59	17	SNP	1.000	C
PSMB7	5695	genome.wustl.edu	37	9	127177457	127177457	+	Intron	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:127177457A>T	ENST00000259457.3	-	1	76				PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_Intron	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						GGAAGGTGGGAGAGCAGACCC	0.602																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"""Proteasome (prosome, macropain) subunits"""	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.62+185T>A	9.37:g.127177457A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	RNA	SNP	-	NULL	ENST00000259457.3	37	NULL	CCDS6855.1	9																																																																																			PSMB7	-	-	ENSG00000136930		0.602	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB7	HGNC	protein_coding	OTTHUMT00000055525.1	9	0.00	0	A	NM_002799		127177457	127177457	-1	no_errors	ENST00000466951	ensembl	human	known	69_37n	rna	9	52.63	10	SNP	0.000	T
PSMD1	5707	genome.wustl.edu	37	2	232029932	232029932	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:232029932T>C	ENST00000308696.6	+	22	2662	c.2500T>C	c.(2500-2502)Tct>Cct	p.S834P	PSMD1_ENST00000373635.4_Missense_Mutation_p.S803P|PSMD1_ENST00000409643.1_Missense_Mutation_p.S803P	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	834					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGCTGTATTATCTATAACTGC	0.393																																						dbGAP											0													98.0	96.0	97.0					2																	232029932		2203	4299	6502	-	-	-	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2500T>C	2.37:g.232029932T>C	ENSP00000309474:p.Ser834Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.S834P	ENST00000308696.6	37	c.2500	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409394	0.83340	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.86	5.86	0.93980	.	0.060326	0.64402	D	0.000001	D	0.84786	0.5549	M	0.88906	2.99	0.80722	D	1	D;P	0.89917	1.0;0.782	D;P	0.91635	0.999;0.838	D	0.87723	0.2574	9	0.87932	D	0	-14.7078	16.2652	0.82574	0.0:0.0:0.0:1.0	.	834;803	Q99460;Q99460-2	PSMD1_HUMAN;.	P	834;803;803	.	ENSP00000309474:S834P	S	+	1	0	PSMD1	231738176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.605000	0.67634	2.241000	0.73720	0.528000	0.53228	TCT	PSMD1	-	pirsf_26S_Psome_Rpn2	ENSG00000173692		0.393	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	102	0.00	0	T			232029932	232029932	+1	no_errors	ENST00000308696	ensembl	human	known	69_37n	missense	62	34.04	32	SNP	1.000	C
PTAR1	375743	genome.wustl.edu	37	9	72333512	72333513	+	Intron	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:72333512_72333513insC	ENST00000340434.4	-	8	986				PTAR1_ENST00000377200.5_Frame_Shift_Ins_p.T267fs	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1						protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						TCACTCAAAGTCCCCCCAGGGC	0.51																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"""Prenyltransferase alpha subunit repeat containing"""	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.983-28->G	9.37:g.72333518_72333518dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7V5|Q5T7V6	Frame_Shift_Ins	INS	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.T266fs	ENST00000340434.4	37	c.799_798	CCDS47978.1	9																																																																																			PTAR1	-	NULL	ENSG00000188647		0.510	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	HGNC	protein_coding	OTTHUMT00000052582.4	85	0.00	0	-	NM_001099666		72333512	72333513	-1	no_errors	ENST00000377200	ensembl	human	novel	69_37n	frame_shift_ins	63	25.00	21	INS	0.056:0.000	C
PTCHD4	442213	genome.wustl.edu	37	6	48036112	48036112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:48036112delG	ENST00000339488.4	-	1	313	c.280delC	c.(280-282)ctgfs	p.L94fs	PTCHD4_ENST00000543600.1_Frame_Shift_Del_p.L77fs	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	94						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GACTGGTCCAGGGGGAAAAGG	0.627																																						dbGAP											0													70.0	77.0	74.0					6																	48036112		1948	4136	6084	-	-	-	SO:0001589	frameshift_variant	0				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.280delC	6.37:g.48036112delG	ENSP00000341914:p.Leu94fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ29|B4DRK3|Q5T884	Frame_Shift_Del	DEL	pfam_Patched,pfscan_SSD	p.L94fs	ENST00000339488.4	37	c.280	CCDS34473.2	6																																																																																			PTCHD4	-	NULL	ENSG00000244694		0.627	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	71	0.00	0	G	NM_001013732		48036112	48036112	-1	no_errors	ENST00000339488	ensembl	human	known	69_37n	frame_shift_del	45	29.69	19	DEL	1.000	-
PTGR1	22949	genome.wustl.edu	37	9	114332483	114332483	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:114332483G>A	ENST00000407693.2	-	9	1029	c.767C>T	c.(766-768)cCc>cTc	p.P256L	ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000538962.1_Missense_Mutation_p.P256L|PTGR1_ENST00000309195.5_Missense_Mutation_p.P256L|PTGR1_ENST00000238248.3_Missense_Mutation_p.P133L	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	256	Pro-rich.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						AATCTCTGGGGGTGGGCCTGT	0.537																																					Ovarian(200;132 2151 7551 19220 46064)	dbGAP											0													35.0	36.0	36.0					9																	114332483		2203	4300	6503	-	-	-	SO:0001583	missense	0			D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.767C>T	9.37:g.114332483G>A	ENSP00000385763:p.Pro256Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH	p.P256L	ENST00000407693.2	37	c.767	CCDS6779.1	9	.	.	.	.	.	.	.	.	.	.	G	4.353	0.064899	0.08388	.	.	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	3.9	2.98	0.34508	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	1.021330	0.07736	N	0.946003	T	0.03739	0.0106	N	0.26092	0.79	0.09310	N	0.999999	B;B;B;B	0.15719	0.011;0.014;0.001;0.001	B;B;B;B	0.13407	0.004;0.009;0.006;0.003	T	0.45527	-0.9255	10	0.26408	T	0.33	-1.0198	2.7308	0.05226	0.1016:0.1865:0.519:0.1928	.	256;256;133;256	F5GY50;B4DPK3;Q5JVP3;Q14914	.;.;.;PTGR1_HUMAN	L	256;256;256;133;133	ENSP00000440281:P256L;ENSP00000311572:P256L;ENSP00000385763:P256L;ENSP00000238248:P133L	ENSP00000238248:P133L	P	-	2	0	PTGR1	113372304	0.210000	0.23517	0.097000	0.21041	0.324000	0.28378	0.339000	0.19875	1.208000	0.43306	0.460000	0.39030	CCC	PTGR1	-	pfam_ADH_C,smart_PKS_ER,tigrfam_B4_12hDH	ENSG00000106853		0.537	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGR1	HGNC	protein_coding	OTTHUMT00000053647.2	43	0.00	0	G			114332483	114332483	-1	no_errors	ENST00000309195	ensembl	human	known	69_37n	missense	27	50.91	28	SNP	0.140	A
PTGR2	145482	genome.wustl.edu	37	14	74346782	74346782	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:74346782C>A	ENST00000555661.1	+	7	899	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.L182M|PTGR2_ENST00000553813.1_Missense_Mutation_p.L118M|PTGR2_ENST00000555228.1_Missense_Mutation_p.L252M|PTGR2_ENST00000267568.4_Missense_Mutation_p.L252M			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	252					prostaglandin metabolic process (GO:0006693)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)	p.L252M(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9					Indomethacin(DB00328)	CCACATCATCCTGTGTGGTCA	0.413																																					Esophageal Squamous(98;1155 1417 16452 47043 47872)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											123.0	113.0	116.0					14																	74346782		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096410	CCDS9820.1	14q24.1-q24.2	2008-06-04	2008-06-02	2008-06-03		ENSG00000140043			20149	protein-coding gene	gene with protein product		608642	"""zinc binding alcohol dehydrogenase domain containing 1"""	ZADH1		17449869	Standard	NM_152444		Approved	FLJ39091	uc001xow.3	Q8N8N7		ENST00000555661.1:c.754C>A	14.37:g.74346782C>A	ENSP00000452280:p.Leu252Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3L8A4|Q6MZH8	Missense_Mutation	SNP	pfam_ADH_C,superfamily_GroES-like	p.L252M	ENST00000555661.1	37	c.754	CCDS9820.1	14	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201970	0.58234	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;3.52	5.63	4.74	0.60224	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00507	-1.1699	10	0.52906	T	0.07	-8.2874	8.8846	0.35396	0.0:0.7255:0.0:0.2745	.	252	Q8N8N7	PTGR2_HUMAN	M	252;252;252;203;118	ENSP00000450975:L252M;ENSP00000452280:L252M;ENSP00000267568:L252M;ENSP00000451158:L203M;ENSP00000450824:L118M	ENSP00000267568:L252M	L	+	1	2	RP5-1021I20.4;PTGR2	73416535	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.711000	0.47177	1.364000	0.46038	0.591000	0.81541	CTG	PTGR2	-	pfam_ADH_C	ENSG00000140043		0.413	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGR2	HGNC	protein_coding	OTTHUMT00000412575.1	220	0.00	0	C			74346782	74346782	+1	no_errors	ENST00000267568	ensembl	human	known	69_37n	missense	157	40.53	107	SNP	1.000	A
PTPN13	5783	genome.wustl.edu	37	4	87607921	87607921	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:87607921A>G	ENST00000411767.2	+	4	416	c.353A>G	c.(352-354)cAg>cGg	p.Q118R	PTPN13_ENST00000502971.1_Missense_Mutation_p.Q118R|PTPN13_ENST00000427191.2_Missense_Mutation_p.Q118R|PTPN13_ENST00000316707.6_Missense_Mutation_p.Q118R|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q118R|PTPN13_ENST00000436978.1_Missense_Mutation_p.Q118R			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	118	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAAGTGCCTCAGAGCCAAGTA	0.313																																						dbGAP											0													89.0	93.0	92.0					4																	87607921		1828	4082	5910	-	-	-	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.353A>G	4.37:g.87607921A>G	ENSP00000407249:p.Gln118Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.Q118R	ENST00000411767.2	37	c.353	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159109	0.78226	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000502971;ENST00000316707;ENST00000411767;ENST00000507902;ENST00000511467;ENST00000357349	T;T;T;T;T;T;T	0.34072	1.38;1.38;3.02;1.38;1.38;1.38;1.38	5.83	4.64	0.57946	Argonaute/Dicer protein, PAZ (1);KIND (2);	0.000000	0.46442	D	0.000295	T	0.50837	0.1639	L	0.54323	1.7	0.46203	D	0.998923	D;D;D;D	0.60575	0.988;0.982;0.969;0.968	P;P;P;P	0.61800	0.883;0.894;0.787;0.849	T	0.48906	-0.8993	10	0.49607	T	0.09	.	13.2874	0.60251	0.8677:0.1323:0.0:0.0	.	118;118;118;118	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	R	118;118;118;118;118;118;118;86	ENSP00000408368:Q118R;ENSP00000394794:Q118R;ENSP00000423531:Q118R;ENSP00000322675:Q118R;ENSP00000407249:Q118R;ENSP00000422835:Q118R;ENSP00000426626:Q118R	ENSP00000322675:Q118R	Q	+	2	0	PTPN13	87826945	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.929000	0.63455	1.013000	0.39391	-0.418000	0.06021	CAG	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PAZ,smart_KIND	ENSG00000163629		0.313	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	34	0.00	0	A			87607921	87607921	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	missense	15	44.44	12	SNP	1.000	G
PTPN22	26191	genome.wustl.edu	37	1	114399050	114399051	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:114399050_114399051insT	ENST00000359785.5	-	7	628_629	c.493_494insA	c.(493-495)aggfs	p.R165fs	PTPN22_ENST00000420377.2_Frame_Shift_Ins_p.R165fs|PTPN22_ENST00000534519.1_5'Flank|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000528414.1_Frame_Shift_Ins_p.R165fs|PTPN22_ENST00000460620.1_Frame_Shift_Ins_p.R141fs|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000525799.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	165	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAGATTTCCTTTTTTCAGCT	0.332																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.494dupA	1.37:g.114399056_114399056dupT	ENSP00000352833:p.Arg165fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Frame_Shift_Ins	INS	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R165fs	ENST00000359785.5	37	c.494_493	CCDS863.1	1																																																																																			PTPN22	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000134242		0.332	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	76	0.00	0	-	NM_015967		114399050	114399051	-1	no_errors	ENST00000359785	ensembl	human	known	69_37n	frame_shift_ins	55	32.10	26	INS	0.814:0.894	T
PTPN9	5780	genome.wustl.edu	37	15	75816619	75816619	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:75816619G>A	ENST00000306726.2	-	3	740	c.228C>T	c.(226-228)ggC>ggT	p.G76G	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	76					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTTTACAATGCCTTCCTTCC	0.413																																						dbGAP											0													121.0	108.0	113.0					15																	75816619		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.228C>T	15.37:g.75816619G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.G76	ENST00000306726.2	37	c.228	CCDS10280.1	15																																																																																			PTPN9	-	superfamily_CRAL/TRIO_N_dom	ENSG00000169410		0.413	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1	120	0.00	0	G			75816619	75816619	-1	no_errors	ENST00000306726	ensembl	human	known	69_37n	silent	70	47.76	64	SNP	0.999	A
PTPRC	5788	genome.wustl.edu	37	1	198675971	198675971	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:198675971G>A	ENST00000367376.2	+	9	959	c.788G>A	c.(787-789)tGc>tAc	p.C263Y	PTPRC_ENST00000352140.3_Missense_Mutation_p.C215Y|PTPRC_ENST00000348564.6_Missense_Mutation_p.C104Y|PTPRC_ENST00000442510.2_Missense_Mutation_p.C265Y|PTPRC_ENST00000594404.1_Missense_Mutation_p.C102Y	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	263					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACAATACTTGCACAAACAAT	0.313																																						dbGAP											0													153.0	157.0	156.0					1																	198675971		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.788G>A	1.37:g.198675971G>A	ENSP00000356346:p.Cys263Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.C265Y	ENST00000367376.2	37	c.794		1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499914	0.44455	.	.	ENSG00000081237	ENST00000367379;ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.03441	3.93	4.87	3.88	0.44766	.	0.567146	0.16161	N	0.226727	T	0.16214	0.0390	M	0.78637	2.42	0.09310	N	0.999999	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;0.976	D;D;D;P;P	0.79108	0.981;0.992;0.979;0.883;0.868	T	0.01065	-1.1463	10	0.87932	D	0	.	10.5854	0.45280	0.0:0.195:0.805:0.0	.	199;199;104;215;263	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	Y	102;265;199;215;215;149;263;197;102	ENSP00000193532:C215Y	ENSP00000306782:C102Y	C	+	2	0	PTPRC	196942594	0.719000	0.27986	0.076000	0.20297	0.007000	0.05969	2.275000	0.43399	2.678000	0.91216	0.655000	0.94253	TGC	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Leukocyte_common_ag	ENSG00000081237		0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		340	0.00	0	G			198675971	198675971	+1	no_errors	ENST00000367376	ensembl	human	known	69_37n	missense	243	27.38	92	SNP	0.044	A
PTPRC	5788	genome.wustl.edu	37	1	198704277	198704277	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:198704277C>T	ENST00000367376.2	+	23	2464	c.2293C>T	c.(2293-2295)Ccg>Tcg	p.P765S	PTPRC_ENST00000352140.3_Missense_Mutation_p.P717S|PTPRC_ENST00000348564.6_Missense_Mutation_p.P606S|PTPRC_ENST00000442510.2_Missense_Mutation_p.P767S|PTPRC_ENST00000594404.1_Missense_Mutation_p.P604S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	765	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGAATACTGGCCGTCAATGGA	0.313																																						dbGAP											0													76.0	73.0	74.0					1																	198704277		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2293C>T	1.37:g.198704277C>T	ENSP00000356346:p.Pro765Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P767S	ENST00000367376.2	37	c.2299		1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848675	0.71603	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000442510;ENST00000367367;ENST00000348564	T	0.19105	2.17	5.1	5.1	0.69264	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.47455	D	0.000239	T	0.53433	0.1796	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.61222	-0.7106	10	0.87932	D	0	.	18.8748	0.92331	0.0:1.0:0.0:0.0	.	701;606;717;765	F5GXZ3;B1ALS3;E9PC28;P08575	.;.;.;PTPRC_HUMAN	S	767;701;717;717;765;699;604	ENSP00000193532:P717S	ENSP00000306782:P604S	P	+	1	0	PTPRC	196970900	1.000000	0.71417	0.998000	0.56505	0.300000	0.27592	7.404000	0.79996	2.523000	0.85059	0.655000	0.94253	CCG	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000081237		0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		64	0.00	0	C			198704277	198704277	+1	no_errors	ENST00000367376	ensembl	human	known	69_37n	missense	75	21.88	21	SNP	1.000	T
PTPRJ	5795	genome.wustl.edu	37	11	48164577	48164577	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:48164577T>C	ENST00000418331.2	+	12	2902	c.2550T>C	c.(2548-2550)taT>taC	p.Y850Y		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	850	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAAAGCCTATGCTGTCATTC	0.512																																						dbGAP											0													122.0	109.0	113.0					11																	48164577		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2550T>C	11.37:g.48164577T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Y850	ENST00000418331.2	37	c.2550	CCDS7945.1	11																																																																																			PTPRJ	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000149177		0.512	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	187	0.00	0	T			48164577	48164577	+1	no_errors	ENST00000418331	ensembl	human	known	69_37n	silent	144	35.14	78	SNP	0.315	C
PTPRM	5797	genome.wustl.edu	37	18	8069972	8069972	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:8069972T>C	ENST00000332175.8	+	8	2458	c.1421T>C	c.(1420-1422)aTa>aCa	p.I474T	PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.I474T|PTPRM_ENST00000400060.4_Missense_Mutation_p.I474T|PTPRM_ENST00000444013.1_Missense_Mutation_p.I261T|PTPRM_ENST00000400053.4_Missense_Mutation_p.I412T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	474	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAAGAACTCATAGTGCAGACA	0.428																																						dbGAP											0													89.0	71.0	77.0					18																	8069972		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1421T>C	18.37:g.8069972T>C	ENSP00000331418:p.Ile474Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.I474T	ENST00000332175.8	37	c.1421	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	T	5.127	0.209018	0.09757	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.52	4.38	0.52667	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.746017	0.13486	N	0.384303	T	0.31199	0.0789	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.11329	0.004;0.006;0.006	T	0.21280	-1.0250	10	0.09590	T	0.72	.	10.5401	0.45029	0.0:0.0764:0.0:0.9236	.	261;474;474	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	474;474;412;261	ENSP00000331418:I474T;ENSP00000382933:I474T;ENSP00000382927:I412T;ENSP00000387608:I261T	ENSP00000331418:I474T	I	+	2	0	PTPRM	8059972	0.988000	0.35896	0.479000	0.27329	0.992000	0.81027	3.045000	0.49838	0.960000	0.38005	0.533000	0.62120	ATA	PTPRM	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000173482		0.428	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	175	0.00	0	T			8069972	8069972	+1	no_errors	ENST00000400060	ensembl	human	known	69_37n	missense	23	65.15	43	SNP	0.101	C
PTPRT	11122	genome.wustl.edu	37	20	40944439	40944439	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:40944439T>C	ENST00000373187.1	-	12	2062	c.2063A>G	c.(2062-2064)aAt>aGt	p.N688S	PTPRT_ENST00000373193.3_Missense_Mutation_p.N688S|PTPRT_ENST00000373190.1_Missense_Mutation_p.N688S|PTPRT_ENST00000373184.1_Missense_Mutation_p.N688S|PTPRT_ENST00000373198.4_Missense_Mutation_p.N688S|PTPRT_ENST00000373201.1_Missense_Mutation_p.N688S|PTPRT_ENST00000356100.2_Missense_Mutation_p.N688S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	688	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAGTAGCCATTGTATGTCTT	0.517																																						dbGAP											0													114.0	112.0	113.0					20																	40944439		1962	4142	6104	-	-	-	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2063A>G	20.37:g.40944439T>C	ENSP00000362283:p.Asn688Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.N688S	ENST00000373187.1	37	c.2063	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	T	13.90	2.375879	0.42105	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35605	1.36;1.36;1.36;1.34;1.3;1.37;1.36	5.69	5.69	0.88448	.	0.096269	0.64402	D	0.000001	T	0.29491	0.0735	L	0.27053	0.805	0.49582	D	0.999803	B;B	0.19445	0.036;0.009	B;B	0.21917	0.037;0.016	T	0.04203	-1.0969	10	0.36615	T	0.2	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	688;688	O14522-1;O14522	.;PTPRT_HUMAN	S	688	ENSP00000362286:N688S;ENSP00000362283:N688S;ENSP00000362289:N688S;ENSP00000348408:N688S;ENSP00000362294:N688S;ENSP00000362280:N688S;ENSP00000362297:N688S	ENSP00000348408:N688S	N	-	2	0	PTPRT	40377853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.176000	0.58269	2.167000	0.68274	0.460000	0.39030	AAT	PTPRT	-	NULL	ENSG00000196090		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	233	0.43	1	T			40944439	40944439	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	missense	163	38.02	100	SNP	1.000	C
PVRL1	5818	genome.wustl.edu	37	11	119535688	119535688	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:119535688C>A	ENST00000264025.3	-	6	1853	c.1323G>T	c.(1321-1323)gaG>gaT	p.E441D	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	441	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		cctcctcctcctcctcctcct	0.657																																						dbGAP											0													35.0	30.0	32.0					11																	119535688		2197	4293	6490	-	-	-	SO:0001583	missense	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1323G>T	11.37:g.119535688C>A	ENSP00000264025:p.Glu441Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E441D	ENST00000264025.3	37	c.1323	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	-	10.39	1.335838	0.24253	.	.	ENSG00000110400	ENST00000264025	T	0.15718	2.4	3.9	0.667	0.17907	.	0.000000	0.38381	N	0.001718	T	0.07098	0.0180	N	0.11201	0.11	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.25047	-1.0143	10	0.45353	T	0.12	.	3.9074	0.09188	0.1543:0.4566:0.3007:0.0884	.	441	Q15223	PVRL1_HUMAN	D	441	ENSP00000264025:E441D	ENSP00000264025:E441D	E	-	3	2	PVRL1	119040898	.	.	0.997000	0.53966	0.572000	0.35998	.	.	0.019000	0.15079	0.479000	0.44913	GAG	PVRL1	-	NULL	ENSG00000110400		0.657	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	36	0.00	0	C			119535688	119535688	-1	no_errors	ENST00000264025	ensembl	human	known	69_37n	missense	48	30.43	21	SNP	1.000	A
PXDN	7837	genome.wustl.edu	37	2	1657460	1657460	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:1657460T>A	ENST00000252804.4	-	16	2094	c.2044A>T	c.(2044-2046)Aca>Tca	p.T682S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	682					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCTGCAATGTCCGTTCAAAG	0.522																																						dbGAP											0													75.0	78.0	77.0					2																	1657460		2051	4189	6240	-	-	-	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2044A>T	2.37:g.1657460T>A	ENSP00000252804:p.Thr682Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8QM65|D6W4Y0|Q4KMG2	Missense_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.T682S	ENST00000252804.4	37	c.2044	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756202	0.69648	.	.	ENSG00000130508	ENST00000252804	T	0.61040	0.14	4.96	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.50333	1.59	0.51012	D	0.999904	D;D	0.69078	0.988;0.997	D;D	0.68192	0.932;0.956	T	0.64158	-0.6473	10	0.40728	T	0.16	-20.1019	11.0662	0.47976	0.0:0.0745:0.0:0.9255	.	682;682	Q92626-2;Q92626	.;PXDN_HUMAN	S	682	ENSP00000252804:T682S	ENSP00000252804:T682S	T	-	1	0	PXDN	1636467	1.000000	0.71417	0.911000	0.35937	0.250000	0.25880	6.129000	0.71657	0.824000	0.34613	0.477000	0.44152	ACA	PXDN	-	NULL	ENSG00000130508		0.522	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	28	0.00	0	T	XM_056455		1657460	1657460	-1	no_errors	ENST00000252804	ensembl	human	known	69_37n	missense	26	44.68	21	SNP	1.000	A
QRFP	347148	genome.wustl.edu	37	9	133768858	133768858	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:133768858C>T	ENST00000343079.1	-	1	367	c.368G>A	c.(367-369)aGc>aAc	p.S123N		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide									p.S123N(1)		cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		TTTCTTCCTGCTGTAGCCATT	0.617																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											56.0	66.0	63.0					9																	133768858		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"""Endogenous ligands"""	29982	protein-coding gene	gene with protein product	"""prepro-QRFP"""	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.368G>A	9.37:g.133768858C>T	ENSP00000345487:p.Ser123Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_P518	p.S123N	ENST00000343079.1	37	c.368	CCDS6936.1	9	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622950	0.28889	.	.	ENSG00000188710	ENST00000343079	T	0.56776	0.44	4.54	1.35	0.21983	.	0.383945	0.23510	N	0.047408	T	0.36220	0.0959	L	0.49126	1.545	0.28495	N	0.914268	B	0.28291	0.206	B	0.27500	0.08	T	0.11155	-1.0599	10	0.19147	T	0.46	-17.4415	2.189	0.03894	0.1381:0.4886:0.1352:0.2381	.	123	P83859	OX26_HUMAN	N	123	ENSP00000345487:S123N	ENSP00000345487:S123N	S	-	2	0	QRFP	132758679	0.993000	0.37304	0.691000	0.30163	0.760000	0.43138	0.403000	0.20982	0.436000	0.26393	0.462000	0.41574	AGC	QRFP	-	pfam_P518	ENSG00000188710		0.617	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	QRFP	HGNC	protein_coding	OTTHUMT00000254566.1	16	0.00	0	C	NM_198180		133768858	133768858	-1	no_errors	ENST00000343079	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	0.996	T
QSER1	79832	genome.wustl.edu	37	11	32954424	32954424	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:32954424T>C	ENST00000399302.2	+	4	1568	c.1233T>C	c.(1231-1233)ccT>ccC	p.P411P	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	411	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGAATTACCCTGCTCAAACAA	0.398																																						dbGAP											0													82.0	77.0	78.0					11																	32954424		1866	4092	5958	-	-	-	SO:0001819	synonymous_variant	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1233T>C	11.37:g.32954424T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Silent	SNP	NULL	p.P411	ENST00000399302.2	37	c.1233	CCDS41631.1	11																																																																																			QSER1	-	NULL	ENSG00000060749		0.398	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	251	0.00	0	T	NM_024774		32954424	32954424	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	silent	112	39.78	74	SNP	1.000	C
R3HCC1L	27291	genome.wustl.edu	37	10	99968078	99968078	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:99968078A>G	ENST00000298999.3	+	5	510	c.207A>G	c.(205-207)cgA>cgG	p.R69R	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.R69R	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	69							nucleotide binding (GO:0000166)										CGGAGGCTCGAAGACTAAATA	0.348																																						dbGAP											0													71.0	78.0	76.0					10																	99968078		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.207A>G	10.37:g.99968078A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	NULL	p.R69	ENST00000298999.3	37	c.207	CCDS31267.1	10																																																																																			R3HCC1L	-	NULL	ENSG00000166024		0.348	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1	285	0.00	0	A	NM_014472		99968078	99968078	+1	no_errors	ENST00000298999	ensembl	human	known	69_37n	silent	142	39.57	93	SNP	0.001	G
RAB13	5872	genome.wustl.edu	37	1	153954523	153954523	+	3'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:153954523C>T	ENST00000368575.3	-	0	779				RP11-422P24.11_ENST00000608236.1_lincRNA|RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCCCTCTGCCGTTGTCTCC	0.527																																					Ovarian(138;395 2427 24306 43415)	dbGAP											0													61.0	54.0	56.0					1																	153954523		1568	3582	5150	-	-	-	SO:0001624	3_prime_UTR_variant	0			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.*52G>A	1.37:g.153954523C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	SNP	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			RAB13	-	-	ENSG00000143545		0.527	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	54	0.00	0	C	NM_002870		153954523	153954523	-1	no_errors	ENST00000462680	ensembl	human	known	69_37n	rna	72	27.27	27	SNP	0.025	T
RAB3A	5864	genome.wustl.edu	37	19	18313509	18313509	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:18313509G>T	ENST00000222256.4	-	2	220	c.42C>A	c.(40-42)tcC>tcA	p.S14S	RAB3A_ENST00000464076.3_Intron|AC068499.10_ENST00000596473.1_RNA|AC068499.10_ENST00000599416.2_RNA|AC068499.10_ENST00000594805.3_RNA	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	14					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TCTGATCCGAGGACTCCTTCT	0.572											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													228.0	192.0	204.0					19																	18313509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"""RAB, member RAS oncogene"""	9777	protein-coding gene	gene with protein product	"""RAS-associated protein RAB3A"""	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.42C>A	19.37:g.18313509G>T		Somatic	724	WXS	Illumina GAIIx	Phase_IV	A8K0J4|Q9NYE1	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S14	ENST00000222256.4	37	c.42	CCDS12372.1	19																																																																																			RAB3A	-	NULL	ENSG00000105649		0.572	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3A	HGNC	protein_coding	OTTHUMT00000268056.2	95	0.00	0	G	NM_002866		18313509	18313509	-1	no_errors	ENST00000222256	ensembl	human	known	69_37n	silent	83	33.06	41	SNP	0.991	T
RABGGTB	5876	genome.wustl.edu	37	1	76253345	76253345	+	Intron	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:76253345A>G	ENST00000319942.3	+	2	182				RABGGTB_ENST00000535300.1_Intron|SNORD45C_ENST00000383893.1_RNA|SNORD45A_ENST00000384512.1_RNA|SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000370826.3_Intron|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TGACAGTCATAAGCAGTGAGA	0.358																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.111+56A>G	1.37:g.76253345A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92697	RNA	SNP	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			RABGGTB	-	-	ENSG00000137955		0.358	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	62	0.00	0	A	NM_004582		76253345	76253345	+1	no_errors	ENST00000496055	ensembl	human	known	69_37n	rna	30	43.40	23	SNP	0.000	G
RAD18	56852	genome.wustl.edu	37	3	8955390	8955390	+	Nonsense_Mutation	SNP	G	G	A	rs536501018		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:8955390G>A	ENST00000264926.2	-	8	1020	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	302			R -> Q (in dbSNP:rs373572). {ECO:0000269|PubMed:10884424, ECO:0000269|PubMed:10908344, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3, ECO:0000269|Ref.5}.		DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TCGATTTCTCGAACTATTTCA	0.299								Rad6 pathway					G|||	1	0.000199681	0.0	0.0	5008	,	,		18304	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													72.0	69.0	70.0					3																	8955390		2202	4294	6496	-	-	-	SO:0001587	stop_gained	0				CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.904C>T	3.37:g.8955390G>A	ENSP00000264926:p.Arg302*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q58F55|Q9NRT6	Nonsense_Mutation	SNP	pfam_SAP_DNA-bd,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_DNA-bd,pfscan_Znf_RING,pfscan_SAP_DNA-bd	p.R302*	ENST00000264926.2	37	c.904	CCDS2571.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.959521	0.97145	.	.	ENSG00000070950	ENST00000264926	.	.	.	4.47	1.26	0.21427	.	0.113232	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-20.1883	6.0162	0.19605	0.0:0.3106:0.409:0.2805	.	.	.	.	X	302	.	ENSP00000264926:R302X	R	-	1	2	RAD18	8930390	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	0.914000	0.28624	0.147000	0.19030	0.557000	0.71058	CGA	RAD18	-	NULL	ENSG00000070950		0.299	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD18	HGNC	protein_coding	OTTHUMT00000207071.2	79	0.00	0	G	NM_020165		8955390	8955390	-1	no_errors	ENST00000264926	ensembl	human	known	69_37n	nonsense	38	36.67	22	SNP	1.000	A
RAD23A	5886	genome.wustl.edu	37	19	13063583	13063583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:13063583delG	ENST00000586534.1	+	8	955	c.894delG	c.(892-894)gagfs	p.E298fs	RAD23A_ENST00000316856.3_Frame_Shift_Del_p.E297fs|RAD23A_ENST00000592268.1_Intron|RAD23A_ENST00000541222.1_Frame_Shift_Del_p.E133fs			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	298					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CAGATGTGGAGGGGGAGGTGG	0.612								Nucleotide excision repair (NER)																														dbGAP											0													37.0	42.0	40.0					19																	13063583		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.894delG	19.37:g.13063583delG	ENSP00000467024:p.Glu298fs	Somatic		WXS	Illumina GAIIx	Phase_IV	K7ESE3|Q59EU8|Q5M7Z1	Frame_Shift_Del	DEL	pfam_XPC-bd,pfam_UBA/transl_elong_EF1B_N,pfam_Ubiquitin,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23	p.E300fs	ENST00000586534.1	37	c.894	CCDS12289.1	19																																																																																			RAD23A	-	superfamily_UBA-like,tigrfam_Rad23	ENSG00000179262		0.612	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD23A	HGNC	protein_coding	OTTHUMT00000452752.1	41	0.00	0	G	NM_005053		13063583	13063583	+1	no_errors	ENST00000586534	ensembl	human	known	69_37n	frame_shift_del	43	37.68	26	DEL	1.000	-
RAF1	5894	genome.wustl.edu	37	3	12647703	12647703	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:12647703A>T	ENST00000251849.4	-	6	1116	c.677T>A	c.(676-678)gTt>gAt	p.V226D	RAF1_ENST00000542177.1_Missense_Mutation_p.V145D|RAF1_ENST00000442415.2_Missense_Mutation_p.V226D|RAF1_ENST00000534997.1_Intron	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	226					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	AAATTACCTAACAGGCATCCT	0.403			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													dbGAP		Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													59.0	58.0	58.0					3																	12647703		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.677T>A	3.37:g.12647703A>T	ENSP00000251849:p.Val226Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.V226D	ENST00000251849.4	37	c.677	CCDS2612.1	3	.	.	.	.	.	.	.	.	.	.	A	10.57	1.387819	0.25031	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000542177	T;T;T	0.75704	-0.96;-0.9;-0.96	5.98	3.27	0.37495	.	0.477188	0.22713	N	0.056553	T	0.60547	0.2277	L	0.36672	1.1	0.80722	D	1	B;B	0.28128	0.201;0.0	B;B	0.21360	0.034;0.0	T	0.51379	-0.8713	10	0.33940	T	0.23	.	9.0518	0.36380	0.8217:0.0:0.1783:0.0	.	145;226	B4E0X2;P04049	.;RAF1_HUMAN	D	226;226;145	ENSP00000251849:V226D;ENSP00000401888:V226D;ENSP00000443567:V145D	ENSP00000251849:V226D	V	-	2	0	RAF1	12622703	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.456000	0.44997	0.371000	0.24564	0.528000	0.53228	GTT	RAF1	-	NULL	ENSG00000132155		0.403	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAF1	HGNC	protein_coding	OTTHUMT00000252015.2	69	0.00	0	A	NM_002880		12647703	12647703	-1	no_errors	ENST00000442415	ensembl	human	known	69_37n	missense	43	31.75	20	SNP	0.998	T
RAI2	10742	genome.wustl.edu	37	X	17819461	17819461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:17819461delG	ENST00000545871.1	-	3	1130	c.670delC	c.(670-672)ctgfs	p.L224fs	RAI2_ENST00000331511.1_Frame_Shift_Del_p.L224fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.L224fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.L174fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.L224fs	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	224	Pro-rich.				embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGTGGGACCAGGGGGGACAAG	0.627																																						dbGAP											0													30.0	31.0	31.0					X																	17819461		2202	4295	6497	-	-	-	SO:0001589	frameshift_variant	0			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.670delC	X.37:g.17819461delG	ENSP00000444210:p.Leu224fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Frame_Shift_Del	DEL	NULL	p.L224fs	ENST00000545871.1	37	c.670	CCDS14183.1	X																																																																																			RAI2	-	NULL	ENSG00000131831		0.627	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI2	HGNC	protein_coding	OTTHUMT00000055937.1	78	0.00	0	G	NM_021785		17819461	17819461	-1	no_errors	ENST00000331511	ensembl	human	known	69_37n	frame_shift_del	61	33.33	31	DEL	0.033	-
RALGDS	5900	genome.wustl.edu	37	9	135975404	135975404	+	Intron	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:135975404C>A	ENST00000372050.3	-	17	2591				RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000393160.3_Intron|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Intron|RALGDS_ENST00000393157.3_Intron	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGAAAAATGCCTTTTCTCTTT	0.522			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	dbGAP		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0																																										-	-	-	SO:0001627	intron_variant	0			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2569+250G>T	9.37:g.135975404C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	RNA	SNP	-	NULL	ENST00000372050.3	37	NULL	CCDS6959.1	9																																																																																			RALGDS	-	-	ENSG00000160271		0.522	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	22	0.00	0	C	NM_006266		135975404	135975404	-1	no_errors	ENST00000469972	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	0.000	A
RASAL3	64926	genome.wustl.edu	37	19	15565311	15565311	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:15565311G>A	ENST00000343625.7	-	13	2106	c.2021C>T	c.(2020-2022)gCc>gTc	p.A674V	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	674					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GCATTGCATGGCTGGTCCATG	0.592											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													104.0	112.0	110.0					19																	15565311		2104	4211	6315	-	-	-	SO:0001583	missense	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2021C>T	19.37:g.15565311G>A	ENSP00000341905:p.Ala674Val	Somatic	703	WXS	Illumina GAIIx	Phase_IV	Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.A674V	ENST00000343625.7	37	c.2021	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058955	0.76074	.	.	ENSG00000105122	ENST00000343625	D	0.82893	-1.66	5.29	5.29	0.74685	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.37955	U	0.001872	D	0.87939	0.6304	M	0.63428	1.95	0.35169	D	0.771346	D;D	0.67145	0.996;0.993	D;P	0.62955	0.909;0.866	D	0.91687	0.5363	10	0.72032	D	0.01	.	12.2035	0.54339	0.0:0.1718:0.8281:0.0	.	674;674	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	V	674	ENSP00000341905:A674V	ENSP00000341905:A674V	A	-	2	0	RASAL3	15426311	0.027000	0.19231	0.998000	0.56505	0.990000	0.78478	0.920000	0.28705	2.480000	0.83734	0.561000	0.74099	GCC	RASAL3	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000105122		0.592	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	41	0.00	0	G	NM_022904		15565311	15565311	-1	no_errors	ENST00000343625	ensembl	human	known	69_37n	missense	25	44.44	20	SNP	1.000	A
RASAL3	64926	genome.wustl.edu	37	19	15565528	15565528	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:15565528C>T	ENST00000343625.7	-	12	1983	c.1898G>A	c.(1897-1899)gGc>gAc	p.G633D	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	633	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GCGGGCTGGGCCGGGTGCTGG	0.672											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													26.0	33.0	31.0					19																	15565528		2089	4230	6319	-	-	-	SO:0001583	missense	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1898G>A	19.37:g.15565528C>T	ENSP00000341905:p.Gly633Asp	Somatic	703	WXS	Illumina GAIIx	Phase_IV	Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP	p.G633D	ENST00000343625.7	37	c.1898	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577556	0.28180	.	.	ENSG00000105122	ENST00000343625	T	0.77877	-1.13	4.76	2.59	0.31030	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.220715	0.22008	U	0.065906	T	0.63498	0.2516	L	0.32530	0.975	0.30185	N	0.800067	B;B	0.28470	0.178;0.213	B;B	0.32022	0.124;0.139	T	0.57791	-0.7750	10	0.40728	T	0.16	.	3.6966	0.08367	0.1709:0.5713:0.1657:0.0921	.	633;633	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	D	633	ENSP00000341905:G633D	ENSP00000341905:G633D	G	-	2	0	RASAL3	15426528	0.014000	0.17966	0.509000	0.27700	0.765000	0.43378	0.242000	0.18087	0.532000	0.28657	0.561000	0.74099	GGC	RASAL3	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000105122		0.672	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	11	0.00	0	C	NM_022904		15565528	15565528	-1	no_errors	ENST00000343625	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	0.599	T
RASEF	158158	genome.wustl.edu	37	9	85630787	85630787	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:85630787C>A	ENST00000376447.3	-	4	958	c.698G>T	c.(697-699)aGt>aTt	p.S233I		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	233					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTGAGGTCACTGAGGGCTTC	0.418																																						dbGAP											0													233.0	219.0	224.0					9																	85630787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.698G>T	9.37:g.85630787C>A	ENSP00000365630:p.Ser233Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC29|Q96N04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S233I	ENST00000376447.3	37	c.698	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640217	0.47153	.	.	ENSG00000165105	ENST00000376447	T	0.61510	0.1	6.16	-1.4	0.08968	.	0.401166	0.32301	N	0.006288	T	0.39172	0.1068	N	0.24115	0.695	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.18935	-1.0321	10	0.59425	D	0.04	.	11.587	0.50925	0.0:0.1316:0.7447:0.1237	.	233	Q8IZ41	RASEF_HUMAN	I	233	ENSP00000365630:S233I	ENSP00000365630:S233I	S	-	2	0	RASEF	84820607	0.916000	0.31088	0.987000	0.45799	0.997000	0.91878	0.138000	0.16016	-0.094000	0.12374	0.650000	0.86243	AGT	RASEF	-	superfamily_Vinculin/catenin	ENSG00000165105		0.418	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	338	0.00	0	C	NM_152573		85630787	85630787	-1	no_errors	ENST00000376447	ensembl	human	known	69_37n	missense	200	41.52	142	SNP	0.978	A
RASSF4	83937	genome.wustl.edu	37	10	45478052	45478052	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:45478052C>T	ENST00000340258.5	+	4	335	c.222C>T	c.(220-222)gaC>gaT	p.D74D	RASSF4_ENST00000334940.6_Silent_p.D56D|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_Silent_p.D74D	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	610					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCAGGATGACCGGGAGCAGG	0.637																																						dbGAP											0													78.0	78.0	78.0					10																	45478052		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.222C>T	10.37:g.45478052C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.D56	ENST00000340258.5	37	c.168	CCDS7208.1	10																																																																																			RASSF4	-	NULL	ENSG00000107551		0.637	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF4	HGNC	protein_coding	OTTHUMT00000047745.2	23	0.00	0	C	NM_032023		45478052	45478052	+1	no_errors	ENST00000334940	ensembl	human	known	69_37n	silent	13	40.91	9	SNP	1.000	T
RBAK	57786	genome.wustl.edu	37	7	5104215	5104215	+	Silent	SNP	C	C	T	rs551906212		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:5104215C>T	ENST00000353796.3	+	6	1452	c.1128C>T	c.(1126-1128)aaC>aaT	p.N376N	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Silent_p.N376N	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	376					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATCCATGTAACGAATGTGGGA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		20958	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													140.0	140.0	140.0					7																	5104215		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1128C>T	7.37:g.5104215C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N376	ENST00000353796.3	37	c.1128	CCDS5337.1	7																																																																																			RBAK	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000146587		0.468	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	358	0.00	0	C	NM_021163		5104215	5104215	+1	no_errors	ENST00000353796	ensembl	human	known	69_37n	silent	227	43.00	172	SNP	0.004	T
RBBP5	5929	genome.wustl.edu	37	1	205073020	205073020	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:205073020C>T	ENST00000264515.6	-	5	628	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	RBBP5_ENST00000484379.1_5'Flank|RBBP5_ENST00000367164.1_Missense_Mutation_p.G163R	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	163					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ATATATTCCCCTCGCCTATCA	0.433																																						dbGAP											0													202.0	195.0	197.0					1																	205073020		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.487G>A	1.37:g.205073020C>T	ENSP00000264515:p.Gly163Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G163R	ENST00000264515.6	37	c.487	CCDS30983.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.785200	0.96937	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.21932	1.98;1.98	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.092947	0.85682	D	0.000000	T	0.59032	0.2164	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	D;D;D;D	0.97110	1.0;0.977;0.984;0.916	T	0.64537	-0.6384	10	0.66056	D	0.02	.	20.4548	0.99139	0.0:1.0:0.0:0.0	.	36;198;163;163	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	R	163	ENSP00000264515:G163R;ENSP00000356132:G163R	ENSP00000264515:G163R	G	-	1	0	RBBP5	203339643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.368000	0.79567	2.937000	0.99478	0.650000	0.86243	GGG	RBBP5	-	NULL	ENSG00000117222		0.433	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP5	HGNC	protein_coding	OTTHUMT00000090077.1	414	0.00	0	C	NM_005057		205073020	205073020	-1	no_errors	ENST00000264515	ensembl	human	known	69_37n	missense	452	24.67	148	SNP	1.000	T
RBM10	8241	genome.wustl.edu	37	X	47046095	47046095	+	3'UTR	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:47046095G>A	ENST00000377604.3	+	0	3632				RBM10_ENST00000345781.6_3'UTR|RBM10_ENST00000329236.7_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGCTCTTGTCGGCCAGCCCAC	0.537																																					Melanoma(171;120 2705 19495 39241)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.*97G>A	X.37:g.47046095G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	RNA	SNP	-	NULL	ENST00000377604.3	37	NULL	CCDS14274.1	X																																																																																			RBM10	-	-	ENSG00000182872		0.537	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	15	0.00	0	G	NM_005676		47046095	47046095	+1	no_errors	ENST00000468791	ensembl	human	known	69_37n	rna	12	45.45	10	SNP	0.000	A
RBM12	10137	genome.wustl.edu	37	20	34242344	34242344	+	Missense_Mutation	SNP	G	G	T	rs151048925	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:34242344G>T	ENST00000374114.3	-	3	1164	c.901C>A	c.(901-903)Cct>Act	p.P301T	CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P301T|RBM12_ENST00000359646.1_Missense_Mutation_p.P301T	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	301	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGATCATCAGGGTTGATGGGG	0.428																																						dbGAP											0													78.0	77.0	78.0					20																	34242344		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.901C>A	20.37:g.34242344G>T	ENSP00000363228:p.Pro301Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P301T	ENST00000374114.3	37	c.901	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469455	0.43839	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.29142	1.58;1.58;1.58	4.86	3.89	0.44902	.	0.153345	0.43579	D	0.000560	T	0.23289	0.0563	L	0.27053	0.805	0.80722	D	1	B	0.16166	0.016	B	0.14023	0.01	T	0.03483	-1.1032	10	0.42905	T	0.14	-4.7111	14.4724	0.67526	0.0:0.0:0.8519:0.1481	.	301	Q9NTZ6	RBM12_HUMAN	T	301;301;301;100	ENSP00000363228:P301T;ENSP00000352668:P301T;ENSP00000363217:P301T	ENSP00000339879:P100T	P	-	1	0	RBM12	33705758	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.385000	0.79763	1.235000	0.43724	0.555000	0.69702	CCT	RBM12	-	NULL	ENSG00000244462		0.428	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	134	0.00	0	G	NM_006047		34242344	34242344	-1	no_errors	ENST00000359646	ensembl	human	known	69_37n	missense	91	37.24	54	SNP	1.000	T
RBMXL1	494115	genome.wustl.edu	37	1	89448956	89448956	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:89448956C>T	ENST00000321792.5	-	2	981	c.554G>A	c.(553-555)cGt>cAt	p.R185H	CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R185H|CCBL2_ENST00000260508.4_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	185					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ATCTCTTCCACGTGATAGAGG	0.512																																						dbGAP											0													172.0	173.0	173.0					1																	89448956		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.554G>A	1.37:g.89448956C>T	ENSP00000318415:p.Arg185His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R185H	ENST00000321792.5	37	c.554	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905496	0.52333	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.77620	-1.11;-1.11	2.06	-1.6	0.08426	RBM1CTR (1);	0.057517	0.64402	D	0.000003	T	0.47377	0.1442	L	0.48642	1.525	0.31390	N	0.677962	B	0.18013	0.025	B	0.19148	0.024	T	0.18777	-1.0326	10	0.59425	D	0.04	-5.3296	6.0581	0.19822	0.0:0.5562:0.0:0.4438	.	185	Q96E39	RBMXL_HUMAN	H	185	ENSP00000318415:R185H;ENSP00000446099:R185H	ENSP00000318415:R185H	R	-	2	0	RBMXL1	89221544	1.000000	0.71417	0.006000	0.13384	0.867000	0.49689	2.942000	0.49018	-0.618000	0.05656	0.306000	0.20318	CGT	RBMXL1	-	pfam_RBM1CTR	ENSG00000213516		0.512	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	241	0.41	1	C	NM_019610		89448956	89448956	-1	no_errors	ENST00000321792	ensembl	human	known	69_37n	missense	141	41.74	101	SNP	0.972	T
RBP3	5949	genome.wustl.edu	37	10	48388823	48388823	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:48388823C>T	ENST00000224600.4	-	1	2168	c.2055G>A	c.(2053-2055)caG>caA	p.Q685Q	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	685	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTGCTGTGAGCTGAGAGGCCA	0.672																																						dbGAP											0													32.0	37.0	35.0					10																	48388823		2198	4292	6490	-	-	-	SO:0001819	synonymous_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2055G>A	10.37:g.48388823C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.Q685	ENST00000224600.4	37	c.2055	CCDS7218.1	10																																																																																			RBP3	-	NULL	ENSG00000107618		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	10	0.00	0	C	NM_002900		48388823	48388823	-1	no_errors	ENST00000224600	ensembl	human	known	69_37n	silent	9	40.00	6	SNP	1.000	T
IPO4	79711	genome.wustl.edu	37	14	24646920	24646921	+	IGR	INS	-	-	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:24646920_24646921insC	ENST00000354464.6	-	0	3646				REC8_ENST00000559919.1_Frame_Shift_Ins_p.T273fs|REC8_ENST00000311457.3_Frame_Shift_Ins_p.T273fs	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGCAGAGGTGACCCCCCCGGAG	0.614																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24646927_24646927dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Frame_Shift_Ins	INS	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.E276fs	ENST00000354464.6	37	c.817_818	CCDS9616.1	14																																																																																			REC8	-	NULL	ENSG00000100918		0.614	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000071931.4	22	0.00	0	-	NM_024658		24646920	24646921	+1	no_errors	ENST00000311457	ensembl	human	known	69_37n	frame_shift_ins	13	35.00	7	INS	0.997:0.480	C
RELA	5970	genome.wustl.edu	37	11	65427200	65427200	+	Missense_Mutation	SNP	G	G	A	rs568782744		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:65427200G>A	ENST00000406246.3	-	6	757	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	RELA_ENST00000308639.9_Missense_Mutation_p.R163W|RELA_ENST00000525693.1_Missense_Mutation_p.R166W	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	166	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GATGGGTCCCGCACTGTCACC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18315	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													58.0	60.0	59.0					11																	65427200		2201	4297	6498	-	-	-	SO:0001583	missense	0			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.496C>T	11.37:g.65427200G>A	ENSP00000384273:p.Arg166Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.R166W	ENST00000406246.3	37	c.496	CCDS31609.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.287630|4.287630	0.80803|0.80803	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000532879|ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749	.|T;T;T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91;0.91;0.91	4.71|4.71	4.71|4.71	0.59529|0.59529	.|Rel homology (3);p53-like transcription factor, DNA-binding (1);	.|0.209206	.|0.39759	.|N	.|0.001280	T|T	0.51075|0.51075	0.1653|0.1653	L|L	0.36672|0.36672	1.1|1.1	0.41923|0.41923	D|D	0.99052|0.99052	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;0.998;0.999;0.992	.|P;P;P;P;P;P	.|0.61132	.|0.884;0.807;0.78;0.559;0.842;0.842	T|T	0.55418|0.55418	-0.8144|-0.8144	6|10	0.30078|0.66056	T|D	0.28|0.02	-8.233|-8.233	15.1604|15.1604	0.72778|0.72778	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|166;153;163;166;177;166	.|Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.|.;.;.;TF65_HUMAN;.;.	V|W	146|166;166;163;166;177;177;157;135	.|ENSP00000384273:R166W;ENSP00000432537:R166W;ENSP00000311508:R163W;ENSP00000433526:R177W;ENSP00000434372:R157W;ENSP00000436545:R135W	ENSP00000432922:A116V|ENSP00000311508:R163W	A|R	-|-	2|1	0|2	RELA|RELA	65183776|65183776	0.955000|0.955000	0.32602|0.32602	0.996000|0.996000	0.52242|0.52242	0.924000|0.924000	0.55760|0.55760	4.943000|4.943000	0.63554|0.63554	2.163000|2.163000	0.67991|0.67991	0.455000|0.455000	0.32223|0.32223	GCG|CGG	RELA	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000173039		0.597	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	69	0.00	0	G	NM_021975		65427200	65427200	-1	no_errors	ENST00000406246	ensembl	human	known	69_37n	missense	36	40.00	24	SNP	0.974	A
RELB	5971	genome.wustl.edu	37	19	45515438	45515438	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:45515438C>T	ENST00000221452.8	+	4	558	c.408C>T	c.(406-408)cgC>cgT	p.R136R	RELB_ENST00000505236.1_Silent_p.R133R|RELB_ENST00000540120.1_Silent_p.R136R	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	136	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CCAAGCAGCGCGGCATGCGCT	0.746																																						dbGAP											0													10.0	11.0	10.0					19																	45515438		2063	4049	6112	-	-	-	SO:0001819	synonymous_variant	0			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.408C>T	19.37:g.45515438C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTX7|Q9UEI7	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.R136	ENST00000221452.8	37	c.408	CCDS46110.1	19																																																																																			RELB	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor	ENSG00000104856		0.746	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	9	0.00	0	C			45515438	45515438	+1	no_errors	ENST00000221452	ensembl	human	known	69_37n	silent	8	57.89	11	SNP	0.998	T
REPIN1	29803	genome.wustl.edu	37	7	150069796	150069796	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:150069796G>A	ENST00000425389.2	+	1	1544	c.1466G>A	c.(1465-1467)tGc>tAc	p.C489Y	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000397281.2_Missense_Mutation_p.C489Y|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.C489Y|REPIN1_ENST00000489432.2_Missense_Mutation_p.C546Y|REPIN1_ENST00000540729.1_Missense_Mutation_p.C489Y	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	489					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCCTACGTCTGCCCCGACTGC	0.692																																						dbGAP											0													37.0	44.0	42.0					7																	150069796		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1466G>A	7.37:g.150069796G>A	ENSP00000388287:p.Cys489Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C546Y	ENST00000425389.2	37	c.1637	CCDS43677.1	7	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772089	0.69992	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94248	0.8153	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95661	0.8715	9	0.87932	D	0	-5.1764	13.8973	0.63781	0.0:0.0:1.0:0.0	.	546;489	C9J3L7;Q9BWE0	.;REPI1_HUMAN	Y	489;489;489;546;489	ENSP00000445016:C489Y;ENSP00000380451:C489Y;ENSP00000407714:C489Y;ENSP00000417291:C546Y;ENSP00000388287:C489Y	ENSP00000380451:C489Y	C	+	2	0	REPIN1	149700729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.360000	0.97119	2.142000	0.66516	0.462000	0.41574	TGC	REPIN1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000214022		0.692	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	HGNC	protein_coding	OTTHUMT00000376940.1	15	0.00	0	G	NM_014374		150069796	150069796	+1	no_errors	ENST00000489432	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	0.997	A
REPS2	9185	genome.wustl.edu	37	X	17153383	17153383	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:17153383G>A	ENST00000357277.3	+	16	1833		c.e16-1		REPS2_ENST00000303843.7_Splice_Site|REPS2_ENST00000380064.4_Splice_Site|REPS2_ENST00000469714.1_Splice_Site	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2						epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TAAATCCACAGGATGTACTGT	0.423																																						dbGAP											0													101.0	106.0	104.0					X																	17153383		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1663-1G>A	X.37:g.17153383G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Splice_Site	SNP	-	e16-1	ENST00000357277.3	37	c.1663-1	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	G	9.621	1.133943	0.21123	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	.	.	.	5.57	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.228	0.59924	0.0791:0.0:0.9209:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	REPS2	17063304	1.000000	0.71417	0.633000	0.29310	0.147000	0.21601	7.358000	0.79466	1.112000	0.41740	0.600000	0.82982	.	REPS2	-	-	ENSG00000169891		0.423	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	HGNC	protein_coding	OTTHUMT00000316778.1	787	0.00	0	G	NM_004726	Intron	17153383	17153383	+1	no_errors	ENST00000357277	ensembl	human	known	69_37n	splice_site	451	40.66	309	SNP	1.000	A
REV1	51455	genome.wustl.edu	37	2	100019368	100019368	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:100019368G>T	ENST00000258428.3	-	20	3596	c.3368C>A	c.(3367-3369)cCt>cAt	p.P1123H	REV1_ENST00000393445.3_Missense_Mutation_p.P1122H|REV1_ENST00000465835.1_5'Flank|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1123					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTCTCTGCAGGAGGTCCTTC	0.393								Direct reversal of damage																														dbGAP											0													96.0	103.0	101.0					2																	100019368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3368C>A	2.37:g.100019368G>T	ENSP00000258428:p.Pro1123His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.P1123H	ENST00000258428.3	37	c.3368	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	G	7.207	0.594646	0.13875	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.26810	1.71;1.71	5.86	1.69	0.24217	.	0.912351	0.09568	N	0.784502	T	0.16557	0.0398	N	0.14661	0.345	0.09310	N	1	P;P	0.42649	0.681;0.786	B;B	0.40329	0.315;0.326	T	0.16482	-1.0401	10	0.52906	T	0.07	.	9.4464	0.38699	0.3901:0.0:0.6099:0.0	.	1123;1122	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	H	1122;1123	ENSP00000377091:P1122H;ENSP00000258428:P1123H	ENSP00000258428:P1123H	P	-	2	0	REV1	99385800	0.001000	0.12720	0.003000	0.11579	0.241000	0.25554	0.532000	0.23067	0.015000	0.14971	-0.345000	0.07892	CCT	REV1	-	pirsf_REV1	ENSG00000135945		0.393	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	243	0.00	0	G	NM_016316		100019368	100019368	-1	no_errors	ENST00000258428	ensembl	human	known	69_37n	missense	102	46.63	90	SNP	0.001	T
RFWD3	55159	genome.wustl.edu	37	16	74657947	74657947	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:74657947G>A	ENST00000361070.4	-	13	2301	c.2204C>T	c.(2203-2205)tCg>tTg	p.S735L	RFWD3_ENST00000571750.1_Missense_Mutation_p.S735L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	735					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CTGGAGCAACGAGCCACTGGC	0.507																																						dbGAP											0													76.0	58.0	64.0					16																	74657947		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.2204C>T	16.37:g.74657947G>A	ENSP00000354361:p.Ser735Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.S735L	ENST00000361070.4	37	c.2204	CCDS32486.1	16	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882395	0.33255	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.30448	1.53	5.66	0.901	0.19284	WD40/YVTN repeat-like-containing domain (1);	0.536009	0.21094	N	0.080266	T	0.24774	0.0601	L	0.49350	1.555	0.09310	N	0.999997	B	0.20988	0.05	B	0.14023	0.01	T	0.18461	-1.0336	10	0.31617	T	0.26	-15.9661	10.3323	0.43829	0.1296:0.2231:0.6473:0.0	.	735	Q6PCD5	RFWD3_HUMAN	L	735;224	ENSP00000354361:S735L	ENSP00000354361:S735L	S	-	2	0	RFWD3	73215448	0.891000	0.30450	0.208000	0.23602	0.523000	0.34469	1.664000	0.37439	0.308000	0.22923	-0.218000	0.12543	TCG	RFWD3	-	smart_WD40_repeat	ENSG00000168411		0.507	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	HGNC	protein_coding	OTTHUMT00000436506.2	58	0.00	0	G	NM_018124		74657947	74657947	-1	no_errors	ENST00000361070	ensembl	human	known	69_37n	missense	12	69.23	27	SNP	0.140	A
RFX5	5993	genome.wustl.edu	37	1	151315417	151315417	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:151315417G>T	ENST00000290524.4	-	11	1274	c.1096C>A	c.(1096-1098)Cct>Act	p.P366T	RFX5_ENST00000452671.2_Missense_Mutation_p.P366T|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Missense_Mutation_p.P326T|RFX5_ENST00000368870.2_Missense_Mutation_p.P366T|RP11-126K1.8_ENST00000422153.1_RNA	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	366					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTAGACAGAGGCAGTGTAGCC	0.597																																						dbGAP											0													38.0	46.0	44.0					1																	151315417		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1096C>A	1.37:g.151315417G>T	ENSP00000290524:p.Pro366Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.P366T	ENST00000290524.4	37	c.1096	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457315	0.63401	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.65178	-0.06;-0.06;-0.06;-0.14;-0.05	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000036	T	0.63792	0.2541	L	0.34521	1.04	0.38577	D	0.950092	D;D	0.89917	0.999;1.0	D;D	0.83275	0.922;0.996	T	0.64330	-0.6433	10	0.45353	T	0.12	-13.6683	15.7437	0.77922	0.0:0.0:1.0:0.0	.	326;366	B7Z848;P48382	.;RFX5_HUMAN	T	366;366;366;326;366	ENSP00000290524:P366T;ENSP00000357864:P366T;ENSP00000389130:P366T;ENSP00000398388:P326T;ENSP00000376502:P366T	ENSP00000290524:P366T	P	-	1	0	RFX5	149582041	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.883000	0.63128	2.736000	0.93811	0.591000	0.81541	CCT	RFX5	-	NULL	ENSG00000143390		0.597	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	109	0.00	0	G	NM_000449		151315417	151315417	-1	no_errors	ENST00000290524	ensembl	human	known	69_37n	missense	164	23.36	50	SNP	1.000	T
RGL1	23179	genome.wustl.edu	37	1	183775617	183775617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:183775617delG	ENST00000360851.3	+	2	314	c.136delG	c.(136-138)gggfs	p.G46fs	RGL1_ENST00000304685.4_Frame_Shift_Del_p.G81fs|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000539189.1_Frame_Shift_Del_p.G46fs			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	46					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AAGATGGCTAGGGGTGAGTAA	0.438																																						dbGAP											0													84.0	76.0	79.0					1																	183775617		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.136delG	1.37:g.183775617delG	ENSP00000354097:p.Gly46fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Frame_Shift_Del	DEL	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V82fs	ENST00000360851.3	37	c.241		1																																																																																			RGL1	-	superfamily_Ras_GEF_dom	ENSG00000143344		0.438	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	91	0.00	0	G	NM_015149		183775617	183775617	+1	no_errors	ENST00000304685	ensembl	human	known	69_37n	frame_shift_del	85	24.11	27	DEL	1.000	-
RGPD3	653489	genome.wustl.edu	37	2	107057796	107057796	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:107057796C>T	ENST00000409886.3	-	8	1106	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E	RGPD3_ENST00000304514.7_Missense_Mutation_p.G340E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	340					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAGATTTTGTCCAGCTTCACC	0.289																																						dbGAP											0													19.0	17.0	17.0					2																	107057796		692	1574	2266	-	-	-	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.1019G>A	2.37:g.107057796C>T	ENSP00000386588:p.Gly340Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.G340E	ENST00000409886.3	37	c.1019	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.77	1.738386	0.30774	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.28069	1.63;1.63	2.35	2.35	0.29111	.	.	.	.	.	T	0.31009	0.0783	M	0.62723	1.935	0.29212	N	0.87451	D	0.62365	0.991	B	0.43701	0.428	T	0.24693	-1.0153	9	0.51188	T	0.08	-23.2559	8.221	0.31541	0.0:1.0:0.0:0.0	.	340	A6NKT7	RGPD3_HUMAN	E	340;98;340	ENSP00000386588:G340E;ENSP00000303659:G340E	ENSP00000303659:G340E	G	-	2	0	RGPD3	106424228	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	1.636000	0.37144	1.314000	0.45095	0.186000	0.17326	GGA	RGPD3	-	NULL	ENSG00000153165		0.289	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	103	0.00	0	C	XM_929931		107057796	107057796	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	missense	44	42.11	32	SNP	1.000	T
RGS14	10636	genome.wustl.edu	37	5	176798485	176798485	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:176798485C>T	ENST00000408923.3	+	14	1581	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	465					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTGCCCACCTAGAACTCA	0.612																																					NSCLC(47;353 1896 28036)	dbGAP											0													121.0	133.0	129.0					5																	176798485		1969	4159	6128	-	-	-	SO:0001583	missense	0			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1393C>T	5.37:g.176798485C>T	ENSP00000386229:p.Pro465Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.P465S	ENST00000408923.3	37	c.1393	CCDS43405.1	5	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090273	0.20390	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.38240	1.15	4.72	3.85	0.44370	.	0.764041	0.12402	N	0.472016	T	0.24661	0.0598	N	0.24115	0.695	0.09310	N	1	P;P;B	0.50272	0.911;0.933;0.049	B;P;B	0.47346	0.42;0.544;0.065	T	0.04440	-1.0951	10	0.12430	T	0.62	-4.6414	4.2101	0.10507	0.1837:0.6278:0.0:0.1884	.	236;313;465	B3KUX0;O43566-5;O43566	.;.;RGS14_HUMAN	S	465;246	ENSP00000386229:P465S	ENSP00000336864:P246S	P	+	1	0	RGS14	176731091	0.021000	0.18746	0.010000	0.14722	0.127000	0.20565	2.239000	0.43079	1.216000	0.43427	0.557000	0.71058	CCT	RGS14	-	NULL	ENSG00000169220		0.612	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	127	0.78	1	C	NM_006480		176798485	176798485	+1	no_errors	ENST00000408923	ensembl	human	known	69_37n	missense	81	40.00	54	SNP	0.000	T
RGS6	9628	genome.wustl.edu	37	14	72976894	72976894	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:72976894G>T	ENST00000553530.1	+	14	1205	c.998G>T	c.(997-999)tGg>tTg	p.W333L	RGS6_ENST00000554782.1_Missense_Mutation_p.W194L|RGS6_ENST00000556437.1_Missense_Mutation_p.W333L|RGS6_ENST00000404301.2_Missense_Mutation_p.W333L|RGS6_ENST00000402788.2_Missense_Mutation_p.W333L|RGS6_ENST00000553525.1_Missense_Mutation_p.W333L|RGS6_ENST00000355512.6_Missense_Mutation_p.W333L|RGS6_ENST00000407322.4_Missense_Mutation_p.W333L|RGS6_ENST00000406236.4_Missense_Mutation_p.W333L|RGS6_ENST00000434263.2_Missense_Mutation_p.W264L|RGS6_ENST00000343854.6_Missense_Mutation_p.W296L|RGS6_ENST00000555571.1_Missense_Mutation_p.W333L	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	333					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GTAAAAAGATGGGGCTTCTCT	0.458																																					Ovarian(143;1926 2468 21071 48641)	dbGAP											0													115.0	130.0	125.0					14																	72976894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.998G>T	14.37:g.72976894G>T	ENSP00000452331:p.Trp333Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.W333L	ENST00000553530.1	37	c.998	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911377	0.92178	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.72	4.8	0.61643	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.049272	0.85682	N	0.000000	T	0.67344	0.2883	H	0.96547	3.84	0.80722	D	1	P;D;P;D	0.71674	0.944;0.998;0.893;0.992	P;D;B;P	0.65773	0.517;0.938;0.365;0.828	T	0.80450	-0.1377	10	0.87932	D	0	-22.7517	16.172	0.81825	0.0:0.0:0.8657:0.1343	.	264;333;338;333	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	L	333;333;333;333;333;333;333;333;333;296;305;264;194;194	ENSP00000451030:W333L;ENSP00000450936:W333L;ENSP00000452331:W333L;ENSP00000451855:W333L;ENSP00000347699:W333L;ENSP00000385243:W333L;ENSP00000384218:W333L;ENSP00000384612:W333L;ENSP00000383953:W333L;ENSP00000341199:W296L;ENSP00000412144:W264L;ENSP00000451912:W194L	ENSP00000341199:W296L	W	+	2	0	RGS6	72046647	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	1.496000	0.48567	0.655000	0.94253	TGG	RGS6	-	superfamily_Regulat_G_prot_signal_superfam,prints_Regulat_G_prot_signal	ENSG00000182732		0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	356	0.00	0	G			72976894	72976894	+1	no_errors	ENST00000553525	ensembl	human	known	69_37n	missense	210	43.09	159	SNP	1.000	T
RGS7BP	401190	genome.wustl.edu	37	5	63904998	63904998	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:63904998C>T	ENST00000334025.2	+	6	1019	c.693C>T	c.(691-693)agC>agT	p.S231S		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	231					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ATGACAGCAGCCTTCTGAATC	0.473																																						dbGAP											0													168.0	148.0	154.0					5																	63904998		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.693C>T	5.37:g.63904998C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3X1	Silent	SNP	NULL	p.S231	ENST00000334025.2	37	c.693	CCDS34170.1	5																																																																																			RGS7BP	-	NULL	ENSG00000186479		0.473	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS7BP	HGNC	protein_coding	OTTHUMT00000368464.1	241	0.00	0	C	NM_001029875		63904998	63904998	+1	no_errors	ENST00000334025	ensembl	human	known	69_37n	silent	129	40.55	88	SNP	1.000	T
RHOA	387	genome.wustl.edu	37	3	49397662	49397663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:49397662_49397663insT	ENST00000418115.1	-	5	945_946	c.561_562insA	c.(559-564)aaatctfs	p.S188fs	GPX1_ENST00000496791.1_5'Flank|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000419783.1_5'Flank|RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	188					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGGCACCCAGATTTTTTCTTCC	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.562dupA	3.37:g.49397668_49397668dupT	ENSP00000400175:p.Ser188fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S187fs	ENST00000418115.1	37	c.562_561	CCDS2795.1	3																																																																																			RHOA	-	NULL	ENSG00000067560		0.436	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	224	0.00	0	-	NM_001664		49397662	49397663	-1	no_errors	ENST00000418115	ensembl	human	known	69_37n	frame_shift_ins	33	63.74	58	INS	1.000:1.000	T
RHPN2	85415	genome.wustl.edu	37	19	33470970	33470970	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:33470970G>A	ENST00000254260.3	-	15	2028	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	RHPN2_ENST00000588683.1_5'UTR|RHPN2_ENST00000400226.4_Missense_Mutation_p.R514W	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	665					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					ACCTGAGGCCGTGCAGCCCCG	0.522																																						dbGAP											0													48.0	49.0	49.0					19																	33470970		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1993C>T	19.37:g.33470970G>A	ENSP00000254260:p.Arg665Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.R665W	ENST00000254260.3	37	c.1993	CCDS12427.1	19	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955865	0.34471	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.48201	1.83;0.82	5.35	0.642	0.17765	.	0.433114	0.28889	N	0.013813	T	0.42471	0.1204	L	0.54323	1.7	0.26174	N	0.979827	D	0.69078	0.997	P	0.46885	0.53	T	0.38564	-0.9655	10	0.62326	D	0.03	9.6884	6.6557	0.22986	0.0:0.1318:0.249:0.6192	.	665	Q8IUC4	RHPN2_HUMAN	W	665;395;514	ENSP00000254260:R665W;ENSP00000402244:R514W	ENSP00000254260:R665W	R	-	1	2	RHPN2	38162810	0.015000	0.18098	0.037000	0.18230	0.193000	0.23685	0.876000	0.28092	-0.160000	0.11002	-0.503000	0.04515	CGG	RHPN2	-	NULL	ENSG00000131941		0.522	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	198	0.00	0	G	NM_033103		33470970	33470970	-1	no_errors	ENST00000254260	ensembl	human	known	69_37n	missense	135	46.85	119	SNP	0.319	A
RIN2	54453	genome.wustl.edu	37	20	19981587	19981587	+	3'UTR	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:19981587G>T	ENST00000255006.6	+	0	2991				RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CTAGAAGACAGGCGGGACTTC	0.542																																						dbGAP											0													39.0	40.0	39.0					20																	19981587		1965	4153	6118	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.*7G>T	20.37:g.19981587G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q00425|Q5TFT8|Q9BQL3|Q9H071	RNA	SNP	-	NULL	ENST00000255006.6	37	NULL	CCDS56182.1	20																																																																																			RIN2	-	-	ENSG00000132669		0.542	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1	51	0.00	0	G			19981587	19981587	+1	no_errors	ENST00000484638	ensembl	human	known	69_37n	rna	37	43.08	28	SNP	0.000	T
RIPK1	8737	genome.wustl.edu	37	6	3105946	3105946	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:3105946C>T	ENST00000259808.4	+	9	1535	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	RIPK1_ENST00000541791.1_Missense_Mutation_p.R367C|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.R413C			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	413	Interaction with SQSTM1.|Poly-Arg.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GGAAAGGAGACGCAGGGTCTC	0.507																																						dbGAP											0													65.0	68.0	67.0					6																	3105946		2203	4300	6503	-	-	-	SO:0001583	missense	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1237C>T	6.37:g.3105946C>T	ENSP00000259808:p.Arg413Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R413C	ENST00000259808.4	37	c.1237	CCDS4482.1	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976370	0.74360	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.78924	-1.22;-0.73;-1.22	5.6	5.6	0.85130	.	0.310850	0.30085	N	0.010456	D	0.83193	0.5201	M	0.66939	2.045	0.36268	D	0.854988	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.925	D	0.85797	0.1371	10	0.87932	D	0	-17.6795	13.1461	0.59463	0.2795:0.7205:0.0:0.0	.	367;413	Q13546-2;Q13546	.;RIPK1_HUMAN	C	413;367;413	ENSP00000259808:R413C;ENSP00000442294:R367C;ENSP00000369773:R413C	ENSP00000259808:R413C	R	+	1	0	RIPK1	3050945	0.999000	0.42202	0.999000	0.59377	0.996000	0.88848	1.987000	0.40687	2.641000	0.89580	0.655000	0.94253	CGC	RIPK1	-	NULL	ENSG00000137275		0.507	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	122	0.00	0	C	NM_003804		3105946	3105946	+1	no_errors	ENST00000259808	ensembl	human	known	69_37n	missense	97	33.56	49	SNP	0.801	T
RLN2	6019	genome.wustl.edu	37	9	5300144	5300144	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:5300144C>T	ENST00000381627.3	-	2	900	c.512G>A	c.(511-513)tGt>tAt	p.C171Y	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	171					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		AACATGGCAACATTTATTAGC	0.373																																						dbGAP											0													103.0	100.0	101.0					9																	5300144		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.512G>A	9.37:g.5300144C>T	ENSP00000371040:p.Cys171Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.C171Y	ENST00000381627.3	37	c.512	CCDS6460.1	9	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491021	0.44249	.	.	ENSG00000107014	ENST00000381627	D	0.98221	-4.8	3.39	3.39	0.38822	Insulin, conserved site (1);Insulin-like (4);	0.000000	0.64402	D	0.000004	D	0.98726	0.9572	M	0.84948	2.725	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98600	1.0658	10	0.87932	D	0	.	10.6087	0.45408	0.0:1.0:0.0:0.0	.	171	P04090	REL2_HUMAN	Y	171	ENSP00000371040:C171Y	ENSP00000371040:C171Y	C	-	2	0	RLN2	5290144	0.975000	0.34042	0.452000	0.26994	0.019000	0.09904	2.538000	0.45710	2.201000	0.70794	0.585000	0.79938	TGT	RLN2	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family	ENSG00000107014		0.373	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN2	HGNC	protein_coding	OTTHUMT00000051619.1	385	0.00	0	C	NM_134441		5300144	5300144	-1	no_errors	ENST00000381627	ensembl	human	known	69_37n	missense	201	35.99	113	SNP	0.521	T
RNF111	54778	genome.wustl.edu	37	15	59359165	59359165	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:59359165delC	ENST00000557998.1	+	6	1856	c.1569delC	c.(1567-1569)cacfs	p.H523fs	RNF111_ENST00000434298.1_Frame_Shift_Del_p.H523fs|RNF111_ENST00000559209.1_Frame_Shift_Del_p.H523fs|RNF111_ENST00000348370.4_Frame_Shift_Del_p.H523fs|RNF111_ENST00000561186.1_Frame_Shift_Del_p.H523fs	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	523	His-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ATACTCCCCACCCAGCTGTCC	0.488																																					NSCLC(72;983 1365 10746 34387 47081)	dbGAP											0													210.0	153.0	172.0					15																	59359165		2192	4291	6483	-	-	-	SO:0001589	frameshift_variant	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1569delC	15.37:g.59359165delC	ENSP00000452732:p.His523fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P524fs	ENST00000557998.1	37	c.1569	CCDS58366.1	15																																																																																			RNF111	-	NULL	ENSG00000157450		0.488	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	374	0.00	0	C	NM_017610		59359165	59359165	+1	no_errors	ENST00000434298	ensembl	human	known	69_37n	frame_shift_del	282	35.96	164	DEL	1.000	-
RNF111	54778	genome.wustl.edu	37	15	59384805	59384808	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:59384805_59384808delTGTT	ENST00000557998.1	+	13	3120_3123	c.2833_2836delTGTT	c.(2833-2838)tgtttgfs	p.CL945fs	RNF111_ENST00000434298.1_Frame_Shift_Del_p.CL954fs|RNF111_ENST00000348370.4_Frame_Shift_Del_p.CL937fs|RNF111_ENST00000561186.1_Frame_Shift_Del_p.CL954fs|RNF111_ENST00000559209.1_Frame_Shift_Del_p.CL946fs	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	945					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ATGTACTATCTGTTTGTCTATTTT	0.348																																					NSCLC(72;983 1365 10746 34387 47081)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2833_2836delTGTT	15.37:g.59384805_59384808delTGTT	ENSP00000452732:p.Cys945fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S956fs	ENST00000557998.1	37	c.2860_2863	CCDS58366.1	15																																																																																			RNF111	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000157450		0.348	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	114	0.00	0	TGTT	NM_017610		59384805	59384808	+1	no_errors	ENST00000434298	ensembl	human	known	69_37n	frame_shift_del	60	33.33	30	DEL	1.000:1.000:1.000:1.000	-
RNF144B	255488	genome.wustl.edu	37	6	18399809	18399809	+	Frame_Shift_Del	DEL	A	A	-	rs36005166	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:18399809delA	ENST00000259939.3	+	2	361	c.44delA	c.(43-45)gaafs	p.E15fs	RNF144B_ENST00000429054.2_Intron|snoU13_ENST00000459328.1_RNA|RNF144B_ENST00000486622.1_3'UTR	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	15					apoptotic process (GO:0006915)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			ATGACTGCTGAAAATCCCACT	0.542																																						dbGAP											0													94.0	89.0	90.0					6																	18399809		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK096832	CCDS34345.1	6p22.3	2011-05-23	2009-01-05	2007-08-20	ENSG00000137393	ENSG00000137393		"""RING-type (C3HC4) zinc fingers"""	21578	protein-coding gene	gene with protein product			"""IBR domain containing 2"""	IBRDC2			Standard	NM_182757		Approved	bA528A10.3	uc003ncs.3	Q7Z419	OTTHUMG00000014322	ENST00000259939.3:c.44delA	6.37:g.18399809delA	ENSP00000259939:p.Glu15fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUA8|B4DZI2|Q5TB85|Q6P4Q0|Q8N3R7|Q9BX38	Frame_Shift_Del	DEL	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC	p.N16fs	ENST00000259939.3	37	c.44	CCDS34345.1	6																																																																																			RNF144B	-	NULL	ENSG00000137393		0.542	RNF144B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF144B	HGNC	protein_coding	OTTHUMT00000039965.2	132	0.00	0	A	XM_172581		18399809	18399809	+1	no_errors	ENST00000259939	ensembl	human	known	69_37n	frame_shift_del	100	39.77	68	DEL	0.211	-
RNF213	57674	genome.wustl.edu	37	17	78346803	78346803	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:78346803G>A	ENST00000582970.1	+	49	12923	c.12780G>A	c.(12778-12780)ctG>ctA	p.L4260L	RNF213_ENST00000508628.2_Silent_p.L4309L|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.L2333L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4260					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGTGCTACCTGCAGCAAGTCA	0.582																																						dbGAP											0													81.0	77.0	78.0					17																	78346803		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12780G>A	17.37:g.78346803G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L4260	ENST00000582970.1	37	c.12780	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	17	0.00	0	G	NM_020914		78346803	78346803	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	silent	7	53.33	8	SNP	0.771	A
RNF32	140545	genome.wustl.edu	37	7	156469233	156469233	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:156469233G>A	ENST00000405335.1	+	10	1382	c.973G>A	c.(973-975)Gtg>Atg	p.V325M	RNF32_ENST00000392743.2_Missense_Mutation_p.V325M|RNF32_ENST00000343665.4_Missense_Mutation_p.V301M|RNF32_ENST00000317955.5_Missense_Mutation_p.V325M|RNF32_ENST00000311822.8_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.V325M|LMBR1_ENST00000430825.2_5'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	325						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTGCTCACATGTGTTCCACCA	0.627																																						dbGAP											0													79.0	65.0	70.0					7																	156469233		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.973G>A	7.37:g.156469233G>A	ENSP00000385285:p.Val325Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING	p.V325M	ENST00000405335.1	37	c.973	CCDS5944.1	7	.	.	.	.	.	.	.	.	.	.	G	6.106	0.387769	0.11581	.	.	ENSG00000105982	ENST00000432459;ENST00000317955;ENST00000405335;ENST00000392743;ENST00000343665	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	4.71	-2.48	0.06423	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.598207	0.18036	N	0.153777	T	0.29061	0.0722	L	0.37507	1.11	0.36241	D	0.853275	B	0.22983	0.078	B	0.27076	0.076	T	0.05370	-1.0889	10	0.45353	T	0.12	-1.4875	1.4093	0.02287	0.2618:0.1584:0.3675:0.2123	.	325	Q9H0A6	RNF32_HUMAN	M	325;325;325;325;301	ENSP00000405588:V325M;ENSP00000315950:V325M;ENSP00000385285:V325M;ENSP00000376499:V325M;ENSP00000341185:V301M	ENSP00000315950:V325M	V	+	1	0	RNF32	156161994	0.043000	0.20138	0.387000	0.26183	0.458000	0.32498	-0.107000	0.10873	-0.871000	0.04042	-1.119000	0.02030	GTG	RNF32	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000105982		0.627	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF32	HGNC	protein_coding	OTTHUMT00000322660.2	50	0.00	0	G	NM_030936		156469233	156469233	+1	no_errors	ENST00000317955	ensembl	human	known	69_37n	missense	20	53.49	23	SNP	0.421	A
RNF43	54894	genome.wustl.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											64.0	77.0	72.0					17																	56435161		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1976delG	17.37:g.56435161delC	ENSP00000463069:p.Gly659fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G659fs	ENST00000584437.1	37	c.1976	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	126	0.00	0	C	NM_017763		56435161	56435161	-1	no_errors	ENST00000407977	ensembl	human	known	69_37n	frame_shift_del	94	30.71	43	DEL	0.900	-
RNPEP	6051	genome.wustl.edu	37	1	201958658	201958658	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:201958658A>G	ENST00000295640.4	+	3	779	c.736A>G	c.(736-738)Agg>Ggg	p.R246G	RNPEP_ENST00000471105.1_Intron|RNPEP_ENST00000367286.3_Splice_Site_p.R246G	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	246					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		AGTTGGACCCAGGTAGGAGAC	0.552																																					GBM(19;39 479 7473 13131 19462)	dbGAP											0													92.0	88.0	89.0					1																	201958658		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.737+1A>G	1.37:g.201958658A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.R246G	ENST00000295640.4	37	c.736	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747565	0.69533	.	.	ENSG00000176393	ENST00000295640;ENST00000367286;ENST00000447312	T;T;T	0.05513	3.43;4.12;3.43	5.28	2.95	0.34219	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.055496	0.64402	D	0.000001	T	0.18173	0.0436	H	0.94582	3.555	0.33780	D	0.624162	B;B	0.24186	0.099;0.078	B;B	0.34180	0.177;0.172	T	0.08659	-1.0711	10	0.87932	D	0	-20.0218	8.7093	0.34374	0.8396:0.0:0.1604:0.0	.	254;246	Q7RU04;Q9H4A4	.;AMPB_HUMAN	G	246;246;115	ENSP00000295640:R246G;ENSP00000356255:R246G;ENSP00000389602:R115G	ENSP00000295640:R246G	R	+	1	2	RNPEP	200225281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.850000	0.48294	0.939000	0.37446	0.533000	0.62120	AGG	RNPEP	-	pfam_Peptidase_M1_N	ENSG00000176393		0.552	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1	111	0.00	0	A	NM_020216	Missense_Mutation	201958658	201958658	+1	no_errors	ENST00000295640	ensembl	human	known	69_37n	missense	163	27.75	63	SNP	1.000	G
RP1L1	94137	genome.wustl.edu	37	8	10467817	10467817	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:10467817G>A	ENST00000382483.3	-	4	4014	c.3791C>T	c.(3790-3792)gCc>gTc	p.A1264V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1264					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGCTCGGGCGTTCAAGAA	0.532																																						dbGAP											0													108.0	110.0	109.0					8																	10467817		2049	4184	6233	-	-	-	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3791C>T	8.37:g.10467817G>A	ENSP00000371923:p.Ala1264Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A1264V	ENST00000382483.3	37	c.3791	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613922	0.28712	.	.	ENSG00000183638	ENST00000382483	T	0.04275	3.66	3.94	0.742	0.18341	.	0.509170	0.14835	N	0.295637	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.42882	-0.9425	10	0.59425	D	0.04	-0.2303	2.0528	0.03574	0.1164:0.199:0.4804:0.2042	.	1264	A6NKC6	.	V	1264	ENSP00000371923:A1264V	ENSP00000371923:A1264V	A	-	2	0	RP1L1	10505227	0.751000	0.28327	0.000000	0.03702	0.001000	0.01503	2.452000	0.44961	0.389000	0.25086	0.561000	0.74099	GCC	RP1L1	-	NULL	ENSG00000183638		0.532	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	76	0.00	0	G			10467817	10467817	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	missense	42	40.85	29	SNP	0.001	A
RPA2	6118	genome.wustl.edu	37	1	28240899	28240901	+	Intron	DEL	CCT	CCT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:28240899_28240901delCCT	ENST00000373912.3	-	1	310				RPA2_ENST00000313433.7_In_Frame_Del_p.18_19GG>G|RPA2_ENST00000373909.3_Intron	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa						base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTAAAACCTCCTGCGATTC	0.631								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"""replication protein A2 (32kD)"""			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.10+43AGG>-	1.37:g.28240902_28240904delCCT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52II0|Q5TEI9|Q5TEJ5	In_Frame_Del	DEL	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like	p.G19in_frame_del	ENST00000373912.3	37	c.56_54	CCDS314.1	1																																																																																			RPA2	-	NULL	ENSG00000117748		0.631	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA2	HGNC	protein_coding	OTTHUMT00000011179.1	39	0.00	0	CCT	NM_002946		28240899	28240901	-1	no_errors	ENST00000313433	ensembl	human	known	69_37n	in_frame_del	41	39.71	27	DEL	0.000:0.000:0.000	-
RPAP1	26015	genome.wustl.edu	37	15	41819479	41819479	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:41819479C>T	ENST00000304330.4	-	13	1748	c.1632G>A	c.(1630-1632)ctG>ctA	p.L544L	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Silent_p.L544L	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	544						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCGAGGCAGCAGGCTGGTAG	0.622																																						dbGAP											0													35.0	39.0	38.0					15																	41819479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1632G>A	15.37:g.41819479C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.L544	ENST00000304330.4	37	c.1632	CCDS10079.1	15																																																																																			RPAP1	-	NULL	ENSG00000103932		0.622	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	54	0.00	0	C	NM_015540		41819479	41819479	-1	no_errors	ENST00000304330	ensembl	human	known	69_37n	silent	31	49.18	30	SNP	1.000	T
RPL22	6146	genome.wustl.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																	dbGAP		Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)											62.0	55.0	57.0					1																	6257785		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R495|Q6IBD1	Frame_Shift_Del	DEL	pfam_Ribosomal_L22e	p.K15fs	ENST00000234875.4	37	c.44	CCDS58.1	1																																																																																			RPL22	-	pfam_Ribosomal_L22e	ENSG00000116251		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL22	HGNC	protein_coding	OTTHUMT00000002830.1	92	0.00	0	T	NM_000983		6257785	6257785	-1	no_errors	ENST00000234875	ensembl	human	known	69_37n	frame_shift_del	59	37.11	36	DEL	1.000	-
RPS27L	51065	genome.wustl.edu	37	15	63448657	63448657	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:63448657G>T	ENST00000330964.5	-	2	466	c.70C>A	c.(70-72)Cta>Ata	p.L24I	RPS27L_ENST00000559763.1_5'Flank|RPS27L_ENST00000455271.1_5'UTR|RPS27L_ENST00000439025.1_Missense_Mutation_p.L24I|RPS27L_ENST00000411926.1_5'UTR|RPS27L_ENST00000462430.1_Missense_Mutation_p.L40I	NM_015920.3	NP_057004.1			ribosomal protein S27-like											large_intestine(1)	1						CTTTGTACTAGGCGTTTCTTT	0.299																																						dbGAP											0													117.0	100.0	105.0					15																	63448657		1802	4065	5867	-	-	-	SO:0001583	missense	0			BC003667	CCDS42048.1	15q21.3	2008-07-18			ENSG00000185088	ENSG00000185088		"""S ribosomal proteins"""	18476	protein-coding gene	gene with protein product		612055				11042152	Standard	NM_015920		Approved		uc002aly.3	Q71UM5	OTTHUMG00000155301	ENST00000330964.5:c.70C>A	15.37:g.63448657G>T	ENSP00000331019:p.Leu24Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd_dom	p.L24I	ENST00000330964.5	37	c.70	CCDS42048.1	15	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400145	0.62177	.	.	ENSG00000185088	ENST00000330964;ENST00000439025	.	.	.	5.56	4.65	0.58169	.	0.000000	0.64402	D	0.000003	T	0.61726	0.2370	.	.	.	0.51767	D	0.999937	P	0.43607	0.812	P	0.48166	0.569	T	0.65105	-0.6249	8	0.72032	D	0.01	.	10.6124	0.45429	0.1573:0.0:0.8427:0.0	.	24	Q71UM5	RS27L_HUMAN	I	24	.	ENSP00000331019:L24I	L	-	1	2	RPS27L	61235710	1.000000	0.71417	0.969000	0.41365	0.213000	0.24496	6.245000	0.72398	1.351000	0.45789	-0.137000	0.14449	CTA	RPS27L	-	NULL	ENSG00000185088		0.299	RPS27L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS27L	HGNC	protein_coding	OTTHUMT00000339347.1	92	0.00	0	G	NM_015920		63448657	63448657	-1	no_errors	ENST00000330964	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	0.987	T
RPS6	6194	genome.wustl.edu	37	9	19378446	19378446	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:19378446C>T	ENST00000380394.4	-	4	474	c.416G>A	c.(415-417)aGc>aAc	p.S139N	RPS6_ENST00000315377.4_Missense_Mutation_p.S108N|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000498815.1_5'Flank|RPS6_ENST00000380384.1_Missense_Mutation_p.S108N	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	139					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GCGGATTCTGCTAGCTCTTTT	0.418																																						dbGAP											0													71.0	71.0	71.0					9																	19378446		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.416G>A	9.37:g.19378446C>T	ENSP00000369757:p.Ser139Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP	pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk	p.S139N	ENST00000380394.4	37	c.416	CCDS6492.1	9	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672891	0.67928	.	.	ENSG00000137154	ENST00000380394;ENST00000380384;ENST00000315377	T;T;T	0.46451	0.87;0.87;0.87	5.32	5.32	0.75619	.	0.041345	0.85682	D	0.000000	T	0.45256	0.1333	L	0.58354	1.805	0.80722	D	1	B;B	0.24132	0.098;0.075	B;B	0.29942	0.109;0.071	T	0.30387	-0.9980	9	.	.	.	-17.1036	19.3561	0.94414	0.0:1.0:0.0:0.0	.	108;139	A2A3R5;P62753	.;RS6_HUMAN	N	139;108;108	ENSP00000369757:S139N;ENSP00000369745:S108N;ENSP00000369743:S108N	.	S	-	2	0	RPS6	19368446	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.705000	0.84606	2.646000	0.89796	0.655000	0.94253	AGC	RPS6	-	pirsf_Ribosomal_S6_euk	ENSG00000137154		0.418	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6	HGNC	protein_coding	OTTHUMT00000051858.1	113	0.00	0	C	NM_001010		19378446	19378446	-1	no_errors	ENST00000380394	ensembl	human	known	69_37n	missense	80	39.39	52	SNP	1.000	T
RPS6KA6	27330	genome.wustl.edu	37	X	83403063	83403063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:83403063delT	ENST00000262752.2	-	4	334	c.327delA	c.(325-327)aaafs	p.K109fs	RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.K109fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	109	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A110fs*3(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTAAAGAGGCTTTTTTTAACA	0.303																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											38.0	34.0	36.0					X																	83403063		2201	4295	6496	-	-	-	SO:0001589	frameshift_variant	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.327delA	X.37:g.83403063delT	ENSP00000262752:p.Lys109fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.A110fs	ENST00000262752.2	37	c.327	CCDS14451.1	X																																																																																			RPS6KA6	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000072133		0.303	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	190	0.00	0	T	NM_014496		83403063	83403063	-1	no_errors	ENST00000262752	ensembl	human	known	69_37n	frame_shift_del	92	35.86	52	DEL	0.992	-
RPS6KL1	83694	genome.wustl.edu	37	14	75376272	75376272	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:75376272G>A	ENST00000555647.1	-	8	1531	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.P384L|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.P415L|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.P415L|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	415	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CAGGTTCCCGGGGTGGAGGTC	0.667																																						dbGAP											0													22.0	26.0	25.0					14																	75376272		2198	4294	6492	-	-	-	SO:0001583	missense	0			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1244C>T	14.37:g.75376272G>A	ENSP00000452027:p.Pro415Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P415L	ENST00000555647.1	37	c.1244	CCDS9834.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.144080|4.144080	0.77888|0.77888	.|.	.|.	ENSG00000198208|ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328|ENST00000556848	T;T;T;T|T	0.15256|0.37584	2.44;2.44;2.44;2.44|1.19	4.5|4.5	4.5|4.5	0.54988|0.54988	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.52008|0.52008	0.1708|0.1708	M|M	0.67953|0.67953	2.075|2.075	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	T|T	0.50693|0.50693	-0.8798|-0.8798	10|7	0.66056|.	D|.	0.02|.	-23.2288|-23.2288	15.5871|15.5871	0.76491|0.76491	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	415;415;384|.	Q9Y6S9;B4DSP6;Q9Y6S9-2|.	RPKL1_HUMAN;.;.|.	L|S	415;384;415;415|34	ENSP00000452027:P415L;ENSP00000346644:P384L;ENSP00000450567:P415L;ENSP00000351086:P415L|ENSP00000451795:P34S	ENSP00000346644:P384L|.	P|P	-|-	2|1	0|0	RPS6KL1|RPS6KL1	74446025|74446025	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.794000|0.794000	0.44872|0.44872	6.422000|6.422000	0.73357|0.73357	2.350000|2.350000	0.79820|0.79820	0.462000|0.462000	0.41574|0.41574	CCC|CCG	RPS6KL1	-	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	ENSG00000198208		0.667	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	30	0.00	0	G			75376272	75376272	-1	no_errors	ENST00000358328	ensembl	human	known	69_37n	missense	5	64.29	9	SNP	0.997	A
RPS8	6202	genome.wustl.edu	37	1	45243097	45243097	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:45243097C>T	ENST00000396651.3	+	4	371				RPS8_ENST00000372209.3_Intron|SNORD38A_ENST00000365161.1_RNA|SNORD46_ENST00000364043.1_RNA|SNORD38B_ENST00000384690.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA|RPS8_ENST00000485390.1_Intron|SNORD55_ENST00000581525.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTAAAGACTGCGGGTTGCCAA	0.532																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.212-189C>T	1.37:g.45243097C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P09058|Q6IRL7	RNA	SNP	-	NULL	ENST00000396651.3	37	NULL	CCDS513.1	1																																																																																			RPS8	-	-	ENSG00000142937		0.532	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS8	HGNC	protein_coding	OTTHUMT00000023439.1	14	0.00	0	C	NM_001012		45243097	45243097	+1	no_errors	ENST00000464658	ensembl	human	known	69_37n	rna	8	42.86	6	SNP	0.001	T
RRP12	23223	genome.wustl.edu	37	10	99141181	99141181	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:99141181C>T	ENST00000370992.4	-	12	1491	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	RRP12_ENST00000536831.1_Silent_p.S178S|RRP12_ENST00000315563.6_Silent_p.S360S|RRP12_ENST00000414986.1_Silent_p.S399S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	460						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGCCTGAGGCCGAGGAGGTCA	0.557																																						dbGAP											0													77.0	59.0	65.0					10																	99141181		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1380G>A	10.37:g.99141181C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.S460	ENST00000370992.4	37	c.1380	CCDS7457.1	10																																																																																			RRP12	-	superfamily_ARM-type_fold	ENSG00000052749		0.557	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	19	0.00	0	C	NM_015179		99141181	99141181	-1	no_errors	ENST00000370992	ensembl	human	known	69_37n	silent	16	27.27	6	SNP	0.001	T
RSAD2	91543	genome.wustl.edu	37	2	7018229	7018229	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:7018229C>T	ENST00000382040.3	+	1	434	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	RSAD2_ENST00000541728.1_5'Flank	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ATCCTTTGTGCTGCCCCTTGA	0.507																																						dbGAP											0													104.0	93.0	97.0					2																	7018229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.298C>T	2.37:g.7018229C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_rSAM,smart_Elp3/MiaB/NifB	p.L100	ENST00000382040.3	37	c.298	CCDS1656.1	2																																																																																			RSAD2	-	pfam_rSAM,smart_Elp3/MiaB/NifB	ENSG00000134321		0.507	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD2	HGNC	protein_coding	OTTHUMT00000206724.2	85	0.00	0	C	NM_080657		7018229	7018229	+1	no_errors	ENST00000382040	ensembl	human	known	69_37n	silent	65	37.74	40	SNP	1.000	T
RSPH6A	81492	genome.wustl.edu	37	19	46308076	46308076	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:46308076G>A	ENST00000221538.3	-	3	1229	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	RSPH6A_ENST00000600188.1_Missense_Mutation_p.R99W|RSPH6A_ENST00000597055.1_Missense_Mutation_p.R363W	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	363	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcgccctccCGGAATTCCACC	0.637																																						dbGAP											0													72.0	60.0	64.0					19																	46308076		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1087C>T	19.37:g.46308076G>A	ENSP00000221538:p.Arg363Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.R363W	ENST00000221538.3	37	c.1087	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735091	0.69189	.	.	ENSG00000104941	ENST00000221538	T	0.18810	2.19	3.97	3.97	0.46021	.	0.122777	0.53938	D	0.000055	T	0.47563	0.1452	M	0.81802	2.56	0.40151	D	0.97695	D	0.89917	1.0	D	0.75484	0.986	T	0.54984	-0.8211	10	0.72032	D	0.01	-16.9434	14.3918	0.66983	0.0:0.0:1.0:0.0	.	363	Q9H0K4	RSH6A_HUMAN	W	363	ENSP00000221538:R363W	ENSP00000221538:R363W	R	-	1	2	RSPH6A	50999916	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.604000	0.61112	2.497000	0.84241	0.456000	0.33151	CGG	RSPH6A	-	pfam_Radial_spoke	ENSG00000104941		0.637	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	32	0.00	0	G			46308076	46308076	-1	no_errors	ENST00000221538	ensembl	human	known	69_37n	missense	35	40.00	24	SNP	1.000	A
RTP2	344892	genome.wustl.edu	37	3	187416724	187416724	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:187416724G>A	ENST00000358241.1	-	2	668	c.240C>T	c.(238-240)cgC>cgT	p.R80R		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	80					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCCGCTGGGCGCGGTCCAGGA	0.657																																						dbGAP											0													24.0	24.0	24.0					3																	187416724		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.240C>T	3.37:g.187416724G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NVH4	Silent	SNP	NULL	p.R80	ENST00000358241.1	37	c.240	CCDS33911.1	3																																																																																			RTP2	-	NULL	ENSG00000198471		0.657	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP2	HGNC	protein_coding	OTTHUMT00000344259.1	28	0.00	0	G	NM_001004312		187416724	187416724	-1	no_errors	ENST00000358241	ensembl	human	known	69_37n	silent	32	38.46	20	SNP	0.051	A
RUFY1	80230	genome.wustl.edu	37	5	178987110	178987111	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:178987110_178987111delTG	ENST00000319449.4	+	2	407_408	c.395_396delTG	c.(394-396)ctgfs	p.L132fs	RUFY1_ENST00000437570.2_Frame_Shift_Del_p.L24fs|RUFY1_ENST00000377001.2_Frame_Shift_Del_p.L132fs|RUFY1_ENST00000393438.2_Frame_Shift_Del_p.L24fs	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	132					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTCGGCTCTGAGCCTGGGCC	0.574										HNSCC(44;0.11)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.395_396delTG	5.37:g.178987110_178987111delTG	ENSP00000325594:p.Leu132fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FF3|Q71S93|Q9H6I3	Frame_Shift_Del	DEL	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING	p.L132fs	ENST00000319449.4	37	c.395_396	CCDS4445.2	5																																																																																			RUFY1	-	NULL	ENSG00000176783		0.574	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2	18	0.00	0	TG	NM_001040451		178987110	178987111	+1	no_errors	ENST00000319449	ensembl	human	known	69_37n	frame_shift_del	9	47.06	8	DEL	1.000:1.000	-
RUNX1	861	genome.wustl.edu	37	21	36206781	36206781	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:36206781G>A	ENST00000344691.4	-	4	2227	c.650C>T	c.(649-651)gCc>gTc	p.A217V	RUNX1_ENST00000325074.5_Missense_Mutation_p.A232V|RUNX1_ENST00000437180.1_Missense_Mutation_p.A244V|RUNX1_ENST00000358356.5_Missense_Mutation_p.A217V|RUNX1_ENST00000300305.3_Missense_Mutation_p.A244V|RUNX1_ENST00000399240.1_Intron	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	217	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.H242fs*14(2)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGCGTGGGGGCTGGGTGGTG	0.622			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)											117.0	119.0	118.0					21																	36206781		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.650C>T	21.37:g.36206781G>A	ENSP00000340690:p.Ala217Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.A244V	ENST00000344691.4	37	c.731	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	8.761	0.923560	0.18056	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399245;ENST00000358356;ENST00000399237	D;D;D;D;D;D	0.99245	-4.15;-4.16;-4.16;-4.15;-5.62;-5.57	4.97	4.97	0.65823	.	0.232386	0.36703	N	0.002451	D	0.97592	0.9211	L	0.44542	1.39	0.80722	D	1	B;B;B;B;P	0.45044	0.294;0.137;0.161;0.328;0.849	B;B;B;B;B	0.42163	0.057;0.063;0.116;0.079;0.378	D	0.99866	1.1089	10	0.05833	T	0.94	-20.5523	18.2514	0.90005	0.0:0.0:1.0:0.0	.	244;217;112;244;217	Q2TAM6;Q01196-3;Q01196-11;Q01196-8;Q01196	.;.;.;.;RUNX1_HUMAN	V	217;244;244;232;220;217;232	ENSP00000340690:A217V;ENSP00000300305:A244V;ENSP00000409227:A244V;ENSP00000319459:A232V;ENSP00000351123:A217V;ENSP00000382182:A232V	ENSP00000300305:A244V	A	-	2	0	RUNX1	35128651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.672000	0.54583	2.308000	0.77769	0.603000	0.83216	GCC	RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.622	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	75	0.00	0	G			36206781	36206781	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	missense	40	36.51	23	SNP	1.000	A
RUSC1	23623	genome.wustl.edu	37	1	155290711	155290712	+	5'Flank	DEL	TG	TG	-	rs562568962		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:155290711_155290712delTG	ENST00000368352.5	+	0	0				RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_5'UTR|RUSC1-AS1_ENST00000543656.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCTCCCGCTCTGTGCCCCGCCG	0.718																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910		1.37:g.155290713_155290714delTG	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	DEL	-	NULL	ENST00000368352.5	37	NULL	CCDS41410.1	1																																																																																			RUSC1-AS1	-	-	ENSG00000225855		0.718	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1-AS1	HGNC	protein_coding	OTTHUMT00000039071.1	25	0.00	0	TG			155290711	155290712	-1	no_errors	ENST00000450199	ensembl	human	known	69_37n	rna	61	23.75	19	DEL	0.005:0.006	-
RUSC1	23623	genome.wustl.edu	37	1	155294489	155294489	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:155294489G>A	ENST00000368352.5	+	3	1508				RUSC1_ENST00000292254.4_5'UTR|RUSC1_ENST00000462780.1_Intron|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368349.4_Intron|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368347.4_Intron	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAGCTACCCCGTGCTTCAGGC	0.682																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1358-147G>A	1.37:g.155294489G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	SNP	-	NULL	ENST00000368352.5	37	NULL	CCDS41410.1	1																																																																																			RUSC1	-	-	ENSG00000160753		0.682	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	45	0.00	0	G			155294489	155294489	+1	no_errors	ENST00000471876	ensembl	human	known	69_37n	rna	38	32.76	19	SNP	0.000	A
SAT1	6303	genome.wustl.edu	37	X	23802147	23802147	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:23802147delA	ENST00000379253.3	+	3	528	c.349delA	c.(349-351)aaafs	p.K119fs	SAT1_ENST00000379270.4_Intron|RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000489394.1_Intron|SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379251.3_Frame_Shift_Del_p.K149fs|Y_RNA_ENST00000365402.1_RNA			Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.N150fs*13(3)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10						ACTACTGAGGAAAAAAAAAAA	0.398																																						dbGAP											3	Deletion - Frameshift(3)	large_intestine(3)																																								-	-	-	SO:0001589	frameshift_variant	0			M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379253.3:c.349delA	X.37:g.23802147delA	ENSP00000368555:p.Lys119fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Del	DEL	superfamily_Acyl_CoA_acyltransferase	p.N150fs	ENST00000379253.3	37	c.439		X																																																																																			SAT1	-	NULL	ENSG00000130066		0.398	SAT1-003	KNOWN	basic	protein_coding	SAT1	HGNC	protein_coding	OTTHUMT00000056058.1	23	0.00	0	A	NM_002970		23802147	23802147	+1	no_errors	ENST00000379251	ensembl	human	known	69_37n	frame_shift_del	19	34.48	10	DEL	0.001	-
SATB1	6304	genome.wustl.edu	37	3	18436023	18436023	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:18436023T>C	ENST00000338745.6	-	7	2871	c.1137A>G	c.(1135-1137)gtA>gtG	p.V379V	SATB1_ENST00000417717.2_Silent_p.V379V|SATB1_ENST00000454909.2_Silent_p.V379V|SATB1_ENST00000475083.1_5'Flank|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	379					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTTCATCGCGTACCCACTGGT	0.483																																						dbGAP											0													191.0	178.0	182.0					3																	18436023		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1137A>G	3.37:g.18436023T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.V379	ENST00000338745.6	37	c.1137	CCDS2631.1	3																																																																																			SATB1	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000182568		0.483	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	254	0.00	0	T	NM_001131010		18436023	18436023	-1	no_errors	ENST00000338745	ensembl	human	known	69_37n	silent	131	38.21	81	SNP	0.979	C
SATB2	23314	genome.wustl.edu	37	2	200137064	200137064	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:200137064T>A	ENST00000417098.1	-	11	2888	c.2072A>T	c.(2071-2073)gAc>gTc	p.D691V	SATB2_ENST00000260926.5_Missense_Mutation_p.D691V|SATB2_ENST00000443023.1_Missense_Mutation_p.D632V|SATB2_ENST00000457245.1_Missense_Mutation_p.D691V|SATB2_ENST00000428695.1_Missense_Mutation_p.D573V	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	691					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGCTCCTCGTCCTTATATTC	0.552																																					Colon(30;262 767 11040 24421 36230)	dbGAP											0													139.0	127.0	131.0					2																	200137064		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2072A>T	2.37:g.200137064T>A	ENSP00000401112:p.Asp691Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D691V	ENST00000417098.1	37	c.2072	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746323	0.69418	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.53206	0.65;0.64;0.65;0.63;0.65	5.5	5.5	0.81552	.	0.054916	0.64402	D	0.000001	T	0.55081	0.1898	N	0.19112	0.55	0.80722	D	1	D;B	0.71674	0.998;0.421	D;B	0.76071	0.987;0.039	T	0.61549	-0.7040	10	0.87932	D	0	-27.2894	15.9017	0.79384	0.0:0.0:0.0:1.0	.	573;691	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	V	691;632;691;573;691	ENSP00000401112:D691V;ENSP00000388764:D632V;ENSP00000260926:D691V;ENSP00000388581:D573V;ENSP00000405420:D691V	ENSP00000260926:D691V	D	-	2	0	SATB2	199845309	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.199000	0.72112	2.213000	0.71641	0.528000	0.53228	GAC	SATB2	-	NULL	ENSG00000119042		0.552	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	242	0.00	0	T	NM_015265		200137064	200137064	-1	no_errors	ENST00000260926	ensembl	human	known	69_37n	missense	138	43.95	109	SNP	1.000	A
SCAF1	58506	genome.wustl.edu	37	19	50158042	50158042	+	Frame_Shift_Del	DEL	C	C	-	rs149487378		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:50158042delC	ENST00000360565.3	+	9	3657	c.3533delC	c.(3532-3534)accfs	p.T1178fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1178					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGCGGTTCGACCCCCCCCACC	0.692																																						dbGAP											0													24.0	27.0	26.0					19																	50158042		2199	4289	6488	-	-	-	SO:0001589	frameshift_variant	0			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3533delC	19.37:g.50158042delC	ENSP00000353769:p.Thr1178fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Del	DEL	NULL	p.T1181fs	ENST00000360565.3	37	c.3533	CCDS33074.1	19																																																																																			SCAF1	-	NULL	ENSG00000126461		0.692	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1	26	0.00	0	C	NM_021228		50158042	50158042	+1	no_errors	ENST00000360565	ensembl	human	known	69_37n	frame_shift_del	11	42.86	9	DEL	0.934	-
SCIN	85477	genome.wustl.edu	37	7	12668845	12668845	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:12668845G>A	ENST00000297029.5	+	9	1418	c.1317G>A	c.(1315-1317)acG>acA	p.T439T	SCIN_ENST00000445618.2_Silent_p.T192T|SCIN_ENST00000519209.1_Silent_p.T192T	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	439	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTATCTACACGTGGTGAGTTT	0.398																																						dbGAP											0													153.0	142.0	145.0					7																	12668845		1876	4122	5998	-	-	-	SO:0001819	synonymous_variant	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1317G>A	7.37:g.12668845G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.T439	ENST00000297029.5	37	c.1317	CCDS47545.1	7																																																																																			SCIN	-	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	ENSG00000006747		0.398	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	209	0.00	0	G	NM_033128		12668845	12668845	+1	no_errors	ENST00000297029	ensembl	human	known	69_37n	silent	81	38.64	51	SNP	0.000	A
SCN2A	6326	genome.wustl.edu	37	2	166165200	166165200	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:166165200delT	ENST00000375437.2	+	5	791	c.501delT	c.(499-501)actfs	p.T167fs	SCN2A_ENST00000283256.6_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.T167fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.T167fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	167					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATTTATACTTTTGAATCAC	0.308																																						dbGAP											0													72.0	78.0	76.0					2																	166165200		2197	4296	6493	-	-	-	SO:0001589	frameshift_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.501delT	2.37:g.166165200delT	ENSP00000364586:p.Thr167fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.F168fs	ENST00000375437.2	37	c.501	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.308	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	244	0.00	0	T	NM_021007		166165200	166165200	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	frame_shift_del	103	35.54	59	DEL	0.998	-
SCN2B	6327	genome.wustl.edu	37	11	118039306	118039306	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:118039306C>A	ENST00000278947.5	-	2	472	c.231G>T	c.(229-231)gaG>gaT	p.E77D		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	77	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TCACCATCTCCTCAGAGCAGT	0.622																																						dbGAP											0													147.0	142.0	143.0					11																	118039306		2200	4296	6496	-	-	-	SO:0001583	missense	0			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.231G>T	11.37:g.118039306C>A	ENSP00000278947:p.Glu77Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O75302|Q9UNN3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0	p.E77D	ENST00000278947.5	37	c.231	CCDS8390.1	11	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900265	0.52227	.	.	ENSG00000149575	ENST00000278947	T	0.68479	-0.33	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.114075	0.64402	D	0.000019	T	0.68146	0.2969	L	0.48986	1.54	0.51767	D	0.999935	D	0.57571	0.98	P	0.54924	0.764	T	0.63256	-0.6678	10	0.21540	T	0.41	-12.6423	11.0213	0.47720	0.0:0.9106:0.0:0.0894	.	77	O60939	SCN2B_HUMAN	D	77	ENSP00000278947:E77D	ENSP00000278947:E77D	E	-	3	2	SCN2B	117544516	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.183000	0.32041	2.486000	0.83907	0.655000	0.94253	GAG	SCN2B	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000149575		0.622	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN2B	HGNC	protein_coding	OTTHUMT00000109748.2	121	0.00	0	C	NM_004588		118039306	118039306	-1	no_errors	ENST00000278947	ensembl	human	known	69_37n	missense	91	41.67	65	SNP	1.000	A
SCN3A	6328	genome.wustl.edu	37	2	166003403	166003403	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:166003403C>A	ENST00000360093.3	-	12	2008	c.1517G>T	c.(1516-1518)aGa>aTa	p.R506I	RN7SL455P_ENST00000580629.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.R506I|SCN3A_ENST00000283254.7_Missense_Mutation_p.R506I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	506					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCTGTCTTCTTTTCTTCCT	0.438																																						dbGAP											0													218.0	214.0	215.0					2																	166003403		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1517G>T	2.37:g.166003403C>A	ENSP00000353206:p.Arg506Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R506I	ENST00000360093.3	37	c.1517		2	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930901	0.73327	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.67	4.79	0.61399	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000005	D	0.92378	0.7581	M	0.86343	2.81	0.80722	D	1	P;P;P;P;P	0.36789	0.57;0.57;0.514;0.514;0.514	B;B;B;B;B	0.39805	0.31;0.31;0.206;0.206;0.206	D	0.93013	0.6433	10	0.87932	D	0	.	15.0034	0.71492	0.0:0.93:0.0:0.07	.	506;506;506;506;506	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	506	ENSP00000353206:R506I;ENSP00000283254:R506I;ENSP00000386726:R506I;ENSP00000403348:R506I	ENSP00000283254:R506I	R	-	2	0	SCN3A	165711649	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.445000	0.80570	1.508000	0.48769	0.655000	0.94253	AGA	SCN3A	-	pfam_DUF3451	ENSG00000153253		0.438	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		430	0.00	0	C	NM_006922		166003403	166003403	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	missense	262	36.71	152	SNP	1.000	A
SCN3A	6328	genome.wustl.edu	37	2	166020198	166020198	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:166020198G>A	ENST00000360093.3	-	7	1186				SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Silent_p.D208D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit						membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATTGCCCAGGTCCACAAACT	0.443																																						dbGAP											0													95.0	90.0	92.0					2																	166020198		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.694+113C>T	2.37:g.166020198G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D208	ENST00000360093.3	37	c.624		2																																																																																			SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		94	0.00	0	G	NM_006922		166020198	166020198	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	silent	44	37.14	26	SNP	1.000	A
SCN7A	6332	genome.wustl.edu	37	2	167327218	167327218	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:167327218T>C	ENST00000409855.1	-	6	699		c.e6-2			NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATAATAACCCTGTGGAATTAA	0.289																																						dbGAP											0													32.0	32.0	32.0					2																	167327218		1793	4046	5839	-	-	-	SO:0001630	splice_region_variant	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.573-2A>G	2.37:g.167327218T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e5-2	ENST00000409855.1	37	c.573-2	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	T	14.56	2.572557	0.45798	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2787	0.60202	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN7A	167035464	1.000000	0.71417	0.839000	0.33178	0.148000	0.21650	5.837000	0.69381	2.071000	0.62044	0.460000	0.39030	.	SCN7A	-	-	ENSG00000136546		0.289	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	65	0.00	0	T		Intron	167327218	167327218	-1	no_errors	ENST00000409855	ensembl	human	known	69_37n	splice_site	35	44.44	28	SNP	1.000	C
SCRN2	90507	genome.wustl.edu	37	17	45917622	45917622	+	Silent	SNP	G	G	A	rs374764950		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:45917622G>A	ENST00000290216.9	-	3	416	c.291C>T	c.(289-291)aaC>aaT	p.N97N	SCRN2_ENST00000584123.1_Silent_p.N105N|SCRN2_ENST00000407215.3_Silent_p.N97N	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	97						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						ACACAGCCTCGTTGCCAATGC	0.607																																						dbGAP											0													125.0	99.0	108.0					17																	45917622		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.291C>T	17.37:g.45917622G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.N97	ENST00000290216.9	37	c.291	CCDS11519.1	17																																																																																			SCRN2	-	pfam_Peptidase_C69,pfam_Pept_C45_AAT	ENSG00000141295		0.607	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	51	0.00	0	G	NM_138355		45917622	45917622	-1	no_errors	ENST00000290216	ensembl	human	known	69_37n	silent	34	46.03	29	SNP	0.990	A
SDCBP2	27111	genome.wustl.edu	37	20	1293001	1293001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:1293001G>A	ENST00000360779.3	-	7	885	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	SDCBP2_ENST00000381808.3_Nonsense_Mutation_p.Q153*|SDCBP2_ENST00000381812.1_Nonsense_Mutation_p.Q238*|SDCBP2_ENST00000339987.3_Nonsense_Mutation_p.Q238*|SDCBP2_ENST00000467129.1_5'Flank	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	238	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						ATAACATTCTGCCCGTCCACC	0.607																																						dbGAP											0													58.0	49.0	52.0					20																	1293001		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.712C>T	20.37:g.1293001G>A	ENSP00000354013:p.Gln238*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q238*	ENST00000360779.3	37	c.712	CCDS42848.1	20	.	.	.	.	.	.	.	.	.	.	g	37	6.140650	0.97320	.	.	ENSG00000125775	ENST00000381812;ENST00000381808;ENST00000360779;ENST00000339987	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-8.7914	17.4325	0.87543	0.0:0.0:1.0:0.0	.	.	.	.	X	238;153;238;238	.	ENSP00000342935:Q238X	Q	-	1	0	SDCBP2	1241001	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.504000	0.97986	2.417000	0.82017	0.561000	0.74099	CAG	SDCBP2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000125775		0.607	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCBP2	HGNC	protein_coding	OTTHUMT00000077513.2	12	0.00	0	G	NM_080489		1293001	1293001	-1	no_errors	ENST00000339987	ensembl	human	known	69_37n	nonsense	9	30.77	4	SNP	1.000	A
SDC4	6385	genome.wustl.edu	37	20	43964440	43964440	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:43964440A>T	ENST00000372733.3	-	2	220	c.181T>A	c.(181-183)Tct>Act	p.S61T	SDC4_ENST00000537976.1_Intron	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	61					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CCAGAGCCAGACAGCTCAAAG	0.607			T	ROS1	NSCLC																																	dbGAP		Dom	yes		20	20q12	6385	syndecan 4		E	0													85.0	74.0	78.0					20																	43964440		2203	4300	6503	-	-	-	SO:0001583	missense	0			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.181T>A	20.37:g.43964440A>T	ENSP00000361818:p.Ser61Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	pfam_Syndecan,smart_Neurexin-like	p.S61T	ENST00000372733.3	37	c.181	CCDS13350.1	20	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193011	0.58017	.	.	ENSG00000124145	ENST00000372733	T	0.39997	1.05	4.86	4.86	0.63082	.	0.125924	0.56097	D	0.000037	T	0.58552	0.2130	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.57734	-0.7760	10	0.12430	T	0.62	-16.1861	11.1199	0.48284	1.0:0.0:0.0:0.0	.	61	P31431	SDC4_HUMAN	T	61	ENSP00000361818:S61T	ENSP00000361818:S61T	S	-	1	0	SDC4	43397854	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	4.799000	0.62517	1.953000	0.56701	0.459000	0.35465	TCT	SDC4	-	NULL	ENSG00000124145		0.607	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC4	HGNC	protein_coding	OTTHUMT00000080515.1	58	0.00	0	A	NM_002999		43964440	43964440	-1	no_errors	ENST00000372733	ensembl	human	known	69_37n	missense	42	30.00	18	SNP	1.000	T
SDCCAG8	10806	genome.wustl.edu	37	1	243419406	243419406	+	5'UTR	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:243419406G>T	ENST00000366541.3	+	0	49				CEP170_ENST00000366543.1_5'Flank|SDCCAG8_ENST00000391846.1_5'UTR|CEP170_ENST00000366542.1_5'Flank|SDCCAG8_ENST00000343783.6_5'UTR|SDCCAG8_ENST00000355875.4_5'UTR|CEP170_ENST00000366544.1_5'Flank	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CCACAGGCCTGTTGTTCTCGG	0.642																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.-70G>T	1.37:g.243419406G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	RNA	SNP	-	NULL	ENST00000366541.3	37	NULL	CCDS31075.1	1																																																																																			SDCCAG8	-	-	ENSG00000054282		0.642	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	15	0.00	0	G	NM_006642		243419406	243419406	+1	no_errors	ENST00000490065	ensembl	human	known	69_37n	rna	16	36.00	9	SNP	0.847	T
SEC14L3	266629	genome.wustl.edu	37	22	30867944	30867944	+	Start_Codon_SNP	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:30867944A>G	ENST00000215812.4	-	1	92	c.2T>C	c.(1-3)aTg>aCg	p.M1T	SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000415957.2_5'Flank|SEC14L3_ENST00000540910.1_5'Flank	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	1						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCGGCCGCTCATGGTGCTGGC	0.632																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	dbGAP											0													48.0	46.0	47.0					22																	30867944		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.2T>C	22.37:g.30867944A>G	ENSP00000215812:p.Met1Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.M1T	ENST00000215812.4	37	c.2	CCDS13877.1	22	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458617	0.63401	.	.	ENSG00000100012	ENST00000215812	T	0.75050	-0.9	5.94	5.94	0.96194	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84880	0.5570	.	.	.	0.80722	D	1	D	0.62365	0.991	D	0.63793	0.918	D	0.86779	0.1978	9	0.87932	D	0	-35.7895	13.9211	0.63933	1.0:0.0:0.0:0.0	.	1	Q9UDX4	S14L3_HUMAN	T	1	ENSP00000215812:M1T	ENSP00000215812:M1T	M	-	2	0	SEC14L3	29197944	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	7.438000	0.80431	2.279000	0.76181	0.459000	0.35465	ATG	SEC14L3	-	superfamily_CRAL/TRIO_N_dom	ENSG00000100012		0.632	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L3	HGNC	protein_coding	OTTHUMT00000321950.4	45	0.00	0	A	NM_174975	Missense_Mutation	30867944	30867944	-1	no_errors	ENST00000215812	ensembl	human	known	69_37n	missense	25	60.94	39	SNP	1.000	G
SEC24A	10802	genome.wustl.edu	37	5	134029512	134029512	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:134029512G>T	ENST00000398844.2	+	13	2163	c.1875G>T	c.(1873-1875)aaG>aaT	p.K625N		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	625					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)			CTGCCTTTAAGCTGATGTCTC	0.498																																						dbGAP											0													95.0	94.0	94.0					5																	134029512		1931	4135	6066	-	-	-	SO:0001583	missense	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.1875G>T	5.37:g.134029512G>T	ENSP00000381823:p.Lys625Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.K625N	ENST00000398844.2	37	c.1875	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373180	0.61624	.	.	ENSG00000113615	ENST00000398844	T	0.74947	-0.89	5.35	4.48	0.54585	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.81861	0.4912	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.81486	-0.0911	10	0.51188	T	0.08	-14.5951	8.1974	0.31405	0.1811:0.0:0.8189:0.0	.	389;625	B4E205;O95486	.;SC24A_HUMAN	N	625	ENSP00000381823:K625N	ENSP00000381823:K625N	K	+	3	2	SEC24A	134057411	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.480000	0.53172	2.521000	0.84997	0.462000	0.41574	AAG	SEC24A	-	pfam_Sec23/24_trunk_dom	ENSG00000113615		0.498	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	94	0.00	0	G			134029512	134029512	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	missense	109	27.33	41	SNP	1.000	T
SEC31A	22872	genome.wustl.edu	37	4	83740277	83740277	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:83740277T>C	ENST00000395310.2	-	27	3795	c.3613A>G	c.(3613-3615)Atg>Gtg	p.M1205V	SEC31A_ENST00000505984.1_Missense_Mutation_p.M1151V|SEC31A_ENST00000326950.5_Missense_Mutation_p.M1166V|SEC31A_ENST00000508502.1_Missense_Mutation_p.M1190V|SEC31A_ENST00000500777.2_Missense_Mutation_p.M1052V|SEC31A_ENST00000355196.2_Missense_Mutation_p.M1205V|SEC31A_ENST00000432794.1_Missense_Mutation_p.M1218V|SEC31A_ENST00000311785.7_Missense_Mutation_p.M1091V|SEC31A_ENST00000505472.1_Missense_Mutation_p.M1236V|SEC31A_ENST00000509142.1_Missense_Mutation_p.M1091V|SEC31A_ENST00000448323.1_Missense_Mutation_p.M1205V|SEC31A_ENST00000513858.1_Missense_Mutation_p.M1052V|SEC31A_ENST00000443462.2_Missense_Mutation_p.M1185V|SEC31A_ENST00000264405.5_Missense_Mutation_p.M954V|SEC31A_ENST00000348405.4_Missense_Mutation_p.M1166V	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1205					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AGAACTGGCATGAAAGCAGAG	0.438																																						dbGAP											0													166.0	151.0	156.0					4																	83740277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3613A>G	4.37:g.83740277T>C	ENSP00000378721:p.Met1205Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M1218V	ENST00000395310.2	37	c.3652	CCDS3596.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.61|16.61	3.172083|3.172083	0.57584|0.57584	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000515062|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.55930	.|0.66;0.81;1.87;1.8;0.88;1.77;1.87;0.66;0.88;0.49;0.81;1.79;1.87;2.36;1.6	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.095163	.|0.85682	.|D	.|0.000000	T|T	0.74253|0.74253	0.3692|0.3692	M|M	0.81112|0.81112	2.525|2.525	0.49915|0.49915	D|D	0.99983|0.99983	.|P;P;D;P;D;P;D;P;D	.|0.58268	.|0.909;0.865;0.982;0.923;0.982;0.945;0.98;0.589;0.979	.|D;P;D;P;D;D;D;B;D	.|0.73708	.|0.91;0.824;0.961;0.652;0.961;0.959;0.958;0.439;0.981	T|T	0.78132|0.78132	-0.2323|-0.2323	5|10	.|0.87932	.|D	.|0	-16.7024|-16.7024	16.0977|16.0977	0.81139|0.81139	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1185;1151;1052;1166;1091;1190;1205;954;1218	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	R|V	165|1166;1052;1205;1185;1091;1218;1205;1166;1091;1236;1052;1190;1205;954;1151	.|ENSP00000337602:M1166V;ENSP00000426886:M1052V;ENSP00000378721:M1205V;ENSP00000408027:M1185V;ENSP00000426569:M1091V;ENSP00000407944:M1218V;ENSP00000400926:M1205V;ENSP00000325087:M1166V;ENSP00000309070:M1091V;ENSP00000421633:M1236V;ENSP00000421464:M1052V;ENSP00000424635:M1190V;ENSP00000347329:M1205V;ENSP00000264405:M954V;ENSP00000424451:M1151V	.|ENSP00000264405:M954V	H|M	-|-	2|1	0|0	SEC31A|SEC31A	83959301|83959301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.179000|0.179000	0.23085|0.23085	7.982000|7.982000	0.88131|0.88131	2.216000|2.216000	0.71823|0.71823	0.528000|0.528000	0.53228|0.53228	CAT|ATG	SEC31A	-	NULL	ENSG00000138674		0.438	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	137	0.00	0	T	NM_016211		83740277	83740277	-1	no_errors	ENST00000432794	ensembl	human	known	69_37n	missense	78	42.65	58	SNP	1.000	C
SEC61A2	55176	genome.wustl.edu	37	10	12195758	12195758	+	Intron	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:12195758T>C	ENST00000298428.9	+	7	551				SEC61A2_ENST00000495368.1_Intron|SEC61A2_ENST00000379051.1_Intron|SEC61A2_ENST00000379017.3_Missense_Mutation_p.C162R|SEC61A2_ENST00000379033.3_Intron|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000304267.8_Intron	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ATTGAAAATATGTGGATACAC	0.388																																						dbGAP											0													55.0	52.0	53.0					10																	12195758		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.463-2019T>C	10.37:g.12195758T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	pfam_Translocon_Sec61/SecY_plug_dom,pfam_SecY,superfamily_SecY_su_dom	p.C162R	ENST00000298428.9	37	c.484	CCDS7088.1	10	.	.	.	.	.	.	.	.	.	.	T	6.299	0.423256	0.11928	.	.	ENSG00000065665	ENST00000379017	.	.	.	3.41	3.41	0.39046	.	.	.	.	.	T	0.63522	0.2518	.	.	.	0.38506	D	0.948347	.	.	.	.	.	.	T	0.69018	-0.5256	5	0.87932	D	0	.	8.5509	0.33451	0.0:0.0:0.0:1.0	.	.	.	.	R	162	.	ENSP00000368302:C162R	C	+	1	0	SEC61A2	12235764	0.004000	0.15560	0.255000	0.24374	0.246000	0.25737	0.150000	0.16263	1.791000	0.52520	0.260000	0.18958	TGT	SEC61A2	-	NULL	ENSG00000065665		0.388	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046795.1	87	0.00	0	T	NM_018144		12195758	12195758	+1	no_errors	ENST00000379017	ensembl	human	known	69_37n	missense	38	50.00	38	SNP	0.343	C
SEC62	7095	genome.wustl.edu	37	3	169700664	169700664	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:169700664delA	ENST00000337002.4	+	4	479	c.421delA	c.(421-423)aaafs	p.K143fs	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Frame_Shift_Del_p.K143fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	143					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						agaaaaagagaaaaaaaaaga	0.279																																						dbGAP											0										33,3881		3,27,1927	19.0	21.0	20.0			1.1	1.0	3		20	37,7991		1,35,3978	no	frameshift	SEC62	NM_003262.3		4,62,5905	A1A1,A1R,RR		0.4609,0.8431,0.5862			169700664	70,11872	2066	4220	6286	-	-	-	SO:0001589	frameshift_variant	0			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.421delA	3.37:g.169700664delA	ENSP00000337688:p.Lys143fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNQ0|O00682|O00729	Frame_Shift_Del	DEL	pfam_Sec62,superfamily_ABC_transptrTM_dom_typ1	p.D144fs	ENST00000337002.4	37	c.421	CCDS3210.1	3																																																																																			SEC62	-	pfam_Sec62,superfamily_ABC_transptrTM_dom_typ1	ENSG00000008952		0.279	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC62	HGNC	protein_coding	OTTHUMT00000352043.1	160	0.62	1	A			169700664	169700664	+1	no_errors	ENST00000337002	ensembl	human	known	69_37n	frame_shift_del	68	34.29	36	DEL	1.000	-
SECISBP2L	9728	genome.wustl.edu	37	15	49308784	49308784	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:49308784T>A	ENST00000559471.1	-	11	1797	c.1534A>T	c.(1534-1536)Act>Tct	p.T512S	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T467S	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	512							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGGTGTTAGTAATTTGCCGT	0.378																																						dbGAP											0													195.0	176.0	182.0					15																	49308784		2197	4295	6492	-	-	-	SO:0001583	missense	0			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1534A>T	15.37:g.49308784T>A	ENSP00000453854:p.Thr512Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N767	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.T512S	ENST00000559471.1	37	c.1534	CCDS53942.1	15	.	.	.	.	.	.	.	.	.	.	T	16.36	3.101326	0.56183	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72051	-0.62	5.49	4.34	0.51931	.	0.145304	0.64402	D	0.000007	T	0.61702	0.2368	L	0.44542	1.39	0.37452	D	0.914858	B;B	0.29988	0.172;0.264	B;B	0.27715	0.025;0.082	T	0.63782	-0.6559	10	0.46703	T	0.11	.	11.9028	0.52692	0.1308:0.0:0.0:0.8692	.	512;467	Q93073;Q93073-2	SBP2L_HUMAN;.	S	467;512	ENSP00000261847:T467S	ENSP00000261847:T467S	T	-	1	0	SECISBP2L	47096076	1.000000	0.71417	0.824000	0.32777	0.949000	0.60115	5.434000	0.66526	0.988000	0.38734	0.528000	0.53228	ACT	SECISBP2L	-	NULL	ENSG00000138593		0.378	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	HGNC	protein_coding	OTTHUMT00000417277.1	185	0.00	0	T	NM_014701		49308784	49308784	-1	no_errors	ENST00000559471	ensembl	human	known	69_37n	missense	123	41.43	87	SNP	1.000	A
SEH1L	81929	genome.wustl.edu	37	18	12955467	12955467	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:12955467T>C	ENST00000262124.11	+	3	295	c.168T>C	c.(166-168)caT>caC	p.H56H	SEH1L_ENST00000399892.2_Silent_p.H56H	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	56					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.H56H(2)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGACACATAGTGGATCTG	0.398																																						dbGAP											2	Substitution - coding silent(2)	prostate(1)|central_nervous_system(1)											150.0	135.0	140.0					18																	12955467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.168T>C	18.37:g.12955467T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5B1|Q8NFU6|Q96MH3|Q9C069	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H56	ENST00000262124.11	37	c.168	CCDS45832.1	18																																																																																			SEH1L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085415		0.398	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	HGNC	protein_coding	OTTHUMT00000458254.1	101	0.98	1	T	NM_031216		12955467	12955467	+1	no_errors	ENST00000399892	ensembl	human	known	69_37n	silent	50	16.67	10	SNP	0.994	C
SEMA4D	10507	genome.wustl.edu	37	9	92006248	92006250	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:92006248_92006250delGAA	ENST00000450295.1	-	9	1479_1481	c.703_705delTTC	c.(703-705)ttcdel	p.F235del	SEMA4D_ENST00000455551.2_In_Frame_Del_p.F235del|SEMA4D_ENST00000343780.4_In_Frame_Del_p.F235del|SEMA4D_ENST00000438547.2_In_Frame_Del_p.F235del|SEMA4D_ENST00000422704.2_In_Frame_Del_p.F235del|SEMA4D_ENST00000420987.1_In_Frame_Del_p.F235del|SEMA4D_ENST00000356444.2_In_Frame_Del_p.F235del|SEMA4D_ENST00000339861.4_In_Frame_Del_p.F235del			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	235	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ACACCTCCGTGAAGAAGAAGTAG	0.552																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.703_705delTTC	9.37:g.92006254_92006256delGAA	ENSP00000416523:p.Phe235del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPM6|Q7Z5S4|Q8N8B0	In_Frame_Del	DEL	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.F235in_frame_del	ENST00000450295.1	37	c.705_703	CCDS6685.1	9																																																																																			SEMA4D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000187764		0.552	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	76	0.00	0	GAA	NM_006378		92006248	92006250	-1	no_errors	ENST00000356444	ensembl	human	known	69_37n	in_frame_del	54	32.14	27	DEL	1.000:1.000:1.000	-
SEMA6D	80031	genome.wustl.edu	37	15	48059295	48059296	+	Intron	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:48059295_48059296insT	ENST00000316364.5	+	17	2204				SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000389433.2_Intron|SEMA6D_ENST00000536845.2_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000358066.4_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CATCTGGTTAGTTTTTTTTAAT	0.351																																						dbGAP											0									,,,,,	2,4258		0,2,2128					,,,,,	5.4	1.0			51	16,8234		0,16,4109	no	intron,intron,intron,intron,intron,intron	SEMA6D	NM_153619.1,NM_153618.1,NM_153617.1,NM_153616.1,NM_020858.1,NM_001198999.1	,,,,,	0,18,6237	A1A1,A1R,RR		0.1939,0.0469,0.1439	,,,,,	,,,,,		18,12492				-	-	-	SO:0001627	intron_variant	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1765+5->T	15.37:g.48059303_48059303dupT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Frame_Shift_Ins	INS	NULL	p.L55fs	ENST00000316364.5	37	c.163_164	CCDS32225.1	15																																																																																			SEMA6D	-	NULL	ENSG00000137872		0.351	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	188	0.00	0	-	NM_024966		48059295	48059296	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559064	ensembl	human	putative	69_37n	frame_shift_ins	112	35.63	62	INS	1.000:1.000	T
SEPT8	23176	genome.wustl.edu	37	5	132101194	132101194	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:132101194A>G	ENST00000378719.2	-	2	295	c.58T>C	c.(58-60)Tcc>Ccc	p.S20P	SEPT8_ENST00000378699.2_5'UTR|SEPT8_ENST00000448933.1_5'UTR|SEPT8_ENST00000378701.1_Missense_Mutation_p.S20P|SEPT8_ENST00000296873.7_Missense_Mutation_p.S20P|SEPT8_ENST00000378721.4_Missense_Mutation_p.S20P|SEPT8_ENST00000458488.2_Missense_Mutation_p.S20P|SEPT8_ENST00000378706.1_Missense_Mutation_p.S20P	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	20					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGCCCAGGGAGAGGCTCCGG	0.592																																						dbGAP											0													97.0	113.0	108.0					5																	132101194		2042	4215	6257	-	-	-	SO:0001583	missense	0			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.58T>C	5.37:g.132101194A>G	ENSP00000367991:p.Ser20Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.S20P	ENST00000378719.2	37	c.58	CCDS43358.1	5	.	.	.	.	.	.	.	.	.	.	A	9.080	0.999036	0.19121	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000378706;ENST00000378701;ENST00000458488	T;T;T;T;T;T	0.53423	0.62;0.63;0.63;0.63;0.64;0.63	5.66	4.39	0.52855	.	0.617908	0.17594	N	0.168651	T	0.27349	0.0671	N	0.19112	0.55	0.25085	N	0.990891	B;P;B;P	0.48998	0.215;0.918;0.003;0.814	B;B;B;B	0.38106	0.094;0.265;0.003;0.265	T	0.06826	-1.0805	10	0.24483	T	0.36	.	8.4754	0.33009	0.6801:0.2029:0.0:0.117	.	20;20;20;20	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	P	20	ENSP00000367991:S20P;ENSP00000367993:S20P;ENSP00000296873:S20P;ENSP00000367978:S20P;ENSP00000367973:S20P;ENSP00000394766:S20P	ENSP00000296873:S20P	S	-	1	0	SEPT8	132129093	0.071000	0.21146	1.000000	0.80357	0.996000	0.88848	1.319000	0.33655	2.158000	0.67659	0.383000	0.25322	TCC	SEPT8	-	pirsf_Septin	ENSG00000164402		0.592	SEPT8-002	KNOWN	basic|CCDS	protein_coding	SEPT8	HGNC	protein_coding	OTTHUMT00000132827.2	180	0.55	1	A	XM_034872		132101194	132101194	-1	no_errors	ENST00000378719	ensembl	human	known	69_37n	missense	239	26.15	85	SNP	0.367	G
SERPINC1	462	genome.wustl.edu	37	1	173884179	173884179	+	Intron	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:173884179A>G	ENST00000367698.3	-	2	160				SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1						blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GAGAAAGGCTAAATCCTTTGA	0.552																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.42-122T>C	1.37:g.173884179A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	RNA	SNP	-	NULL	ENST00000367698.3	37	NULL	CCDS1313.1	1																																																																																			SERPINC1	-	-	ENSG00000117601		0.552	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINC1	HGNC	protein_coding	OTTHUMT00000090734.1	28	0.00	0	A	NM_000488		173884179	173884179	-1	no_errors	ENST00000494024	ensembl	human	known	69_37n	rna	24	38.46	15	SNP	0.000	G
SETD1A	9739	genome.wustl.edu	37	16	30976317	30976317	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:30976317C>T	ENST00000262519.8	+	7	1940	c.1254C>T	c.(1252-1254)agC>agT	p.S418S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	418	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCGAGCCCAGCCGGCCCACCG	0.692																																						dbGAP											0													34.0	43.0	40.0					16																	30976317		2196	4300	6496	-	-	-	SO:0001819	synonymous_variant	0			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1254C>T	16.37:g.30976317C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S418	ENST00000262519.8	37	c.1254	CCDS32435.1	16																																																																																			SETD1A	-	NULL	ENSG00000099381		0.692	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	73	0.00	0	C	NM_014712		30976317	30976317	+1	no_errors	ENST00000262519	ensembl	human	known	69_37n	silent	91	32.61	45	SNP	0.935	T
SETD8	387893	genome.wustl.edu	37	12	123892171	123892171	+	Missense_Mutation	SNP	C	C	T	rs553535516		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:123892171C>T	ENST00000402868.3	+	8	1406	c.980C>T	c.(979-981)gCg>gTg	p.A327V	SETD8_ENST00000330479.4_Missense_Mutation_p.A327V			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	368	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CGAGACATCGCGGCTGGGGAG	0.592																																						dbGAP											0													62.0	49.0	54.0					12																	123892171		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.980C>T	12.37:g.123892171C>T	ENSP00000384629:p.Ala327Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.A327V	ENST00000402868.3	37	c.980	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145555	0.37923	.	.	ENSG00000183955	ENST00000402868;ENST00000330479	D;D	0.82344	-1.6;-1.6	5.12	-4.27	0.03744	SET domain (3);	0.748306	0.13153	N	0.409696	T	0.72946	0.3524	L	0.48260	1.515	0.27242	N	0.959123	P;B	0.47106	0.89;0.146	B;B	0.35182	0.197;0.021	T	0.64824	-0.6316	10	0.30854	T	0.27	-2.4788	17.6206	0.88080	0.4213:0.5787:0.0:0.0	.	368;327	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	V	327	ENSP00000384629:A327V;ENSP00000332995:A327V	ENSP00000332995:A327V	A	+	2	0	SETD8	122458124	1.000000	0.71417	0.227000	0.23927	0.914000	0.54420	2.895000	0.48648	-0.812000	0.04363	-0.262000	0.10625	GCG	SETD8	-	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	ENSG00000183955		0.592	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	55	0.00	0	C	NM_020382		123892171	123892171	+1	no_errors	ENST00000330479	ensembl	human	known	69_37n	missense	8	70.37	19	SNP	0.885	T
SF3A3	10946	genome.wustl.edu	37	1	38423888	38423888	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:38423888G>A	ENST00000373019.4	-	17	2431	c.1476C>T	c.(1474-1476)taC>taT	p.Y492Y	SF3A3_ENST00000448721.2_Silent_p.Y439Y	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	492					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCAGATCCTCGTATGTCTTCT	0.428																																						dbGAP											0													189.0	178.0	181.0					1																	38423888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.1476C>T	1.37:g.38423888G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPT5|Q15460|Q5VT87	Silent	SNP	pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin	p.Y492	ENST00000373019.4	37	c.1476	CCDS428.1	1																																																																																			SF3A3	-	pfam_DUF3449	ENSG00000183431		0.428	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A3	HGNC	protein_coding	OTTHUMT00000012976.1	161	0.00	0	G	NM_006802		38423888	38423888	-1	no_errors	ENST00000373019	ensembl	human	known	69_37n	silent	106	40.22	72	SNP	0.867	A
SFXN2	118980	genome.wustl.edu	37	10	104489394	104489395	+	Intron	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:104489394_104489395insT	ENST00000369893.5	+	6	674					NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2						iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCCTAGTTTTCTTTTTTGTATT	0.559											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.508-85->T	10.37:g.104489400_104489400dupT		Somatic	1382	WXS	Illumina GAIIx	Phase_IV	Q5JSM6	RNA	INS	-	NULL	ENST00000369893.5	37	NULL	CCDS7539.1	10																																																																																			SFXN2	-	-	ENSG00000156398		0.559	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	87	0.00	0	-	XM_058359		104489394	104489395	+1	no_errors	ENST00000473178	ensembl	human	known	69_37n	rna	76	29.63	32	INS	0.000:0.001	T
SGK2	10110	genome.wustl.edu	37	20	42208629	42208629	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:42208629T>C	ENST00000341458.4	+	11	1266	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	SGK2_ENST00000373077.1_Silent_p.H288H|SGK2_ENST00000373092.3_Silent_p.H289H|SGK2_ENST00000423407.3_Silent_p.H289H|SGK2_ENST00000373100.1_Silent_p.H289H|SGK2_ENST00000426287.1_Silent_p.H315H	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		H -> Y (in dbSNP:rs35793869). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAAGAACCATGTATTCTTCA	0.498																																						dbGAP											0													130.0	116.0	121.0					20																	42208629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.1047T>C	20.37:g.42208629T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.H349	ENST00000341458.4	37	c.1047	CCDS13320.1	20																																																																																			SGK2	-	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	ENSG00000101049		0.498	SGK2-002	KNOWN	basic|CCDS	protein_coding	SGK2	HGNC	protein_coding	OTTHUMT00000080383.1	159	0.00	0	T			42208629	42208629	+1	no_errors	ENST00000341458	ensembl	human	known	69_37n	silent	110	39.23	71	SNP	1.000	C
SGMS2	166929	genome.wustl.edu	37	4	108824544	108824544	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:108824544T>C	ENST00000394684.4	+	5	1284		c.e5+2		SGMS2_ENST00000359079.4_Splice_Site|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000394686.3_Splice_Site|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2						small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		TCAAAGAATGTAAGTAATAGC	0.453																																						dbGAP											0													93.0	85.0	88.0					4																	108824544		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.727+2T>C	4.37:g.108824544T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S9|B2RA61	Splice_Site	SNP	-	e3+2	ENST00000394684.4	37	c.727+2	CCDS3677.1	4	.	.	.	.	.	.	.	.	.	.	T	24.2	4.510261	0.85282	.	.	ENSG00000164023	ENST00000394684;ENST00000503862;ENST00000359079;ENST00000394686	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7499	0.77976	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SGMS2	109043993	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.040000	0.89188	2.117000	0.64856	0.533000	0.62120	.	SGMS2	-	-	ENSG00000164023		0.453	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGMS2	HGNC	protein_coding	OTTHUMT00000254752.1	132	0.00	0	T	NM_152621	Intron	108824544	108824544	+1	no_errors	ENST00000359079	ensembl	human	known	69_37n	splice_site	80	43.26	61	SNP	1.000	C
MKL1	57591	genome.wustl.edu	37	22	40805717	40805717	+	IGR	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:40805717A>G	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.D735G	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCGTCCGGGACATGCTGGTG	0.672			T	RBM15	acute megakaryocytic leukemia																																	dbGAP		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													90.0	92.0	92.0					22																	40805717		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40805717A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.D735G	ENST00000355630.3	37	c.2204	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	a	18.94	3.729612	0.69074	.	.	ENSG00000100359	ENST00000248929	T	0.18810	2.19	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.929;0.997;0.945	T	0.38908	-0.9639	10	0.87932	D	0	.	14.7394	0.69442	1.0:0.0:0.0:0.0	.	646;763;735	B4DVE3;Q96HU1-2;Q96HU1	.;.;SGSM3_HUMAN	G	735	ENSP00000248929:D735G	ENSP00000248929:D735G	D	+	2	0	SGSM3	39135663	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	6.940000	0.75917	1.951000	0.56629	0.456000	0.33151	GAC	SGSM3	-	NULL	ENSG00000100359		0.672	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321522.1	57	0.00	0	A	NM_020831		40805717	40805717	+1	no_errors	ENST00000248929	ensembl	human	known	69_37n	missense	26	44.68	21	SNP	1.000	G
SH3KBP1	30011	genome.wustl.edu	37	X	19564084	19564084	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:19564084C>T	ENST00000397821.3	-	15	1869	c.1579G>A	c.(1579-1581)Gtg>Atg	p.V527M	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.V490M|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.V289M|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.V266M	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	527					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GACGCGTCCACTCCTCTGTGC	0.483																																						dbGAP											0													240.0	167.0	192.0					X																	19564084		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1579G>A	X.37:g.19564084C>T	ENSP00000380921:p.Val527Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.V527M	ENST00000397821.3	37	c.1579	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	c	12.78	2.041089	0.35989	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.8	-1.49	0.08718	.	1.739290	0.02594	N	0.100272	T	0.17577	0.0422	N	0.19112	0.55	0.22171	N	0.999312	B;B;B	0.20550	0.027;0.027;0.046	B;B;B	0.18263	0.021;0.011;0.021	T	0.14008	-1.0488	10	0.42905	T	0.14	-0.0446	0.2449	0.00197	0.2222:0.2273:0.2179:0.3326	.	289;527;490	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	M	512;527;289;490;266;507	ENSP00000380921:V527M;ENSP00000369039:V289M;ENSP00000369020:V490M;ENSP00000442499:V266M;ENSP00000369049:V507M	ENSP00000369020:V490M	V	-	1	0	SH3KBP1	19474005	0.931000	0.31567	0.924000	0.36721	0.934000	0.57294	-0.145000	0.10265	-0.311000	0.08754	-0.227000	0.12334	GTG	SH3KBP1	-	NULL	ENSG00000147010		0.483	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1	197	0.00	0	C	NM_031892		19564084	19564084	-1	no_errors	ENST00000397821	ensembl	human	known	69_37n	missense	139	37.05	83	SNP	0.792	T
SIN3A	25942	genome.wustl.edu	37	15	75702533	75702533	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:75702533delT	ENST00000394947.3	-	7	1417	c.1103delA	c.(1102-1104)aacfs	p.N368fs	SIN3A_ENST00000360439.4_Frame_Shift_Del_p.N368fs|SIN3A_ENST00000394949.4_Frame_Shift_Del_p.N368fs	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ATCTTCCTGGTTTTTAAAGAG	0.413																																						dbGAP											0													102.0	102.0	102.0					15																	75702533		2197	4294	6491	-	-	-	SO:0001589	frameshift_variant	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1103delA	15.37:g.75702533delT	ENSP00000378402:p.Asn368fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.N368fs	ENST00000394947.3	37	c.1103	CCDS10279.1	15																																																																																			SIN3A	-	pfam_PAH,superfamily_PAH	ENSG00000169375		0.413	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	173	0.00	0	T	NM_015477		75702533	75702533	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	frame_shift_del	101	33.99	52	DEL	1.000	-
SIPA1L1	26037	genome.wustl.edu	37	14	72165841	72165841	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:72165841A>G	ENST00000555818.1	+	11	3866	c.3518A>G	c.(3517-3519)gAa>gGa	p.E1173G	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1173G|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E648G|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1173G	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1173					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCATGCCCGAAGGGTAGTTA	0.478																																						dbGAP											0													106.0	104.0	105.0					14																	72165841		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3518A>G	14.37:g.72165841A>G	ENSP00000450832:p.Glu1173Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E1173G	ENST00000555818.1	37	c.3518	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804340	0.50315	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.58	5.58	0.84498	.	0.047490	0.85682	D	0.000000	T	0.53270	0.1786	L	0.53249	1.67	0.58432	D	0.999999	P;B;P;P;P	0.44429	0.835;0.004;0.749;0.835;0.608	B;B;B;B;B	0.42522	0.39;0.001;0.269;0.39;0.077	T	0.59804	-0.7385	10	0.87932	D	0	-19.5596	15.7621	0.78091	1.0:0.0:0.0:0.0	.	648;1173;648;1173;1173	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	G	1173;1173;1173;648	ENSP00000370630:E1173G;ENSP00000450832:E1173G;ENSP00000351352:E1173G;ENSP00000440682:E648G	ENSP00000351352:E1173G	E	+	2	0	SIPA1L1	71235594	1.000000	0.71417	0.997000	0.53966	0.075000	0.17131	6.414000	0.73318	2.134000	0.65973	0.460000	0.39030	GAA	SIPA1L1	-	NULL	ENSG00000197555		0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	148	0.00	0	A	NM_015556		72165841	72165841	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	missense	81	41.43	58	SNP	1.000	G
SIPA1L3	23094	genome.wustl.edu	37	19	38610122	38610122	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:38610122A>C	ENST00000222345.6	+	9	2977	c.2468A>C	c.(2467-2469)gAg>gCg	p.E823A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	823	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCCGCCAGGAGTATCTCAAG	0.552																																						dbGAP											0													88.0	76.0	80.0					19																	38610122		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2468A>C	19.37:g.38610122A>C	ENSP00000222345:p.Glu823Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E823A	ENST00000222345.6	37	c.2468	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551362	0.86127	.	.	ENSG00000105738	ENST00000222345	T	0.57595	0.39	5.75	5.75	0.90469	Rap/ran-GAP (2);	0.051487	0.85682	D	0.000000	T	0.54775	0.1879	L	0.53561	1.675	0.47214	D	0.99935	B	0.24963	0.115	B	0.34346	0.18	T	0.56577	-0.7956	10	0.87932	D	0	-43.6207	15.0489	0.71850	1.0:0.0:0.0:0.0	.	823	O60292	SI1L3_HUMAN	A	823	ENSP00000222345:E823A	ENSP00000222345:E823A	E	+	2	0	SIPA1L3	43301962	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.184000	0.77705	2.201000	0.70794	0.533000	0.62120	GAG	SIPA1L3	-	pfam_Rap_GAP,pfscan_Rap_GAP	ENSG00000105738		0.552	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	71	0.00	0	A	XM_032278		38610122	38610122	+1	no_errors	ENST00000222345	ensembl	human	known	69_37n	missense	56	34.12	29	SNP	1.000	C
SKIV2L	6499	genome.wustl.edu	37	6	31930829	31930829	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:31930829C>T	ENST00000375394.2	+	13	1477	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	SKIV2L_ENST00000544581.1_Missense_Mutation_p.A262V	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	455	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTTCTGAGTGCCACCGTCCCC	0.582																																						dbGAP											0													130.0	99.0	110.0					6																	31930829		1511	2708	4219	-	-	-	SO:0001583	missense	0				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1364C>T	6.37:g.31930829C>T	ENSP00000364543:p.Ala455Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A455V	ENST00000375394.2	37	c.1364	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007961	0.93287	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	D;D	0.89123	-2.47;-2.47	4.85	4.85	0.62838	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97380	0.9143	H	0.99851	4.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99150	1.0858	10	0.87932	D	0	-14.9235	16.8971	0.86102	0.0:1.0:0.0:0.0	.	455	Q15477	SKIV2_HUMAN	V	455;297;262	ENSP00000364543:A455V;ENSP00000442645:A262V	ENSP00000364543:A455V	A	+	2	0	SKIV2L	32038808	1.000000	0.71417	0.884000	0.34674	0.636000	0.38137	6.922000	0.75811	2.520000	0.84964	0.650000	0.86243	GCC	SKIV2L	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd	ENSG00000204351		0.582	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	34	0.00	0	C			31930829	31930829	+1	no_errors	ENST00000375394	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	1.000	T
SLAMF7	57823	genome.wustl.edu	37	1	160723228	160723228	+	3'UTR	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:160723228delA	ENST00000368043.3	+	0	1306				SLAMF7_ENST00000444090.2_3'UTR|SLAMF7_ENST00000458602.2_3'UTR|SLAMF7_ENST00000359331.4_3'UTR|SLAMF7_ENST00000368042.3_3'UTR|SLAMF7_ENST00000458104.2_3'UTR|SLAMF7_ENST00000441662.2_3'UTR	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7						cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGCAAACCATAAAAAAAGTGC	0.373																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.*261A>-	1.37:g.160723228delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	RNA	DEL	-	NULL	ENST00000368043.3	37	NULL	CCDS1209.1	1																																																																																			SLAMF7	-	-	ENSG00000026751		0.373	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF7	HGNC	protein_coding	OTTHUMT00000060464.1	10	0.00	0	A	NM_021181		160723228	160723228	+1	no_errors	ENST00000484221	ensembl	human	known	69_37n	rna	7	30.00	3	DEL	0.012	-
SLC12A3	6559	genome.wustl.edu	37	16	56914066	56914066	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:56914066C>T	ENST00000563236.1	+	12	1493	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	SLC12A3_ENST00000438926.2_Missense_Mutation_p.P490S|SLC12A3_ENST00000262502.5_Missense_Mutation_p.P489S|SLC12A3_ENST00000566786.1_Missense_Mutation_p.P489S			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	490					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAGCTGTACCCACTGATCGG	0.622																																						dbGAP											0													49.0	39.0	43.0					16																	56914066		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1468C>T	16.37:g.56914066C>T	ENSP00000456149:p.Pro490Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSJ2|C9JNN9	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P490S	ENST00000563236.1	37	c.1468	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337392	0.81911	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.56	4.56	0.56223	Amino acid permease domain (1);	0.106709	0.64402	D	0.000003	D	0.85120	0.5624	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.85130	0.944;0.997;0.995	D	0.88807	0.3289	9	0.87932	D	0	.	17.5188	0.87781	0.0:1.0:0.0:0.0	.	489;490;490	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	S	489;490	.	ENSP00000262502:P490S	P	+	1	0	SLC12A3	55471567	1.000000	0.71417	0.996000	0.52242	0.715000	0.41141	5.774000	0.68906	2.359000	0.80004	0.561000	0.74099	CCA	SLC12A3	-	pfam_AA-permease_dom,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	ENSG00000070915		0.622	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	12	0.00	0	C			56914066	56914066	+1	no_errors	ENST00000438926	ensembl	human	known	69_37n	missense	1	83.33	5	SNP	1.000	T
SLC16A14	151473	genome.wustl.edu	37	2	230911325	230911325	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:230911325A>G	ENST00000295190.4	-	4	975	c.517T>C	c.(517-519)Ttc>Ctc	p.F173L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GTCATTAGGAACGTACCGAAT	0.587																																						dbGAP											0													81.0	79.0	79.0					2																	230911325		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.517T>C	2.37:g.230911325A>G	ENSP00000295190:p.Phe173Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F173L	ENST00000295190.4	37	c.517	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164231	0.78339	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.54071	0.59;0.59;0.59	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.087752	0.50627	N	0.000113	T	0.65112	0.2660	L	0.45581	1.43	0.80722	D	1	P;D	0.71674	0.795;0.998	P;D	0.74023	0.758;0.982	T	0.65282	-0.6206	10	0.45353	T	0.12	.	14.767	0.69646	1.0:0.0:0.0:0.0	.	173;173	E7EMG7;Q7RTX9	.;MOT14_HUMAN	L	173	ENSP00000295190:F173L;ENSP00000400352:F173L;ENSP00000395775:F173L	ENSP00000295190:F173L	F	-	1	0	SLC16A14	230619569	1.000000	0.71417	0.909000	0.35828	0.368000	0.29767	8.143000	0.89621	2.068000	0.61886	0.533000	0.62120	TTC	SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.587	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	119	0.00	0	A	NM_152527		230911325	230911325	-1	no_errors	ENST00000295190	ensembl	human	known	69_37n	missense	106	33.54	54	SNP	0.997	G
SLC16A5	9121	genome.wustl.edu	37	17	73100284	73100284	+	Intron	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:73100284C>A	ENST00000450736.2	+	5	1779				SLC16A5_ENST00000580123.1_Intron|SLC16A5_ENST00000538213.2_Missense_Mutation_p.T498N|SLC16A5_ENST00000329783.4_Intron			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5						monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	ATGTATGTAACCAGCGTCTAA	0.582																																						dbGAP											0													38.0	30.0	33.0					17																	73100284		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1364+9C>A	17.37:g.73100284C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E288	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.T498N	ENST00000450736.2	37	c.1493	CCDS11713.1	17	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514464	0.64522	.	.	ENSG00000170190	ENST00000538213	T	0.08458	3.09	5.29	5.29	0.74685	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.32439	N	0.547023	D	0.89917	1.0	D	0.83275	0.996	T	0.11690	-1.0577	8	0.49607	T	0.09	.	16.2168	0.82237	0.0:1.0:0.0:0.0	.	498	B4E288	.	N	498	ENSP00000440212:T498N	ENSP00000440212:T498N	T	+	2	0	SLC16A5	70611879	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	2.384000	0.44362	2.625000	0.88918	0.650000	0.86243	ACC	SLC16A5	-	NULL	ENSG00000170190		0.582	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	38	0.00	0	C	NM_004695		73100284	73100284	+1	no_errors	ENST00000538213	ensembl	human	putative	69_37n	missense	34	40.35	23	SNP	1.000	A
SLC17A2	10246	genome.wustl.edu	37	6	25918757	25918757	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:25918757T>C	ENST00000265425.3	-	5	627	c.607A>G	c.(607-609)Atc>Gtc	p.I203V	SLC17A2_ENST00000360488.3_Missense_Mutation_p.I203V|SLC17A2_ENST00000377850.3_Missense_Mutation_p.I203V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	203					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCCTGTGAGATTAGTCCCCCC	0.438																																						dbGAP											0													100.0	94.0	96.0					6																	25918757		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.607A>G	6.37:g.25918757T>C	ENSP00000265425:p.Ile203Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I203V	ENST00000265425.3	37	c.607		6	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816118	0.70912	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.59502	0.26;0.26;0.26	4.22	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000022	T	0.61123	0.2322	M	0.73430	2.235	0.37480	D	0.915942	P;P;P	0.50443	0.935;0.78;0.851	P;P;P	0.57620	0.824;0.657;0.525	T	0.67554	-0.5641	10	0.66056	D	0.02	.	10.0054	0.41953	0.0:0.0:0.0:1.0	.	203;203;203	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	V	203	ENSP00000353677:I203V;ENSP00000367081:I203V;ENSP00000265425:I203V	ENSP00000265425:I203V	I	-	1	0	SLC17A2	26026736	0.981000	0.34729	0.997000	0.53966	0.934000	0.57294	1.876000	0.39588	2.132000	0.65825	0.533000	0.62120	ATC	SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112337		0.438	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	178	0.00	0	T			25918757	25918757	-1	no_errors	ENST00000377850	ensembl	human	known	69_37n	missense	108	42.86	81	SNP	0.999	C
SLC22A2	6582	genome.wustl.edu	37	6	160664611	160664611	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:160664611T>C	ENST00000366953.3	-	7	1530	c.1272A>G	c.(1270-1272)atA>atG	p.I424M	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	424					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TACCACCAGGTATAAAAACTG	0.498																																						dbGAP											0													65.0	65.0	65.0					6																	160664611		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1272A>G	6.37:g.160664611T>C	ENSP00000355920:p.Ile424Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.I424M	ENST00000366953.3	37	c.1272	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	t	13.89	2.372961	0.42105	.	.	ENSG00000112499	ENST00000366953	T	0.59224	0.28	5.4	2.5	0.30297	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.226724	0.44688	D	0.000422	T	0.61702	0.2368	M	0.86268	2.805	0.80722	D	1	P;P	0.52577	0.936;0.954	P;P	0.58970	0.806;0.849	T	0.65857	-0.6066	10	0.87932	D	0	.	6.2844	0.21025	0.2164:0.0:0.6433:0.1403	.	424;424	O15244;O15244-2	S22A2_HUMAN;.	M	424	ENSP00000355920:I424M	ENSP00000355920:I424M	I	-	3	3	SLC22A2	160584601	0.998000	0.40836	0.939000	0.37840	0.083000	0.17756	0.393000	0.20817	0.866000	0.35629	-0.126000	0.14955	ATA	SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.498	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	97	0.00	0	T	NM_003058		160664611	160664611	-1	no_errors	ENST00000366953	ensembl	human	known	69_37n	missense	94	40.88	65	SNP	0.998	C
SLC23A2	9962	genome.wustl.edu	37	20	4880229	4880229	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:4880229T>C	ENST00000379333.1	-	6	846	c.454A>G	c.(454-456)Act>Gct	p.T152A	SLC23A2_ENST00000338244.1_Missense_Mutation_p.T152A|SLC23A2_ENST00000424750.2_Missense_Mutation_p.T152A|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	152					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGTAGCAAAGTAGTGATTCCC	0.557																																						dbGAP											0													220.0	204.0	209.0					20																	4880229		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.454A>G	20.37:g.4880229T>C	ENSP00000368637:p.Thr152Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.T152A	ENST00000379333.1	37	c.454	CCDS13085.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.25|12.25	1.882096|1.882096	0.33255|0.33255	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750|ENST00000423430	T;T;T|.	0.26957|.	1.7;1.7;1.7|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87362|0.87362	0.6158|0.6158	H|H	0.96576|0.96576	3.845|3.845	0.36835|0.36835	D|D	0.887086|0.887086	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	D|D	0.93131|0.93131	0.6533|0.6533	10|5	0.87932|.	D|.	0|.	-18.227|-18.227	13.7322|13.7322	0.62794|0.62794	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	152;152;152|.	B4DJZ1;A0MSJ5;Q9UGH3|.	.;.;S23A2_HUMAN|.	A|C	152|22	ENSP00000368637:T152A;ENSP00000344322:T152A;ENSP00000406601:T152A|.	ENSP00000344322:T152A|.	T|Y	-|-	1|2	0|0	SLC23A2|SLC23A2	4828229|4828229	1.000000|1.000000	0.71417|0.71417	0.311000|0.311000	0.25182|0.25182	0.783000|0.783000	0.44284|0.44284	8.027000|8.027000	0.88791|0.88791	1.902000|1.902000	0.55061|0.55061	0.379000|0.379000	0.24179|0.24179	ACT|TAC	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.557	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	425	0.00	0	T			4880229	4880229	-1	no_errors	ENST00000338244	ensembl	human	known	69_37n	missense	271	44.35	216	SNP	0.996	C
SLC24A3	57419	genome.wustl.edu	37	20	19679282	19679282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:19679282delC	ENST00000328041.6	+	15	1874	c.1677delC	c.(1675-1677)ctcfs	p.L559fs	RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	559					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCCTCGGTCTCCCCTGGGCTC	0.537																																						dbGAP											0													108.0	79.0	89.0					20																	19679282		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1677delC	20.37:g.19679282delC	ENSP00000333519:p.Leu559fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Frame_Shift_Del	DEL	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.W561fs	ENST00000328041.6	37	c.1677	CCDS13140.1	20																																																																																			SLC24A3	-	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000185052		0.537	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	22	0.00	0	C	NM_020689		19679282	19679282	+1	no_errors	ENST00000328041	ensembl	human	known	69_37n	frame_shift_del	11	26.67	4	DEL	0.886	-
SLC25A1	6576	genome.wustl.edu	37	22	19163948	19163950	+	In_Frame_Del	DEL	CTT	CTT	-	rs374511541		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:19163948_19163950delCTT	ENST00000215882.5	-	8	961_963	c.805_807delAAG	c.(805-807)aagdel	p.K269del	SLC25A1_ENST00000451283.1_In_Frame_Del_p.K166del|SLC25A1_ENST00000461267.1_5'Flank	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	269					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TGAGCCCCTCCTTCTTCAGGATC	0.635																																						dbGAP											0										1,4263		0,1,2131						5.5	1.0			93	2,8252		1,0,4126	no	coding	SLC25A1	NM_005984.2		1,1,6257	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				-	-	-	SO:0001651	inframe_deletion	0			U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"""Solute carriers"""	10979	protein-coding gene	gene with protein product		190315	"""solute carrier family 20 (mitochondrial citrate transporter), member 3"""	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.805_807delAAG	22.37:g.19163951_19163953delCTT	ENSP00000215882:p.Lys269del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8E8|Q9BSK6	In_Frame_Del	DEL	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.K269in_frame_del	ENST00000215882.5	37	c.807_805	CCDS13758.1	22																																																																																			SLC25A1	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000100075		0.635	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A1	HGNC	protein_coding	OTTHUMT00000316441.1	30	0.00	0	CTT	NM_005984		19163948	19163950	-1	no_errors	ENST00000215882	ensembl	human	known	69_37n	in_frame_del	19	34.48	10	DEL	0.946:1.000:1.000	-
SLC25A12	8604	genome.wustl.edu	37	2	172650214	172650214	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:172650214C>T	ENST00000422440.2	-	14	1406	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A350T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	457					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ATCTCTCCAGCTACTTGCAGA	0.498																																						dbGAP											0													83.0	82.0	83.0					2																	172650214		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1369G>A	2.37:g.172650214C>T	ENSP00000388658:p.Ala457Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.A457T	ENST00000422440.2	37	c.1369	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.496378	0.96355	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78126	-1.15;-1.15	5.31	5.31	0.75309	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	D	0.87423	0.2383	10	0.52906	T	0.07	-13.0472	18.9718	0.92718	0.0:1.0:0.0:0.0	.	350;457	B3KR64;O75746	.;CMC1_HUMAN	T	457;350	ENSP00000388658:A457T;ENSP00000376371:A350T	ENSP00000376371:A350T	A	-	1	0	SLC25A12	172358460	1.000000	0.71417	0.953000	0.39169	0.975000	0.68041	7.792000	0.85828	2.480000	0.83734	0.655000	0.94253	GCT	SLC25A12	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000115840		0.498	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	190	0.00	0	C	NM_003705		172650214	172650214	-1	no_errors	ENST00000422440	ensembl	human	known	69_37n	missense	119	40.20	80	SNP	1.000	T
SLC25A23	79085	genome.wustl.edu	37	19	6444206	6444206	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:6444206G>A	ENST00000301454.4	-	9	1284	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	SLC25A23_ENST00000601760.1_5'UTR|SLC25A23_ENST00000334510.5_Missense_Mutation_p.A393V|SLC25A23_ENST00000414491.2_Missense_Mutation_p.A154V	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	393					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CGGGTAACTGGCTATCTGGCC	0.657																																						dbGAP											0													31.0	28.0	29.0					19																	6444206		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1178C>T	19.37:g.6444206G>A	ENSP00000301454:p.Ala393Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.A440V	ENST00000301454.4	37	c.1319	CCDS32882.1	19	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784713	0.90282	.	.	ENSG00000125648	ENST00000264088;ENST00000422102;ENST00000301454;ENST00000414491;ENST00000334510	T;T;T;T	0.76709	-1.04;-1.02;-1.02;-1.04	5.04	5.04	0.67666	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.79516	0.4459	L	0.60455	1.87	0.80722	D	1	B;P	0.36222	0.016;0.544	B;P	0.46917	0.023;0.531	T	0.74100	-0.3774	10	0.08179	T	0.78	-26.5945	17.1508	0.86777	0.0:0.0:1.0:0.0	.	154;393	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	V	440;94;393;154;393	ENSP00000264088:A440V;ENSP00000301454:A393V;ENSP00000408814:A154V;ENSP00000334537:A393V	ENSP00000264088:A440V	A	-	2	0	SLC25A23	6395206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.345000	0.97053	2.345000	0.79718	0.462000	0.41574	GCC	SLC25A23	-	superfamily_Mt_carrier_dom,prints_Mit_carrier	ENSG00000125648		0.657	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A23	HGNC	protein_coding	OTTHUMT00000453325.1	11	0.00	0	G	NM_024103		6444206	6444206	-1	no_errors	ENST00000264088	ensembl	human	known	69_37n	missense	6	53.85	7	SNP	1.000	A
SLC25A25	114789	genome.wustl.edu	37	9	130869453	130869453	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:130869453C>T	ENST00000373064.5	+	9	1483	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V	SLC25A25_ENST00000373068.2_Missense_Mutation_p.A441V|SLC25A25_ENST00000373069.5_Missense_Mutation_p.A453V|SLC25A25_ENST00000433501.1_Missense_Mutation_p.A304V|RP11-395P17.11_ENST00000602939.1_RNA|SLC25A25_ENST00000432073.2_Missense_Mutation_p.A427V|SLC25A25_ENST00000373066.5_Missense_Mutation_p.A439V	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	407					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						CGGATGCAGGCGCAAGGTAAG	0.662																																						dbGAP											0													38.0	40.0	40.0					9																	130869453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.1220C>T	9.37:g.130869453C>T	ENSP00000362155:p.Ala407Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,prints_Mit_carrier,prints_Graves_DC,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier	p.A453V	ENST00000373064.5	37	c.1358	CCDS6890.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.251845	0.95336	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.46	5.46	0.80206	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85283	0.5661	L	0.50993	1.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.78314	0.954;0.923;0.923;0.991	D	0.84384	0.0551	10	0.42905	T	0.14	-18.5118	18.3109	0.90199	0.0:1.0:0.0:0.0	.	407;439;427;441	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	V	441;453;427;439;407;304	ENSP00000362159:A441V;ENSP00000362160:A453V;ENSP00000410053:A427V;ENSP00000362157:A439V;ENSP00000362155:A407V;ENSP00000401672:A304V	ENSP00000362155:A407V	A	+	2	0	SLC25A25	129909274	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	7.818000	0.86416	2.557000	0.86248	0.655000	0.94253	GCG	SLC25A25	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000148339		0.662	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A25	HGNC	protein_coding	OTTHUMT00000054407.1	32	0.00	0	C	NM_052901		130869453	130869453	+1	no_errors	ENST00000373069	ensembl	human	known	69_37n	missense	21	50.00	21	SNP	1.000	T
SLC26A4	5172	genome.wustl.edu	37	7	107336402	107336402	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:107336402G>T	ENST00000265715.3	+	13	1686	c.1462G>T	c.(1462-1464)Gtg>Ttg	p.V488L	SLC26A4_ENST00000543100.1_Missense_Mutation_p.V57L|SLC26A4_ENST00000541474.1_Missense_Mutation_p.V49L|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Missense_Mutation_p.V75L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	488					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TACGTGTATAGTGTCCATCAT	0.378									Pendred syndrome																													dbGAP											0													292.0	275.0	281.0					7																	107336402		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1462G>T	7.37:g.107336402G>T	ENSP00000265715:p.Val488Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.V488L	ENST00000265715.3	37	c.1462	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815152	0.50527	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94376	-3.1;-3.34;-3.41;-3.4	6.06	3.16	0.36331	.	0.230310	0.42548	D	0.000686	D	0.82852	0.5127	N	0.04508	-0.205	0.19775	N	0.999955	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.73000	-0.4120	10	0.54805	T	0.06	.	9.0151	0.36164	0.2518:0.0:0.7482:0.0	.	49;75;488	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	L	488;49;75;57	ENSP00000265715:V488L;ENSP00000439743:V49L;ENSP00000437427:V75L;ENSP00000441209:V57L	ENSP00000265715:V488L	V	+	1	0	SLC26A4	107123638	0.929000	0.31497	0.003000	0.11579	0.915000	0.54546	2.670000	0.46833	0.365000	0.24400	0.643000	0.83706	GTG	SLC26A4	-	tigrfam_SulP_transpt	ENSG00000091137		0.378	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	348	0.00	0	G	NM_000441		107336402	107336402	+1	no_errors	ENST00000265715	ensembl	human	known	69_37n	missense	228	41.24	160	SNP	0.534	T
SLC26A3	1811	genome.wustl.edu	37	7	107420160	107420160	+	Nonsense_Mutation	SNP	G	G	A	rs386833451		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:107420160G>A	ENST00000340010.5	-	12	1544	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.Q419*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	454					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCAGCAAACTGCATCAGCATT	0.358																																						dbGAP											0													153.0	130.0	138.0					7																	107420160		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1360C>T	7.37:g.107420160G>A	ENSP00000345873:p.Gln454*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.Q454*	ENST00000340010.5	37	c.1360	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.237018	0.98719	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.2252	0.93815	0.0:0.0:1.0:0.0	.	.	.	.	X	419;454	.	ENSP00000345873:Q454X	Q	-	1	0	SLC26A3	107207396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.606000	0.88127	0.655000	0.94253	CAG	SLC26A3	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000091138		0.358	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	187	0.53	1	G	NM_000111		107420160	107420160	-1	no_errors	ENST00000340010	ensembl	human	known	69_37n	nonsense	70	42.62	52	SNP	1.000	A
SLC29A1	2030	genome.wustl.edu	37	6	44198032	44198032	+	Intron	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:44198032delC	ENST00000393841.1	+	7	945				SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371731.1_Intron|SLC29A1_ENST00000313248.7_Intron|SLC29A1_ENST00000393844.1_Intron|SLC29A1_ENST00000371740.5_Intron|SLC29A1_ENST00000371724.1_Intron|SLC29A1_ENST00000371708.1_Intron|SLC29A1_ENST00000427851.2_Intron|SLC29A1_ENST00000371755.3_Intron|SLC29A1_ENST00000371713.1_Intron	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1						cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TTCTTGGGCACCCCCAACCAC	0.617																																						dbGAP											0													97.0	96.0	97.0					6																	44198032		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.455-52C>-	6.37:g.44198032delC		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	RNA	DEL	-	NULL	ENST00000393841.1	37	NULL	CCDS4908.1	6																																																																																			SLC29A1	-	-	ENSG00000112759		0.617	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	77	0.00	0	C			44198032	44198032	+1	no_errors	ENST00000472176	ensembl	human	known	69_37n	rna	58	28.05	23	DEL	0.001	-
SLC2A7	155184	genome.wustl.edu	37	1	9082985	9082985	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:9082985G>A	ENST00000400906.1	-	3	302	c.303C>T	c.(301-303)agC>agT	p.S101S		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	101					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ACCTGCCGCAGCTATCAACCA	0.552																																						dbGAP											0													134.0	131.0	132.0					1																	9082985		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.303C>T	1.37:g.9082985G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A333	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.S101	ENST00000400906.1	37	c.303	CCDS98.2	1																																																																																			SLC2A7	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000197241		0.552	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A7	HGNC	protein_coding	OTTHUMT00000127768.3	160	0.00	0	G	NM_207420		9082985	9082985	-1	no_errors	ENST00000400906	ensembl	human	known	69_37n	silent	100	48.98	96	SNP	0.000	A
SLC30A10	55532	genome.wustl.edu	37	1	220101149	220101149	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:220101149C>T	ENST00000366926.3	-	1	795	c.634G>A	c.(634-636)Gta>Ata	p.V212I	SLC30A10_ENST00000536992.1_Missense_Mutation_p.V212I|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	212					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCACCTGCTACGTTTGCGAAC	0.647																																					Colon(76;360 1614 43677 51136)	dbGAP											0													18.0	16.0	17.0					1																	220101149		2186	4254	6440	-	-	-	SO:0001583	missense	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.634G>A	1.37:g.220101149C>T	ENSP00000355893:p.Val212Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL9|Q9NPW0	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.V212I	ENST00000366926.3	37	c.634	CCDS31026.1	1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918950	0.52546	.	.	ENSG00000196660	ENST00000366926;ENST00000536992	T;T	0.80480	-0.07;-1.38	4.41	3.48	0.39840	.	.	.	.	.	T	0.60431	0.2268	N	0.12746	0.255	0.26327	N	0.977587	B	0.30511	0.282	B	0.22386	0.039	T	0.47548	-0.9109	8	.	.	.	-0.0914	7.8953	0.29702	0.1828:0.6401:0.177:0.0	.	212	Q6XR72	ZNT10_HUMAN	I	212	ENSP00000355893:V212I;ENSP00000440627:V212I	.	V	-	1	0	SLC30A10	218167772	0.739000	0.28196	0.857000	0.33713	0.011000	0.07611	1.720000	0.38022	0.950000	0.37743	-0.169000	0.13324	GTA	SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000196660		0.647	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	15	0.00	0	C	NM_018713		220101149	220101149	-1	no_errors	ENST00000366926	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	0.882	T
SLC34A1	6569	genome.wustl.edu	37	5	176813345	176813345	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:176813345C>T	ENST00000324417.5	+	4	474	c.383C>T	c.(382-384)gCt>gTt	p.A128V	SLC34A1_ENST00000512593.1_Missense_Mutation_p.A128V	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	128					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCAGCTGGCTGGAGGTAGG	0.637																																						dbGAP											0													91.0	83.0	86.0					5																	176813345		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.383C>T	5.37:g.176813345C>T	ENSP00000321424:p.Ala128Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPE3	Missense_Mutation	SNP	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	p.A128V	ENST00000324417.5	37	c.383	CCDS4418.1	5	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136613	0.21123	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.86097	-2.07;-2.07	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.74589	0.3736	N	0.17474	0.49	0.44136	D	0.996925	B	0.22146	0.065	B	0.31101	0.124	T	0.68247	-0.5459	9	.	.	.	-30.0168	11.7728	0.51968	0.0:0.9198:0.0:0.0802	.	128	Q06495	NPT2A_HUMAN	V	128	ENSP00000423022:A128V;ENSP00000321424:A128V	.	A	+	2	0	SLC34A1	176745951	0.829000	0.29322	0.991000	0.47740	0.979000	0.70002	1.796000	0.38794	2.573000	0.86826	0.462000	0.41574	GCT	SLC34A1	-	pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt	ENSG00000131183		0.637	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	72	0.00	0	C	NM_003052		176813345	176813345	+1	no_errors	ENST00000324417	ensembl	human	known	69_37n	missense	42	51.16	44	SNP	0.964	T
SLC35G3	146861	genome.wustl.edu	37	17	33520759	33520759	+	Missense_Mutation	SNP	C	C	T	rs201078434		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:33520759C>T	ENST00000297307.5	-	1	653	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	190						integral component of membrane (GO:0016021)											TAGCCCAGGGCGGTGTAGACA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18183	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													121.0	126.0	124.0					17																	33520759		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.568G>A	17.37:g.33520759C>T	ENSP00000297307:p.Ala190Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGE9	Missense_Mutation	SNP	pfam_DMT	p.A190T	ENST00000297307.5	37	c.568	CCDS11293.1	17	.	.	.	.	.	.	.	.	.	.	C	6.839	0.524074	0.13066	.	.	ENSG00000164729	ENST00000297307	T	0.32753	1.44	.	.	.	.	0.138504	0.32287	N	0.006302	T	0.11836	0.0288	N	0.19112	0.55	0.36378	D	0.861711	B	0.11235	0.004	B	0.04013	0.001	T	0.32161	-0.9917	9	0.02654	T	1	-0.7964	2.6646	0.05037	0.0:0.5037:0.0:0.4962	.	190	Q8N808	S35G3_HUMAN	T	190	ENSP00000297307:A190T	ENSP00000297307:A190T	A	-	1	0	SLC35G3	30544872	0.976000	0.34144	0.225000	0.23894	0.226000	0.24999	1.296000	0.33389	0.064000	0.16427	0.064000	0.15345	GCC	SLC35G3	-	NULL	ENSG00000164729		0.597	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G3	HGNC	protein_coding	OTTHUMT00000256445.2	276	0.00	0	C	NM_152462		33520759	33520759	-1	no_errors	ENST00000297307	ensembl	human	known	69_37n	missense	141	44.75	115	SNP	0.995	T
SLC35B1	10237	genome.wustl.edu	37	17	47784778	47784778	+	Intron	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:47784778G>T	ENST00000240333.6	-	1	226				SLC35B1_ENST00000415270.2_Intron|RP11-613C6.2_ENST00000512720.1_RNA			P78383	S35B1_HUMAN	solute carrier family 35, member B1						transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CAAGCATCTGGGAGTACCAAA	0.527											OREG0024545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.104+313C>A	17.37:g.47784778G>T		Somatic	949	WXS	Illumina GAIIx	Phase_IV	B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	pfam_UAA,pfam_DMT	p.P14T	ENST00000240333.6	37	c.40	CCDS11552.1	17	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183126	0.21870	.	.	ENSG00000121073	ENST00000376622;ENST00000508520;ENST00000515850	T;T	0.41400	1.38;1.0	4.13	-4.04	0.04010	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45527	-0.9255	6	0.87932	D	0	.	5.1247	0.14878	0.5279:0.0:0.3243:0.1479	.	.	.	.	T	40;14;45	ENSP00000424367:P14T;ENSP00000427689:P45T	ENSP00000365809:P40T	P	-	1	0	SLC35B1	45139777	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.063000	0.14410	-0.723000	0.04915	-0.768000	0.03414	CCA	SLC35B1	-	NULL	ENSG00000121073		0.527	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B1	HGNC	protein_coding	OTTHUMT00000365564.2	13	0.00	0	G	NM_005827		47784778	47784778	-1	no_stop_codon	ENST00000508520	ensembl	human	putative	69_37n	missense	3	62.50	5	SNP	0.000	T
SLC35G5	83650	genome.wustl.edu	37	8	11189193	11189193	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:11189193A>G	ENST00000382435.4	+	1	797	c.578A>G	c.(577-579)tAt>tGt	p.Y193C		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	193						integral component of membrane (GO:0016021)											ACCCTGGGCTATGTGCAGGCT	0.577																																						dbGAP											0													133.0	134.0	134.0					8																	11189193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.578A>G	8.37:g.11189193A>G	ENSP00000371872:p.Tyr193Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.Y193C	ENST00000382435.4	37	c.578	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	A	9.811	1.183156	0.21870	.	.	ENSG00000177710	ENST00000382435	T	0.30981	1.51	.	.	.	.	0.000000	0.43579	D	0.000557	T	0.35595	0.0937	L	0.29908	0.895	0.25761	N	0.984942	D	0.89917	1.0	D	0.85130	0.997	T	0.10706	-1.0618	8	0.54805	T	0.06	-3.7502	.	.	.	.	193	Q96KT7	S35G5_HUMAN	C	193	ENSP00000371872:Y193C	ENSP00000371872:Y193C	Y	+	2	0	SLC35G5	11226603	0.913000	0.31002	0.153000	0.22517	0.150000	0.21749	1.739000	0.38217	0.077000	0.16863	0.076000	0.15429	TAT	SLC35G5	-	NULL	ENSG00000177710		0.577	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2	168	0.00	0	A	NM_054028		11189193	11189193	+1	no_errors	ENST00000382435	ensembl	human	known	69_37n	missense	95	44.51	77	SNP	0.419	G
SLC37A1	54020	genome.wustl.edu	37	21	43959660	43959660	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:43959660T>C	ENST00000352133.2	+	6	1371	c.389T>C	c.(388-390)cTa>cCa	p.L130P	SLC37A1_ENST00000398341.3_Missense_Mutation_p.L130P			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	130					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						AGGTATTACCTAACTTTCGGG	0.502																																						dbGAP											0													112.0	101.0	105.0					21																	43959660		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.389T>C	21.37:g.43959660T>C	ENSP00000344648:p.Leu130Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L130P	ENST00000352133.2	37	c.389	CCDS13689.1	21	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861823	0.51482	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.62364	0.03;0.03	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000002	D	0.83880	0.5350	H	0.94385	3.53	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.88699	0.3214	10	0.87932	D	0	-15.9779	14.3781	0.66892	0.0:0.0:0.0:1.0	.	130	P57057	GLPT_HUMAN	P	130	ENSP00000381383:L130P;ENSP00000344648:L130P	ENSP00000344648:L130P	L	+	2	0	SLC37A1	42832729	1.000000	0.71417	0.888000	0.34837	0.047000	0.14425	7.743000	0.85020	1.806000	0.52798	0.454000	0.30748	CTA	SLC37A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000160190		0.502	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC37A1	HGNC	protein_coding	OTTHUMT00000195377.1	119	0.00	0	T			43959660	43959660	+1	no_errors	ENST00000352133	ensembl	human	known	69_37n	missense	40	45.95	34	SNP	0.997	C
SLC39A12	221074	genome.wustl.edu	37	10	18242342	18242342	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:18242342T>C	ENST00000377369.2	+	2	410	c.137T>C	c.(136-138)cTg>cCg	p.L46P	SLC39A12_ENST00000377374.4_Missense_Mutation_p.L46P|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L46P	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	46					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCGGCAGACCTGCTACAGGTT	0.527																																						dbGAP											0													93.0	89.0	90.0					10																	18242342		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.137T>C	10.37:g.18242342T>C	ENSP00000366586:p.Leu46Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.L46P	ENST00000377369.2	37	c.137	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	T	12.17	1.858434	0.32791	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.26067	1.76;1.76;1.76	5.97	4.84	0.62591	.	2.444780	0.01628	N	0.023371	T	0.20901	0.0503	N	0.14661	0.345	0.20821	N	0.999841	P;P;P	0.42203	0.773;0.664;0.728	B;B;B	0.39738	0.308;0.163;0.243	T	0.26395	-1.0104	10	0.62326	D	0.03	-2.1097	8.2612	0.31786	0.0:0.0693:0.1463:0.7844	.	46;46;46	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	P	46	ENSP00000366586:L46P;ENSP00000366591:L46P;ENSP00000366588:L46P	ENSP00000366586:L46P	L	+	2	0	SLC39A12	18282348	0.898000	0.30612	0.001000	0.08648	0.056000	0.15407	2.920000	0.48844	1.079000	0.41038	0.533000	0.62120	CTG	SLC39A12	-	NULL	ENSG00000148482		0.527	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		131	0.00	0	T	NM_152725		18242342	18242342	+1	no_errors	ENST00000377369	ensembl	human	known	69_37n	missense	89	41.83	64	SNP	0.003	C
SLC39A14	23516	genome.wustl.edu	37	8	22275339	22275339	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:22275339G>T	ENST00000381237.1	+	8	1442	c.1323G>T	c.(1321-1323)ctG>ctT	p.L441L	SLC39A14_ENST00000289952.5_Silent_p.L441L|SLC39A14_ENST00000359741.5_Silent_p.L441L|SLC39A14_ENST00000240095.6_Silent_p.L441L	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	441					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		ATATTTCTCTGGCTGATATGG	0.463																																						dbGAP											0													91.0	81.0	84.0					8																	22275339		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.1323G>T	8.37:g.22275339G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Silent	SNP	pfam_ZIP	p.L441	ENST00000381237.1	37	c.1323	CCDS47823.1	8																																																																																			SLC39A14	-	pfam_ZIP	ENSG00000104635		0.463	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A14	HGNC	protein_coding	OTTHUMT00000215039.2	123	0.00	0	G	XM_046677		22275339	22275339	+1	no_errors	ENST00000359741	ensembl	human	known	69_37n	silent	67	39.64	44	SNP	1.000	T
SLC44A1	23446	genome.wustl.edu	37	9	108136937	108136937	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:108136937C>T	ENST00000374720.3	+	13	1800	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	SLC44A1_ENST00000374723.1_Missense_Mutation_p.A518V|SLC44A1_ENST00000374724.1_Missense_Mutation_p.A518V|SLC44A1_ENST00000343170.7_Missense_Mutation_p.A310V	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	518					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCAAAGGATGCCTTTGTCATT	0.408																																						dbGAP											0													194.0	170.0	178.0					9																	108136937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1553C>T	9.37:g.108136937C>T	ENSP00000363852:p.Ala518Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.A518V	ENST00000374720.3	37	c.1553	CCDS6763.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.386549	0.95967	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	M	0.90252	3.1	0.80722	D	1	D;D;D	0.89917	0.972;0.972;1.0	P;P;D	0.91635	0.868;0.868;0.999	T	0.68032	-0.5516	10	0.62326	D	0.03	-7.9378	19.834	0.96648	0.0:1.0:0.0:0.0	.	518;518;518	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	V	518;518;518;310	ENSP00000363855:A518V;ENSP00000363852:A518V;ENSP00000363856:A518V;ENSP00000341856:A310V	ENSP00000341856:A310V	A	+	2	0	SLC44A1	107176758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.370000	0.79589	2.681000	0.91329	0.655000	0.94253	GCC	SLC44A1	-	pfam_Choline_transptr-like	ENSG00000070214		0.408	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	319	0.00	0	C	NM_080546		108136937	108136937	+1	no_errors	ENST00000374720	ensembl	human	known	69_37n	missense	144	43.97	113	SNP	1.000	T
SLC5A6	8884	genome.wustl.edu	37	2	27423439	27423439	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:27423439G>A	ENST00000310574.3	-	17	2246	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	SLC5A6_ENST00000408041.1_Silent_p.L591L|SLC5A6_ENST00000461319.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	591					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	GGCCAGTGTCGAGGTGGTCCT	0.582																																						dbGAP											0													60.0	55.0	57.0					2																	27423439		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1773C>T	2.37:g.27423439G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB85|D6W549|Q969Y5	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L591	ENST00000310574.3	37	c.1773	CCDS1740.1	2																																																																																			SLC5A6	-	NULL	ENSG00000138074		0.582	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	69	0.00	0	G	NM_021095		27423439	27423439	-1	no_errors	ENST00000310574	ensembl	human	known	69_37n	silent	61	39.00	39	SNP	0.000	A
SLC8A3	6547	genome.wustl.edu	37	14	70527617	70527617	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:70527617G>A	ENST00000381269.2	-	3	2577	c.1824C>T	c.(1822-1824)taC>taT	p.Y608Y	SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000216568.7_De_novo_Start_OutOfFrame|SLC8A3_ENST00000356921.2_Silent_p.Y608Y|SLC8A3_ENST00000534137.1_Silent_p.Y608Y|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000533899.1_5'UTR	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	608	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTGCCTTTCGTATTCCTCCT	0.413																																						dbGAP											0													181.0	155.0	164.0					14																	70527617		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1824C>T	14.37:g.70527617G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.Y608	ENST00000381269.2	37	c.1824	CCDS35498.1	14																																																																																			SLC8A3	-	pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex	ENSG00000100678		0.413	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1	237	0.00	0	G			70527617	70527617	-1	no_errors	ENST00000381269	ensembl	human	known	69_37n	silent	122	36.13	69	SNP	1.000	A
SLC9A2	6549	genome.wustl.edu	37	2	103236535	103236535	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:103236535C>T	ENST00000233969.2	+	1	370	c.228C>T	c.(226-228)ccC>ccT	p.P76P		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	76					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGGATTACCCCCACGTGCAGA	0.632																																						dbGAP											0													59.0	51.0	54.0					2																	103236535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.228C>T	2.37:g.103236535C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMS2	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.P76	ENST00000233969.2	37	c.228	CCDS2062.1	2																																																																																			SLC9A2	-	tigrfam_NaH_exchanger	ENSG00000115616		0.632	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	18	0.00	0	C			103236535	103236535	+1	no_errors	ENST00000233969	ensembl	human	known	69_37n	silent	15	21.05	4	SNP	0.996	T
SLC9A3R1	9368	genome.wustl.edu	37	17	72758269	72758269	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:72758269C>G	ENST00000262613.5	+	2	755	c.560C>G	c.(559-561)cCg>cGg	p.P187R	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.P31R	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	187	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						CCAGACTCCCCGGCTGAGGCT	0.612																																						dbGAP											0													70.0	72.0	71.0					17																	72758269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.560C>G	17.37:g.72758269C>G	ENSP00000262613:p.Pro187Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.P187R	ENST00000262613.5	37	c.560	CCDS11705.1	17	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102509	0.56183	.	.	ENSG00000109062	ENST00000262613;ENST00000413388	T	0.33216	1.42	5.14	4.17	0.49024	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.93016	3.37	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.73266	-0.4037	10	0.87932	D	0	-15.9075	13.3576	0.60638	0.0:0.9236:0.0:0.0764	.	187	O14745	NHRF1_HUMAN	R	187;137	ENSP00000262613:P187R	ENSP00000262613:P187R	P	+	2	0	SLC9A3R1	70269864	1.000000	0.71417	0.010000	0.14722	0.290000	0.27261	7.776000	0.85560	1.154000	0.42482	0.462000	0.41574	CCG	SLC9A3R1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	ENSG00000109062		0.612	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R1	HGNC	protein_coding	OTTHUMT00000443671.1	53	0.00	0	C			72758269	72758269	+1	no_errors	ENST00000262613	ensembl	human	known	69_37n	missense	26	45.83	22	SNP	0.916	G
SLC9A9	285195	genome.wustl.edu	37	3	143185970	143185970	+	Missense_Mutation	SNP	T	T	C	rs61734409	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:143185970T>C	ENST00000316549.6	-	12	1586	c.1378A>G	c.(1378-1380)Atg>Gtg	p.M460V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	460					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GTAAACATCATTTGTTTGGGC	0.473													T|||	2	0.000399361	0.0015	0.0	5008	,	,		18708	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													167.0	139.0	149.0					3																	143185970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1378A>G	3.37:g.143185970T>C	ENSP00000320246:p.Met460Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.M460V	ENST00000316549.6	37	c.1378	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213521	0.79352	.	.	ENSG00000181804	ENST00000316549	T	0.15139	2.45	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.33710	1.025	0.58432	D	0.99999	P	0.50156	0.932	D	0.67103	0.949	T	0.02059	-1.1221	10	0.23891	T	0.37	.	15.9958	0.80243	0.0:0.0:0.0:1.0	.	460	Q8IVB4	SL9A9_HUMAN	V	460	ENSP00000320246:M460V	ENSP00000320246:M460V	M	-	1	0	SLC9A9	144668660	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.671000	0.83941	2.188000	0.69820	0.533000	0.62120	ATG	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000181804		0.473	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	78	0.00	0	T	NM_173653		143185970	143185970	-1	no_errors	ENST00000316549	ensembl	human	known	69_37n	missense	49	44.32	39	SNP	1.000	C
SLCO3A1	28232	genome.wustl.edu	37	15	92669300	92669300	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:92669300C>T	ENST00000318445.6	+	6	1398	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.A395V	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	395					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGGATGACTGCGATCCCGTGT	0.602																																						dbGAP											0													120.0	106.0	111.0					15																	92669300		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1184C>T	15.37:g.92669300C>T	ENSP00000320634:p.Ala395Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.A395V	ENST00000318445.6	37	c.1184	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575359	0.28092	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.81415	-1.49;-1.49	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	N	0.21194	0.64	0.80722	D	1	P;D;P	0.56521	0.459;0.976;0.905	B;B;B	0.42087	0.036;0.375;0.33	T	0.68652	-0.5352	10	0.13108	T	0.6	.	19.3564	0.94416	0.0:1.0:0.0:0.0	.	337;395;395	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	V	395;395;114	ENSP00000320634:A395V;ENSP00000387846:A395V	ENSP00000320634:A395V	A	+	2	0	SLCO3A1	90470304	1.000000	0.71417	0.114000	0.21550	0.756000	0.42949	7.270000	0.78493	2.572000	0.86782	0.561000	0.74099	GCG	SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.602	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	117	0.00	0	C	NM_013272		92669300	92669300	+1	no_errors	ENST00000318445	ensembl	human	known	69_37n	missense	71	44.53	57	SNP	0.999	T
SLCO6A1	133482	genome.wustl.edu	37	5	101748805	101748805	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:101748805T>A	ENST00000506729.1	-	9	1686	c.1515A>T	c.(1513-1515)aaA>aaT	p.K505N	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.K252N|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K443N|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K505N|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.K252N			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	505	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCATCTACATTTTTCATTGC	0.328																																						dbGAP											0													44.0	46.0	45.0					5																	101748805		2203	4294	6497	-	-	-	SO:0001583	missense	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1515A>T	5.37:g.101748805T>A	ENSP00000421339:p.Lys505Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.K505N	ENST00000506729.1	37	c.1515	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	T	6.294	0.422374	0.11928	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.25	-6.58	0.01836	Major facilitator superfamily domain, general substrate transporter (1);	1.131080	0.06799	N	0.788335	T	0.30854	0.0778	N	0.01493	-0.835	0.18873	N	0.999988	P;B;P	0.49961	0.892;0.027;0.93	B;B;P	0.51742	0.365;0.089;0.678	T	0.26815	-1.0092	10	0.09084	T	0.74	.	1.4174	0.02305	0.229:0.0963:0.3231:0.3516	.	443;252;505	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	N	505;505;443;252;252	ENSP00000421339:K505N;ENSP00000369135:K505N;ENSP00000373671:K443N;ENSP00000421990:K252N;ENSP00000369138:K252N	ENSP00000369135:K505N	K	-	3	2	SLCO6A1	101776704	0.000000	0.05858	0.056000	0.19401	0.028000	0.11728	-2.231000	0.01206	-0.802000	0.04421	-0.250000	0.11733	AAA	SLCO6A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000205359		0.328	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	92	0.00	0	T	NM_173488		101748805	101748805	-1	no_errors	ENST00000379807	ensembl	human	known	69_37n	missense	101	27.66	39	SNP	0.015	A
SLCO6A1	133482	genome.wustl.edu	37	5	101794186	101794186	+	Missense_Mutation	SNP	C	C	T	rs556934408		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:101794186C>T	ENST00000506729.1	-	6	1202	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R282Q|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R344Q|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	344						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTTTTATCCGTGTTGAACC	0.303													C|||	1	0.000199681	0.0	0.0	5008	,	,		14561	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													114.0	112.0	113.0					5																	101794186		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1031G>A	5.37:g.101794186C>T	ENSP00000421339:p.Arg344Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.R344Q	ENST00000506729.1	37	c.1031	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312783	0.23908	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019	T;T;T	0.38887	1.11;1.11;1.11	4.3	-3.14	0.05250	Major facilitator superfamily domain, general substrate transporter (1);	1.349280	0.05010	N	0.470732	T	0.27134	0.0665	L	0.31752	0.955	0.09310	N	1	B;B	0.22346	0.055;0.068	B;B	0.16722	0.016;0.008	T	0.20472	-1.0274	10	0.38643	T	0.18	.	4.5005	0.11862	0.167:0.4254:0.0:0.4076	.	282;344	Q86UG4-2;Q86UG4	.;SO6A1_HUMAN	Q	344;344;282	ENSP00000421339:R344Q;ENSP00000369135:R344Q;ENSP00000373671:R282Q	ENSP00000369135:R344Q	R	-	2	0	SLCO6A1	101822085	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.788000	0.04614	-0.455000	0.07054	-0.290000	0.09829	CGG	SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000205359		0.303	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	278	0.00	0	C	NM_173488		101794186	101794186	-1	no_errors	ENST00000379807	ensembl	human	known	69_37n	missense	269	29.02	110	SNP	0.000	T
SLIT1	6585	genome.wustl.edu	37	10	98763829	98763829	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:98763829C>T	ENST00000266058.4	-	34	4106	c.3861G>A	c.(3859-3861)gtG>gtA	p.V1287V	SLIT1_ENST00000371070.4_Silent_p.V1287V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1287	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCTCACCTCCCACATAGAGTG	0.587																																						dbGAP											0													161.0	147.0	152.0					10																	98763829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3861G>A	10.37:g.98763829C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EGF-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.V1287	ENST00000266058.4	37	c.3861	CCDS7453.1	10																																																																																			SLIT1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000187122		0.587	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	85	0.00	0	C	NM_003061		98763829	98763829	-1	no_errors	ENST00000266058	ensembl	human	known	69_37n	silent	43	39.44	28	SNP	1.000	T
SLIT3	6586	genome.wustl.edu	37	5	168135106	168135106	+	Splice_Site	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:168135106C>A	ENST00000519560.1	-	26	3139		c.e26-1		CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.G914W|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000404867.3_Splice_Site	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCACTGGCCCTGGGCAGCAA	0.612																																					Ovarian(29;311 847 10864 17279 24903)	dbGAP											0													132.0	94.0	107.0					5																	168135106		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2720-1G>T	5.37:g.168135106C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8U9|J3KNP3|O95804|Q9UFH5	Splice_Site	SNP	-	e26-1	ENST00000519560.1	37	c.2720-1	CCDS4369.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.232198|4.232198	0.79688|0.79688	.|.	.|.	ENSG00000184347|ENSG00000184347	ENST00000519560;ENST00000404867|ENST00000332966	.|T	.|0.78246	.|-1.16	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|.	.|.	.|.	.|.	.|D	.|0.84705	.|0.5531	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.84350	.|0.0532	.|5	.|.	.|.	.|.	.|.	18.194|18.194	0.89815|0.89815	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|W	-1|914	.|ENSP00000332164:G914W	.|.	.|G	-|-	.|1	.|0	SLIT3|SLIT3	168067684|168067684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	7.818000|7.818000	0.86416|0.86416	2.296000|2.296000	0.77279|0.77279	0.585000|0.585000	0.79938|0.79938	.|GGG	SLIT3	-	-	ENSG00000184347		0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	33	0.00	0	C	NM_003062	Intron	168135106	168135106	-1	no_errors	ENST00000519560	ensembl	human	known	69_37n	splice_site	27	41.30	19	SNP	1.000	A
SLX4	84464	genome.wustl.edu	37	16	3639839	3639839	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:3639839C>T	ENST00000294008.3	-	12	4440	c.3800G>A	c.(3799-3801)cGt>cAt	p.R1267H		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1267	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGAACAGTCACGGCTTCTGCT	0.662								Direct reversal of damage																														dbGAP											0													59.0	61.0	60.0					16																	3639839		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3800G>A	16.37:g.3639839C>T	ENSP00000294008:p.Arg1267His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R1267H	ENST00000294008.3	37	c.3800	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124563	0.37533	.	.	ENSG00000188827	ENST00000294008	T	0.26810	1.71	6.07	3.8	0.43715	.	0.616684	0.16090	N	0.230120	T	0.25494	0.0620	M	0.61703	1.905	0.09310	N	1	B	0.29955	0.263	B	0.24701	0.055	T	0.10590	-1.0623	10	0.33141	T	0.24	.	11.432	0.50047	0.0:0.8361:0.0:0.1639	.	1267	Q8IY92	SLX4_HUMAN	H	1267	ENSP00000294008:R1267H	ENSP00000294008:R1267H	R	-	2	0	SLX4	3579840	0.228000	0.23718	0.101000	0.21167	0.008000	0.06430	0.569000	0.23638	1.571000	0.49722	0.655000	0.94253	CGT	SLX4	-	NULL	ENSG00000188827		0.662	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	32	0.00	0	C	NM_032444		3639839	3639839	-1	no_errors	ENST00000294008	ensembl	human	known	69_37n	missense	34	42.37	25	SNP	0.105	T
SMAD4	4089	genome.wustl.edu	37	18	48584514	48584514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:48584514delG	ENST00000342988.3	+	6	1225	c.687delG	c.(685-687)ctgfs	p.L229fs	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.L229fs|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	229					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCAGTATACTGGGGGGCAGCC	0.443																																						dbGAP											38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)											67.0	63.0	64.0					18																	48584514		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.687delG	18.37:g.48584514delG	ENSP00000341551:p.Leu229fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K405	Frame_Shift_Del	DEL	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.G231fs	ENST00000342988.3	37	c.687	CCDS11950.1	18																																																																																			SMAD4	-	NULL	ENSG00000141646		0.443	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	202	0.00	0	G	NM_005359		48584514	48584514	+1	no_errors	ENST00000342988	ensembl	human	known	69_37n	frame_shift_del	39	57.55	61	DEL	1.000	-
SMARCA2	6595	genome.wustl.edu	37	9	2060958	2060960	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:2060958_2060960delAGA	ENST00000382203.1	+	9	1873_1875	c.1664_1666delAGA	c.(1663-1668)gagaag>gag	p.K558del	SMARCA2_ENST00000349721.2_In_Frame_Del_p.K558del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.K558del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.K558del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	558					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAGCCaaagagaagaagaagag	0.502																																						dbGAP											0									,	1,4263		0,1,2131					,	5.2	1.0			59	1,8253		0,1,4126	no	coding,coding	SMARCA2	NM_139045.2,NM_003070.3	,	0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016	,	,		2,12516				-	-	-	SO:0001651	inframe_deletion	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1664_1666delAGA	9.37:g.2060967_2060969delAGA	ENSP00000371638:p.Lys558del	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.K558in_frame_del	ENST00000382203.1	37	c.1664_1666	CCDS34977.1	9																																																																																			SMARCA2	-	NULL	ENSG00000080503		0.502	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	47	0.00	0	AGA	NM_003070		2060958	2060960	+1	no_errors	ENST00000349721	ensembl	human	known	69_37n	in_frame_del	55	15.15	10	DEL	1.000:0.993:1.000	-
SMARCAL1	50485	genome.wustl.edu	37	2	217315650	217315650	+	Missense_Mutation	SNP	C	C	T	rs119473037		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:217315650C>T	ENST00000357276.4	+	12	2263	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R645C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	645			R -> C (in SIOD). {ECO:0000269|PubMed:11799392}.		cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CATGCTGCGGCGCCTCAAGTC	0.602									Schimke Immuno-Osseous Dysplasia																													dbGAP											0			GRCh37	CM020313	SMARCAL1	M	rs119473037						63.0	61.0	62.0					2																	217315650		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1933C>T	2.37:g.217315650C>T	ENSP00000349823:p.Arg645Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	pfam_HARP,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R645C	ENST00000357276.4	37	c.1933	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905865	0.92107	.	.	ENSG00000138375	ENST00000357276;ENST00000358207;ENST00000392128	D;D;D	0.99961	-9.38;-9.38;-9.38	5.32	5.32	0.75619	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99273	4.495	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97764	1.0222	9	0.87932	D	0	-14.1219	18.0562	0.89365	0.0:1.0:0.0:0.0	.	645	Q9NZC9	SMAL1_HUMAN	C	645;645;487	ENSP00000349823:R645C;ENSP00000350940:R645C;ENSP00000375974:R487C	ENSP00000349823:R645C	R	+	1	0	SMARCAL1	217023895	1.000000	0.71417	0.971000	0.41717	0.848000	0.48234	6.004000	0.70709	2.483000	0.83821	0.644000	0.83932	CGC	SMARCAL1	-	pfam_SNF2_N	ENSG00000138375		0.602	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	53	0.00	0	C			217315650	217315650	+1	no_errors	ENST00000357276	ensembl	human	known	69_37n	missense	41	46.75	36	SNP	1.000	T
SMARCC1	6599	genome.wustl.edu	37	3	47703876	47703877	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:47703876_47703877insA	ENST00000254480.5	-	20	2224_2225	c.2105_2106insT	c.(2104-2106)ttgfs	p.L702fs	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	702					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CCACAGATGCCAAAAAAGCAAC	0.495																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2106dupT	3.37:g.47703882_47703882dupA	ENSP00000254480:p.Leu702fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RS0|Q6P172|Q8IWH2	Frame_Shift_Ins	INS	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.L702fs	ENST00000254480.5	37	c.2106_2105	CCDS2758.1	3																																																																																			SMARCC1	-	NULL	ENSG00000173473		0.495	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	40	0.00	0	-			47703876	47703877	-1	no_errors	ENST00000254480	ensembl	human	known	69_37n	frame_shift_ins	10	62.96	17	INS	1.000:1.000	A
SMC6	79677	genome.wustl.edu	37	2	17884469	17884469	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:17884469A>G	ENST00000448223.2	-	19	2366	c.2097T>C	c.(2095-2097)aaT>aaC	p.N699N	SMC6_ENST00000351948.4_Silent_p.N699N|SMC6_ENST00000381272.4_Silent_p.N725N|SMC6_ENST00000402989.1_Silent_p.N699N	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	699					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAGTTCCTCATTGTGTTTAA	0.303																																						dbGAP											0													76.0	77.0	77.0					2																	17884469		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2097T>C	2.37:g.17884469A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	NULL	p.N725	ENST00000448223.2	37	c.2175	CCDS1690.1	2																																																																																			SMC6	-	NULL	ENSG00000163029		0.303	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	153	0.00	0	A	NM_024624		17884469	17884469	-1	no_errors	ENST00000381272	ensembl	human	known	69_37n	silent	74	45.65	63	SNP	0.999	G
SMEK1	55671	genome.wustl.edu	37	14	91927860	91927860	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:91927860delC	ENST00000554943.1	-	14	2371	c.2256delG	c.(2254-2256)acgfs	p.T752fs	SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Frame_Shift_Del_p.T513fs|SMEK1_ENST00000337238.4_Frame_Shift_Del_p.T739fs|SMEK1_ENST00000428424.2_Frame_Shift_Del_p.T513fs|SMEK1_ENST00000554684.1_Frame_Shift_Del_p.T739fs			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	752					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGTTAGTCTTCGTTCCACTGG	0.488																																						dbGAP											0													160.0	167.0	164.0					14																	91927860		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.2256delG	14.37:g.91927860delC	ENSP00000450883:p.Thr752fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Frame_Shift_Del	DEL	pfam_DUF625,superfamily_ARM-type_fold	p.K753fs	ENST00000554943.1	37	c.2256		14																																																																																			SMEK1	-	NULL	ENSG00000100796		0.488	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	334	0.00	0	C	NM_032560		91927860	91927860	-1	no_errors	ENST00000554943	ensembl	human	known	69_37n	frame_shift_del	173	40.65	126	DEL	0.999	-
SMEK2	57223	genome.wustl.edu	37	2	55844403	55844403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:55844403G>A	ENST00000345102.5	-	1	320	c.19C>T	c.(19-21)Cga>Tga	p.R7*	SMEK2_ENST00000272313.5_Nonsense_Mutation_p.R7*|RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000407823.3_Nonsense_Mutation_p.R7*	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	7	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTTCACTCGCCGCCGCGTA	0.627																																						dbGAP											0													60.0	50.0	53.0					2																	55844403		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.19C>T	2.37:g.55844403G>A	ENSP00000339769:p.Arg7*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Nonsense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.R7*	ENST00000345102.5	37	c.19	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.156333	0.98680	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	.	.	.	5.06	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1631	15.0046	0.71501	0.0:0.0:0.8564:0.1436	.	.	.	.	X	7	.	ENSP00000272313:R7X	R	-	1	2	SMEK2	55697907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.198000	0.72106	1.352000	0.45808	0.561000	0.74099	CGA	SMEK2	-	NULL	ENSG00000138041		0.627	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	37	0.00	0	G	NM_020463		55844403	55844403	-1	no_errors	ENST00000272313	ensembl	human	known	69_37n	nonsense	32	44.07	26	SNP	1.000	A
SMPD1	6609	genome.wustl.edu	37	11	6413286	6413286	+	Frame_Shift_Del	DEL	C	C	-	rs387906289|rs142476839		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:6413286delC	ENST00000342245.4	+	2	1159	c.991delC	c.(991-993)cccfs	p.P332fs	SMPD1_ENST00000356761.2_Frame_Shift_Del_p.P332fs|SMPD1_ENST00000527275.1_Frame_Shift_Del_p.P331fs|SMPD1_ENST00000299397.3_Frame_Shift_Del_p.P332fs|SMPD1_ENST00000533196.1_3'UTR	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	330					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.P331S(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TAGCTTCCCTCCCCCCTTCAT	0.612																																						dbGAP											2	Substitution - Missense(2)	urinary_tract(2)											77.0	70.0	72.0					11																	6413286		2201	4296	6497	-	-	-	SO:0001589	frameshift_variant	0			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.991delC	11.37:g.6413286delC	ENSP00000340409:p.Pro332fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Frame_Shift_Del	DEL	pirsf_Sphingomy_PDE,pfam_Metallo_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.F333fs	ENST00000342245.4	37	c.991	CCDS44531.1	11																																																																																			SMPD1	-	pirsf_Sphingomy_PDE,pfam_Metallo_PEstase_dom	ENSG00000166311		0.612	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	106	0.00	0	C	NM_000543		6413286	6413286	+1	no_errors	ENST00000342245	ensembl	human	known	69_37n	frame_shift_del	67	36.11	39	DEL	1.000	-
SMYD1	150572	genome.wustl.edu	37	2	88390630	88390630	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:88390630C>T	ENST00000419482.2	+	4	713	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	SMYD1_ENST00000444564.2_Missense_Mutation_p.P210S|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	210	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGACTGTTGGCCCAACTGTAC	0.507																																						dbGAP											0													183.0	171.0	175.0					2																	88390630		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.628C>T	2.37:g.88390630C>T	ENSP00000393453:p.Pro210Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.P210S	ENST00000419482.2	37	c.628	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.125809	0.94429	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	D;D	0.85556	-2.0;-2.0	5.31	5.31	0.75309	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93450	0.6801	10	0.87932	D	0	-17.9728	18.3263	0.90255	0.0:1.0:0.0:0.0	.	210	Q8NB12	SMYD1_HUMAN	S	210;210;44	ENSP00000393453:P210S;ENSP00000407888:P210S	ENSP00000295833:P44S	P	+	1	0	SMYD1	88171745	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.388000	0.79795	2.635000	0.89317	0.561000	0.74099	CCC	SMYD1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000115593		0.507	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	210	0.00	0	C	XM_097915		88390630	88390630	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	missense	110	45.32	92	SNP	1.000	T
SND1	27044	genome.wustl.edu	37	7	127343285	127343285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:127343285delT	ENST00000354725.3	+	7	942	c.748delT	c.(748-750)tttfs	p.F251fs		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	251	TNase-like 2. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGAAGCCAAATTTTTCACTGA	0.488																																						dbGAP											0													121.0	109.0	113.0					7																	127343285		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.748delT	7.37:g.127343285delT	ENSP00000346762:p.Phe251fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13122|Q96AG0	Frame_Shift_Del	DEL	pfam_Staphylococcal_nuclease,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococcal_nuclease	p.F251fs	ENST00000354725.3	37	c.748	CCDS34747.1	7																																																																																			SND1	-	pfam_Staphylococcal_nuclease,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococcal_nuclease,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococcal_nuclease	ENSG00000197157		0.488	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	183	0.00	0	T	NM_014390		127343285	127343285	+1	no_errors	ENST00000354725	ensembl	human	known	69_37n	frame_shift_del	156	36.51	92	DEL	1.000	-
SNHG14	104472715	genome.wustl.edu	37	15	25438313	25438314	+	RNA	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:25438313_25438314insA	ENST00000424208.1	+	0	1172_1173				SNHG14_ENST00000363358.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAATTGGTCCCAATGGTCCCAG	0.589																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438315_25438315dupA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.589	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	28	0.00	0	-			25438313	25438314	+1	no_errors	ENST00000414175	ensembl	human	known	69_37n	rna	11	47.62	10	INS	0.004:0.003	A
SNHG14	104472715	genome.wustl.edu	37	15	25446524	25446524	+	RNA	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:25446524C>T	ENST00000424208.1	+	0	1988				SNORD115-17_ENST00000364612.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNORD115-19_ENST00000363098.1_RNA|SNORD115-18_ENST00000363293.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACTTAAAAATCATTCTCAAAA	0.493																																						dbGAP											0													301.0	307.0	305.0					15																	25446524		876	1991	2867	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25446524C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-17	-	-	ENSG00000201482		0.493	SNHG14-002	KNOWN	basic	antisense	SNORD115-17	HGNC	processed_transcript	OTTHUMT00000126729.2	95	0.00	0	C			25446524	25446524	+1	no_errors	ENST00000364612	ensembl	human	known	69_37n	rna	48	46.07	41	SNP	0.927	T
SNHG14	104472715	genome.wustl.edu	37	15	25472102	25472102	+	RNA	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:25472102A>G	ENST00000453082.2	+	0	1144				SNORD115-31_ENST00000365318.1_RNA|SNORD115-30_ENST00000364117.1_RNA|SNORD115-32_ENST00000364079.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGGCCCACTATCCCTGGGCC	0.622																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25472102A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.622	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126730.2	18	0.00	0	A			25472102	25472102	+1	no_errors	ENST00000453082	ensembl	human	known	69_37n	rna	21	41.67	15	SNP	0.071	G
RPL37	6167	genome.wustl.edu	37	5	40832813	40832814	+	Intron	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:40832813_40832814insT	ENST00000274242.5	-	4	374				RPL37_ENST00000509877.1_Intron|SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000504562.1_Intron	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(3)|ovary(1)	4		Breast(839;0.238)				TCAGACATTTATTTTTACAACA	0.302																																					Colon(188;1411 2035 4978 19588 31462)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"""L ribosomal proteins"""	10347	protein-coding gene	gene with protein product	"""60S ribosomal protein L37a"""	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.225-138->A	5.37:g.40832818_40832818dupT		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4H2|P02403|Q6IBB4|Q99883	RNA	INS	-	NULL	ENST00000274242.5	37	NULL	CCDS3934.1	5																																																																																			SNORD72	-	-	ENSG00000212296		0.302	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNORD72	HGNC	protein_coding	OTTHUMT00000211583.2	100	0.00	0	-	NM_000997		40832813	40832814	-1	no_errors	ENST00000390994	ensembl	human	known	69_37n	rna	61	32.97	30	INS	0.958:0.928	T
SNRPA	6626	genome.wustl.edu	37	19	41263309	41263309	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:41263309T>C	ENST00000243563.3	+	2	696	c.146T>C	c.(145-147)cTg>cCg	p.L49P	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	49	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCACGGAGCCTGAAGATGAGG	0.527																																						dbGAP											0													70.0	66.0	67.0					19																	41263309		2203	4300	6503	-	-	-	SO:0001583	missense	0			X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.146T>C	19.37:g.41263309T>C	ENSP00000243563:p.Leu49Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L49P	ENST00000243563.3	37	c.146	CCDS12565.1	19	.	.	.	.	.	.	.	.	.	.	T	15.22	2.770309	0.49680	.	.	ENSG00000077312	ENST00000243563	T	0.05580	3.42	5.8	5.8	0.92144	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.310935	0.31246	N	0.007991	T	0.05135	0.0137	N	0.16098	0.37	0.80722	D	1	B	0.06786	0.001	B	0.17722	0.019	T	0.46582	-0.9181	10	0.33940	T	0.23	-28.0747	13.6782	0.62467	0.0:0.0:0.0:1.0	.	49	P09012	SNRPA_HUMAN	P	49	ENSP00000243563:L49P	ENSP00000243563:L49P	L	+	2	0	SNRPA	45955149	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.882000	0.87258	2.209000	0.71365	0.533000	0.62120	CTG	SNRPA	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000077312		0.527	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPA	HGNC	protein_coding	OTTHUMT00000463118.2	58	0.00	0	T	NM_004596		41263309	41263309	+1	no_errors	ENST00000243563	ensembl	human	known	69_37n	missense	55	35.29	30	SNP	1.000	C
SNX14	57231	genome.wustl.edu	37	6	86216976	86216976	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:86216976T>C	ENST00000314673.3	-	28	2953	c.2777A>G	c.(2776-2778)cAg>cGg	p.Q926R	SNX14_ENST00000369627.2_Missense_Mutation_p.Q917R|SNX14_ENST00000346348.3_Missense_Mutation_p.Q873R|SNX14_ENST00000505648.1_Missense_Mutation_p.Q874R|SNX14_ENST00000513865.1_Missense_Mutation_p.Q645R|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	926					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAACAGTTCCTGTATCACAAT	0.284																																						dbGAP											0													62.0	64.0	64.0					6																	86216976		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2777A>G	6.37:g.86216976T>C	ENSP00000313121:p.Gln926Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.Q926R	ENST00000314673.3	37	c.2777	CCDS5004.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.25|12.25	1.880277|1.880277	0.33162|0.33162	.|.	.|.	ENSG00000135317|ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627|ENST00000508658	T;T;T;T;T|.	0.31769|.	1.9;1.89;1.48;1.9;1.89|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.052713|.	0.85682|.	D|.	0.000000|.	T|T	0.40423|0.40423	0.1116|0.1116	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.99999|0.99999	P;P;B;B|.	0.43352|.	0.515;0.804;0.381;0.061|.	B;B;B;B|.	0.39840|.	0.156;0.311;0.075;0.1|.	T|T	0.36261|0.36261	-0.9755|-0.9755	10|5	0.11485|.	T|.	0.65|.	-1.2992|-1.2992	14.9186|14.9186	0.70818|0.70818	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	917;873;926;874|.	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3|.	.;.;SNX14_HUMAN;.|.	R|G	873;328;926;645;874;917|165	ENSP00000257769:Q873R;ENSP00000313121:Q926R;ENSP00000420938:Q645R;ENSP00000427380:Q874R;ENSP00000358641:Q917R|.	ENSP00000313121:Q926R|.	Q|R	-|-	2|1	0|2	SNX14|SNX14	86273695|86273695	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	5.389000|5.389000	0.66255|0.66255	1.988000|1.988000	0.58038|0.58038	0.528000|0.528000	0.53228|0.53228	CAG|AGG	SNX14	-	NULL	ENSG00000135317		0.284	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	72	0.00	0	T	NM_153816		86216976	86216976	-1	no_errors	ENST00000314673	ensembl	human	known	69_37n	missense	43	44.16	34	SNP	1.000	C
SNX29	92017	genome.wustl.edu	37	16	12450109	12450109	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:12450109G>A	ENST00000566228.1	+	16	1941	c.1872G>A	c.(1870-1872)agG>agA	p.R624R	SNX29_ENST00000323433.4_Silent_p.R239R|SNX29_ENST00000306030.3_Silent_p.R239R	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	624						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CCCAGATGAGGCAGGAGCTCA	0.587																																						dbGAP											0													32.0	36.0	35.0					16																	12450109		1974	4161	6135	-	-	-	SO:0001819	synonymous_variant	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1872G>A	16.37:g.12450109G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R239	ENST00000566228.1	37	c.717	CCDS10553.2	16																																																																																			SNX29	-	NULL	ENSG00000048471		0.587	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	38	0.00	0	G			12450109	12450109	+1	no_errors	ENST00000306030	ensembl	human	known	69_37n	silent	25	44.44	20	SNP	0.994	A
SOS1	6654	genome.wustl.edu	37	2	39237796	39237796	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:39237796G>A	ENST00000426016.1	-	16	2525	c.2439C>T	c.(2437-2439)gaC>gaT	p.D813D	SOS1_ENST00000395038.2_Silent_p.D813D|SOS1_ENST00000402219.2_Silent_p.D813D			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	813	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAATTTCTTTGTCTTCTTTTG	0.333									Noonan syndrome																													dbGAP											0													131.0	125.0	127.0					2																	39237796		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2439C>T	2.37:g.39237796G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G3|B4DXG2	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D813	ENST00000426016.1	37	c.2439	CCDS1802.1	2																																																																																			SOS1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000115904		0.333	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	161	0.00	0	G	NM_005633		39237796	39237796	-1	no_errors	ENST00000402219	ensembl	human	known	69_37n	silent	100	11.50	13	SNP	1.000	A
SOX13	9580	genome.wustl.edu	37	1	204082087	204082087	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:204082087G>A	ENST00000367204.1	+	2	153	c.44G>A	c.(43-45)gGc>gAc	p.G15D	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	15					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCCCTGGATGGCGTTGGCACC	0.617																																						dbGAP											0													31.0	36.0	34.0					1																	204082087		2025	4187	6212	-	-	-	SO:0001583	missense	0				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.44G>A	1.37:g.204082087G>A	ENSP00000356172:p.Gly15Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.G15D	ENST00000367204.1	37	c.44	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510288	0.44660	.	.	ENSG00000143842	ENST00000367204;ENST00000525442;ENST00000528591	D	0.98090	-4.71	5.36	4.43	0.53597	.	.	.	.	.	D	0.95893	0.8663	L	0.54323	1.7	0.25581	N	0.986799	B	0.06786	0.001	B	0.08055	0.003	D	0.91958	0.5576	9	0.87932	D	0	.	11.2559	0.49054	0.0889:0.0:0.9111:0.0	.	15	Q9UN79	SOX13_HUMAN	D	15	ENSP00000356172:G15D	ENSP00000356172:G15D	G	+	2	0	SOX13	202348710	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.682000	0.61671	1.215000	0.43411	0.585000	0.79938	GGC	SOX13	-	NULL	ENSG00000143842		0.617	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2	19	0.00	0	G	NM_005686		204082087	204082087	+1	no_errors	ENST00000367204	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	0.996	A
SOX2	6657	genome.wustl.edu	37	3	181430614	181430614	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:181430614C>T	ENST00000325404.1	+	1	893	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	SOX2_ENST00000431565.2_Missense_Mutation_p.R156C	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	156					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CGTGAACCAGCGCATGGACAG	0.697			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															dbGAP		Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													13.0	14.0	13.0					3																	181430614		2194	4292	6486	-	-	-	SO:0001583	missense	0			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.466C>T	3.37:g.181430614C>T	ENSP00000323588:p.Arg156Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14537	Missense_Mutation	SNP	pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R156C	ENST00000325404.1	37	c.466	CCDS3239.1	3	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007808	0.54361	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.96940	-4.18;-4.18	5.27	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97649	1.0153	10	0.66056	D	0.02	.	11.3188	0.49407	0.3203:0.6797:0.0:0.0	.	156	P48431	SOX2_HUMAN	C	156	ENSP00000439111:R156C;ENSP00000323588:R156C	ENSP00000323588:R156C	R	+	1	0	SOX2	182913308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.524000	0.35942	2.597000	0.87782	0.585000	0.79938	CGC	SOX2	-	pfam_TF_SOX	ENSG00000181449		0.697	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1	25	0.00	0	C	NM_003106		181430614	181430614	+1	no_errors	ENST00000325404	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	T
SOX3	6658	genome.wustl.edu	37	X	139586632	139586632	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:139586632C>T	ENST00000370536.2	-	1	593	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	198					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCTTCATGTGCACGGCGCGAA	0.592																																						dbGAP											0													67.0	59.0	62.0					X																	139586632		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.594G>A	X.37:g.139586632C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P35714|Q5JWI3|Q9NP49	Silent	SNP	pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V198	ENST00000370536.2	37	c.594	CCDS14669.1	X																																																																																			SOX3	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000134595		0.592	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	HGNC	protein_coding	OTTHUMT00000058577.1	79	0.00	0	C			139586632	139586632	-1	no_errors	ENST00000370536	ensembl	human	known	69_37n	silent	52	30.67	23	SNP	1.000	T
SOX9	6662	genome.wustl.edu	37	17	70119910	70119910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:70119910delG	ENST00000245479.2	+	3	1284	c.912delG	c.(910-912)ccgfs	p.P304fs		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	304					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACGGCCACCCGGGGGTGCCGG	0.677																																					Pancreas(42;83 1041 2320 35205 39456)	dbGAP											0													32.0	29.0	30.0					17																	70119910		2200	4300	6500	-	-	-	SO:0001589	frameshift_variant	0			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.912delG	17.37:g.70119910delG	ENSP00000245479:p.Pro304fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y80	Frame_Shift_Del	DEL	pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V306fs	ENST00000245479.2	37	c.912	CCDS11689.1	17																																																																																			SOX9	-	NULL	ENSG00000125398		0.677	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX9	HGNC	protein_coding	OTTHUMT00000389032.1	28	0.00	0	G	NM_000346		70119910	70119910	+1	no_errors	ENST00000245479	ensembl	human	known	69_37n	frame_shift_del	24	34.21	13	DEL	0.153	-
SPAG5	10615	genome.wustl.edu	37	17	26925493	26925493	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:26925493C>T	ENST00000321765.5	-	2	510				SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000556050.1_RNA	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5						chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CCTGGGCAAACAGCCCAGTCG	0.527																																						dbGAP											0													21.0	23.0	22.0					17																	26925493		2203	4298	6501	-	-	-	SO:0001627	intron_variant	0			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.177+34G>A	17.37:g.26925493C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.C71Y	ENST00000321765.5	37	c.212	CCDS32594.1	17																																																																																			SPAG5	-	NULL	ENSG00000076382		0.527	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	20	0.00	0	C	NM_006461		26925493	26925493	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000536674	ensembl	human	novel	69_37n	missense	14	48.15	13	SNP	0.009	T
SPATA13	221178	genome.wustl.edu	37	13	24860363	24860363	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:24860363T>C	ENST00000382095.4	+	5	845	c.438T>C	c.(436-438)gaT>gaC	p.D146D	RP11-307N16.6_ENST00000382141.4_Silent_p.D649D|SPATA13_ENST00000343003.6_Silent_p.D90D|SPATA13_ENST00000382108.3_Silent_p.D771D|SPATA13_ENST00000424834.2_Silent_p.D771D|SPATA13_ENST00000399949.2_Silent_p.D68D|SPATA13_ENST00000409126.1_Silent_p.D68D	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	146	ABR (APC-binding region) domain.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGATCAGTGATGGCAACGTGG	0.587																																						dbGAP											0													130.0	120.0	124.0					13																	24860363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.438T>C	13.37:g.24860363T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.W687R	ENST00000382095.4	37	c.2059	CCDS9305.1	13	.	.	.	.	.	.	.	.	.	.	T	0.992	-0.693746	0.03303	.	.	ENSG00000182957	ENST00000424834	D	0.98968	-5.28	5.25	1.54	0.23209	.	.	.	.	.	D	0.97714	0.9250	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.95136	0.8259	5	.	.	.	.	8.3239	0.32145	0.0:0.2281:0.0:0.7719	.	.	.	.	R	809	ENSP00000398560:W809R	.	W	+	1	0	SPATA13	23758363	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	2.332000	0.43903	0.327000	0.23409	-0.912000	0.02778	TGG	SPATA13	-	superfamily_SH3_domain	ENSG00000182957		0.587	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	125	0.00	0	T	NM_153023		24860363	24860363	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000382141	ensembl	human	known	69_37n	missense	56	45.19	47	SNP	1.000	C
SPATS2	65244	genome.wustl.edu	37	12	49919801	49919801	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:49919801A>G	ENST00000553127.1	+	15	1914	c.1401A>G	c.(1399-1401)caA>caG	p.Q467Q	SPATS2_ENST00000552918.1_Silent_p.Q467Q|SPATS2_ENST00000321898.6_Silent_p.Q467Q			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	467						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CCATGAACCAAGGGCGGCATG	0.493																																						dbGAP											0													137.0	111.0	120.0					12																	49919801		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1401A>G	12.37:g.49919801A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Silent	SNP	pfam_DUF1387,superfamily_UBA-like	p.Q467	ENST00000553127.1	37	c.1401	CCDS31794.1	12																																																																																			SPATS2	-	NULL	ENSG00000123352		0.493	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2	HGNC	protein_coding	OTTHUMT00000404023.1	121	0.00	0	A	NM_023071		49919801	49919801	+1	no_errors	ENST00000321898	ensembl	human	known	69_37n	silent	83	30.33	37	SNP	1.000	G
SPATS2L	26010	genome.wustl.edu	37	2	201334654	201334654	+	Silent	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:201334654T>A	ENST00000358677.5	+	11	1222	c.975T>A	c.(973-975)cgT>cgA	p.R325R	SPATS2L_ENST00000409755.3_Silent_p.R355R|SPATS2L_ENST00000409151.1_Silent_p.R333R|SPATS2L_ENST00000409140.3_Silent_p.R325R|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000451764.2_Silent_p.R325R|SPATS2L_ENST00000409385.1_Silent_p.R265R|SPATS2L_ENST00000409988.3_Silent_p.R325R|SPATS2L_ENST00000360760.5_Silent_p.R256R|SPATS2L_ENST00000409718.1_Silent_p.R325R	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	325						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TCAGCGAGCGTAAATATGACG	0.502																																						dbGAP											0													58.0	56.0	57.0					2																	201334654		1900	4127	6027	-	-	-	SO:0001819	synonymous_variant	0			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.975T>A	2.37:g.201334654T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	pfam_DUF1387,superfamily_UBA-like	p.R355	ENST00000358677.5	37	c.1065	CCDS46483.1	2																																																																																			SPATS2L	-	pfam_DUF1387	ENSG00000196141		0.502	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3	34	0.00	0	T	NM_015535		201334654	201334654	+1	no_errors	ENST00000409755	ensembl	human	known	69_37n	silent	10	56.52	13	SNP	0.994	A
SPEN	23013	genome.wustl.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R806fs	ENST00000375759.3	37	c.2407_2408	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	328	0.30	1	GA	NM_015001		16255142	16255143	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_del	230	33.97	125	DEL	0.999:1.000	-
SPEN	23013	genome.wustl.edu	37	1	16260966	16260966	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:16260966G>A	ENST00000375759.3	+	11	8435	c.8231G>A	c.(8230-8232)gGt>gAt	p.G2744D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2744	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTCACAGCGGGTGCGGTTACT	0.602																																						dbGAP											0													80.0	72.0	75.0					1																	16260966		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8231G>A	1.37:g.16260966G>A	ENSP00000364912:p.Gly2744Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.G2744D	ENST00000375759.3	37	c.8231	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	7.572	0.666923	0.14710	.	.	ENSG00000065526	ENST00000375759	T	0.11495	2.77	3.39	0.239	0.15484	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	P	0.45348	0.856	B	0.40444	0.329	T	0.39563	-0.9608	9	0.25106	T	0.35	-5.1942	6.287	0.21039	0.0:0.3749:0.429:0.1961	.	2744	Q96T58	MINT_HUMAN	D	2744	ENSP00000364912:G2744D	ENSP00000364912:G2744D	G	+	2	0	SPEN	16133553	0.632000	0.27172	0.002000	0.10522	0.830000	0.47004	2.258000	0.43249	0.061000	0.16311	0.561000	0.74099	GGT	SPEN	-	NULL	ENSG00000065526		0.602	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	90	0.00	0	G	NM_015001		16260966	16260966	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	56	41.67	40	SNP	0.014	A
SPG20	23111	genome.wustl.edu	37	13	36905608	36905608	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:36905608G>T	ENST00000451493.1	-	3	1153	c.936C>A	c.(934-936)tcC>tcA	p.S312S	SPG20_ENST00000494062.2_Silent_p.S312S|SPG20_ENST00000438666.2_Silent_p.S312S|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Silent_p.S312S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	312					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GTAACTCAGAGGACAGGACGA	0.478																																						dbGAP											0													122.0	114.0	117.0					13																	36905608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.936C>A	13.37:g.36905608G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.S312	ENST00000451493.1	37	c.936	CCDS9356.1	13																																																																																			SPG20	-	NULL	ENSG00000133104		0.478	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	225	0.00	0	G			36905608	36905608	-1	no_errors	ENST00000355182	ensembl	human	known	69_37n	silent	140	37.50	84	SNP	0.994	T
SPHKAP	80309	genome.wustl.edu	37	2	228855894	228855894	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:228855894G>T	ENST00000392056.3	-	11	4827	c.4781C>A	c.(4780-4782)gCa>gAa	p.A1594E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1565E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1594						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGGTCCAGATGCAGGTGCTGA	0.562																																						dbGAP											0													71.0	68.0	69.0					2																	228855894		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4781C>A	2.37:g.228855894G>T	ENSP00000375909:p.Ala1594Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.A1594E	ENST00000392056.3	37	c.4781	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	6.159	0.397552	0.11638	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06933	3.24;3.24	6.17	4.34	0.51931	A-kinase anchor 110kDa, C-terminal (1);	0.487515	0.22747	N	0.056134	T	0.11067	0.0270	L	0.44542	1.39	0.09310	N	1	P;P	0.39424	0.669;0.673	B;B	0.43889	0.435;0.242	T	0.08743	-1.0707	10	0.48119	T	0.1	.	10.466	0.44607	0.0685:0.0:0.7884:0.1431	.	1594;1565	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	E	1594;1565	ENSP00000375909:A1594E;ENSP00000339886:A1565E	ENSP00000339886:A1565E	A	-	2	0	SPHKAP	228564138	0.933000	0.31639	0.004000	0.12327	0.004000	0.04260	2.351000	0.44071	0.885000	0.36088	0.655000	0.94253	GCA	SPHKAP	-	pfam_AKAP_110_C	ENSG00000153820		0.562	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	156	0.00	0	G	NM_030623		228855894	228855894	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	64	48.80	61	SNP	0.018	T
SPI1	6688	genome.wustl.edu	37	11	47376990	47376990	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:47376990A>G	ENST00000378538.3	-	5	823	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	MYBPC3_ENST00000545968.1_5'Flank|MYBPC3_ENST00000399249.2_5'Flank|SPI1_ENST00000533030.1_3'UTR|SPI1_ENST00000227163.4_Missense_Mutation_p.F202L|MYBPC3_ENST00000256993.4_5'Flank	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	201					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TTGGACGAGAACTGGAAGGTG	0.612																																						dbGAP											0													94.0	82.0	86.0					11																	47376990		2201	4298	6499	-	-	-	SO:0001583	missense	0			X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.601T>C	11.37:g.47376990A>G	ENSP00000367799:p.Phe201Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.F202L	ENST00000378538.3	37	c.604	CCDS7933.2	11	.	.	.	.	.	.	.	.	.	.	a	35	5.441080	0.96187	.	.	ENSG00000066336	ENST00000378538;ENST00000227163	T;T	0.67345	-0.26;-0.26	4.23	4.23	0.50019	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.68072	0.2961	L	0.35854	1.095	0.80722	D	1	P;D	0.58970	0.95;0.984	P;P	0.57502	0.822;0.701	T	0.65364	-0.6186	10	0.27785	T	0.31	-12.7162	13.6626	0.62376	1.0:0.0:0.0:0.0	.	201;202	P17947;P17947-2	SPI1_HUMAN;.	L	201;202	ENSP00000367799:F201L;ENSP00000227163:F202L	ENSP00000227163:F202L	F	-	1	0	SPI1	47333566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.017000	0.76399	1.675000	0.50919	0.393000	0.25936	TTC	SPI1	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000066336		0.612	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPI1	HGNC	protein_coding	OTTHUMT00000316571.1	31	0.00	0	A	NM_003120		47376990	47376990	-1	no_errors	ENST00000227163	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	G
SPICE1	152185	genome.wustl.edu	37	3	113172493	113172493	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:113172493C>T	ENST00000295872.4	-	14	2221	c.1962G>A	c.(1960-1962)caG>caA	p.Q654Q		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	654					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTCTCAGCTGCTGCCCATCTC	0.433																																						dbGAP											0													148.0	151.0	150.0					3																	113172493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1962G>A	3.37:g.113172493C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN72|Q8WUX6	Silent	SNP	NULL	p.Q654	ENST00000295872.4	37	c.1962	CCDS2973.1	3																																																																																			SPICE1	-	NULL	ENSG00000163611		0.433	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	178	0.00	0	C	NM_144718		113172493	113172493	-1	no_errors	ENST00000295872	ensembl	human	known	69_37n	silent	87	47.90	80	SNP	0.162	T
SPPL2C	162540	genome.wustl.edu	37	17	43923771	43923771	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:43923771C>T	ENST00000329196.5	+	1	1516	c.1499C>T	c.(1498-1500)gCc>gTc	p.A500V	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	500						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GGCCAACCTGCCTTGCTCTAC	0.617																																						dbGAP											0													100.0	88.0	92.0					17																	43923771		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1499C>T	17.37:g.43923771C>T	ENSP00000332488:p.Ala500Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC67|Q8WVZ6	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22	p.A500V	ENST00000329196.5	37	c.1499	CCDS32673.1	17	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772372	0.90108	.	.	ENSG00000185294	ENST00000329196	T	0.45276	0.9	5.07	5.07	0.68467	.	0.153182	0.30347	N	0.009831	T	0.70107	0.3186	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76372	-0.2983	10	0.87932	D	0	-17.2471	15.9791	0.80094	0.0:1.0:0.0:0.0	.	500	Q8IUH8	IMP5_HUMAN	V	500	ENSP00000332488:A500V	ENSP00000332488:A500V	A	+	2	0	AC217771.1	41279551	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.457000	0.60088	2.617000	0.88574	0.655000	0.94253	GCC	SPPL2C	-	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	ENSG00000185294		0.617	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	132	0.00	0	C	NM_175882		43923771	43923771	+1	no_errors	ENST00000329196	ensembl	human	known	69_37n	missense	67	42.37	50	SNP	1.000	T
SPRTN	83932	genome.wustl.edu	37	1	231487140	231487140	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:231487140G>A	ENST00000295050.7	+	4	877	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	SPRTN_ENST00000008440.9_Missense_Mutation_p.G138S|SPRTN_ENST00000391858.4_Missense_Mutation_p.G181S|SPRTN_ENST00000469904.1_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	181	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										ACCGTATTACGGCTATGTCAA	0.517																																						dbGAP											0													67.0	67.0	67.0					1																	231487140		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.541G>A	1.37:g.231487140G>A	ENSP00000295050:p.Gly181Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put	p.G181S	ENST00000295050.7	37	c.541	CCDS1594.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544914	0.86022	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269;ENST00000366644	T;T;T	0.38722	1.12;1.12;1.12	5.74	5.74	0.90152	Domain of unknown function SprT-like (2);	0.043605	0.85682	D	0.000000	T	0.75903	0.3913	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80046	-0.1546	10	0.49607	T	0.09	-32.3106	20.2835	0.98531	0.0:0.0:1.0:0.0	.	138;181;181	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	S	181;181;138;138;77	ENSP00000375731:G181S;ENSP00000295050:G181S;ENSP00000355604:G77S	ENSP00000008440:G138S	G	+	1	0	C1orf124	229553763	1.000000	0.71417	0.968000	0.41197	0.033000	0.12548	9.813000	0.99286	2.873000	0.98535	0.643000	0.83706	GGC	SPRTN	-	pfam_SprT-like_domain,smart_SprT-like_domain	ENSG00000010072		0.517	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRTN	HGNC	protein_coding	OTTHUMT00000092858.1	88	0.00	0	G	NM_032018		231487140	231487140	+1	no_errors	ENST00000295050	ensembl	human	known	69_37n	missense	82	26.13	29	SNP	1.000	A
SPRY3	10251	genome.wustl.edu	37	X	155004221	155004221	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:155004221C>A	ENST00000302805.2	+	2	1119	c.688C>A	c.(688-690)Ctc>Atc	p.L230I		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	230	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTCATCTCCCTCTTCCTACC	0.592																																						dbGAP											0													229.0	207.0	214.0					X																	155004221		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.688C>A	X.37:g.155004221C>A	ENSP00000302978:p.Leu230Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H8	Missense_Mutation	SNP	pfam_Sprouty	p.L230I	ENST00000302805.2	37	c.688	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124142	0.20959	.	.	ENSG00000168939	ENST00000302805	T	0.69435	-0.4	2.94	2.04	0.26737	.	0.085018	0.48767	D	0.000163	T	0.47893	0.1470	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.25506	0.061	T	0.25950	-1.0117	9	0.29301	T	0.29	-21.1642	4.0345	0.09724	0.0:0.6093:0.2437:0.147	.	230	O43610	SPY3_HUMAN	I	230	ENSP00000302978:L230I	ENSP00000302978:L230I	L	+	1	0	SPRY3	154657415	0.995000	0.38212	1.000000	0.80357	0.973000	0.67179	1.728000	0.38105	0.432000	0.26286	0.279000	0.19357	CTC	SPRY3	-	pfam_Sprouty	ENSG00000168939		0.592	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	548	0.00	0	C	NM_005840		155004221	155004221	+1	no_errors	ENST00000302805	ensembl	human	known	69_37n	missense	328	38.96	210	SNP	1.000	A
SPTA1	6708	genome.wustl.edu	37	1	158590490	158590490	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:158590490C>T	ENST00000368147.4	-	44	6301					NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					agtctttcatcatttacaaat	0.333																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6121-234G>A	1.37:g.158590490C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	RNA	SNP	-	NULL	ENST00000368147.4	37	NULL	CCDS41423.1	1																																																																																			SPTA1	-	-	ENSG00000163554		0.333	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	11	0.00	0	C	NM_003126		158590490	158590490	-1	no_errors	ENST00000484520	ensembl	human	putative	69_37n	rna	10	47.37	9	SNP	0.000	T
SRCAP	10847	genome.wustl.edu	37	16	30749510	30749510	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:30749510G>A	ENST00000262518.4	+	34	8534	c.8149G>A	c.(8149-8151)Gcc>Acc	p.A2717T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2655T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2559T|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2717	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCTTCACCTGCCCGACCTCC	0.592																																						dbGAP											0													67.0	59.0	62.0					16																	30749510		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8149G>A	16.37:g.30749510G>A	ENSP00000262518:p.Ala2717Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.A2717T	ENST00000262518.4	37	c.8149	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030983	0.35797	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93133	-3.13;-3.17;-3.16	5.04	5.04	0.67666	.	0.127923	0.35739	N	0.003015	D	0.84428	0.5470	N	0.08118	0	0.22996	N	0.998459	B;B	0.15141	0.012;0.007	B;B	0.15052	0.012;0.005	T	0.75178	-0.3409	10	0.72032	D	0.01	-4.7819	9.3419	0.38085	0.0951:0.0:0.9049:0.0	.	2655;2717	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	2717;2655;2559	ENSP00000262518:A2717T;ENSP00000378499:A2655T;ENSP00000343042:A2559T	ENSP00000262518:A2717T	A	+	1	0	SRCAP	30657011	0.976000	0.34144	1.000000	0.80357	0.976000	0.68499	2.163000	0.42377	2.629000	0.89072	0.591000	0.81541	GCC	SRCAP	-	NULL	ENSG00000080603		0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	64	0.00	0	G	NM_006662		30749510	30749510	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	missense	55	40.22	37	SNP	1.000	A
SRD5A1	6715	genome.wustl.edu	37	5	6651954	6651954	+	Splice_Site	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:6651954G>T	ENST00000274192.5	+	2	527		c.e2-1		SRD5A1_ENST00000537411.1_Splice_Site|SRD5A1_ENST00000538824.1_Intron|SRD5A1_ENST00000504286.1_Splice_Site	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)						androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TGTTTCCTAAGGTGCTTAATT	0.348																																						dbGAP											0													99.0	91.0	94.0					5																	6651954		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.294-1G>T	5.37:g.6651954G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Splice_Site	SNP	-	e2-1	ENST00000274192.5	37	c.294-1	CCDS3870.1	5	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147284	0.57151	.	.	ENSG00000145545	ENST00000274192	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6098	0.91281	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRD5A1	6704954	1.000000	0.71417	0.117000	0.21633	0.090000	0.18270	8.201000	0.89735	2.683000	0.91414	0.650000	0.86243	.	SRD5A1	-	-	ENSG00000145545		0.348	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRD5A1	HGNC	protein_coding	OTTHUMT00000206903.1	92	0.00	0	G	NM_001047	Intron	6651954	6651954	+1	no_errors	ENST00000274192	ensembl	human	known	69_37n	splice_site	33	53.52	38	SNP	0.997	T
SRRM2	23524	genome.wustl.edu	37	16	2819269	2819269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:2819269delC	ENST00000301740.8	+	12	8554	c.8005delC	c.(8005-8007)cccfs	p.P2670fs	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2670	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGAAGCCACCCCCTGGCGA	0.627																																						dbGAP											0													75.0	85.0	82.0					16																	2819269		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.8005delC	16.37:g.2819269delC	ENSP00000301740:p.Pro2670fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Del	DEL	pfam_mRNA_splic_Cwf21	p.P2670fs	ENST00000301740.8	37	c.8005	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	130	0.00	0	C			2819269	2819269	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	frame_shift_del	77	41.04	55	DEL	1.000	-
SRRT	51593	genome.wustl.edu	37	7	100479332	100479332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:100479332delG	ENST00000347433.4	+	4	462	c.304delG	c.(304-306)gggfs	p.G106fs	SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000388793.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	106				G -> GG (in Ref. 3; CAB46374). {ECO:0000305}.	cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCCTATGCTGGGGGGGGTGG	0.607																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)							,,,	57,63,4112		1,0,55,5,53,2002	29.0	30.0	30.0		,,,	4.3	1.0	7		30	49,115,8030		0,0,49,12,91,3945	no	codingComplex,codingComplex,codingComplex,codingComplex	SRRT	NM_015908.5,NM_001128854.1,NM_001128853.1,NM_001128852.1	,,,	1,0,104,17,144,5947	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0015,2.8355,2.2855	,,,	,,,	100479332	106,178,12142	2197	4287	6484	-	-	-	SO:0001589	frameshift_variant	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.304delG	7.37:g.100479332delG	ENSP00000314491:p.Gly106fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Del	DEL	pfam_Arsenite-R_2,pfam_DUF3546	p.G104fs	ENST00000347433.4	37	c.304	CCDS34709.1	7																																																																																			SRRT	-	NULL	ENSG00000087087		0.607	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	65	0.00	0	G	NM_015908		100479332	100479332	+1	no_errors	ENST00000388793	ensembl	human	known	69_37n	frame_shift_del	86	27.87	34	DEL	1.000	-
SRSF4	6429	genome.wustl.edu	37	1	29485897	29485897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:29485897G>A	ENST00000373795.4	-	3	586	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	SRSF4_ENST00000546138.1_Nonsense_Mutation_p.Q118*|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	118	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TTTAGGTCTTGCCAGCTGCAC	0.473																																						dbGAP											0													64.0	60.0	61.0					1																	29485897		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.352C>T	1.37:g.29485897G>A	ENSP00000362900:p.Gln118*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXP1|Q9BUA4|Q9UEB5	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q118*	ENST00000373795.4	37	c.352	CCDS333.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485133	0.84854	.	.	ENSG00000116350	ENST00000373795;ENST00000434636;ENST00000546138	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4463	0.94849	0.0:0.0:1.0:0.0	.	.	.	.	X	118	.	ENSP00000362900:Q118X	Q	-	1	0	SRSF4	29358484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.835000	0.97688	0.650000	0.86243	CAA	SRSF4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000116350		0.473	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF4	HGNC	protein_coding	OTTHUMT00000010392.1	45	0.00	0	G	NM_005626		29485897	29485897	-1	no_errors	ENST00000373795	ensembl	human	known	69_37n	nonsense	33	37.74	20	SNP	1.000	A
SSBP2	23635	genome.wustl.edu	37	5	80785093	80785093	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:80785093C>G	ENST00000320672.4	-	6	618	c.408G>C	c.(406-408)agG>agC	p.R136S	SSBP2_ENST00000515395.1_Missense_Mutation_p.R106S|SSBP2_ENST00000514493.1_Missense_Mutation_p.R106S|SSBP2_ENST00000509053.1_Missense_Mutation_p.R106S|SSBP2_ENST00000505980.1_Intron	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	136	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TCAATGGGGGCCTTGGACCTC	0.328																																						dbGAP											0													37.0	39.0	38.0					5																	80785093		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.408G>C	5.37:g.80785093C>G	ENSP00000322977:p.Arg136Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.R136S	ENST00000320672.4	37	c.408	CCDS4056.1	5	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390246	0.42410	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000515395;ENST00000509013	.	.	.	5.92	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	M	0.81112	2.525	0.48830	D	0.999717	B;P;B;P;P	0.50066	0.201;0.931;0.078;0.845;0.845	B;P;B;P;P	0.59288	0.141;0.622;0.078;0.855;0.855	T	0.72707	-0.4212	9	0.30854	T	0.27	-10.5388	12.8111	0.57639	0.0:0.9104:0.0:0.0896	.	106;106;89;106;136	E9PDA8;E9PB74;A6ND70;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	S	136;106;106;89;42;42;106;132	.	ENSP00000322977:R136S	R	-	3	2	SSBP2	80820849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.951000	0.40333	2.794000	0.96219	0.650000	0.86243	AGG	SSBP2	-	pfam_SSDP_ss-bd	ENSG00000145687		0.328	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP2	HGNC	protein_coding	OTTHUMT00000239249.1	61	0.00	0	C	NM_012446		80785093	80785093	-1	no_errors	ENST00000320672	ensembl	human	known	69_37n	missense	21	51.16	22	SNP	1.000	G
SSH1	54434	genome.wustl.edu	37	12	109186303	109186303	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:109186303T>C	ENST00000326495.5	-	14	1745	c.1652A>G	c.(1651-1653)cAc>cGc	p.H551R	SSH1_ENST00000326470.5_Missense_Mutation_p.H562R|SSH1_ENST00000360239.3_Missense_Mutation_p.H239R|SSH1_ENST00000551165.1_Missense_Mutation_p.H551R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	551					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCCGGCCTGTGCACCTCTGC	0.592																																						dbGAP											0													86.0	92.0	90.0					12																	109186303		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1652A>G	12.37:g.109186303T>C	ENSP00000315713:p.His551Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.H551R	ENST00000326495.5	37	c.1652	CCDS9121.1	12	.	.	.	.	.	.	.	.	.	.	T	7.127	0.579063	0.13686	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.11063	3.02;2.84;2.83;2.81	4.82	-9.64	0.00541	.	7.432450	0.00166	N	0.000000	T	0.07863	0.0197	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.10296	0.003;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.21075	-1.0256	10	0.25106	T	0.35	-1.4689	4.0454	0.09770	0.1766:0.1195:0.473:0.2309	.	562;551;551;239	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	R	239;551;551;562	ENSP00000353374:H239R;ENSP00000315713:H551R;ENSP00000448824:H551R;ENSP00000326107:H562R	ENSP00000326107:H562R	H	-	2	0	SSH1	107710432	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.829000	0.00744	-1.866000	0.01145	0.533000	0.62120	CAC	SSH1	-	NULL	ENSG00000084112		0.592	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	117	0.00	0	T	NM_018984		109186303	109186303	-1	no_errors	ENST00000326495	ensembl	human	known	69_37n	missense	28	61.64	45	SNP	0.000	C
ST18	9705	genome.wustl.edu	37	8	53038635	53038635	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:53038635G>A	ENST00000276480.7	-	23	3415	c.2732C>T	c.(2731-2733)aCc>aTc	p.T911I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	911					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGCTTGATGGTCATGAGTTC	0.468																																						dbGAP											0													204.0	160.0	174.0					8																	53038635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2732C>T	8.37:g.53038635G>A	ENSP00000276480:p.Thr911Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.T911I	ENST00000276480.7	37	c.2732	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349368	0.61183	.	.	ENSG00000147488	ENST00000276480	T	0.49139	0.79	5.78	3.98	0.46160	.	0.100072	0.64402	D	0.000002	T	0.62998	0.2474	L	0.54323	1.7	0.51482	D	0.999923	D	0.71674	0.998	D	0.67548	0.952	T	0.63883	-0.6536	10	0.48119	T	0.1	-17.7982	16.6694	0.85261	0.0:0.244:0.756:0.0	.	911	O60284	ST18_HUMAN	I	911	ENSP00000276480:T911I	ENSP00000276480:T911I	T	-	2	0	ST18	53201188	1.000000	0.71417	0.997000	0.53966	0.496000	0.33645	7.293000	0.78740	0.783000	0.33636	-0.986000	0.02555	ACC	ST18	-	NULL	ENSG00000147488		0.468	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	158	0.00	0	G			53038635	53038635	-1	no_errors	ENST00000276480	ensembl	human	known	69_37n	missense	89	41.18	63	SNP	1.000	A
ST3GAL1	6482	genome.wustl.edu	37	8	134474198	134474199	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:134474198_134474199insA	ENST00000319914.5	-	8	1795_1796	c.768_769insT	c.(766-771)tttgacfs	p.D257fs	ST3GAL1_ENST00000521180.1_Frame_Shift_Ins_p.D257fs|ST3GAL1_ENST00000522652.1_Frame_Shift_Ins_p.D257fs|ST3GAL1_ENST00000399640.2_Frame_Shift_Ins_p.D257fs			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	257					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			AGCCAGTTGTCAAAGACATACT	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.769dupT	8.37:g.134474201_134474201dupA	ENSP00000318445:p.Asp257fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O60677|Q9UN51	Frame_Shift_Ins	INS	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.D256fs	ENST00000319914.5	37	c.769_768	CCDS6373.1	8																																																																																			ST3GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000008513		0.574	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL1	HGNC	protein_coding	OTTHUMT00000379132.1	73	0.00	0	-	NM_003033		134474198	134474199	-1	no_errors	ENST00000319914	ensembl	human	known	69_37n	frame_shift_ins	61	34.41	32	INS	1.000:0.813	A
ST8SIA2	8128	genome.wustl.edu	37	15	92977529	92977529	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:92977529A>G	ENST00000268164.3	+	3	451	c.214A>G	c.(214-216)Aat>Gat	p.N72D	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N51D	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	72					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TGACAGAAGTAATGAAAGCAT	0.448																																						dbGAP											0													166.0	141.0	149.0					15																	92977529		2198	4298	6496	-	-	-	SO:0001583	missense	0			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.214A>G	15.37:g.92977529A>G	ENSP00000268164:p.Asn72Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.N72D	ENST00000268164.3	37	c.214	CCDS10372.1	15	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568531	0.45798	.	.	ENSG00000140557	ENST00000268164;ENST00000539113	T;T	0.18174	2.23;2.58	5.65	5.65	0.86999	.	0.289408	0.38217	N	0.001762	T	0.09818	0.0241	N	0.14661	0.345	0.54753	D	0.999988	B;B	0.29716	0.255;0.002	B;B	0.19666	0.026;0.002	T	0.19451	-1.0305	10	0.10636	T	0.68	0.5845	15.888	0.79269	1.0:0.0:0.0:0.0	.	51;72	C6G488;Q92186	.;SIA8B_HUMAN	D	72;51	ENSP00000268164:N72D;ENSP00000437382:N51D	ENSP00000268164:N72D	N	+	1	0	ST8SIA2	90778533	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.479000	0.60236	2.147000	0.66899	0.533000	0.62120	AAT	ST8SIA2	-	pirsf_Sialyl_trans	ENSG00000140557		0.448	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	HGNC	protein_coding	OTTHUMT00000313526.1	268	0.00	0	A	NM_006011		92977529	92977529	+1	no_errors	ENST00000268164	ensembl	human	known	69_37n	missense	146	43.63	113	SNP	1.000	G
STAP2	55620	genome.wustl.edu	37	19	4327141	4327141	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:4327141T>C	ENST00000594605.1	-	8	866	c.743A>G	c.(742-744)gAg>gGg	p.E248G	STAP2_ENST00000600324.1_Missense_Mutation_p.E248G|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	248	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGTAGTCCTCGTCTAACAG	0.652																																						dbGAP											0													75.0	69.0	71.0					19																	4327141		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.743A>G	19.37:g.4327141T>C	ENSP00000471052:p.Glu248Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.E248G	ENST00000594605.1	37	c.743	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045560	0.75846	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	5.09	5.09	0.68999	.	0.196490	0.45867	D	0.000330	T	0.70613	0.3244	M	0.67953	2.075	0.48762	D	0.999709	D;D	0.71674	0.998;0.992	D;P	0.64776	0.929;0.876	T	0.74156	-0.3756	9	0.87932	D	0	-10.1287	11.2843	0.49214	0.0:0.0:0.0:1.0	.	248;248	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	G	248	.	ENSP00000317912:E248G	E	-	2	0	STAP2	4278141	0.977000	0.34250	0.921000	0.36526	0.304000	0.27724	4.737000	0.62066	1.924000	0.55735	0.454000	0.30748	GAG	STAP2	-	NULL	ENSG00000178078		0.652	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2	79	0.00	0	T	NM_001013841		4327141	4327141	-1	no_errors	ENST00000314714	ensembl	human	known	69_37n	missense	34	43.55	27	SNP	0.996	C
STAT3	6774	genome.wustl.edu	37	17	40468893	40468893	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:40468893A>G	ENST00000264657.5	-	23	2483	c.2171T>C	c.(2170-2172)cTg>cCg	p.L724P	STAT3_ENST00000389272.3_Missense_Mutation_p.L626P|STAT3_ENST00000588969.1_Missense_Mutation_p.L724P|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Missense_Mutation_p.L723P	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	724					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GGACATCGGCAGGTCAATGGT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome																													dbGAP											0													65.0	65.0	65.0					17																	40468893		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2171T>C	17.37:g.40468893A>G	ENSP00000264657:p.Leu724Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.L724P	ENST00000264657.5	37	c.2171	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157498	0.78114	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.97731	-4.51;-4.51;-4.51	5.09	5.09	0.68999	.	0.078171	0.53938	D	0.000052	D	0.97031	0.9030	L	0.41492	1.28	0.80722	D	1	D;D	0.58620	0.983;0.971	P;P	0.56700	0.804;0.641	D	0.96314	0.9231	10	0.31617	T	0.26	-41.5039	15.035	0.71738	1.0:0.0:0.0:0.0	.	723;724	P40763-2;P40763	.;STAT3_HUMAN	P	724;626;723	ENSP00000264657:L724P;ENSP00000373923:L626P;ENSP00000384943:L723P	ENSP00000264657:L724P	L	-	2	0	STAT3	37722419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.541000	0.82084	2.151000	0.67156	0.533000	0.62120	CTG	STAT3	-	NULL	ENSG00000168610		0.483	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	105	0.00	0	A	NM_139276, NM_003150		40468893	40468893	-1	no_errors	ENST00000264657	ensembl	human	known	69_37n	missense	84	35.38	46	SNP	1.000	G
STON2	85439	genome.wustl.edu	37	14	81744963	81744963	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:81744963C>T	ENST00000267540.2	-	4	892	c.692G>A	c.(691-693)aGc>aAc	p.S231N	STON2_ENST00000555447.1_Missense_Mutation_p.S231N|STON2_ENST00000556280.1_5'UTR	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	231					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGTGACCCAGCTGGGAAAACG	0.542																																						dbGAP											0													69.0	65.0	66.0					14																	81744963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.692G>A	14.37:g.81744963C>T	ENSP00000267540:p.Ser231Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S231N	ENST00000267540.2	37	c.692	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638123	0.47153	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	D;D	0.85258	-1.96;-1.96	6.17	6.17	0.99709	Stonin-2, N-terminal (1);	0.044901	0.85682	D	0.000000	D	0.83839	0.5341	L	0.59436	1.845	0.35585	D	0.806588	P;P	0.36199	0.543;0.487	B;B	0.38985	0.287;0.189	D	0.85995	0.1491	10	0.38643	T	0.18	-26.7563	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	231;231	Q8WXE9;G3V2T7	STON2_HUMAN;.	N	231;243;231	ENSP00000450857:S231N;ENSP00000267540:S231N	ENSP00000267540:S231N	S	-	2	0	STON2	80814716	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.621000	0.46418	2.941000	0.99782	0.655000	0.94253	AGC	STON2	-	pfam_Stonin2_N,pirsf_Stonin	ENSG00000140022		0.542	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	84	0.00	0	C	NM_033104		81744963	81744963	-1	no_errors	ENST00000267540	ensembl	human	known	69_37n	missense	43	39.44	28	SNP	1.000	T
STX11	8676	genome.wustl.edu	37	6	144508077	144508077	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:144508077C>T	ENST00000367568.4	+	2	496	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	105					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CTGCAAGCTGCGCGCCATGAA	0.677									Familial Hemophagocytic Lymphohistiocytosis																													dbGAP											0													20.0	21.0	20.0					6																	144508077		2203	4299	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.313C>T	6.37:g.144508077C>T	ENSP00000356540:p.Arg105Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R105C	ENST00000367568.4	37	c.313	CCDS5205.1	6	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471628	0.43942	.	.	ENSG00000135604	ENST00000367568	T	0.18502	2.21	5.99	1.19	0.21007	t-SNARE (1);Syntaxin, N-terminal (2);	0.369447	0.30732	N	0.008983	T	0.04182	0.0116	L	0.29908	0.895	0.35769	D	0.820759	B	0.24426	0.103	B	0.21546	0.035	T	0.26155	-1.0111	10	0.56958	D	0.05	-2.5987	6.768	0.23579	0.108:0.7201:0.0973:0.0746	.	105	O75558	STX11_HUMAN	C	105	ENSP00000356540:R105C	ENSP00000356540:R105C	R	+	1	0	STX11	144549770	0.995000	0.38212	0.093000	0.20910	0.986000	0.74619	2.189000	0.42621	-0.072000	0.12864	0.655000	0.94253	CGC	STX11	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N	ENSG00000135604		0.677	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1	24	0.00	0	C			144508077	144508077	+1	no_errors	ENST00000367568	ensembl	human	known	69_37n	missense	22	40.54	15	SNP	0.654	T
STX2	2054	genome.wustl.edu	37	12	131283160	131283160	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:131283160T>C	ENST00000392373.2	-	9	790	c.696A>G	c.(694-696)atA>atG	p.I232M	STX2_ENST00000261653.6_Missense_Mutation_p.I232M	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	232	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CATTTCTTTCTATGTTGTTGA	0.328																																						dbGAP											0													233.0	208.0	216.0					12																	131283160		2203	4299	6502	-	-	-	SO:0001583	missense	0			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.696A>G	12.37:g.131283160T>C	ENSP00000376178:p.Ile232Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VW8	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.I232M	ENST00000392373.2	37	c.696	CCDS9270.1	12	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970328	0.53614	.	.	ENSG00000111450	ENST00000261653;ENST00000392373	T;T	0.56611	0.45;0.45	5.01	2.35	0.29111	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	H	0.97829	4.085	0.58432	D	0.999992	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.85130	0.968;0.955;0.997	T	0.78319	-0.2250	10	0.87932	D	0	-38.5765	7.3942	0.26927	0.1317:0.0:0.2144:0.654	.	232;232;232	P32856-3;P32856-2;P32856	.;.;STX2_HUMAN	M	232	ENSP00000261653:I232M;ENSP00000376178:I232M	ENSP00000261653:I232M	I	-	3	3	STX2	129849113	0.998000	0.40836	0.996000	0.52242	0.819000	0.46315	0.365000	0.20348	0.216000	0.20781	0.482000	0.46254	ATA	STX2	-	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000111450		0.328	STX2-002	KNOWN	basic|CCDS	protein_coding	STX2	HGNC	protein_coding	OTTHUMT00000399455.2	170	0.00	0	T	NM_194356		131283160	131283160	-1	no_errors	ENST00000392373	ensembl	human	known	69_37n	missense	85	45.16	70	SNP	1.000	C
STYX	6815	genome.wustl.edu	37	14	53237751	53237751	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:53237751G>A	ENST00000354586.4	+	11	892	c.599G>A	c.(598-600)gGc>gAc	p.G200D	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Splice_Site_p.G200D	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	200					MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TAACTTTTAGGCAGTTTGAAG	0.353																																						dbGAP											0													105.0	97.0	100.0					14																	53237751		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.599-1G>A	14.37:g.53237751G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJG0|Q99850	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.G200D	ENST00000354586.4	37	c.599	CCDS9711.1	14	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040455	0.93630	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	T;T	0.04603	3.59;3.59	5.9	5.9	0.94986	.	0.700209	0.12403	N	0.471955	T	0.13072	0.0317	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	T	0.12268	-1.0554	9	.	.	.	.	18.447	0.90688	0.0:0.0:1.0:0.0	.	200	Q8WUJ0	STYX_HUMAN	D	200	ENSP00000403214:G200D;ENSP00000346599:G200D	.	G	+	2	0	STYX	52307501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.201000	0.95017	2.786000	0.95864	0.561000	0.74099	GGC	STYX	-	NULL	ENSG00000198252		0.353	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYX	HGNC	protein_coding	OTTHUMT00000276902.1	143	0.00	0	G	NM_145251	Missense_Mutation	53237751	53237751	+1	no_errors	ENST00000354586	ensembl	human	known	69_37n	missense	78	36.07	44	SNP	1.000	A
SUB1	10923	genome.wustl.edu	37	5	32591766	32591766	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:32591766G>A	ENST00000265073.4	+	3	298	c.170G>A	c.(169-171)aGc>aAc	p.S57N	SUB1_ENST00000512913.1_Missense_Mutation_p.S57N|SUB1_ENST00000502897.1_Missense_Mutation_p.S57N|SUB1_ENST00000515355.1_Missense_Mutation_p.S57N|SUB1_ENST00000504789.1_3'UTR	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	57	Ser-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|single-stranded DNA binding (GO:0003697)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CAGAGCAGCAGCAGCAGAGAT	0.408																																						dbGAP											0													71.0	75.0	74.0					5																	32591766		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79805	CCDS3897.1	5p13.3	2008-02-05			ENSG00000113387	ENSG00000113387			19985	protein-coding gene	gene with protein product		600503				8062392, 8062391	Standard	NM_006713		Approved	PC4, p15, p14	uc003jhs.2	P53999	OTTHUMG00000131071	ENST00000265073.4:c.170G>A	5.37:g.32591766G>A	ENSP00000265073:p.Ser57Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96L29	Missense_Mutation	SNP	pfam_PC4,superfamily_ssDNA-bd_transcriptional_reg	p.S57N	ENST00000265073.4	37	c.170	CCDS3897.1	5	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268516	0.23136	.	.	ENSG00000113387	ENST00000506237;ENST00000512913;ENST00000265073;ENST00000542111;ENST00000515355;ENST00000502897;ENST00000510442	T;T;T;T;T;T	0.56611	0.9;0.9;0.9;0.9;0.9;0.45	5.59	5.59	0.84812	Transcriptional coactivator p15 (1);	0.126628	0.64402	D	0.000001	T	0.36303	0.0962	N	0.20986	0.625	0.45634	D	0.998563	B	0.16166	0.016	B	0.17433	0.018	T	0.17992	-1.0351	10	0.10636	T	0.68	.	12.8854	0.58040	0.0744:0.0:0.9256:0.0	.	57	P53999	TCP4_HUMAN	N	57	ENSP00000422078:S57N;ENSP00000422806:S57N;ENSP00000265073:S57N;ENSP00000426850:S57N;ENSP00000427100:S57N;ENSP00000423893:S57N	ENSP00000265073:S57N	S	+	2	0	SUB1	32627523	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.435000	0.66532	2.625000	0.88918	0.557000	0.71058	AGC	SUB1	-	pfam_PC4	ENSG00000113387		0.408	SUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUB1	HGNC	protein_coding	OTTHUMT00000253730.1	180	0.00	0	G	NM_006713		32591766	32591766	+1	no_errors	ENST00000265073	ensembl	human	known	69_37n	missense	103	41.14	72	SNP	1.000	A
SUGP2	10147	genome.wustl.edu	37	19	19105872	19105872	+	Intron	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:19105872C>A	ENST00000601879.1	-	9	3426				SUGP2_ENST00000337018.6_Intron|AC004447.2_ENST00000594142.1_RNA|SUGP2_ENST00000600377.1_Intron|SUGP2_ENST00000452918.2_Intron|SUGP2_ENST00000456085.2_Missense_Mutation_p.S839I			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCCATCTTGGCTGTGAAGGAG	0.542																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.3128+80G>T	19.37:g.19105872C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.S839I	ENST00000601879.1	37	c.2516	CCDS12392.1	19	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.907678	0.00508	.	.	ENSG00000064607	ENST00000456085	T	0.13307	2.6	2.07	-4.14	0.03892	.	.	.	.	.	T	0.08935	0.0221	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23511	-1.0186	8	0.87932	D	0	.	2.9617	0.05895	0.1766:0.3967:0.3081:0.1186	.	839	E7ETX7	.	I	839	ENSP00000409603:S839I	ENSP00000409603:S839I	S	-	2	0	SUGP2	18966872	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.191000	0.00564	-3.969000	0.00086	-2.430000	0.00215	AGC	SUGP2	-	NULL	ENSG00000064607		0.542	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1	17	0.00	0	C	NM_001017392		19105872	19105872	-1	no_errors	ENST00000456085	ensembl	human	known	69_37n	missense	7	56.25	9	SNP	0.000	A
SULT1C4	27233	genome.wustl.edu	37	2	108999931	108999931	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:108999931C>T	ENST00000272452.2	+	5	906	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	SULT1C4_ENST00000409309.3_Missense_Mutation_p.R119C	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	194					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AGACAAACACCGTATTCTCTA	0.463																																						dbGAP											0													137.0	116.0	123.0					2																	108999931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.580C>T	2.37:g.108999931C>T	ENSP00000272452:p.Arg194Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R194C	ENST00000272452.2	37	c.580	CCDS2077.1	2	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399891	0.42613	.	.	ENSG00000198075	ENST00000272452;ENST00000409309	T;T	0.01933	4.55;4.55	4.76	1.84	0.25277	Sulfotransferase domain (1);	0.731808	0.12225	N	0.488002	T	0.09818	0.0241	M	0.79805	2.47	0.09310	N	0.999998	D;D	0.76494	0.977;0.999	B;D	0.63381	0.369;0.914	T	0.10613	-1.0622	10	0.66056	D	0.02	.	7.8244	0.29307	0.3082:0.6144:0.0:0.0774	.	119;194	Q08AS5;O75897	.;ST1C4_HUMAN	C	194;119	ENSP00000272452:R194C;ENSP00000387225:R119C	ENSP00000272452:R194C	R	+	1	0	SULT1C4	108366363	0.000000	0.05858	0.002000	0.10522	0.576000	0.36127	0.721000	0.25911	0.263000	0.21812	0.609000	0.83330	CGT	SULT1C4	-	pfam_Sulfotransferase_dom	ENSG00000198075		0.463	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1C4	HGNC	protein_coding	OTTHUMT00000253561.1	105	0.00	0	C	NM_006588		108999931	108999931	+1	no_errors	ENST00000272452	ensembl	human	known	69_37n	missense	66	42.74	50	SNP	0.016	T
SUMO1	7341	genome.wustl.edu	37	2	203096349	203096349	+	Intron	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:203096349delA	ENST00000392246.2	-	1	169				SUMO1_ENST00000409712.1_Intron|SUMO1_ENST00000392245.1_Intron|SUMO1_ENST00000409205.1_Intron|SUMO1_ENST00000392244.3_Intron|SUMO1_ENST00000409368.1_Intron|SUMO1_ENST00000409181.1_Intron|SUMO1_ENST00000409498.2_Intron	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)										actccgtctcaaaaaaaaaaG	0.517																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U38784	CCDS2352.1, CCDS46493.1	2q33	2013-06-05	2013-06-05	2004-05-19	ENSG00000116030	ENSG00000116030			12502	protein-coding gene	gene with protein product		601912	"""ubiquitin-like 1 (sentrin)"", ""SMT3 suppressor of mif two 3 homolog 1 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"""	UBL1		8812453, 8906799	Standard	NM_003352		Approved	PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10	uc002uyz.1	P63165	OTTHUMG00000132839	ENST00000392246.2:c.12+6813T>-	2.37:g.203096349delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068	Frame_Shift_Del	DEL	NULL	p.L40fs	ENST00000392246.2	37	c.119	CCDS2352.1	2																																																																																			SUMO1	-	NULL	ENSG00000116030		0.517	SUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMO1	HGNC	protein_coding	OTTHUMT00000256312.2	30	0.00	0	A	NM_003352		203096349	203096349	-1	no_errors	ENST00000409627	ensembl	human	known	69_37n	frame_shift_del	20	41.67	15	DEL	0.011	-
SUPT6H	6830	genome.wustl.edu	37	17	27016455	27016455	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:27016455C>T	ENST00000314616.6	+	25	3501	c.3218C>T	c.(3217-3219)gCc>gTc	p.A1073V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1073V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1073	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCAGTGGATGCCCTGGAATAC	0.512																																						dbGAP											0													114.0	99.0	104.0					17																	27016455		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3218C>T	17.37:g.27016455C>T	ENSP00000319104:p.Ala1073Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.A1073V	ENST00000314616.6	37	c.3218	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531241	0.85706	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.61	4.65	0.58169	Tex RuvX-like domain (1);	0.051819	0.85682	N	0.000000	D	0.85961	0.5819	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88778	0.3269	9	0.48119	T	0.1	-12.8479	14.3791	0.66900	0.0:0.9293:0.0:0.0707	.	1073	Q7KZ85	SPT6H_HUMAN	V	1073	.	ENSP00000319104:A1073V	A	+	2	0	SUPT6H	24040582	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.206000	0.77891	1.380000	0.46344	0.655000	0.94253	GCC	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.512	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	182	0.00	0	C	NM_003170		27016455	27016455	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	missense	58	54.62	71	SNP	1.000	T
SUPT7L	9913	genome.wustl.edu	37	2	27876578	27876578	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:27876578G>A	ENST00000337768.5	-	6	1588	c.1019C>T	c.(1018-1020)gCc>gTc	p.A340V	SUPT7L_ENST00000406540.1_Missense_Mutation_p.A338V|SUPT7L_ENST00000405491.1_Missense_Mutation_p.A338V|SUPT7L_ENST00000404798.2_Missense_Mutation_p.A205V|SUPT7L_ENST00000464789.2_Missense_Mutation_p.A338V	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	340					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					TTTCACATGGGCCAGATTCCA	0.468																																						dbGAP											0													167.0	161.0	163.0					2																	27876578		1990	4163	6153	-	-	-	SO:0001583	missense	0			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.1019C>T	2.37:g.27876578G>A	ENSP00000336750:p.Ala340Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	pfam_BTP,smart_BTP	p.A340V	ENST00000337768.5	37	c.1019	CCDS42667.1	2	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607495	0.66558	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	5.96	5.96	0.96718	.	0.211680	0.49305	D	0.000159	T	0.47691	0.1459	L	0.27053	0.805	0.58432	D	0.999996	B;P;B	0.35745	0.055;0.518;0.384	B;B;B	0.30316	0.012;0.114;0.053	T	0.50457	-0.8826	9	0.62326	D	0.03	-17.0163	20.422	0.99049	0.0:0.0:1.0:0.0	.	205;338;340	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	V	340;338;338;338;205	.	ENSP00000336750:A340V	A	-	2	0	SUPT7L	27730082	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.557000	0.73937	2.832000	0.97577	0.655000	0.94253	GCC	SUPT7L	-	NULL	ENSG00000119760		0.468	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	HGNC	protein_coding	OTTHUMT00000324568.1	401	0.00	0	G	NM_014860		27876578	27876578	-1	no_errors	ENST00000337768	ensembl	human	known	69_37n	missense	221	43.33	169	SNP	1.000	A
SURF1	6834	genome.wustl.edu	37	9	136220911	136220911	+	Intron	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:136220911C>T	ENST00000371974.3	-	5	355				SURF2_ENST00000371964.4_5'Flank|SURF1_ENST00000495952.1_5'UTR	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1						aerobic respiration (GO:0009060)|ATP biosynthetic process (GO:0006754)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory chain complex IV assembly (GO:0008535)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		AGGCAAAGGGCGTGCTCTTCA	0.522																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS6966.1, CCDS75928.1	9q33-q34	2012-10-12			ENSG00000148290	ENSG00000148290		"""Mitochondrial respiratory chain complex assembly factors"""	11474	protein-coding gene	gene with protein product	"""surfeit locus protein 1"""	185620				8499913, 9843204	Standard	NM_003172		Approved		uc004cdh.1	Q15526	OTTHUMG00000020866	ENST00000371974.3:c.324-116G>A	9.37:g.136220911C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8T3|Q5T8T4	RNA	SNP	-	NULL	ENST00000371974.3	37	NULL	CCDS6966.1	9																																																																																			SURF1	-	-	ENSG00000148290		0.522	SURF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF1	HGNC	protein_coding	OTTHUMT00000054879.1	14	0.00	0	C	NM_003172		136220911	136220911	-1	no_errors	ENST00000495952	ensembl	human	known	69_37n	rna	11	26.67	4	SNP	0.000	T
SVIL	6840	genome.wustl.edu	37	10	29801715	29801715	+	Silent	SNP	C	C	T	rs200568811	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:29801715C>T	ENST00000355867.4	-	17	4217	c.3465G>A	c.(3463-3465)gcG>gcA	p.A1155A	SVIL_ENST00000535393.1_Silent_p.A53A|SVIL_ENST00000375400.3_Silent_p.A729A|SVIL_ENST00000375398.2_Silent_p.A1155A	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1155					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCTGGCCGGCGCCTTGCCGC	0.562											OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0015	0.0	5008	,	,		17697	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													78.0	74.0	76.0					10																	29801715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.3465G>A	10.37:g.29801715C>T		Somatic	812	WXS	Illumina GAIIx	Phase_IV	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.A1155	ENST00000355867.4	37	c.3465	CCDS7164.1	10																																																																																			SVIL	-	NULL	ENSG00000197321		0.562	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	191	0.00	0	C			29801715	29801715	-1	no_errors	ENST00000355867	ensembl	human	known	69_37n	silent	104	41.94	78	SNP	0.000	T
SWT1	54823	genome.wustl.edu	37	1	185259912	185259912	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:185259912G>A	ENST00000367500.4	+	19	2845	c.2680G>A	c.(2680-2682)Gac>Aac	p.D894N	SWT1_ENST00000367501.3_Missense_Mutation_p.D894N	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	894										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ATGGTGTGAAGACATGCTCAA	0.393																																						dbGAP											0													92.0	89.0	90.0					1																	185259912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2680G>A	1.37:g.185259912G>A	ENSP00000356470:p.Asp894Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PINc_nuc-bd	p.D894N	ENST00000367500.4	37	c.2680	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	G	9.994	1.231533	0.22626	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.21191	2.02;2.02	5.67	4.75	0.60458	.	0.406106	0.23532	N	0.047180	T	0.12561	0.0305	N	0.24115	0.695	0.09310	N	1	B	0.21381	0.055	B	0.17433	0.018	T	0.10823	-1.0613	10	0.31617	T	0.26	.	7.0755	0.25201	0.1421:0.1521:0.7057:0.0	.	894	Q5T5J6	SWT1_HUMAN	N	894	ENSP00000356471:D894N;ENSP00000356470:D894N	ENSP00000356470:D894N	D	+	1	0	SWT1	183526535	0.810000	0.29049	0.594000	0.28785	0.385000	0.30292	3.154000	0.50693	2.659000	0.90383	0.655000	0.94253	GAC	SWT1	-	NULL	ENSG00000116668		0.393	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	202	0.00	0	G	NM_017673		185259912	185259912	+1	no_errors	ENST00000367500	ensembl	human	known	69_37n	missense	166	27.83	64	SNP	0.163	A
SYN1	6853	genome.wustl.edu	37	X	47464780	47464780	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:47464780T>C	ENST00000295987.7	-	4	652		c.e4-2		SYN1_ENST00000340666.4_Splice_Site	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I						neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						TTCAGAGACCTAGTGTGGCAG	0.522																																						dbGAP											0													54.0	41.0	45.0					X																	47464780		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.528-2A>G	X.37:g.47464780T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJQ1|O75825|Q5H9A9	Splice_Site	SNP	-	e4-2	ENST00000295987.7	37	c.528-2	CCDS14280.1	X	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660653	0.67586	.	.	ENSG00000008056	ENST00000295987;ENST00000340666	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4621	0.55736	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYN1	47349724	1.000000	0.71417	0.982000	0.44146	0.737000	0.42083	7.746000	0.85057	1.919000	0.55581	0.486000	0.48141	.	SYN1	-	-	ENSG00000008056		0.522	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	31	0.00	0	T	NM_006950	Intron	47464780	47464780	-1	no_errors	ENST00000295987	ensembl	human	known	69_37n	splice_site	31	38.00	19	SNP	1.000	C
SYNE1	23345	genome.wustl.edu	37	6	152540177	152540177	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:152540177G>T	ENST00000367255.5	-	120	22606	c.22005C>A	c.(22003-22005)gcC>gcA	p.A7335A	SYNE1_ENST00000265368.4_Silent_p.A7335A|SYNE1_ENST00000341594.5_Silent_p.A6947A|SYNE1_ENST00000356820.4_Silent_p.A1859A|SYNE1_ENST00000423061.1_Silent_p.A7264A|SYNE1_ENST00000448038.1_Silent_p.A7264A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7335					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTGCTCCAGGGCACACAAGT	0.453										HNSCC(10;0.0054)																												dbGAP											0													143.0	140.0	141.0					6																	152540177		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22005C>A	6.37:g.152540177G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A7335	ENST00000367255.5	37	c.22005	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	204	0.00	0	G	NM_182961		152540177	152540177	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	silent	99	41.52	71	SNP	0.427	T
SYNE1	23345	genome.wustl.edu	37	6	152762358	152762358	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:152762358T>C	ENST00000367255.5	-	32	4657	c.4056A>G	c.(4054-4056)gtA>gtG	p.V1352V	SYNE1_ENST00000265368.4_Silent_p.V1352V|SYNE1_ENST00000413186.2_Silent_p.V1352V|SYNE1_ENST00000341594.5_Silent_p.V1418V|SYNE1_ENST00000423061.1_Silent_p.V1359V|SYNE1_ENST00000367253.4_Silent_p.V1352V|SYNE1_ENST00000448038.1_Silent_p.V1359V|SYNE1_ENST00000367248.3_Silent_p.V1342V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1352					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTATCTTACTACTGTTTCTT	0.318										HNSCC(10;0.0054)																												dbGAP											0													85.0	74.0	77.0					6																	152762358		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4056A>G	6.37:g.152762358T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V1352	ENST00000367255.5	37	c.4056	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.318	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	69	0.00	0	T	NM_182961		152762358	152762358	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	silent	33	41.07	23	SNP	0.958	C
SYNE2	23224	genome.wustl.edu	37	14	64469684	64469684	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:64469684C>A	ENST00000344113.4	+	30	4245	c.4033C>A	c.(4033-4035)Ctt>Att	p.L1345I	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1345I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L1345I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1345					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGTTACAGACCTTTCAGCCTC	0.443																																						dbGAP											0													66.0	63.0	64.0					14																	64469684		1873	4113	5986	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4033C>A	14.37:g.64469684C>A	ENSP00000341781:p.Leu1345Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1345I	ENST00000344113.4	37	c.4033	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	1.925	-0.447291	0.04572	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56444	0.83;0.83;0.46	5.04	-0.748	0.11087	.	1.820860	0.03164	N	0.169697	T	0.38188	0.1031	L	0.40543	1.245	0.09310	N	0.999995	B;B	0.25667	0.08;0.131	B;B	0.16289	0.007;0.015	T	0.09796	-1.0658	10	0.30078	T	0.28	.	1.5391	0.02551	0.1342:0.3734:0.2359:0.2566	.	1345;1345	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	I	1345	ENSP00000350719:L1345I;ENSP00000341781:L1345I;ENSP00000452570:L1345I	ENSP00000261678:L1345I	L	+	1	0	SYNE2	63539437	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.252000	0.08806	0.164000	0.19529	0.655000	0.94253	CTT	SYNE2	-	NULL	ENSG00000054654		0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	194	0.00	0	C	NM_182914		64469684	64469684	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	138	36.99	81	SNP	0.001	A
SYNE2	23224	genome.wustl.edu	37	14	64488703	64488704	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:64488703_64488704insA	ENST00000344113.4	+	37	5693_5694	c.5481_5482insA	c.(5482-5484)aaafs	p.K1828fs	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.K1828fs|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.K1828fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1828					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATTTAATACCAAAAAAAGTGT	0.317																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5488dupA	14.37:g.64488710_64488710dupA	ENSP00000341781:p.Lys1828fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Ins	INS	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1829fs	ENST00000344113.4	37	c.5481_5482	CCDS41963.1	14																																																																																			SYNE2	-	NULL	ENSG00000054654		0.317	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	134	0.00	0	-	NM_182914		64488703	64488704	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	frame_shift_ins	112	32.53	54	INS	0.993:1.000	A
SYNRG	11276	genome.wustl.edu	37	17	35914004	35914004	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:35914004T>C	ENST00000339208.6	-	14	1961	c.1821A>G	c.(1819-1821)caA>caG	p.Q607Q	SYNRG_ENST00000585472.1_Silent_p.Q528Q|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Silent_p.Q529Q|SYNRG_ENST00000346661.4_Silent_p.Q607Q|SYNRG_ENST00000345615.4_Silent_p.Q529Q|SYNRG_ENST00000591288.1_Silent_p.Q446Q|SYNRG_ENST00000394378.2_Silent_p.Q529Q	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	607	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTTTTCACTTGTGTTTGTT	0.408																																						dbGAP											0													295.0	274.0	281.0					17																	35914004		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1821A>G	17.37:g.35914004T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.Q607	ENST00000339208.6	37	c.1821	CCDS11321.1	17																																																																																			SYNRG	-	NULL	ENSG00000006114		0.408	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	219	0.00	0	T	NM_007247		35914004	35914004	-1	no_errors	ENST00000339208	ensembl	human	known	69_37n	silent	106	45.08	87	SNP	0.995	C
SYT15	83849	genome.wustl.edu	37	10	46969350	46969350	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:46969350G>T	ENST00000374321.4	-	2	177	c.111C>A	c.(109-111)acC>acA	p.T37T	SYT15_ENST00000503753.1_Silent_p.T37T|SYT15_ENST00000374323.4_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Silent_p.T37T	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCTCCTCATAGGTGAGGGTGG	0.652																																					Ovarian(57;1152 1428 19651 37745)	dbGAP											0													42.0	53.0	50.0					10																	46969350		2176	4287	6463	-	-	-	SO:0001819	synonymous_variant	0			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.111C>A	10.37:g.46969350G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T37	ENST00000374321.4	37	c.111	CCDS44376.1	10																																																																																			SYT15	-	NULL	ENSG00000204176		0.652	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT15	HGNC	protein_coding	OTTHUMT00000367008.1	35	0.00	0	G	NM_031912		46969350	46969350	-1	no_errors	ENST00000374321	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	0.998	T
SYTL2	54843	genome.wustl.edu	37	11	85435356	85435356	+	Intron	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:85435356delG	ENST00000528231.1	-	8	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Frame_Shift_Del_p.P715fs|SYTL2_ENST00000525423.1_Frame_Shift_Del_p.P715fs|SYTL2_ENST00000359152.5_Frame_Shift_Del_p.P1239fs|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CCTGTCCTCTGGGGGGGTTAC	0.483																																						dbGAP											0									,,,,	7,4255		3,1,2127	78.0	77.0	77.0		,,,,	1.0	0.0	11		78	5,8249		2,1,4124	no	frameshift,frameshift,intron,intron,intron	SYTL2	NM_206928.2,NM_206927.2,NM_032943.3,NM_001162953.1,NM_001162951.1	,,,,	5,2,6251	A1A1,A1R,RR		0.0606,0.1642,0.0959	,,,,	,,,,	85435356	12,12504	2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3354C>-	11.37:g.85435356delG		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P1239fs	ENST00000528231.1	37	c.3716	CCDS53688.1	11																																																																																			SYTL2	-	NULL	ENSG00000137501		0.483	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	263	0.00	0	G	NM_206927		85435356	85435356	-1	no_errors	ENST00000359152	ensembl	human	known	69_37n	frame_shift_del	128	43.97	102	DEL	0.000	-
SYTL3	94120	genome.wustl.edu	37	6	159086487	159086487	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:159086487G>A	ENST00000297239.9	+	4	365	c.171G>A	c.(169-171)gaG>gaA	p.E57E	SYTL3_ENST00000360448.3_Silent_p.E57E|SYTL3_ENST00000367081.3_5'UTR			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	57	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGGACTGGGAGCACAAAGAGA	0.592																																						dbGAP											0													35.0	32.0	33.0					6																	159086487		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.171G>A	6.37:g.159086487G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q496J4|Q496J6|Q5U3B9	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.E57	ENST00000297239.9	37	c.171	CCDS56458.1	6																																																																																			SYTL3	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	ENSG00000164674		0.592	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	8	0.00	0	G			159086487	159086487	+1	no_errors	ENST00000297239	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.000	A
SYTL3	94120	genome.wustl.edu	37	6	159166609	159166609	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:159166609T>C	ENST00000297239.9	+	11	1147	c.953T>C	c.(952-954)tTc>tCc	p.F318S	SYTL3_ENST00000360448.3_Missense_Mutation_p.F250S|SYTL3_ENST00000367081.3_Missense_Mutation_p.F44S			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	318	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CATTATTGCTTCAAAACCCAT	0.363																																						dbGAP											0													87.0	85.0	86.0					6																	159166609		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.953T>C	6.37:g.159166609T>C	ENSP00000297239:p.Phe318Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.F318S	ENST00000297239.9	37	c.953	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138395	0.37728	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.07444	3.19;3.19;3.19	5.51	3.04	0.35103	C2 calcium/lipid-binding domain, CaLB (1);	1.078550	0.06981	N	0.819946	T	0.01976	0.0062	L	0.31926	0.97	0.27720	N	0.945167	B;B;B	0.23316	0.062;0.083;0.046	B;B;B	0.19666	0.026;0.017;0.015	T	0.48234	-0.9053	10	0.22109	T	0.4	.	6.3348	0.21291	0.1395:0.0803:0.0:0.7802	.	44;318;250	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	S	250;318;318;44	ENSP00000353631:F250S;ENSP00000297239:F318S;ENSP00000356048:F44S	ENSP00000297239:F318S	F	+	2	0	SYTL3	159086597	1.000000	0.71417	0.040000	0.18447	0.989000	0.77384	2.032000	0.41127	0.352000	0.24053	0.533000	0.62120	TTC	SYTL3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000164674		0.363	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	51	0.00	0	T			159166609	159166609	+1	no_errors	ENST00000297239	ensembl	human	known	69_37n	missense	56	29.11	23	SNP	0.768	C
SYVN1	84447	genome.wustl.edu	37	11	64899060	64899060	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:64899060A>G	ENST00000377190.3	-	7	633	c.539T>C	c.(538-540)aTc>aCc	p.I180T	SYVN1_ENST00000294256.8_Missense_Mutation_p.I180T|SYVN1_ENST00000526060.1_Missense_Mutation_p.I180T|SYVN1_ENST00000307289.6_Missense_Mutation_p.I129T|SYVN1_ENST00000526121.1_5'UTR	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	180					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGTCATCAGGATGGCATACTG	0.567																																						dbGAP											0													80.0	67.0	72.0					11																	64899060		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.539T>C	11.37:g.64899060A>G	ENSP00000366395:p.Ile180Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I180T	ENST00000377190.3	37	c.539	CCDS31605.1	11	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708974	0.68615	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060;ENST00000531018;ENST00000528487	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	M	0.88310	2.945	0.80722	D	1	D;D;D	0.71674	0.989;0.998;0.996	D;D;D	0.71414	0.911;0.973;0.94	T	0.75274	-0.3375	10	0.51188	T	0.08	-24.9607	12.0076	0.53268	1.0:0.0:0.0:0.0	.	129;180;180	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	T	180;180;180;129;180;120;165	ENSP00000366395:I180T;ENSP00000294256:I180T;ENSP00000302035:I129T;ENSP00000436984:I180T;ENSP00000431215:I120T;ENSP00000431720:I165T	ENSP00000294256:I180T	I	-	2	0	SYVN1	64655636	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.362000	0.90100	1.933000	0.56026	0.460000	0.39030	ATC	SYVN1	-	NULL	ENSG00000162298		0.567	SYVN1-001	KNOWN	basic|CCDS	protein_coding	SYVN1	HGNC	protein_coding	OTTHUMT00000385274.1	48	0.00	0	A	NM_032431		64899060	64899060	-1	no_errors	ENST00000377190	ensembl	human	known	69_37n	missense	18	41.94	13	SNP	1.000	G
SZRD1	26099	genome.wustl.edu	37	1	16719916	16719916	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:16719916C>T	ENST00000401088.4	+	3	470	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	SZRD1_ENST00000375590.3_Missense_Mutation_p.R79W|SPATA21_ENST00000466212.1_5'Flank|SZRD1_ENST00000401089.3_Missense_Mutation_p.R80W|SZRD1_ENST00000492354.1_Missense_Mutation_p.R79W|SZRD1_ENST00000471507.1_Missense_Mutation_p.R98W|SZRD1_ENST00000472461.1_3'UTR	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1	Q7Z422	SZRD1_HUMAN	SUZ RNA binding domain containing 1	99	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.																CGCCGAGGCCCGGAAGCGGAT	0.677																																						dbGAP											0													23.0	29.0	27.0					1																	16719916		2014	4160	6174	-	-	-	SO:0001583	missense	0			BC010631	CCDS44065.1, CCDS60000.1	1p36.13	2012-07-23	2012-07-23	2012-07-23	ENSG00000055070	ENSG00000055070			30232	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 144"""	C1orf144		12761501	Standard	NM_001114600		Approved	DKFZp566C0424	uc001aym.5	Q7Z422	OTTHUMG00000002217	ENST00000401088.4:c.295C>T	1.37:g.16719916C>T	ENSP00000383866:p.Arg99Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXJ2|C9K0U0|Q7Z424|Q8IVM2|Q8TBV3|Q9Y403	Missense_Mutation	SNP	NULL	p.R79W	ENST00000401088.4	37	c.235	CCDS44065.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939985	0.73557	.	.	ENSG00000055070	ENST00000401088;ENST00000471507;ENST00000401089;ENST00000434120;ENST00000375590;ENST00000492354	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	4.98	4.98	0.66077	SUZ domain (1);	0.000000	0.85682	D	0.000000	D	0.90937	0.7151	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.91635	0.999;0.996;0.96;0.9	D	0.91832	0.5476	10	0.87932	D	0	-2.3456	11.5348	0.50631	0.2839:0.7161:0.0:0.0	.	79;99;79;80	F8WEE8;Q7Z422;Q7Z422-2;Q7Z422-4	.;CA144_HUMAN;.;.	W	99;98;80;99;79;79	ENSP00000383866:R99W;ENSP00000419589:R98W;ENSP00000383867:R80W;ENSP00000364740:R79W;ENSP00000418012:R79W	ENSP00000364740:R79W	R	+	1	2	C1orf144	16592503	0.982000	0.34865	1.000000	0.80357	0.997000	0.91878	0.311000	0.19380	2.455000	0.83008	0.561000	0.74099	CGG	SZRD1	-	NULL	ENSG00000055070		0.677	SZRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SZRD1	HGNC	protein_coding	OTTHUMT00000006283.2	33	0.00	0	C	NM_015609		16719916	16719916	+1	no_errors	ENST00000375590	ensembl	human	known	69_37n	missense	23	47.73	21	SNP	1.000	T
TAAR9	134860	genome.wustl.edu	37	6	132859626	132859626	+	RNA	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:132859626T>C	ENST00000434551.1	+	0	198					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TGCACACACCTACAAACTTTC	0.512																																					Colon(10;433 445 15992 45047 47213)	dbGAP											0													164.0	161.0	162.0					6																	132859626		2161	4282	6443	-	-	-			0			AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859626T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.P66	ENST00000434551.1	37	c.198		6																																																																																			TAAR9	-	NULL	ENSG00000237110		0.512	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	TAAR9	HGNC	polymorphic_pseudogene	OTTHUMT00000042254.2	166	0.00	0	T	NM_175057		132859626	132859626	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434551	ensembl	human	known	69_37n	silent	69	48.12	64	SNP	0.119	C
TACR2	6865	genome.wustl.edu	37	10	71164800	71164800	+	Missense_Mutation	SNP	A	A	G	rs552398032		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:71164800A>G	ENST00000373306.4	-	5	1522	c.979T>C	c.(979-981)Tgg>Cgg	p.W327R	TACR2_ENST00000373307.1_Missense_Mutation_p.W115R	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	327					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GGTGTGACCCATGGGCAGCAG	0.592													A|||	1	0.000199681	0.0	0.0	5008	,	,		18361	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													123.0	106.0	112.0					10																	71164800		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.979T>C	10.37:g.71164800A>G	ENSP00000362403:p.Trp327Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.W327R	ENST00000373306.4	37	c.979	CCDS7293.1	10	.	.	.	.	.	.	.	.	.	.	A	15.72	2.916923	0.52546	.	.	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.34859	1.34;1.34	5.72	4.58	0.56647	.	0.132800	0.56097	D	0.000033	T	0.47985	0.1475	M	0.68952	2.095	0.38529	D	0.948912	D	0.61697	0.99	P	0.54759	0.76	T	0.49184	-0.8966	10	0.30854	T	0.27	.	11.8408	0.52353	0.9313:0.0:0.0687:0.0	.	327	P21452	NK2R_HUMAN	R	115;327	ENSP00000362404:W115R;ENSP00000362403:W327R	ENSP00000362403:W327R	W	-	1	0	TACR2	70834806	1.000000	0.71417	0.291000	0.24904	0.157000	0.22087	4.491000	0.60326	0.985000	0.38656	0.533000	0.62120	TGG	TACR2	-	prints_NK2_rcpt	ENSG00000075073		0.592	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR2	HGNC	protein_coding	OTTHUMT00000048411.1	18	0.00	0	A			71164800	71164800	-1	no_errors	ENST00000373306	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	0.651	G
TAF1L	138474	genome.wustl.edu	37	9	32633550	32633550	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:32633550T>C	ENST00000242310.4	-	1	2117	c.2028A>G	c.(2026-2028)tcA>tcG	p.S676S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	676					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCCACCACCTGAGGCTTGCC	0.453																																						dbGAP											0													169.0	154.0	159.0					9																	32633550		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2028A>G	9.37:g.32633550T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Silent	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.S676	ENST00000242310.4	37	c.2028	CCDS35003.1	9																																																																																			TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000122728		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	295	0.00	0	T			32633550	32633550	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	silent	229	33.82	117	SNP	1.000	C
TAF5	6877	genome.wustl.edu	37	10	105139467	105139467	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:105139467delA	ENST00000369839.3	+	4	1239	c.1216delA	c.(1216-1218)aaafs	p.K407fs	TAF5_ENST00000351396.4_Frame_Shift_Del_p.K407fs	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	407	Poly-Lys.				chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAAGAAGCCTAAAAAAGATAG	0.368																																						dbGAP											0													71.0	65.0	67.0					10																	105139467		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1216delA	10.37:g.105139467delA	ENSP00000358854:p.Lys407fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D408fs	ENST00000369839.3	37	c.1216	CCDS7547.1	10																																																																																			TAF5	-	NULL	ENSG00000148835		0.368	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	195	0.00	0	A			105139467	105139467	+1	no_errors	ENST00000369839	ensembl	human	known	69_37n	frame_shift_del	162	36.54	95	DEL	1.000	-
TARBP1	6894	genome.wustl.edu	37	1	234536962	234536963	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:234536962_234536963insA	ENST00000040877.1	-	25	4034_4035	c.4035_4036insT	c.(4033-4038)tttgcafs	p.A1346fs	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1346					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGAAATGTTGCAAAAAAGAAAT	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4036dupT	1.37:g.234536968_234536968dupA	ENSP00000040877:p.Ala1346fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H581	Frame_Shift_Ins	INS	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.A1345fs	ENST00000040877.1	37	c.4036_4035	CCDS1601.1	1																																																																																			TARBP1	-	NULL	ENSG00000059588		0.371	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	62	0.00	0	-	NM_005646		234536962	234536963	-1	no_errors	ENST00000040877	ensembl	human	known	69_37n	frame_shift_ins	90	25.62	31	INS	0.373:0.543	A
TAZ	6901	genome.wustl.edu	37	X	153648358	153648358	+	3'UTR	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:153648358delC	ENST00000498029.1	+	0	29				TAZ_ENST00000475699.1_Intron|TAZ_ENST00000369776.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000351413.4_Intron|TAZ_ENST00000299328.5_Intron			Q9GZV5	WWTR1_HUMAN	tafazzin						cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATTTCTACCTCCCCCCTGGGC	0.602																																						dbGAP											0													85.0	78.0	81.0					X																	153648358		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000498029.1:c.*26C>-	X.37:g.153648358delC		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNH7|Q8N3P2|Q9Y3W6	RNA	DEL	-	NULL	ENST00000498029.1	37	NULL		X																																																																																			TAZ	-	-	ENSG00000102125		0.602	TAZ-024	KNOWN	basic	processed_transcript	TAZ	HGNC	protein_coding	OTTHUMT00000130320.1	196	0.00	0	C			153648358	153648358	+1	no_errors	ENST00000498029	ensembl	human	known	69_37n	rna	190	30.99	88	DEL	0.000	-
TBC1D1	23216	genome.wustl.edu	37	4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aaafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	309	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTGACACCAAAAAAATAGC	0.313																																						dbGAP											0													68.0	72.0	70.0					4																	38020014		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.922delA	4.37:g.38020014delA	ENSP00000261439:p.Lys309fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.I310fs	ENST00000261439.4	37	c.922	CCDS33972.1	4																																																																																			TBC1D1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000065882		0.313	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	130	0.76	1	A	NM_015173		38020014	38020014	+1	no_errors	ENST00000261439	ensembl	human	known	69_37n	frame_shift_del	91	30.88	42	DEL	1.000	-
TBC1D13	54662	genome.wustl.edu	37	9	131554822	131554822	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:131554822G>A	ENST00000372648.5	+	6	502	c.352G>A	c.(352-354)Gag>Aag	p.E118K	TBC1D13_ENST00000223865.8_Missense_Mutation_p.E118K|TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	118	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAAGGACAACGAGGTGCTGCT	0.607																																						dbGAP											0													96.0	71.0	79.0					9																	131554822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.352G>A	9.37:g.131554822G>A	ENSP00000361731:p.Glu118Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E118K	ENST00000372648.5	37	c.352	CCDS6911.1	9	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839427	0.91117	.	.	ENSG00000107021	ENST00000372648;ENST00000223865	T;T	0.45276	0.9;0.9	4.77	3.87	0.44632	Rab-GAP/TBC domain (3);	0.192840	0.44483	N	0.000453	T	0.49167	0.1541	L	0.60845	1.875	0.80722	D	1	D;P	0.54772	0.968;0.792	P;B	0.55055	0.767;0.234	T	0.39702	-0.9601	10	0.19590	T	0.45	-18.5368	11.6026	0.51012	0.0882:0.0:0.9118:0.0	.	118;118	Q9NVG8-2;Q9NVG8	.;TBC13_HUMAN	K	118	ENSP00000361731:E118K;ENSP00000223865:E118K	ENSP00000223865:E118K	E	+	1	0	TBC1D13	130594643	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.012000	0.88631	1.002000	0.39104	0.561000	0.74099	GAG	TBC1D13	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000107021		0.607	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D13	HGNC	protein_coding	OTTHUMT00000054496.1	41	0.00	0	G	NM_018201		131554822	131554822	+1	no_errors	ENST00000372648	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	A
TBC1D23	55773	genome.wustl.edu	37	3	100020784	100020784	+	Intron	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:100020784delT	ENST00000394144.4	+	11	1099				TBC1D23_ENST00000486274.1_Intron|TBC1D23_ENST00000344949.5_Intron|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23						positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TATAAGAGCCTTTTTTTCCCC	0.279																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1093-127T>-	3.37:g.100020784delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	RNA	DEL	-	NULL	ENST00000394144.4	37	NULL	CCDS56265.1	3																																																																																			TBC1D23	-	-	ENSG00000036054		0.279	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	19	0.00	0	T	NM_018309		100020784	100020784	+1	no_errors	ENST00000496167	ensembl	human	known	69_37n	rna	17	39.29	11	DEL	0.060	-
TBC1D25	4943	genome.wustl.edu	37	X	48399755	48399755	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:48399755C>T	ENST00000376771.4	+	2	499	c.158C>T	c.(157-159)tCt>tTt	p.S53F	TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000476141.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	53					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAGTTCCGCTCTTTTGCTGTA	0.567																																						dbGAP											0													205.0	161.0	176.0					X																	48399755		2203	4300	6503	-	-	-	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.158C>T	X.37:g.48399755C>T	ENSP00000365962:p.Ser53Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S53F	ENST00000376771.4	37	c.158	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247099	0.80024	.	.	ENSG00000068354	ENST00000376771;ENST00000427713;ENST00000418627	T	0.15952	2.38	5.28	5.28	0.74379	.	0.326711	0.29383	N	0.012313	T	0.26048	0.0635	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.54664	0.73;0.758	T	0.00964	-1.1498	10	0.72032	D	0.01	-7.4468	13.2972	0.60305	0.0:1.0:0.0:0.0	.	57;53	B4DF03;Q3MII6	.;TBC25_HUMAN	F	53;53;69	ENSP00000365962:S53F	ENSP00000365962:S53F	S	+	2	0	TBC1D25	48284699	1.000000	0.71417	0.984000	0.44739	0.755000	0.42902	6.637000	0.74304	2.200000	0.70718	0.513000	0.50165	TCT	TBC1D25	-	NULL	ENSG00000068354		0.567	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	223	0.00	0	C	NM_002536		48399755	48399755	+1	no_errors	ENST00000376771	ensembl	human	known	69_37n	missense	235	34.54	124	SNP	0.979	T
TBC1D25	4943	genome.wustl.edu	37	X	48418993	48418993	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:48418993C>A	ENST00000376771.4	+	6	2038	c.1697C>A	c.(1696-1698)cCa>cAa	p.P566Q	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.P312Q	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	566					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCATCTCCACCATCCACCCAG	0.562																																						dbGAP											0													99.0	90.0	93.0					X																	48418993		2203	4300	6503	-	-	-	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1697C>A	X.37:g.48418993C>A	ENSP00000365962:p.Pro566Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.P566Q	ENST00000376771.4	37	c.1697	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	C	3.827	-0.036526	0.07497	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14766	2.51;2.48	5.05	3.06	0.35304	Rab-GAP/TBC domain (1);	0.697347	0.13800	N	0.361880	T	0.08537	0.0212	N	0.25647	0.755	0.09310	N	1	P;P;P	0.41313	0.745;0.622;0.745	B;B;B	0.33750	0.169;0.11;0.169	T	0.20075	-1.0286	10	0.36615	T	0.2	-1.0E-4	10.0251	0.42066	0.3858:0.6142:0.0:0.0	.	570;508;566	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	Q	566;312	ENSP00000365962:P566Q;ENSP00000444091:P312Q	ENSP00000365962:P566Q	P	+	2	0	TBC1D25	48303937	0.000000	0.05858	0.873000	0.34254	0.917000	0.54804	0.381000	0.20619	2.100000	0.63781	0.436000	0.28706	CCA	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000068354		0.562	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	141	0.70	1	C	NM_002536		48418993	48418993	+1	no_errors	ENST00000376771	ensembl	human	known	69_37n	missense	93	46.24	80	SNP	0.023	A
TBCE	6905	genome.wustl.edu	37	1	235577891	235577891	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:235577891C>A	ENST00000366601.3	+	4	505	c.329C>A	c.(328-330)cCt>cAt	p.P110H	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.P110H|TBCE_ENST00000543662.1_Missense_Mutation_p.P110H			Q15813	TBCE_HUMAN	tubulin folding cofactor E	110					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GGAAATAAACCTGTGGAGACT	0.358																																						dbGAP											0													85.0	84.0	84.0					1																	235577891		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.329C>A	1.37:g.235577891C>A	ENSP00000355560:p.Pro110His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8C2|B7Z3P1	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.P110H	ENST00000366601.3	37	c.329	CCDS1605.1	1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574340	0.45902	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.45276	0.9;0.9;0.9	5.66	4.73	0.59995	Cytoskeleton-associated protein, Gly-rich domain (1);	0.298622	0.36234	N	0.002719	T	0.45518	0.1346	L	0.55481	1.735	0.28326	N	0.922026	P;P	0.44816	0.844;0.553	B;P	0.45913	0.428;0.497	T	0.42327	-0.9458	10	0.37606	T	0.19	-6.8396	14.7889	0.69824	0.1501:0.8499:0.0:0.0	.	110;110	B7Z3P1;Q15813	.;TBCE_HUMAN	H	110	ENSP00000355560:P110H;ENSP00000384571:P110H;ENSP00000439170:P110H	ENSP00000355560:P110H	P	+	2	0	TBCE	233644514	0.997000	0.39634	0.909000	0.35828	0.407000	0.30961	2.481000	0.45215	1.469000	0.48083	0.650000	0.86243	CCT	TBCE	-	superfamily_CAP-Gly_domain	ENSG00000116957		0.358	TBCE-001	KNOWN	basic|CCDS	protein_coding	TBCE	HGNC	protein_coding	OTTHUMT00000096458.3	21	0.00	0	C	NM_003193		235577891	235577891	+1	no_errors	ENST00000543662	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	0.992	A
TBCEL	219899	genome.wustl.edu	37	11	120916474	120916474	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:120916474C>T	ENST00000529397.1	+	2	175	c.75C>T	c.(73-75)cgC>cgT	p.R25R	TBCEL_ENST00000422003.2_Silent_p.R25R	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	25						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TTCCTTATCGCCGTGGCCCGG	0.418																																						dbGAP											0													43.0	50.0	48.0					11																	120916474		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.75C>T	11.37:g.120916474C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAN6	Silent	SNP	pfscan_Ubiquitin_supergroup	p.R25	ENST00000529397.1	37	c.75	CCDS31692.1	11																																																																																			TBCEL	-	NULL	ENSG00000154114		0.418	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	96	0.00	0	C	NM_152715		120916474	120916474	+1	no_errors	ENST00000422003	ensembl	human	known	69_37n	silent	52	39.53	34	SNP	1.000	T
TBL1X	6907	genome.wustl.edu	37	X	9659627	9659627	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:9659627G>A	ENST00000217964.7	+	8	1265	c.625G>A	c.(625-627)Gcg>Acg	p.A209T	TBL1X_ENST00000536365.1_Missense_Mutation_p.A158T|TBL1X_ENST00000407597.2_Missense_Mutation_p.A209T|TBL1X_ENST00000380961.1_Missense_Mutation_p.A158T|TBL1X_ENST00000424279.1_Missense_Mutation_p.A158T	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	209					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				AGATAATCACGCGAAGCCAAT	0.433																																						dbGAP											0													131.0	104.0	113.0					X																	9659627		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.625G>A	X.37:g.9659627G>A	ENSP00000217964:p.Ala209Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A209T	ENST00000217964.7	37	c.625	CCDS14133.1	X	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.451318	0.01080	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.55760	0.5;0.6;0.6;0.6;0.5	4.48	3.31	0.37934	.	1.028760	0.07764	N	0.950585	T	0.32793	0.0841	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.23013	-1.0200	10	0.22706	T	0.39	.	9.927	0.41498	0.0:0.0:0.3404:0.6596	.	172;209	Q59F53;O60907	.;TBL1X_HUMAN	T	209;158;158;158;209	ENSP00000385988:A209T;ENSP00000394097:A158T;ENSP00000445317:A158T;ENSP00000370348:A158T;ENSP00000217964:A209T	ENSP00000217964:A209T	A	+	1	0	TBL1X	9619627	0.893000	0.30496	0.002000	0.10522	0.042000	0.13812	0.862000	0.27899	0.535000	0.28714	-0.321000	0.08615	GCG	TBL1X	-	NULL	ENSG00000101849		0.433	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1	68	0.00	0	G	NM_005647		9659627	9659627	+1	no_errors	ENST00000217964	ensembl	human	known	69_37n	missense	41	36.92	24	SNP	0.077	A
TBL2	26608	genome.wustl.edu	37	7	72985608	72985608	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:72985608C>A	ENST00000305632.5	-	6	1030	c.789G>T	c.(787-789)aaG>aaT	p.K263N	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.K227N	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	263							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAACTCCCCCTTCTTTCCAA	0.517																																						dbGAP											0													87.0	74.0	78.0					7																	72985608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.789G>T	7.37:g.72985608C>A	ENSP00000307260:p.Lys263Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQE2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K263N	ENST00000305632.5	37	c.789	CCDS5551.1	7	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897901	0.33535	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.56776	0.44;3.57	5.31	-1.99	0.07457	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.517740	0.22976	N	0.053380	T	0.23451	0.0567	N	0.10874	0.06	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.06405	0.001;0.002	T	0.04090	-1.0978	10	0.17369	T	0.5	-22.6219	5.5296	0.16976	0.139:0.3506:0.0:0.5103	.	227;263	E9PF19;Q9Y4P3	.;TBL2_HUMAN	N	263;263;227	ENSP00000307260:K263N;ENSP00000413979:K227N	ENSP00000307260:K263N	K	-	3	2	TBL2	72623544	0.000000	0.05858	0.997000	0.53966	0.997000	0.91878	-1.757000	0.01811	-0.139000	0.11414	0.561000	0.74099	AAG	TBL2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000106638		0.517	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL2	HGNC	protein_coding	OTTHUMT00000252233.3	39	0.00	0	C	NM_012453		72985608	72985608	-1	no_errors	ENST00000305632	ensembl	human	known	69_37n	missense	34	24.44	11	SNP	0.932	A
TBX22	50945	genome.wustl.edu	37	X	79286517	79286517	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:79286517C>T	ENST00000373294.5	+	8	1498	c.1470C>T	c.(1468-1470)aaC>aaT	p.N490N	TBX22_ENST00000373296.3_Silent_p.N490N|TBX22_ENST00000442340.1_Silent_p.N370N|TBX22_ENST00000373291.1_Silent_p.N370N	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	490					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTGGTTCCAACCATCTTAAAG	0.378																																						dbGAP											0													79.0	70.0	73.0					X																	79286517		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1470C>T	X.37:g.79286517C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.N490	ENST00000373294.5	37	c.1470	CCDS14445.1	X																																																																																			TBX22	-	NULL	ENSG00000122145		0.378	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	198	0.00	0	C	NM_016954		79286517	79286517	+1	no_errors	ENST00000373294	ensembl	human	known	69_37n	silent	88	40.14	59	SNP	0.012	T
TBX4	9496	genome.wustl.edu	37	17	59557553	59557553	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:59557553G>A	ENST00000240335.1	+	7	939	c.894G>A	c.(892-894)caG>caA	p.Q298Q	TBX4_ENST00000393853.4_Silent_p.Q298Q|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	298					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCACCCACCAGGCACTCCAGC	0.637																																						dbGAP											0													76.0	79.0	78.0					17																	59557553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.894G>A	17.37:g.59557553G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.Q298	ENST00000240335.1	37	c.894	CCDS11629.1	17																																																																																			TBX4	-	NULL	ENSG00000121075		0.637	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	53	0.00	0	G	NM_018488		59557553	59557553	+1	no_errors	ENST00000393853	ensembl	human	known	69_37n	silent	55	41.49	39	SNP	1.000	A
TCEB3	6924	genome.wustl.edu	37	1	24078183	24078183	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:24078183A>G	ENST00000418390.2	+	4	1437	c.1166A>G	c.(1165-1167)gAg>gGg	p.E389G	TCEB3_ENST00000609199.1_Missense_Mutation_p.E363G	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	389					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAGGTAAAAGAGAAGGGTTCT	0.458											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													90.0	99.0	96.0					1																	24078183		2203	4300	6503	-	-	-	SO:0001583	missense	0			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1166A>G	1.37:g.24078183A>G	ENSP00000395574:p.Glu389Gly	Somatic	768	WXS	Illumina GAIIx	Phase_IV	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.E389G	ENST00000418390.2	37	c.1166	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429433	0.25726	.	.	ENSG00000011007	ENST00000418390	T	0.12255	2.7	5.64	3.28	0.37604	.	0.489229	0.20442	N	0.092280	T	0.08626	0.0214	N	0.17082	0.46	0.44462	D	0.997392	B	0.11235	0.004	B	0.09377	0.004	T	0.13495	-1.0507	10	0.51188	T	0.08	-10.7536	9.2981	0.37829	0.8441:0.0:0.1559:0.0	.	389	Q14241	ELOA1_HUMAN	G	389	ENSP00000395574:E389G	ENSP00000395574:E389G	E	+	2	0	TCEB3	23950770	1.000000	0.71417	0.994000	0.49952	0.167000	0.22549	4.278000	0.58946	0.957000	0.37930	0.533000	0.62120	GAG	TCEB3	-	NULL	ENSG00000011007		0.458	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	271	0.73	2	A	NM_003198		24078183	24078183	+1	no_errors	ENST00000418390	ensembl	human	known	69_37n	missense	159	48.87	152	SNP	1.000	G
TCEB3CL2	100506888	genome.wustl.edu	37	18	44542947	44542947	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:44542947G>A	ENST00000591973.2	-	1	1660	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CTCCATTTCCGGGGTCAGCGG	0.652																																						dbGAP											0													1.0	1.0	1.0					18																	44542947		1	10	11	-	-	-	SO:0001819	synonymous_variant	0				CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.1425C>T	18.37:g.44542947G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.P475	ENST00000591973.2	37	c.1425	CCDS59316.1	18																																																																																			TCEB3CL2	-	NULL	ENSG00000266996		0.652	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	9	0.00	0	G	XM_929328		44542947	44542947	-1	no_errors	ENST00000591973	ensembl	human	known	69_37n	silent	3	50.00	3	SNP	0.000	A
TCF12	6938	genome.wustl.edu	37	15	57574774	57574774	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:57574774G>T	ENST00000267811.5	+	19	2342	c.2038G>T	c.(2038-2040)Ggt>Tgt	p.G680C	TCF12_ENST00000559710.1_Missense_Mutation_p.G314C|TCF12_ENST00000559703.1_Missense_Mutation_p.G337C|TCF12_ENST00000537840.1_Missense_Mutation_p.G444C|TCF12_ENST00000543579.1_Missense_Mutation_p.G534C|TCF12_ENST00000438423.2_Missense_Mutation_p.G704C|TCF12_ENST00000452095.2_Missense_Mutation_p.G700C|TCF12_ENST00000557843.1_Missense_Mutation_p.G680C|TCF12_ENST00000343827.3_Missense_Mutation_p.G510C|TCF12_ENST00000333725.5_Missense_Mutation_p.G704C	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	680					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAACCCTATGGGTCATATGTA	0.438			T	TEC	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0													127.0	128.0	128.0					15																	57574774		2192	4292	6484	-	-	-	SO:0001583	missense	0			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.2038G>T	15.37:g.57574774G>T	ENSP00000267811:p.Gly680Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.G704C	ENST00000267811.5	37	c.2110	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106473	0.77096	.	.	ENSG00000140262	ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.38722	1.7;1.7;1.7;1.7;1.49;1.12;1.52	5.96	5.96	0.96718	.	0.093521	0.85682	D	0.000000	T	0.65460	0.2693	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;0.998;0.999	D;D;D;D;D;D;D;D	0.97110	0.946;1.0;1.0;0.998;1.0;0.958;0.909;0.958	T	0.65096	-0.6251	10	0.87932	D	0	-28.6099	20.4043	0.99006	0.0:0.0:1.0:0.0	.	314;534;444;700;534;510;680;704	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;HTF4_HUMAN;.	C	680;704;700;704;534;444;510;292	ENSP00000267811:G680C;ENSP00000388940:G704C;ENSP00000396881:G700C;ENSP00000331057:G704C;ENSP00000440017:G534C;ENSP00000444696:G444C;ENSP00000342459:G510C	ENSP00000267811:G680C	G	+	1	0	TCF12	55362066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.776000	0.99001	2.823000	0.97156	0.650000	0.86243	GGT	TCF12	-	NULL	ENSG00000140262		0.438	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	272	0.00	0	G	NM_003205		57574774	57574774	+1	no_errors	ENST00000438423	ensembl	human	known	69_37n	missense	156	46.76	137	SNP	1.000	T
TCHH	7062	genome.wustl.edu	37	1	152083607	152083607	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:152083607G>A	ENST00000368804.1	-	2	2085	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	696					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTAATCCGCTCCCGGGCC	0.637																																						dbGAP											0													55.0	65.0	61.0					1																	152083607		2030	4191	6221	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2086C>T	1.37:g.152083607G>A	ENSP00000357794:p.Arg696Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R696W	ENST00000368804.1	37	c.2086	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	g	9.788	1.177251	0.21787	.	.	ENSG00000159450	ENST00000368804	T	0.08896	3.04	4.63	3.61	0.41365	.	.	.	.	.	T	0.07098	0.0180	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	P	0.62014	0.897	T	0.24404	-1.0161	9	0.87932	D	0	1.4229	10.8194	0.46595	0.0:0.0:0.7225:0.2775	.	696	Q07283	TRHY_HUMAN	W	696	ENSP00000357794:R696W	ENSP00000357794:R696W	R	-	1	2	TCHH	150350231	0.007000	0.16637	0.003000	0.11579	0.030000	0.12068	0.690000	0.25451	2.127000	0.65507	0.457000	0.33378	CGG	TCHH	-	NULL	ENSG00000159450		0.637	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	113	0.00	0	G	NM_007113		152083607	152083607	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	126	37.86	78	SNP	0.001	A
TCL1B	9623	genome.wustl.edu	37	14	96152838	96152838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:96152838delC	ENST00000340722.7	+	1	85	c.34delC	c.(34-36)cccfs	p.P13fs	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	13										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTAGGGGTGCCCCCTGGCCG	0.612																																						dbGAP											0													97.0	100.0	99.0					14																	96152838		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.34delC	14.37:g.96152838delC	ENSP00000343223:p.Pro13fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEK7|Q6IAR7|Q9UBQ4	Frame_Shift_Del	DEL	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1	p.P13fs	ENST00000340722.7	37	c.34	CCDS32151.1	14																																																																																			TCL1B	-	pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1	ENSG00000213231		0.612	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCL1B	HGNC	protein_coding	OTTHUMT00000315123.2	20	0.00	0	C			96152838	96152838	+1	no_errors	ENST00000340722	ensembl	human	known	69_37n	frame_shift_del	12	33.33	7	DEL	0.000	-
TCP11	6954	genome.wustl.edu	37	6	35103901	35103901	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:35103901C>A	ENST00000512012.1	-	2	375	c.219G>T	c.(217-219)aaG>aaT	p.K73N	TCP11_ENST00000373979.2_Intron|TCP11_ENST00000244645.3_Intron|TCP11_ENST00000412155.2_Missense_Mutation_p.K35N|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000373974.4_Missense_Mutation_p.K40N|TCP11_ENST00000418521.2_Missense_Mutation_p.K10N|TCP11_ENST00000311875.5_Missense_Mutation_p.K86N|TCP11_ENST00000444780.2_Missense_Mutation_p.K81N|AL138721.1_ENST00000583622.1_RNA			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	73					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GAGGTAAAACCTTCTCTTCCA	0.418																																						dbGAP											0													130.0	127.0	128.0					6																	35103901		1896	4110	6006	-	-	-	SO:0001583	missense	0				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.219G>T	6.37:g.35103901C>A	ENSP00000425995:p.Lys73Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	pfam_Tcp11	p.K86N	ENST00000512012.1	37	c.258		6	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009356	0.19277	.	.	ENSG00000124678	ENST00000412155;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000507706;ENST00000505400	T;T;T;T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8;2.8;2.8;2.8	4.57	2.65	0.31530	.	0.783487	0.11927	N	0.516101	T	0.01661	0.0053	N	0.20483	0.58	0.09310	N	0.999999	B;B;B;B;B	0.17465	0.003;0.001;0.001;0.022;0.003	B;B;B;B;B	0.16722	0.006;0.006;0.006;0.016;0.011	T	0.47381	-0.9122	10	0.12766	T	0.61	.	5.1461	0.14985	0.2034:0.6912:0.0:0.1054	.	40;35;81;146;73	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5	.;.;.;.;TCP11_HUMAN	N	35;86;81;40;10;73;10;10	ENSP00000402816:K35N;ENSP00000308708:K86N;ENSP00000404479:K81N;ENSP00000363085:K40N;ENSP00000415320:K10N;ENSP00000425995:K73N;ENSP00000423183:K10N;ENSP00000421333:K10N	ENSP00000308708:K86N	K	-	3	2	TCP11	35211879	0.000000	0.05858	0.143000	0.22291	0.500000	0.33767	-0.021000	0.12504	1.279000	0.44446	0.555000	0.69702	AAG	TCP11	-	pfam_Tcp11	ENSG00000124678		0.418	TCP11-014	PUTATIVE	basic	protein_coding	TCP11	HGNC	protein_coding	OTTHUMT00000370354.1	42	0.00	0	C	NM_001093728		35103901	35103901	-1	no_errors	ENST00000311875	ensembl	human	known	69_37n	missense	26	44.68	21	SNP	0.055	A
TDRD3	81550	genome.wustl.edu	37	13	61103212	61103212	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:61103212T>A	ENST00000196169.3	+	11	2362	c.1574T>A	c.(1573-1575)aTa>aAa	p.I525K	TDRD3_ENST00000535286.1_Missense_Mutation_p.I618K|TDRD3_ENST00000377894.2_Missense_Mutation_p.I525K|TDRD3_ENST00000377881.2_Missense_Mutation_p.I525K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	525					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GATGATAAAATATTTTACAAT	0.408																																					Colon(36;164 906 35820 50723)	dbGAP											0													50.0	51.0	51.0					13																	61103212		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1574T>A	13.37:g.61103212T>A	ENSP00000196169:p.Ile525Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.I618K	ENST00000196169.3	37	c.1853	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	T	13.33	2.204928	0.38905	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93811	-3.28;-3.28;-3.28;-3.29	5.84	5.84	0.93424	.	0.837310	0.11579	N	0.549977	D	0.91901	0.7436	L	0.51422	1.61	0.52501	D	0.999953	B;B;B	0.26258	0.103;0.145;0.029	B;B;B	0.25614	0.054;0.062;0.017	D	0.87106	0.2182	10	0.46703	T	0.11	-5.7075	16.5317	0.84362	0.0:0.0:0.0:1.0	.	618;524;525	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	K	525;525;525;618	ENSP00000196169:I525K;ENSP00000367113:I525K;ENSP00000367126:I525K;ENSP00000440190:I618K	ENSP00000196169:I525K	I	+	2	0	TDRD3	60001213	1.000000	0.71417	0.999000	0.59377	0.532000	0.34746	3.118000	0.50414	2.367000	0.80283	0.528000	0.53228	ATA	TDRD3	-	NULL	ENSG00000083544		0.408	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	127	0.00	0	T	NM_030794		61103212	61103212	+1	no_errors	ENST00000535286	ensembl	human	known	69_37n	missense	64	28.89	26	SNP	1.000	A
TEAD4	7004	genome.wustl.edu	37	12	3131077	3131077	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:3131077C>T	ENST00000397122.2	+	8	689	c.404C>T	c.(403-405)gCc>gTc	p.A135V	TEAD4_ENST00000359864.2_Missense_Mutation_p.A264V|TEAD4_ENST00000358409.2_Missense_Mutation_p.A221V	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	264					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TACCTCGAAGCCGTGGACATC	0.542																																						dbGAP											0													137.0	136.0	137.0					12																	3131077		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.404C>T	12.37:g.3131077C>T	ENSP00000380311:p.Ala135Val	Somatic		WXS	Illumina GAIIx	Phase_IV	H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.A264V	ENST00000397122.2	37	c.791	CCDS41737.1	12	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760594	0.69763	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.31247	1.5;1.5;1.5	4.19	4.19	0.49359	.	0.357010	0.29838	N	0.011078	T	0.41328	0.1154	M	0.85945	2.785	0.49687	D	0.999812	B	0.19073	0.033	B	0.21151	0.033	T	0.48007	-0.9072	10	0.51188	T	0.08	-8.7258	15.6724	0.77289	0.0:1.0:0.0:0.0	.	264	Q15561	TEAD4_HUMAN	V	221;264;135	ENSP00000351184:A221V;ENSP00000352926:A264V;ENSP00000380311:A135V	ENSP00000351184:A221V	A	+	2	0	TEAD4	3001338	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	5.932000	0.70121	2.167000	0.68274	0.655000	0.94253	GCC	TEAD4	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000197905		0.542	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398477.1	107	0.00	0	C	NM_003213		3131077	3131077	+1	no_errors	ENST00000359864	ensembl	human	known	69_37n	missense	75	38.02	46	SNP	1.000	T
TECTA	7007	genome.wustl.edu	37	11	121000430	121000430	+	Silent	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:121000430G>T	ENST00000392793.1	+	10	2722	c.2451G>T	c.(2449-2451)gtG>gtT	p.V817V	TECTA_ENST00000264037.2_Silent_p.V817V			O75443	TECTA_HUMAN	tectorin alpha	817	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTACGACAGTGGAGTCCAAGG	0.468																																						dbGAP											0													165.0	161.0	162.0					11																	121000430		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2451G>T	11.37:g.121000430G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.V817	ENST00000392793.1	37	c.2451	CCDS8434.1	11																																																																																			TECTA	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000109927		0.468	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	218	0.00	0	G	NM_005422		121000430	121000430	+1	no_errors	ENST00000264037	ensembl	human	known	69_37n	silent	147	44.94	120	SNP	0.946	T
TEK	7010	genome.wustl.edu	37	9	27197589	27197589	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:27197589T>C	ENST00000380036.4	+	12	2343	c.1901T>C	c.(1900-1902)cTt>cCt	p.L634P	RNA5SP280_ENST00000411230.1_RNA|TEK_ENST00000406359.4_Missense_Mutation_p.L591P|TEK_ENST00000519097.1_Missense_Mutation_p.L487P	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	634	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		L -> F (in dbSNP:rs35378598). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GCTTGGACCCTTAGTGACAGT	0.498																																						dbGAP											0													41.0	42.0	42.0					9																	27197589		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1901T>C	9.37:g.27197589T>C	ENSP00000369375:p.Leu634Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L634P	ENST00000380036.4	37	c.1901	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321962	0.41096	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.54	5.54	0.83059	Fibronectin, type III (1);	0.145692	0.31747	N	0.007128	T	0.58004	0.2092	L	0.40543	1.245	0.58432	D	0.999997	P;D;D;P	0.56968	0.875;0.972;0.978;0.947	P;P;P;P	0.58780	0.459;0.845;0.598;0.556	T	0.60762	-0.7199	10	0.62326	D	0.03	.	10.861	0.46827	0.1406:0.0:0.0:0.8594	.	487;667;591;634	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	P	487;634;591;444	ENSP00000430686:L487P;ENSP00000369375:L634P;ENSP00000383977:L591P;ENSP00000428337:L444P	ENSP00000369375:L634P	L	+	2	0	TEK	27187589	0.470000	0.25854	0.972000	0.41901	0.121000	0.20230	2.000000	0.40816	2.117000	0.64856	0.533000	0.62120	CTT	TEK	-	superfamily_Fibronectin_type3	ENSG00000120156		0.498	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	136	0.00	0	T			27197589	27197589	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	missense	66	45.00	54	SNP	0.997	C
TEP1	7011	genome.wustl.edu	37	14	20852647	20852647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:20852647delC	ENST00000262715.5	-	23	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTGCCACACCCCCCCACTC	0.587																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)											108.0	128.0	121.0					14																	20852647		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3242delG	14.37:g.20852647delC	ENSP00000262715:p.Gly1081fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV9	Frame_Shift_Del	DEL	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1081fs	ENST00000262715.5	37	c.3242	CCDS9548.1	14																																																																																			TEP1	-	NULL	ENSG00000129566		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	229	0.00	0	C	NM_007110		20852647	20852647	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	frame_shift_del	184	35.74	104	DEL	0.998	-
TEP1	7011	genome.wustl.edu	37	14	20871967	20871967	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:20871967G>A	ENST00000262715.5	-	6	1149	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	370	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCAAACTGGGCAAATTTGTC	0.602																																						dbGAP											0													110.0	113.0	112.0					14																	20871967		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1109C>T	14.37:g.20871967G>A	ENSP00000262715:p.Ala370Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A370V	ENST00000262715.5	37	c.1109	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820076	0.50633	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.15372	2.43	5.69	3.86	0.44501	TROVE (2);	0.533843	0.20485	N	0.091408	T	0.13030	0.0316	L	0.49350	1.555	0.80722	D	1	B	0.26935	0.164	B	0.21917	0.037	T	0.15122	-1.0448	10	0.41790	T	0.15	-8.7793	2.4403	0.04492	0.1621:0.1489:0.5348:0.1542	.	370	Q99973	TEP1_HUMAN	V	370	ENSP00000262715:A370V	ENSP00000262715:A370V	A	-	2	0	TEP1	19941807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.981000	0.40628	1.403000	0.46800	0.655000	0.94253	GCC	TEP1	-	pfam_TROVE,pfscan_TROVE	ENSG00000129566		0.602	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	216	0.00	0	G	NM_007110		20871967	20871967	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	missense	155	36.48	89	SNP	0.997	A
TET1	80312	genome.wustl.edu	37	10	70406323	70406323	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:70406323T>C	ENST00000373644.4	+	4	4046	c.3837T>C	c.(3835-3837)gaT>gaC	p.D1279D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1279					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CATTCACTGATAAAGCTTATA	0.443																																						dbGAP											0													89.0	81.0	84.0					10																	70406323		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3837T>C	10.37:g.70406323T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.D1279	ENST00000373644.4	37	c.3837	CCDS7281.1	10																																																																																			TET1	-	NULL	ENSG00000138336		0.443	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	167	0.00	0	T	NM_030625		70406323	70406323	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	silent	87	43.95	69	SNP	0.000	C
TFCP2	7024	genome.wustl.edu	37	12	51492623	51492623	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:51492623delG	ENST00000257915.5	-	13	1813	c.1355delC	c.(1354-1356)cctfs	p.P452fs	TFCP2_ENST00000548115.1_Frame_Shift_Del_p.P401fs|TFCP2_ENST00000307660.4_Frame_Shift_Del_p.P401fs|TFCP2_ENST00000549867.1_Frame_Shift_Del_p.P374fs	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	452					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GATCTGGCAAGGGGAAATGCT	0.413																																						dbGAP											0													118.0	108.0	112.0					12																	51492623		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1355delC	12.37:g.51492623delG	ENSP00000257915:p.Pro452fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E9|Q12801|Q9UD75|Q9UD77	Frame_Shift_Del	DEL	pfam_CP2,superfamily_SAM/pointed	p.P452fs	ENST00000257915.5	37	c.1355	CCDS8808.1	12																																																																																			TFCP2	-	NULL	ENSG00000135457		0.413	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	97	0.00	0	G	NM_005653		51492623	51492623	-1	no_errors	ENST00000257915	ensembl	human	known	69_37n	frame_shift_del	64	45.90	56	DEL	1.000	-
TFE3	7030	genome.wustl.edu	37	X	48887342	48887342	+	3'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:48887342C>T	ENST00000315869.7	-	0	2314				TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3						humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTCATCCTGTCTCCTTCCCTC	0.597			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	dbGAP		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													93.0	82.0	85.0					X																	48887342		876	1991	2867	-	-	-	SO:0001624	3_prime_UTR_variant	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.*327G>A	X.37:g.48887342C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	RNA	SNP	-	NULL	ENST00000315869.7	37	NULL	CCDS14315.3	X																																																																																			TFE3	-	-	ENSG00000068323		0.597	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	85	0.00	0	C	NM_006521		48887342	48887342	-1	no_errors	ENST00000478476	ensembl	human	known	69_37n	rna	95	45.40	79	SNP	0.083	T
TFE3	7030	genome.wustl.edu	37	X	48887602	48887602	+	3'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:48887602C>T	ENST00000315869.7	-	0	2054				TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3						humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGGGAAAAGGCGGGGCCTCAT	0.622			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	dbGAP		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													42.0	41.0	41.0					X																	48887602		876	1990	2866	-	-	-	SO:0001624	3_prime_UTR_variant	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.*67G>A	X.37:g.48887602C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	RNA	SNP	-	NULL	ENST00000315869.7	37	NULL	CCDS14315.3	X																																																																																			TFE3	-	-	ENSG00000068323		0.622	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	49	0.00	0	C	NM_006521		48887602	48887602	-1	no_errors	ENST00000478476	ensembl	human	known	69_37n	rna	48	47.25	43	SNP	0.021	T
TG	7038	genome.wustl.edu	37	8	133918958	133918958	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:133918958C>T	ENST00000220616.4	+	17	3700	c.3660C>T	c.(3658-3660)aaC>aaT	p.N1220N	TG_ENST00000377869.1_Silent_p.N1220N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1220					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.N1220N(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCCATTCAACGCGTCGGAGG	0.642																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)											68.0	63.0	65.0					8																	133918958		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3660C>T	8.37:g.133918958C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.T164M	ENST00000220616.4	37	c.491	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711819	0.30322	.	.	ENSG00000042832	ENST00000518505	.	.	.	5.24	-2.79	0.05841	.	.	.	.	.	T	0.18676	0.0448	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26815	-1.0092	4	.	.	.	.	2.0505	0.03570	0.1274:0.3262:0.1253:0.4211	.	.	.	.	M	164	.	.	T	+	2	0	TG	133988140	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.129000	0.03244	-0.274000	0.09232	-0.258000	0.10820	ACG	TG	-	NULL	ENSG00000042832		0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	54	0.00	0	C	NM_003235		133918958	133918958	+1	pseudogene:no_stop_codon	ENST00000518505	ensembl	human	novel	69_37n	missense	44	34.33	23	SNP	0.000	T
TGFBRAP1	9392	genome.wustl.edu	37	2	105885923	105885923	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:105885923C>T	ENST00000393359.2	-	11	2638	c.2212G>A	c.(2212-2214)Gtg>Atg	p.V738M	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V738M			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	738					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGCAGGTCCACGGCAGCCACG	0.647																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	dbGAP											0													21.0	24.0	23.0					2																	105885923		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.2212G>A	2.37:g.105885923C>T	ENSP00000377027:p.Val738Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.V738M	ENST00000393359.2	37	c.2212	CCDS2067.1	2	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488679	0.44249	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.50001	0.76;0.76	5.66	3.88	0.44766	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 2 (1);	0.176302	0.49916	D	0.000132	T	0.53738	0.1815	M	0.76328	2.33	0.49483	D	0.999798	B;B	0.32160	0.358;0.322	B;B	0.39840	0.145;0.311	T	0.55630	-0.8111	10	0.56958	D	0.05	-17.377	12.593	0.56453	0.0:0.8646:0.0:0.1354	.	193;738	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	M	738;738;193	ENSP00000377027:V738M;ENSP00000258449:V738M	ENSP00000258449:V738M	V	-	1	0	TGFBRAP1	105252355	0.998000	0.40836	0.986000	0.45419	0.481000	0.33189	3.760000	0.55235	0.761000	0.33130	-0.254000	0.11334	GTG	TGFBRAP1	-	pfam_VPS39/TGF_beta_rcpt-assoc_2	ENSG00000135966		0.647	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	HGNC	protein_coding	OTTHUMT00000253354.2	14	0.00	0	C	NM_004257		105885923	105885923	-1	no_errors	ENST00000258449	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	T
TGS1	96764	genome.wustl.edu	37	8	56711474	56711474	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:56711474T>C	ENST00000260129.5	+	8	2021	c.1544T>C	c.(1543-1545)gTa>gCa	p.V515A		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	515					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AAATTTAAGGTAGAAAAATTC	0.368																																					Esophageal Squamous(34;275 823 4842 34837 48447)	dbGAP											0													37.0	36.0	36.0					8																	56711474		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1543-1T>C	8.37:g.56711474T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.V515A	ENST00000260129.5	37	c.1544	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343112	0.82022	.	.	ENSG00000137574	ENST00000260129	T	0.50548	0.74	5.84	5.84	0.93424	.	0.158555	0.47852	D	0.000204	T	0.69142	0.3078	M	0.77616	2.38	0.45477	D	0.998443	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.981	T	0.73186	-0.4062	10	0.72032	D	0.01	-21.7086	14.797	0.69884	0.0:0.0:0.0:1.0	.	515;515	B2RBJ7;Q96RS0	.;TGS1_HUMAN	A	515	ENSP00000260129:V515A	ENSP00000260129:V515A	V	+	2	0	TGS1	56874028	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.747000	0.62141	2.230000	0.72887	0.528000	0.53228	GTA	TGS1	-	NULL	ENSG00000137574		0.368	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	64	0.00	0	T	NM_024831	Missense_Mutation	56711474	56711474	+1	no_errors	ENST00000260129	ensembl	human	known	69_37n	missense	48	30.99	22	SNP	1.000	C
THAP5	168451	genome.wustl.edu	37	7	108204998	108204998	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:108204998delA	ENST00000415914.3	-	3	978	c.825delT	c.(823-825)tttfs	p.F275fs	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Frame_Shift_Del_p.F233fs	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	275					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						CAGCAGGTACAAAAATGGCAA	0.323																																						dbGAP											0													76.0	81.0	79.0					7																	108204998		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.825delT	7.37:g.108204998delA	ENSP00000400500:p.Phe275fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.F275fs	ENST00000415914.3	37	c.825	CCDS47687.1	7																																																																																			THAP5	-	NULL	ENSG00000177683		0.323	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP5	HGNC	protein_coding	OTTHUMT00000337777.2	166	0.00	0	A	NM_182529		108204998	108204998	-1	no_errors	ENST00000415914	ensembl	human	known	69_37n	frame_shift_del	95	37.01	57	DEL	0.999	-
THBS2	7058	genome.wustl.edu	37	6	169648728	169648728	+	Silent	SNP	G	G	A	rs200136958		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:169648728G>A	ENST00000366787.3	-	4	642	c.393C>T	c.(391-393)gaC>gaT	p.D131D		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	131	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCCGGGTGCCGTCAATCCAGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18740	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(91;219 1934 18562 44706)	dbGAP											0													86.0	73.0	77.0					6																	169648728		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.393C>T	6.37:g.169648728G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.D131	ENST00000366787.3	37	c.393	CCDS34574.1	6																																																																																			THBS2	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000186340		0.652	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	35	0.00	0	G	NM_003247		169648728	169648728	-1	no_errors	ENST00000366787	ensembl	human	known	69_37n	silent	53	39.08	34	SNP	0.628	A
TICRR	90381	genome.wustl.edu	37	15	90167910	90167910	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:90167910A>G	ENST00000268138.7	+	20	4474	c.4369A>G	c.(4369-4371)Att>Gtt	p.I1457V	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Missense_Mutation_p.I1456V			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1457					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCCTCTGCTCATTACAAGTGA	0.537																																						dbGAP											0													85.0	74.0	78.0					15																	90167910		2200	4299	6499	-	-	-	SO:0001583	missense	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4369A>G	15.37:g.90167910A>G	ENSP00000268138:p.Ile1457Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.I1457V	ENST00000268138.7	37	c.4369	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	A	7.035	0.561473	0.13498	.	.	ENSG00000140534	ENST00000268138	T	0.07800	3.16	4.04	-1.6	0.08426	.	1.794010	0.02665	N	0.107926	T	0.08935	0.0221	L	0.50333	1.59	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.34950	-0.9808	10	0.26408	T	0.33	1.5328	5.2173	0.15350	0.5735:0.2577:0.1687:0.0	.	1457	Q7Z2Z1	TICRR_HUMAN	V	1457	ENSP00000268138:I1457V	ENSP00000268138:I1457V	I	+	1	0	C15orf42	87968914	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	0.324000	0.19610	-0.395000	0.07715	-0.290000	0.09829	ATT	TICRR	-	NULL	ENSG00000140534		0.537	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	121	0.00	0	A	NM_152259		90167910	90167910	+1	no_errors	ENST00000268138	ensembl	human	known	69_37n	missense	66	34.65	35	SNP	0.000	G
TIMP3	7078	genome.wustl.edu	37	22	33255232	33255232	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:33255232G>A	ENST00000266085.6	+	5	805	c.504G>A	c.(502-504)atG>atA	p.M168I	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	168	Mediates interaction with EFEMP1.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GGACCGACATGCTCTCCAATT	0.557																																						dbGAP											0													143.0	120.0	128.0					22																	33255232		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.504G>A	22.37:g.33255232G>A	ENSP00000266085:p.Met168Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.M168I	ENST00000266085.6	37	c.504	CCDS13911.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.37|16.37	3.102854|3.102854	0.56183|0.56183	.|.	.|.	ENSG00000100234|ENSG00000100234	ENST00000382049|ENST00000266085;ENST00000538671	.|D	.|0.93811	.|-3.29	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Tissue inhibitor of metalloproteinases-like, OB-fold (1);	.|0.079777	.|0.85682	.|D	.|0.000000	D|D	0.93171|0.93171	0.7825|0.7825	M|M	0.70595|0.70595	2.14|2.14	0.39725|0.39725	D|D	0.971523|0.971523	.|B	.|0.15930	.|0.015	.|B	.|0.22753	.|0.041	D|D	0.91120|0.91120	0.4929|0.4929	6|10	0.34782|0.59425	T|D	0.22|0.04	-9.5888|-9.5888	18.7704|18.7704	0.91890|0.91890	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|168	.|P35625	.|TIMP3_HUMAN	T|I	171|168;102	.|ENSP00000266085:M168I	ENSP00000371481:A171T|ENSP00000266085:M168I	A|M	+|+	1|3	0|0	TIMP3|TIMP3	31585232|31585232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.005000|0.005000	0.04900|0.04900	9.869000|9.869000	0.99810|0.99810	2.432000|2.432000	0.82394|0.82394	0.561000|0.561000	0.74099|0.74099	GCT|ATG	TIMP3	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP	ENSG00000100234		0.557	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	144	0.00	0	G	NM_000362		33255232	33255232	+1	no_errors	ENST00000266085	ensembl	human	known	69_37n	missense	83	39.42	54	SNP	1.000	A
TINAGL1	64129	genome.wustl.edu	37	1	32043047	32043047	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:32043047delC	ENST00000271064.7	+	2	374	c.298delC	c.(298-300)cccfs	p.P101fs	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_Frame_Shift_Del_p.P101fs|TINAGL1_ENST00000457433.2_Frame_Shift_Del_p.P101fs|TINAGL1_ENST00000441210.2_Frame_Shift_Del_p.P101fs|RP11-73M7.1_ENST00000435872.1_RNA	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	101					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACCCCCTTTTCCCCCGATCCA	0.597																																						dbGAP											0													74.0	66.0	69.0					1																	32043047		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.298delC	1.37:g.32043047delC	ENSP00000271064:p.Pro101fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Frame_Shift_Del	DEL	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.P101fs	ENST00000271064.7	37	c.298	CCDS343.1	1																																																																																			TINAGL1	-	NULL	ENSG00000142910		0.597	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1	51	0.00	0	C	NM_022164		32043047	32043047	+1	no_errors	ENST00000271064	ensembl	human	known	69_37n	frame_shift_del	39	35.48	22	DEL	0.855	-
TJP1	7082	genome.wustl.edu	37	15	30010790	30010790	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:30010790C>T	ENST00000346128.6	-	21	4030	c.3556G>A	c.(3556-3558)Gca>Aca	p.A1186T	TJP1_ENST00000356107.6_Missense_Mutation_p.A1186T|TJP1_ENST00000545208.2_Missense_Mutation_p.A1106T|TJP1_ENST00000400011.2_Missense_Mutation_p.A1110T	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1186					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTGGACTCTGCAGGCTTGGGC	0.557																																					Melanoma(77;681 1843 6309 6570)	dbGAP											0													64.0	68.0	67.0					15																	30010790		2049	4209	6258	-	-	-	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3556G>A	15.37:g.30010790C>T	ENSP00000281537:p.Ala1186Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin,prints_ZonOcculS1,prints_ZonOcculdens	p.A1186T	ENST00000346128.6	37	c.3556	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	C	8.295	0.818680	0.16607	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.05855	3.38;3.47	6.05	-5.39	0.02664	.	0.539001	0.22973	N	0.053408	T	0.02119	0.0066	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.49093	-0.8975	10	0.02654	T	1	.	0.9406	0.01355	0.256:0.3068:0.2412:0.196	.	1179;1106;1186;1110	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	T	1186;1110;1186;1106;1106	ENSP00000281537:A1186T;ENSP00000382890:A1110T	ENSP00000281537:A1186T	A	-	1	0	TJP1	27798082	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.098000	0.15189	-1.062000	0.03181	-1.099000	0.02127	GCA	TJP1	-	NULL	ENSG00000104067		0.557	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	74	0.00	0	C	NM_003257		30010790	30010790	-1	no_errors	ENST00000346128	ensembl	human	known	69_37n	missense	50	37.50	30	SNP	0.008	T
TKTL2	84076	genome.wustl.edu	37	4	164394543	164394544	+	Frame_Shift_Ins	INS	-	-	G	rs542641888	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:164394543_164394544insG	ENST00000280605.3	-	1	503_504	c.343_344insC	c.(343-345)cgafs	p.R115fs		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	115						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAACGGCAATCGGGGGGTAGGG	0.525													GGGGGG|GGGGGG|GGGGGGG|insertion	4	0.000798722	0.0	0.0	5008	,	,		20862	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.344dupC	4.37:g.164394549_164394549dupG	ENSP00000280605:p.Arg115fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVB4|Q8NCT0|Q96M82	Frame_Shift_Ins	INS	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.R115fs	ENST00000280605.3	37	c.344_343	CCDS3805.1	4																																																																																			TKTL2	-	pfam_Transketolase_N	ENSG00000151005		0.525	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	71	0.00	0	-	NM_032136		164394543	164394544	-1	no_errors	ENST00000280605	ensembl	human	known	69_37n	frame_shift_ins	48	25.00	16	INS	0.447:0.001	G
TLK2	11011	genome.wustl.edu	37	17	60678125	60678125	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:60678125C>T	ENST00000326270.9	+	19	1998	c.1730C>T	c.(1729-1731)gCt>gTt	p.A577V	TLK2_ENST00000582809.1_Missense_Mutation_p.A406V|TLK2_ENST00000343388.7_Missense_Mutation_p.A523V|TLK2_ENST00000542523.1_Missense_Mutation_p.A523V|TLK2_ENST00000346027.5_Missense_Mutation_p.A555V	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	577	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATTGTGAATGCTTTAAAGTAC	0.383																																						dbGAP											0													86.0	80.0	82.0					17																	60678125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1730C>T	17.37:g.60678125C>T	ENSP00000316512:p.Ala577Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	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	p.A577V	ENST00000326270.9	37	c.1730		17	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576040	0.65878	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.82	5.82	0.92795	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.65815	0.988;0.964;0.994;0.995	D;P;D;D	0.67548	0.926;0.885;0.925;0.952	T	0.53725	-0.8398	10	0.87932	D	0	.	19.0833	0.93192	0.0:1.0:0.0:0.0	.	577;523;555;555	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	V	555;523;577;523	ENSP00000275780:A555V;ENSP00000340800:A523V;ENSP00000316512:A577V;ENSP00000442311:A523V	ENSP00000316512:A577V	A	+	2	0	TLK2	58031857	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.753000	0.94483	0.467000	0.42956	GCT	TLK2	-	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	ENSG00000146872		0.383	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	82	0.00	0	C	NM_006852		60678125	60678125	+1	no_errors	ENST00000326270	ensembl	human	known	69_37n	missense	75	41.54	54	SNP	1.000	T
TLR2	7097	genome.wustl.edu	37	4	154624828	154624828	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:154624828A>G	ENST00000260010.6	+	1	2177	c.769A>G	c.(769-771)Aga>Gga	p.R257G		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	257					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GTTTACATTTAGAAATGTGAA	0.328																																						dbGAP											0													36.0	37.0	37.0					4																	154624828		2201	4300	6501	-	-	-	SO:0001583	missense	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.769A>G	4.37:g.154624828A>G	ENSP00000260010:p.Arg257Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom	p.R257G	ENST00000260010.6	37	c.769	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	A	15.61	2.883590	0.51908	.	.	ENSG00000137462	ENST00000260010	T	0.51817	0.69	5.61	3.09	0.35607	.	0.191776	0.45867	D	0.000334	T	0.47488	0.1448	M	0.69358	2.11	0.09310	N	0.999999	P	0.48764	0.915	B	0.42386	0.386	T	0.45920	-0.9228	10	0.72032	D	0.01	.	12.5415	0.56172	0.7272:0.2728:0.0:0.0	.	257	O60603	TLR2_HUMAN	G	257	ENSP00000260010:R257G	ENSP00000260010:R257G	R	+	1	2	TLR2	154844278	0.796000	0.28864	0.009000	0.14445	0.642000	0.38348	2.415000	0.44635	0.455000	0.26910	0.533000	0.62120	AGA	TLR2	-	pirsf_Toll-like_receptor	ENSG00000137462		0.328	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	151	0.00	0	A			154624828	154624828	+1	no_errors	ENST00000260010	ensembl	human	known	69_37n	missense	55	50.45	56	SNP	0.141	G
TLR2	7097	genome.wustl.edu	37	4	154625966	154625966	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:154625966G>A	ENST00000260010.6	+	1	3315	c.1907G>A	c.(1906-1908)aGc>aAc	p.S636N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	636			S -> R (in dbSNP:rs137853177). {ECO:0000269|PubMed:21618349}.		apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AAAGCTCCCAGCAGGAACATC	0.547																																						dbGAP											0													36.0	35.0	35.0					4																	154625966		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1907G>A	4.37:g.154625966G>A	ENSP00000260010:p.Ser636Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom	p.S636N	ENST00000260010.6	37	c.1907	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	G	0.223	-1.027206	0.02045	.	.	ENSG00000137462	ENST00000260010	T	0.31247	1.5	5.65	-9.62	0.00547	Toll/interleukin-1 receptor homology (TIR) domain (1);	2.245710	0.01490	N	0.017055	T	0.08846	0.0219	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18681	-1.0329	10	0.17369	T	0.5	.	3.7806	0.08679	0.2224:0.432:0.1997:0.1459	.	636	O60603	TLR2_HUMAN	N	636	ENSP00000260010:S636N	ENSP00000260010:S636N	S	+	2	0	TLR2	154845416	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.791000	0.04599	-2.698000	0.00400	-2.053000	0.00404	AGC	TLR2	-	pirsf_Toll-like_receptor,superfamily_TIR_dom,prints_IL1_rcpt_1	ENSG00000137462		0.547	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	131	0.00	0	G			154625966	154625966	+1	no_errors	ENST00000260010	ensembl	human	known	69_37n	missense	82	35.43	45	SNP	0.000	A
TMBIM1	64114	genome.wustl.edu	37	2	219141751	219141751	+	Silent	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:219141751A>T	ENST00000444881.1	-	11	1436	c.711T>A	c.(709-711)acT>acA	p.T237T	TMBIM1_ENST00000258412.3_Silent_p.T237T|PNKD_ENST00000273077.4_Intron|PNKD_ENST00000472650.1_Intron|TMBIM1_ENST00000396809.2_Silent_p.T237T|TMBIM1_ENST00000445635.1_Silent_p.T63T			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	237					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACAATGCTAGTGACAATCC	0.552																																						dbGAP											0													96.0	82.0	87.0					2																	219141751		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.711T>A	2.37:g.219141751A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Nonstop_Mutation	SNP	NULL	p.*216K	ENST00000444881.1	37	c.646	CCDS2412.1	2																																																																																			TMBIM1	-	NULL	ENSG00000135926		0.552	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMBIM1	HGNC	protein_coding	OTTHUMT00000338559.1	39	0.00	0	A	NM_022152		219141751	219141751	-1	no_errors	ENST00000437694	ensembl	human	known	69_37n	nonstop	31	31.11	14	SNP	0.426	T
TMBIM4	51643	genome.wustl.edu	37	12	66531837	66531837	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:66531837G>T	ENST00000358230.3	-	7	740	c.620C>A	c.(619-621)cCt>cAt	p.P207H	TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.P254H|TMBIM4_ENST00000542724.1_Missense_Mutation_p.P176H|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.P30H|TMBIM4_ENST00000556010.1_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	207					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GTACTCTTCAGGTGACAGTTT	0.413																																						dbGAP											0													126.0	123.0	124.0					12																	66531837		1950	4149	6099	-	-	-	SO:0001583	missense	0			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.620C>A	12.37:g.66531837G>T	ENSP00000350965:p.Pro207His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.P207H	ENST00000358230.3	37	c.620	CCDS41805.1	12	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920924	0.92249	.	.	ENSG00000155957	ENST00000358230;ENST00000544599;ENST00000286424;ENST00000539043;ENST00000539427;ENST00000542724	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.973;0.997;0.997	T	0.76391	-0.2976	9	.	.	.	-17.5441	20.5568	0.99304	0.0:0.0:1.0:0.0	.	254;176;207	G3XAA5;G3V1M2;Q9HC24	.;.;TMBI4_HUMAN	H	207;30;254;207;252;176	ENSP00000350965:P207H;ENSP00000444639:P30H;ENSP00000286424:P254H;ENSP00000441291:P176H	.	P	-	2	0	TMBIM4	64818104	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.690000	0.91272	2.861000	0.98227	0.655000	0.94253	CCT	TMBIM4	-	pfam_Bax_inhibitor_1-related	ENSG00000155957		0.413	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	189	0.00	0	G	NM_016056		66531837	66531837	-1	no_errors	ENST00000358230	ensembl	human	known	69_37n	missense	81	44.14	64	SNP	1.000	T
TMED8	283578	genome.wustl.edu	37	14	77808277	77808277	+	Missense_Mutation	SNP	C	C	T	rs556223514		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:77808277C>T	ENST00000216468.7	-	6	870	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	272	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTCCCCATAGCGACCCCGCAA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18836	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													65.0	53.0	57.0					14																	77808277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.815G>A	14.37:g.77808277C>T	ENSP00000216468:p.Arg272His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	superfamily_GOLD,pfscan_GOLD	p.R272H	ENST00000216468.7	37	c.815	CCDS32125.1	14	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936131	0.73442	.	.	ENSG00000100580	ENST00000216468	T	0.43688	0.94	6.08	6.08	0.98989	GOLD (2);	0.087507	0.85682	D	0.000000	T	0.35711	0.0941	L	0.45228	1.405	0.58432	D	0.99999	P	0.43314	0.803	B	0.37650	0.255	T	0.08513	-1.0718	10	0.35671	T	0.21	.	14.4413	0.67321	0.0:0.9292:0.0:0.0708	.	272	Q6PL24	TMED8_HUMAN	H	272	ENSP00000216468:R272H	ENSP00000216468:R272H	R	-	2	0	TMED8	76878030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.119000	0.41958	2.890000	0.99128	0.655000	0.94253	CGC	TMED8	-	superfamily_GOLD,pfscan_GOLD	ENSG00000100580		0.597	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED8	HGNC	protein_coding	OTTHUMT00000414100.1	82	0.00	0	C	NM_213601		77808277	77808277	-1	no_errors	ENST00000216468	ensembl	human	known	69_37n	missense	75	41.41	53	SNP	1.000	T
TMEM132D	121256	genome.wustl.edu	37	12	129559081	129559081	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:129559081G>T	ENST00000422113.2	-	9	2965	c.2639C>A	c.(2638-2640)aCc>aAc	p.T880N	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T418N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	880					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTGGGGATGGTCTGCAAGTG	0.567																																						dbGAP											0													89.0	87.0	88.0					12																	129559081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2639C>A	12.37:g.129559081G>T	ENSP00000408581:p.Thr880Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.T880N	ENST00000422113.2	37	c.2639	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	G	0	-2.679196	0.00102	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.09538	2.97;3.79	4.2	1.31	0.21738	.	0.087086	0.47093	D	0.000253	T	0.03053	0.0090	N	0.02674	-0.535	0.20563	N	0.999888	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.42932	-0.9422	9	.	.	.	-16.5663	4.0767	0.09908	0.274:0.0:0.4607:0.2653	.	880;418	Q14C87;Q14C87-2	T132D_HUMAN;.	N	418;880	ENSP00000374092:T418N;ENSP00000408581:T880N	.	T	-	2	0	TMEM132D	128125034	0.977000	0.34250	0.050000	0.19076	0.017000	0.09413	1.853000	0.39358	0.034000	0.15491	0.462000	0.41574	ACC	TMEM132D	-	NULL	ENSG00000151952		0.567	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	197	0.00	0	G	NM_133448		129559081	129559081	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	missense	100	41.86	72	SNP	0.167	T
TMEM177	80775	genome.wustl.edu	37	2	120438505	120438505	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:120438505G>T	ENST00000424086.1	+	2	549	c.76G>T	c.(76-78)Ggc>Tgc	p.G26C	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.G26C|TMEM177_ENST00000272521.6_Missense_Mutation_p.G26C|TMEM177_ENST00000409951.1_Missense_Mutation_p.G26C	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	26						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TTCCTGTGCAGGCCTGTTTGG	0.607																																						dbGAP											0													64.0	63.0	64.0					2																	120438505		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.76G>T	2.37:g.120438505G>T	ENSP00000402661:p.Gly26Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BT20	Missense_Mutation	SNP	NULL	p.G26C	ENST00000424086.1	37	c.76	CCDS2128.1	2	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129918	0.56721	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000445518;ENST00000409951;ENST00000415646	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	3.95	3.07	0.35406	.	0.051420	0.85682	D	0.000000	T	0.38214	0.1032	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.985	T	0.14615	-1.0466	10	0.62326	D	0.03	-5.8106	9.7235	0.40317	0.1042:0.0:0.8958:0.0	.	26;26	B8ZZT5;Q53S58	.;TM177_HUMAN	C	26	ENSP00000385966:G26C;ENSP00000402661:G26C;ENSP00000272521:G26C;ENSP00000405898:G26C;ENSP00000386430:G26C	ENSP00000272521:G26C	G	+	1	0	TMEM177	120154975	1.000000	0.71417	0.965000	0.40720	0.604000	0.37047	4.926000	0.63433	1.263000	0.44181	0.549000	0.68633	GGC	TMEM177	-	NULL	ENSG00000144120		0.607	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM177	HGNC	protein_coding	OTTHUMT00000330673.1	176	0.00	0	G	NM_030577		120438505	120438505	+1	no_errors	ENST00000272521	ensembl	human	known	69_37n	missense	78	46.31	69	SNP	0.994	T
TMEM180	79847	genome.wustl.edu	37	10	104233463	104233463	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:104233463G>A	ENST00000238936.4	+	8	1299	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	TMEM180_ENST00000366277.2_Silent_p.P83P	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	354						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGGCCGGCCCGGACCACCTCA	0.647																																						dbGAP											0													138.0	115.0	123.0					10																	104233463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1062G>A	10.37:g.104233463G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.P354	ENST00000238936.4	37	c.1062	CCDS7535.1	10																																																																																			TMEM180	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000138111		0.647	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM180	HGNC	protein_coding	OTTHUMT00000050075.2	52	0.00	0	G	NM_024789		104233463	104233463	+1	no_errors	ENST00000238936	ensembl	human	known	69_37n	silent	46	44.58	37	SNP	0.973	A
TMEM184C	55751	genome.wustl.edu	37	4	148554992	148554992	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:148554992A>G	ENST00000296582.3	+	9	1530	c.956A>G	c.(955-957)cAa>cGa	p.Q319R	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	319						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CCATATGTCCAAGAAGCAGAA	0.373																																						dbGAP											0													198.0	185.0	189.0					4																	148554992		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.956A>G	4.37:g.148554992A>G	ENSP00000296582:p.Gln319Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	pfam_Ost-alpha	p.Q319R	ENST00000296582.3	37	c.956	CCDS3770.1	4	.	.	.	.	.	.	.	.	.	.	A	13.19	2.164191	0.38217	.	.	ENSG00000164168	ENST00000296582	.	.	.	5.72	5.72	0.89469	.	0.050517	0.85682	D	0.000000	T	0.59810	0.2221	M	0.66939	2.045	0.80722	D	1	B	0.21381	0.055	B	0.15870	0.014	T	0.56780	-0.7922	9	0.15952	T	0.53	-12.424	16.3035	0.82836	1.0:0.0:0.0:0.0	.	319	Q9NVA4	T184C_HUMAN	R	319	.	ENSP00000296582:Q319R	Q	+	2	0	TMEM184C	148774442	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.678000	0.68153	2.299000	0.77371	0.528000	0.53228	CAA	TMEM184C	-	NULL	ENSG00000164168		0.373	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1	423	0.00	0	A	NM_018241		148554992	148554992	+1	no_errors	ENST00000296582	ensembl	human	known	69_37n	missense	242	35.20	132	SNP	1.000	G
TMEM200C	645369	genome.wustl.edu	37	18	5891698	5891698	+	Frame_Shift_Del	DEL	C	C	-	rs368367316		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:5891698delC	ENST00000581347.2	-	3	1010	c.365delG	c.(364-366)ggtfs	p.G122fs	RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Frame_Shift_Del_p.G122fs|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	122						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGAGTTGACACCCCCTGGAGC	0.692																																						dbGAP											0													48.0	59.0	56.0					18																	5891698		1994	4154	6148	-	-	-	SO:0001589	frameshift_variant	0				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.365delG	18.37:g.5891698delC	ENSP00000463375:p.Gly122fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_DUF2371_TMEM200	p.G122fs	ENST00000581347.2	37	c.365	CCDS45825.1	18																																																																																			TMEM200C	-	pfam_DUF2371_TMEM200	ENSG00000206432		0.692	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	17	0.00	0	C	NM_001080209		5891698	5891698	-1	no_errors	ENST00000383490	ensembl	human	known	69_37n	frame_shift_del	1	87.50	7	DEL	0.000	-
TMEM205	374882	genome.wustl.edu	37	19	11456197	11456197	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:11456197T>C	ENST00000354882.5	-	1	525	c.99A>G	c.(97-99)tcA>tcG	p.S33S	TMEM205_ENST00000587948.1_Splice_Site_p.S33S|CCDC159_ENST00000587100.1_Intron|TMEM205_ENST00000589555.1_Splice_Site_p.S33S|CCDC159_ENST00000588790.1_Intron|TMEM205_ENST00000586590.1_Splice_Site_p.S33S|TMEM205_ENST00000593256.2_Splice_Site_p.S33S|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000586956.1_Splice_Site_p.S33S|TMEM205_ENST00000447337.1_Splice_Site_p.S33S|CCDC159_ENST00000458408.1_5'Flank|TMEM205_ENST00000586218.1_Intron|TMEM205_ENST00000588560.1_Splice_Site_p.S33S			Q6UW68	TM205_HUMAN	transmembrane protein 205	33						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GGTCCCTACCTGAGACGAAGG	0.572																																						dbGAP											0													109.0	84.0	93.0					19																	11456197		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.100+1A>G	19.37:g.11456197T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.S33	ENST00000354882.5	37	c.99	CCDS32909.1	19																																																																																			TMEM205	-	NULL	ENSG00000105518		0.572	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM205	HGNC	protein_coding	OTTHUMT00000458743.1	87	0.00	0	T	NM_198536	Silent	11456197	11456197	-1	no_errors	ENST00000354882	ensembl	human	known	69_37n	silent	55	42.11	40	SNP	1.000	C
TMEM225	338661	genome.wustl.edu	37	11	123753877	123753878	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:123753877_123753878insT	ENST00000375026.2	-	4	861_862	c.645_646insA	c.(643-648)aaagtcfs	p.V216fs		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	216					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CGTGTTTGGACTTTTTTGTTTA	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.646dupA	11.37:g.123753883_123753883dupT	ENSP00000364166:p.Val216fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.V215fs	ENST00000375026.2	37	c.646_645	CCDS31697.1	11																																																																																			TMEM225	-	NULL	ENSG00000204300		0.416	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM225	HGNC	protein_coding	OTTHUMT00000387260.1	155	0.00	0	-	NM_001013743		123753877	123753878	-1	no_errors	ENST00000375026	ensembl	human	known	69_37n	frame_shift_ins	125	10.71	15	INS	0.000:0.000	T
TMEM38B	55151	genome.wustl.edu	37	9	108483828	108483828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:108483828delT	ENST00000374692.3	+	3	397	c.280delT	c.(280-282)tttfs	p.F95fs	TMEM38B_ENST00000374688.1_Frame_Shift_Del_p.F41fs	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	95						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GTATATTACATTTTTTTGCCC	0.343																																						dbGAP											0													65.0	61.0	62.0					9																	108483828		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.280delT	9.37:g.108483828delT	ENSP00000363824:p.Phe95fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Frame_Shift_Del	DEL	pfam_TRIC_channel	p.C96fs	ENST00000374692.3	37	c.280	CCDS6768.1	9																																																																																			TMEM38B	-	pfam_TRIC_channel	ENSG00000095209		0.343	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38B	HGNC	protein_coding	OTTHUMT00000053517.1	125	0.79	1	T	NM_018112		108483828	108483828	+1	no_errors	ENST00000374692	ensembl	human	known	69_37n	frame_shift_del	65	39.09	43	DEL	0.996	-
TMEM50A	23585	genome.wustl.edu	37	1	25667024	25667024	+	Frame_Shift_Del	DEL	G	G	-	rs147456847	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:25667024delG	ENST00000374358.4	+	2	600	c.47delG	c.(46-48)tggfs	p.W16fs	RNU6-1171P_ENST00000516706.1_RNA|TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	16						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TGCATTGACTGGGGGGAAAAG	0.378																																						dbGAP											0													119.0	106.0	110.0					1																	25667024		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.47delG	1.37:g.25667024delG	ENSP00000363478:p.Trp16fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_UPF0220	p.E18fs	ENST00000374358.4	37	c.47	CCDS264.1	1																																																																																			TMEM50A	-	pfam_UPF0220	ENSG00000183726		0.378	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50A	HGNC	protein_coding	OTTHUMT00000020313.1	120	0.00	0	G			25667024	25667024	+1	no_errors	ENST00000374358	ensembl	human	known	69_37n	frame_shift_del	76	36.07	44	DEL	1.000	-
TMEM39B	55116	genome.wustl.edu	37	1	32568087	32568087	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:32568087C>T	ENST00000336294.5	+	9	1438	c.1292C>T	c.(1291-1293)gCt>gTt	p.A431V	TMEM39B_ENST00000373634.4_Missense_Mutation_p.A232V|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	431						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGGAGGGCGCTGTCATTGTC	0.537																																						dbGAP											0													126.0	117.0	120.0					1																	32568087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1292C>T	1.37:g.32568087C>T	ENSP00000338165:p.Ala431Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM39	p.A431V	ENST00000336294.5	37	c.1292	CCDS351.2	1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290678	0.59976	.	.	ENSG00000121775	ENST00000336294;ENST00000373634	.	.	.	5.57	5.57	0.84162	.	0.046331	0.85682	D	0.000000	T	0.44871	0.1314	L	0.28344	0.845	0.58432	D	0.999999	B;B	0.20261	0.043;0.043	B;B	0.24394	0.053;0.053	T	0.28490	-1.0042	9	0.26408	T	0.33	-8.9794	13.1787	0.59642	0.0:0.927:0.0:0.073	.	431;304	Q9GZU3;Q9NW51	TM39B_HUMAN;.	V	431;232	.	ENSP00000338165:A431V	A	+	2	0	TMEM39B	32340674	0.716000	0.27956	0.983000	0.44433	0.995000	0.86356	1.565000	0.36386	2.793000	0.96121	0.655000	0.94253	GCT	TMEM39B	-	pfam_Uncharacterised_TMEM39	ENSG00000121775		0.537	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39B	HGNC	protein_coding	OTTHUMT00000011489.2	71	0.00	0	C	NM_018056		32568087	32568087	+1	no_errors	ENST00000336294	ensembl	human	known	69_37n	missense	70	42.62	52	SNP	1.000	T
TMEM63C	57156	genome.wustl.edu	37	14	77685865	77685865	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:77685865C>A	ENST00000298351.4	+	4	319	c.175C>A	c.(175-177)Ctc>Atc	p.L59I	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	59					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTACTCCTTCCTCCGGAAAGC	0.592																																						dbGAP											0													125.0	133.0	130.0					14																	77685865		2117	4234	6351	-	-	-	SO:0001583	missense	0				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.175C>A	14.37:g.77685865C>A	ENSP00000298351:p.Leu59Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	pfam_DUF221	p.L59I	ENST00000298351.4	37	c.175	CCDS45141.1	14	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914954	0.52546	.	.	ENSG00000165548	ENST00000554766;ENST00000298351	T;T	0.58652	0.32;0.32	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	L	0.49699	1.58	0.52099	D	0.999948	P	0.46578	0.88	P	0.53809	0.735	T	0.60994	-0.7152	10	0.37606	T	0.19	-27.5085	12.303	0.54884	0.0:1.0:0.0:0.0	.	59	Q9P1W3	TM63C_HUMAN	I	59	ENSP00000451842:L59I;ENSP00000298351:L59I	ENSP00000298351:L59I	L	+	1	0	TMEM63C	76755618	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.741000	0.55090	2.039000	0.60335	0.471000	0.43371	CTC	TMEM63C	-	NULL	ENSG00000165548		0.592	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	39	0.00	0	C			77685865	77685865	+1	no_errors	ENST00000298351	ensembl	human	known	69_37n	missense	22	61.40	35	SNP	1.000	A
TMEM68	137695	genome.wustl.edu	37	8	56675271	56675271	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:56675271G>A	ENST00000434581.2	-	3	447	c.248C>T	c.(247-249)gCc>gTc	p.A83V	TMEM68_ENST00000523073.1_Intron|TMEM68_ENST00000522576.1_Missense_Mutation_p.A83V|TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000521229.1_Missense_Mutation_p.A83V|TMEM68_ENST00000334667.2_Missense_Mutation_p.A83V			Q96MH6	TMM68_HUMAN	transmembrane protein 68	83						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			ATGAGAGTAGGCTTCTTTCAA	0.363																																						dbGAP											0													149.0	147.0	147.0					8																	56675271		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.248C>T	8.37:g.56675271G>A	ENSP00000395204:p.Ala83Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X6|Q8WUD2	Missense_Mutation	SNP	pfam_Acyltransferase	p.A83V	ENST00000434581.2	37	c.248		8	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797921	0.70567	.	.	ENSG00000167904	ENST00000434581;ENST00000334667;ENST00000522090;ENST00000522030;ENST00000523423;ENST00000520414;ENST00000521229;ENST00000522576	D;D;D	0.93189	-3.18;-3.18;-3.18	4.95	4.95	0.65309	.	0.053779	0.64402	D	0.000001	D	0.95582	0.8564	M	0.72118	2.19	0.58432	D	0.999994	D;P;B	0.89917	1.0;0.804;0.175	D;B;B	0.74023	0.982;0.225;0.098	D	0.94818	0.7984	10	0.45353	T	0.12	-9.6435	11.6771	0.51436	0.0:0.1317:0.7324:0.136	.	83;83;83	Q96MH6-3;Q96MH6-2;Q96MH6	.;.;TMM68_HUMAN	V	83	ENSP00000395204:A83V;ENSP00000335416:A83V;ENSP00000430542:A83V	ENSP00000335416:A83V	A	-	2	0	TMEM68	56837825	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.631000	0.54280	2.446000	0.82766	0.561000	0.74099	GCC	TMEM68	-	NULL	ENSG00000167904		0.363	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	TMEM68	HGNC	protein_coding	OTTHUMT00000378137.1	347	0.00	0	G	NM_152417		56675271	56675271	-1	no_errors	ENST00000434581	ensembl	human	known	69_37n	missense	194	42.77	145	SNP	0.986	A
TMEM74	157753	genome.wustl.edu	37	8	109797050	109797051	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:109797050_109797051insT	ENST00000297459.3	-	2	455_456	c.277_278insA	c.(277-279)atafs	p.I93fs	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	93					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTCCGCTGTTATTTGGTTGTTC	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.278dupA	8.37:g.109797053_109797053dupT	ENSP00000297459:p.Ile93fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	NULL	p.I93fs	ENST00000297459.3	37	c.278_277	CCDS6310.1	8																																																																																			TMEM74	-	NULL	ENSG00000164841		0.485	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	181	0.00	0	-	NM_153015		109797050	109797051	-1	no_errors	ENST00000297459	ensembl	human	known	69_37n	frame_shift_ins	92	37.41	55	INS	0.000:0.000	T
TMEM79	84283	genome.wustl.edu	37	1	156256189	156256189	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:156256189C>T	ENST00000405535.2	+	3	1067	c.896C>T	c.(895-897)gCc>gTc	p.A299V	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.A299V|TMEM79_ENST00000357501.2_Silent_p.G60G	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	299					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TTCAACCTGGCCGTGCTTTCC	0.607																																						dbGAP											0													160.0	161.0	161.0					1																	156256189		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.896C>T	1.37:g.156256189C>T	ENSP00000384748:p.Ala299Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE22|D3DVB8	Missense_Mutation	SNP	NULL	p.A299V	ENST00000405535.2	37	c.896	CCDS1138.1	1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081896	0.55861	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.43294	0.95;0.95	5.62	5.62	0.85841	.	0.578833	0.20053	N	0.100259	T	0.26011	0.0634	N	0.08118	0	0.42780	D	0.993866	D	0.56521	0.976	P	0.55667	0.781	T	0.10086	-1.0645	10	0.25106	T	0.35	2.9096	16.3903	0.83532	0.0:1.0:0.0:0.0	.	299	Q9BSE2	TMM79_HUMAN	V	299	ENSP00000295694:A299V;ENSP00000384748:A299V	ENSP00000295694:A299V	A	+	2	0	TMEM79	154522813	0.957000	0.32711	0.999000	0.59377	0.991000	0.79684	2.149000	0.42244	2.645000	0.89757	0.462000	0.41574	GCC	TMEM79	-	NULL	ENSG00000163472		0.607	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM79	HGNC	protein_coding	OTTHUMT00000052101.1	70	0.00	0	C	NM_032323		156256189	156256189	+1	no_errors	ENST00000295694	ensembl	human	known	69_37n	missense	125	22.84	37	SNP	0.993	T
TMEM95	339168	genome.wustl.edu	37	17	7259742	7259742	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:7259742G>A	ENST00000576060.1	+	6	468	c.441G>A	c.(439-441)ctG>ctA	p.L147L	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Missense_Mutation_p.A145T|TMEM95_ENST00000330767.4_Silent_p.L155L			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	147						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CCAAGATTCTGCTCCTCTCCA	0.567											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													191.0	190.0	190.0					17																	7259742		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.441G>A	17.37:g.7259742G>A		Somatic	640	WXS	Illumina GAIIx	Phase_IV	B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	NULL	p.A145T	ENST00000576060.1	37	c.433		17	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911975	0.52439	.	.	ENSG00000182896	ENST00000389982	.	.	.	5.34	1.88	0.25563	.	1.555220	0.04468	N	0.375482	T	0.46405	0.1391	.	.	.	0.80722	D	1	P	0.40731	0.728	B	0.39904	0.313	T	0.49051	-0.8979	8	0.48119	T	0.1	.	7.8631	0.29522	0.0921:0.2368:0.6711:0.0	.	145	Q3KNT9-3	.	T	145	.	ENSP00000374632:A145T	A	+	1	0	TMEM95	7200466	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.931000	0.28871	1.220000	0.43490	0.561000	0.74099	GCT	TMEM95	-	NULL	ENSG00000182896		0.567	TMEM95-003	KNOWN	basic	protein_coding	TMEM95	HGNC	protein_coding	OTTHUMT00000440555.2	319	0.00	0	G	NM_198154		7259742	7259742	+1	no_errors	ENST00000389982	ensembl	human	known	69_37n	missense	180	43.08	137	SNP	0.997	A
TMIGD1	388364	genome.wustl.edu	37	17	28652027	28652027	+	Silent	SNP	G	G	T	rs73989841	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:28652027G>T	ENST00000328886.4	-	4	519	c.447C>A	c.(445-447)ccC>ccA	p.P149P	TMIGD1_ENST00000538566.2_Silent_p.P149P	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	149	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TTTGAGCCTGGGGGTTGGCTT	0.448																																						dbGAP											0													152.0	138.0	143.0					17																	28652027		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.447C>A	17.37:g.28652027G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2K1|Q6ZMC6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P149	ENST00000328886.4	37	c.447	CCDS32605.1	17																																																																																			TMIGD1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000182271		0.448	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIGD1	HGNC	protein_coding	OTTHUMT00000447955.1	302	0.00	0	G	NM_206832		28652027	28652027	-1	no_errors	ENST00000328886	ensembl	human	known	69_37n	silent	187	37.87	114	SNP	0.983	T
TMPRSS15	5651	genome.wustl.edu	37	21	19726084	19726084	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:19726084C>T	ENST00000284885.3	-	9	1010	c.977G>A	c.(976-978)gGc>gAc	p.G326D		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	326	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGCATTAAAGCCAACATAATC	0.303																																						dbGAP											0													65.0	68.0	67.0					21																	19726084		2202	4291	6493	-	-	-	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.977G>A	21.37:g.19726084C>T	ENSP00000284885:p.Gly326Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_MAM_dom,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_ConA-like_lec_gl,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_CUB,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G326D	ENST00000284885.3	37	c.977	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490771	0.64074	.	.	ENSG00000154646	ENST00000284885	T	0.35789	1.29	4.46	4.46	0.54185	CUB (5);	0.000000	0.64402	D	0.000001	T	0.72566	0.3476	H	0.96916	3.905	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.83328	-0.0014	9	.	.	.	.	15.8502	0.78924	0.0:1.0:0.0:0.0	.	326	P98073	ENTK_HUMAN	D	326	ENSP00000284885:G326D	.	G	-	2	0	TMPRSS15	18647955	0.998000	0.40836	0.965000	0.40720	0.745000	0.42441	4.731000	0.62022	2.318000	0.78349	0.555000	0.69702	GGC	TMPRSS15	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000154646		0.303	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	131	0.00	0	C	NM_002772		19726084	19726084	-1	no_errors	ENST00000284885	ensembl	human	known	69_37n	missense	63	29.21	26	SNP	1.000	T
TMPRSS6	164656	genome.wustl.edu	37	22	37470731	37470731	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:37470731G>T	ENST00000346753.3	-	12	1503	c.1387C>A	c.(1387-1389)Ctc>Atc	p.L463I	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.L454I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.L454I|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.L454I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	463	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACAGAACAGAGGAACTCTCCA	0.622																																						dbGAP											0													111.0	82.0	92.0					22																	37470731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1387C>A	22.37:g.37470731G>T	ENSP00000334962:p.Leu463Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6	p.L454I	ENST00000346753.3	37	c.1360	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601119	0.66332	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.24	5.24	0.73138	.	0.146811	0.47093	D	0.000260	T	0.61615	0.2361	L	0.52573	1.65	0.48341	D	0.999637	P;P	0.51791	0.948;0.914	P;P	0.52823	0.71;0.517	T	0.61277	-0.7095	10	0.42905	T	0.14	.	12.2138	0.54394	0.0787:0.0:0.9213:0.0	.	454;463	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	I	454;463;454;454	ENSP00000371211:L454I;ENSP00000334962:L463I;ENSP00000385453:L454I;ENSP00000384964:L454I	ENSP00000334962:L463I	L	-	1	0	TMPRSS6	35800677	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	4.823000	0.62694	2.443000	0.82685	0.462000	0.41574	CTC	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000187045		0.622	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	22	0.00	0	G	NM_153609		37470731	37470731	-1	no_errors	ENST00000381792	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	1.000	T
TNFRSF1B	7133	genome.wustl.edu	37	1	12266990	12266990	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:12266990G>A	ENST00000376259.3	+	10	1388	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	433					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	TTCGGTCACAGCTGGAGACGC	0.617																																						dbGAP											0													101.0	98.0	99.0					1																	12266990		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1299G>A	1.37:g.12266990G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.Q433	ENST00000376259.3	37	c.1299	CCDS145.1	1																																																																																			TNFRSF1B	-	NULL	ENSG00000028137		0.617	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	95	0.00	0	G	NM_001066		12266990	12266990	+1	no_errors	ENST00000376259	ensembl	human	known	69_37n	silent	61	39.60	40	SNP	0.000	A
TNFSF13	8741	genome.wustl.edu	37	17	7463398	7463398	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:7463398C>T	ENST00000338784.4	+	4	861	c.418C>T	c.(418-420)Cca>Tca	p.P140S	TNFSF13_ENST00000396545.4_Missense_Mutation_p.P140S|TNFSF13_ENST00000349228.4_Missense_Mutation_p.P124S|TNFSF13_ENST00000380535.4_Missense_Mutation_p.P112S|TNFSF12_ENST00000557233.1_Missense_Mutation_p.P220S|TNFSF13_ENST00000396542.1_Missense_Mutation_p.P95S|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.P220S|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000483039.1_Missense_Mutation_p.P4S|SENP3_ENST00000429205.2_5'Flank	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	140					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				GATGTGGCAACCAGCTCTTAG	0.537											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													107.0	101.0	103.0					17																	7463398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.418C>T	17.37:g.7463398C>T	ENSP00000343505:p.Pro140Ser	Somatic	641	WXS	Illumina GAIIx	Phase_IV	A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.P220S	ENST00000338784.4	37	c.658	CCDS11111.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122266	0.77436	.	.	ENSG00000239697;ENSG00000248871;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955;ENSG00000161955	ENST00000557233;ENST00000293826;ENST00000396542;ENST00000438470;ENST00000436057;ENST00000349228;ENST00000338784;ENST00000380535;ENST00000396545	D;D;D;T;T;D;D;D;D	0.97279	-4.29;-4.29;-4.32;1.51;1.48;-3.75;-3.75;-4.32;-3.75	5.24	5.24	0.73138	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.288808	0.34088	N	0.004264	D	0.96309	0.8796	L	0.48362	1.52	0.35460	D	0.79646	D;D;P;P;P;D	0.69078	0.997;0.997;0.888;0.956;0.89;0.966	P;P;B;P;B;P	0.55785	0.784;0.784;0.244;0.463;0.265;0.517	D	0.95754	0.8794	10	0.09084	T	0.74	-4.2773	15.7407	0.77894	0.0:1.0:0.0:0.0	.	112;113;124;140;140;220	B4DVT2;Q2QBA2;O75888-2;O75888;O75888-3;Q8IZK7	.;.;.;TNF13_HUMAN;.;.	S	220;220;95;107;123;124;140;112;140	ENSP00000451451:P220S;ENSP00000293826:P220S;ENSP00000379792:P95S;ENSP00000390771:P107S;ENSP00000410094:P123S;ENSP00000314455:P124S;ENSP00000343505:P140S;ENSP00000369908:P112S;ENSP00000379794:P140S	ENSP00000293826:P220S	P	+	1	0	TNFSF13;TNFSF12-TNFSF13;TNFSF12	7404122	0.940000	0.31905	1.000000	0.80357	0.968000	0.65278	1.549000	0.36212	2.441000	0.82636	0.561000	0.74099	CCA	TNFSF12-TNFSF13	-	superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	ENSG00000248871		0.537	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF12-TNFSF13	HGNC	protein_coding	OTTHUMT00000226948.2	167	0.00	0	C	NM_003808		7463398	7463398	+1	no_errors	ENST00000293826	ensembl	human	known	69_37n	missense	115	33.53	58	SNP	0.999	T
TNKS2	80351	genome.wustl.edu	37	10	93605681	93605681	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:93605681C>T	ENST00000371627.4	+	18	2721	c.2342C>T	c.(2341-2343)cCt>cTt	p.P781L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	781					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GGACAAACACCTTTAGATTTA	0.388																																						dbGAP											0													68.0	69.0	68.0					10																	93605681		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2342C>T	10.37:g.93605681C>T	ENSP00000360689:p.Pro781Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.P781L	ENST00000371627.4	37	c.2342	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.499541	0.96355	.	.	ENSG00000107854	ENST00000371627	T	0.75477	-0.94	6.02	6.02	0.97574	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000011	T	0.81250	0.4783	L	0.55990	1.75	0.80722	D	1	D	0.59767	0.986	P	0.54026	0.74	T	0.81876	-0.0731	10	0.87932	D	0	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	781	Q9H2K2	TNKS2_HUMAN	L	781	ENSP00000360689:P781L	ENSP00000360689:P781L	P	+	2	0	TNKS2	93595661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.850000	0.98022	0.650000	0.86243	CCT	TNKS2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.388	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	140	0.00	0	C	NM_025235		93605681	93605681	+1	no_errors	ENST00000371627	ensembl	human	known	69_37n	missense	67	40.18	45	SNP	1.000	T
TNR	7143	genome.wustl.edu	37	1	175372477	175372477	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:175372477C>T	ENST00000367674.2	-	4	1483	c.775G>A	c.(775-777)Gag>Aag	p.E259K	TNR_ENST00000263525.2_Missense_Mutation_p.E259K			Q92752	TENR_HUMAN	tenascin R	259	Cys-rich.|EGF-like 3.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGCAGTCCTCGCCAGTGTAG	0.627																																						dbGAP											0													114.0	79.0	91.0					1																	175372477		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.775G>A	1.37:g.175372477C>T	ENSP00000356646:p.Glu259Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.E259K	ENST00000367674.2	37	c.775	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558095	0.65538	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.03242	4.0;4.0	6.17	4.26	0.50523	EGF, extracellular (1);EGF-like region, conserved site (2);	0.222293	0.45126	N	0.000385	T	0.07773	0.0195	M	0.75150	2.29	0.45930	D	0.998769	D;B	0.53885	0.963;0.35	P;B	0.46419	0.516;0.1	T	0.11372	-1.0590	10	0.45353	T	0.12	.	7.8724	0.29573	0.0:0.6977:0.1628:0.1395	.	259;259	B4DIX8;Q92752	.;TENR_HUMAN	K	259	ENSP00000356646:E259K;ENSP00000263525:E259K	ENSP00000263525:E259K	E	-	1	0	TNR	173639100	0.831000	0.29352	1.000000	0.80357	0.998000	0.95712	2.119000	0.41958	0.848000	0.35191	0.655000	0.94253	GAG	TNR	-	pfam_EGF_extracell,smart_EGF-like	ENSG00000116147		0.627	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	68	0.00	0	C	NM_003285		175372477	175372477	-1	no_errors	ENST00000263525	ensembl	human	known	69_37n	missense	77	38.40	48	SNP	1.000	T
TNRC18	84629	genome.wustl.edu	37	7	5353439	5353439	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:5353439delG	ENST00000430969.1	-	27	7431	c.7083delC	c.(7081-7083)cccfs	p.P2361fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.P2361fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2361	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCAGGGCTAAGGGGGTACTGG	0.667																																						dbGAP											0													22.0	23.0	23.0					7																	5353439		1487	3470	4957	-	-	-	SO:0001589	frameshift_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7083delC	7.37:g.5353439delG	ENSP00000395538:p.Pro2361fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.L2362fs	ENST00000430969.1	37	c.7083	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.667	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		47	0.00	0	G			5353439	5353439	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	frame_shift_del	27	22.86	8	DEL	0.001	-
TNRC6B	23112	genome.wustl.edu	37	22	40662371	40662371	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:40662371C>T	ENST00000454349.2	+	5	2348	c.2137C>T	c.(2137-2139)Cga>Tga	p.R713*	TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.R713*|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	713	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R727*(1)		breast(1)	1						GGGAGGAGGACGACCTGATGA	0.532																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											30.0	32.0	31.0					22																	40662371		1929	4141	6070	-	-	-	SO:0001587	stop_gained	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2137C>T	22.37:g.40662371C>T	ENSP00000401946:p.Arg713*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.R713*	ENST00000454349.2	37	c.2137	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	C	37	6.555179	0.97658	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.55	3.33	0.38152	.	0.350500	0.30085	N	0.010446	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-5.2574	12.9743	0.58529	0.4104:0.5896:0.0:0.0	.	.	.	.	X	713	.	ENSP00000338371:R713X	R	+	1	2	TNRC6B	38992317	0.993000	0.37304	0.802000	0.32245	0.747000	0.42532	2.955000	0.49121	1.312000	0.45043	0.462000	0.41574	CGA	TNRC6B	-	NULL	ENSG00000100354		0.532	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		85	0.00	0	C			40662371	40662371	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	nonsense	37	55.42	46	SNP	0.265	T
TNXB	7148	genome.wustl.edu	37	6	32029249	32029249	+	Missense_Mutation	SNP	G	G	A	rs373029180	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:32029249G>A	ENST00000375244.3	-	21	7618	c.7417C>T	c.(7417-7419)Cgc>Tgc	p.R2473C	TNXB_ENST00000375247.2_Missense_Mutation_p.R2473C			P22105	TENX_HUMAN	tenascin XB	2533	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTGTATTTGCGCCCAGGCTCC	0.682													G|||	19	0.00379393	0.0008	0.0	5008	,	,		16775	0.002		0.0	False		,,,				2504	0.0164					dbGAP											0													84.0	97.0	93.0					6																	32029249		1276	2542	3818	-	-	-	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7417C>T	6.37:g.32029249G>A	ENSP00000364393:p.Arg2473Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R2473C	ENST00000375244.3	37	c.7417		6	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046720	0.55110	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58940	0.3;0.3	4.28	4.28	0.50868	.	0.626671	0.15208	N	0.274653	T	0.65801	0.2726	M	0.80982	2.52	0.26499	N	0.974796	D	0.76494	0.999	P	0.61397	0.888	T	0.59257	-0.7488	10	0.56958	D	0.05	.	13.7478	0.62885	0.0:0.0:1.0:0.0	.	2473	P22105-3	.	C	2473	ENSP00000364393:R2473C;ENSP00000364396:R2473C	ENSP00000364393:R2473C	R	-	1	0	TNXB	32137227	0.009000	0.17119	0.529000	0.27951	0.213000	0.24496	1.773000	0.38563	2.201000	0.70794	0.591000	0.81541	CGC	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.682	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	26	0.00	0	G	NM_019105		32029249	32029249	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	30	36.73	18	SNP	0.672	A
TNXB	7148	genome.wustl.edu	37	6	32057126	32057126	+	Missense_Mutation	SNP	G	G	A	rs563472994		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:32057126G>A	ENST00000375244.3	-	5	2590	c.2389C>T	c.(2389-2391)Cgg>Tgg	p.R797W	TNXB_ENST00000375247.2_Missense_Mutation_p.R797W			P22105	TENX_HUMAN	tenascin XB	749	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTTGGAACCCGTGCTGTGAAT	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18737	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													33.0	37.0	36.0					6																	32057126		1959	4151	6110	-	-	-	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2389C>T	6.37:g.32057126G>A	ENSP00000364393:p.Arg797Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R797W	ENST00000375244.3	37	c.2389		6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986175	0.74589	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58358	0.34;0.34	5.3	4.41	0.53225	.	0.000000	0.45606	D	0.000345	T	0.48466	0.1501	L	0.29908	0.895	0.28331	N	0.921795	D	0.89917	1.0	D	0.97110	1.0	T	0.50566	-0.8813	10	0.72032	D	0.01	.	13.5067	0.61486	0.0:0.1578:0.8422:0.0	.	797	P22105-3	.	W	797	ENSP00000364393:R797W;ENSP00000364396:R797W	ENSP00000364393:R797W	R	-	1	2	TNXB	32165104	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.046000	0.57376	1.414000	0.47017	0.563000	0.77884	CGG	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	28	0.00	0	G	NM_019105		32057126	32057126	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	11	50.00	11	SNP	0.998	A
TOP2A	7153	genome.wustl.edu	37	17	38552591	38552591	+	Nonsense_Mutation	SNP	G	G	A	rs572906357		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:38552591G>A	ENST00000423485.1	-	28	3822	c.3664C>T	c.(3664-3666)Cga>Tga	p.R1222*		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1222					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATGGTTATTCGTGGAATGACT	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19131	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													64.0	57.0	59.0					17																	38552591		1843	4079	5922	-	-	-	SO:0001587	stop_gained	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.3664C>T	17.37:g.38552591G>A	ENSP00000411532:p.Arg1222*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Nonsense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.R1222*	ENST00000423485.1	37	c.3664	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.748053	0.97809	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	.	.	.	5.68	3.61	0.41365	.	0.267905	0.37623	N	0.002020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	6.5313	0.22328	0.0697:0.13:0.6656:0.1347	.	.	.	.	X	1222;1302;1245;1258	.	ENSP00000269577:R1302X	R	-	1	2	TOP2A	35806117	0.328000	0.24687	0.009000	0.14445	0.187000	0.23431	3.315000	0.51951	0.686000	0.31488	0.563000	0.77884	CGA	TOP2A	-	NULL	ENSG00000131747		0.428	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	102	0.00	0	G			38552591	38552591	-1	no_errors	ENST00000423485	ensembl	human	known	69_37n	nonsense	73	41.13	51	SNP	0.075	A
TOR1B	27348	genome.wustl.edu	37	9	132569561	132569561	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:132569561T>C	ENST00000259339.2	+	3	620	c.560T>C	c.(559-561)aTt>aCt	p.I187T		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	187					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCCGGGATCATTGACGCAATC	0.493																																						dbGAP											0													194.0	182.0	186.0					9																	132569561		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.560T>C	9.37:g.132569561T>C	ENSP00000259339:p.Ile187Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Torsin,pfam_ATPase_AAA_core,pirsf_Torsin_subgr	p.I187T	ENST00000259339.2	37	c.560	CCDS6929.1	9	.	.	.	.	.	.	.	.	.	.	T	28.1	4.893005	0.91889	.	.	ENSG00000136816	ENST00000259339;ENST00000437263	T	0.30981	1.51	5.28	5.28	0.74379	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.70773	-0.4781	10	0.62326	D	0.03	-8.1129	14.3982	0.67025	0.0:0.0:0.0:1.0	.	187	O14657	TOR1B_HUMAN	T	187;156	ENSP00000259339:I187T	ENSP00000259339:I187T	I	+	2	0	TOR1B	131609382	1.000000	0.71417	0.819000	0.32651	0.982000	0.71751	7.598000	0.82745	2.000000	0.58554	0.459000	0.35465	ATT	TOR1B	-	pfam_ATPase_AAA_core,pirsf_Torsin_subgr	ENSG00000136816		0.493	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1B	HGNC	protein_coding	OTTHUMT00000054615.1	126	0.00	0	T	NM_014506		132569561	132569561	+1	no_errors	ENST00000259339	ensembl	human	known	69_37n	missense	52	44.68	42	SNP	1.000	C
TP53BP1	7158	genome.wustl.edu	37	15	43748849	43748849	+	Missense_Mutation	SNP	T	T	C	rs45443496		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:43748849T>C	ENST00000263801.3	-	12	2194	c.1942A>G	c.(1942-1944)Atg>Gtg	p.M648V	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382044.4_Missense_Mutation_p.M653V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.M653V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.M653V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	648			M -> V (in dbSNP:rs45443496). {ECO:0000269|Ref.4}.		cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTAATTTCCATAGCTTCCTCC	0.473								Other conserved DNA damage response genes					T|||	1	0.000199681	0.0	0.0	5008	,	,		21006	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													105.0	107.0	106.0					15																	43748849		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1942A>G	15.37:g.43748849T>C	ENSP00000263801:p.Met648Val	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.M653V	ENST00000263801.3	37	c.1957	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698879	0.30142	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	4.82	3.61	0.41365	.	0.122177	0.49305	D	0.000151	T	0.36331	0.0963	L	0.29908	0.895	0.27788	N	0.942923	B;B;B;B	0.13594	0.008;0.003;0.006;0.006	B;B;B;B	0.15484	0.013;0.001;0.003;0.003	T	0.14282	-1.0478	10	0.18276	T	0.48	-2.3812	10.2772	0.43517	0.0:0.0:0.2446:0.7554	rs45443496	653;648;653;653	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	V	648;653;653;653;653	ENSP00000263801:M648V;ENSP00000371475:M653V;ENSP00000371470:M653V;ENSP00000393497:M653V;ENSP00000388028:M653V	ENSP00000263801:M648V	M	-	1	0	TP53BP1	41536141	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.407000	0.34657	1.918000	0.55548	0.460000	0.39030	ATG	TP53BP1	-	NULL	ENSG00000067369		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	223	0.00	0	T			43748849	43748849	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	161	43.11	122	SNP	1.000	C
TPM2	7169	genome.wustl.edu	37	9	35684275	35684275	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:35684275G>A	ENST00000360958.2	-	8	844	c.740C>T	c.(739-741)gCa>gTa	p.A247V	TPM2_ENST00000329305.2_Missense_Mutation_p.A247V|TPM2_ENST00000378292.3_Missense_Mutation_p.A247V|TPM2_ENST00000378300.5_Missense_Mutation_p.A247V	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	247					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCAACTTTGCCACAGACCT	0.502																																						dbGAP											0													89.0	78.0	81.0					9																	35684275		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.740C>T	9.37:g.35684275G>A	ENSP00000354219:p.Ala247Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.A247V	ENST00000360958.2	37	c.740	CCDS6587.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074180	0.76415	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.97378	-4.36;-2.32;-2.32;-4.36	5.0	5.0	0.66597	.	.	.	.	.	D	0.95953	0.8682	M	0.63169	1.94	0.58432	D	0.999999	B;B;B;B	0.23990	0.014;0.006;0.095;0.003	B;B;B;B	0.28849	0.042;0.019;0.095;0.081	D	0.94086	0.7348	9	0.26408	T	0.33	-2.6382	18.1084	0.89527	0.0:0.0:1.0:0.0	.	247;247;247;247	A7XZE4;P07951;Q5TCU8;P07951-2	.;TPM2_HUMAN;.;.	V	247	ENSP00000367550:A247V;ENSP00000367542:A247V;ENSP00000367541:A247V;ENSP00000354219:A247V	ENSP00000367541:A247V	A	-	2	0	TPM2	35674275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.597000	0.98273	2.579000	0.87056	0.563000	0.77884	GCA	TPM2	-	pfam_Tropomyosin,prints_Tropomyosin	ENSG00000198467		0.502	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	96	0.00	0	G	NM_003289		35684275	35684275	-1	no_errors	ENST00000378300	ensembl	human	known	69_37n	missense	90	36.62	52	SNP	1.000	A
TPST2	8459	genome.wustl.edu	37	22	26932298	26932299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:26932298_26932299insG	ENST00000338754.4	-	4	1266_1267	c.996_997insC	c.(994-999)cccaacfs	p.N333fs	TPST2_ENST00000403880.1_Frame_Shift_Ins_p.N333fs|TPST2_ENST00000398110.2_Frame_Shift_Ins_p.N333fs	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	333					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTTG	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.997dupC	22.37:g.26932305_26932305dupG	ENSP00000339813:p.Asn333fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQA7|Q6FI98|Q9H0V4	Frame_Shift_Ins	INS	pfam_Sulfotransferase_dom	p.N332fs	ENST00000338754.4	37	c.997_996	CCDS13839.1	22																																																																																			TPST2	-	NULL	ENSG00000128294		0.584	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	26	0.00	0	-	NM_003595		26932298	26932299	-1	no_errors	ENST00000338754	ensembl	human	known	69_37n	frame_shift_ins	12	47.83	11	INS	1.000:0.999	G
TRAF3IP1	26146	genome.wustl.edu	37	2	239237830	239237830	+	Frame_Shift_Del	DEL	G	G	-	rs150462938		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:239237830delG	ENST00000373327.4	+	5	984	c.762delG	c.(760-762)gagfs	p.E254fs	TRAF3IP1_ENST00000391994.2_Frame_Shift_Del_p.E254fs|TRAF3IP1_ENST00000391993.3_Frame_Shift_Del_p.E254fs	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	254	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		gaaagagtgagggggggaaag	0.597																																						dbGAP											0													76.0	83.0	81.0					2																	239237830		2200	4299	6499	-	-	-	SO:0001589	frameshift_variant	0			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.762delG	2.37:g.239237830delG	ENSP00000362424:p.Glu254fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Frame_Shift_Del	DEL	pfam_Microtubule/TRAF3/DISC1-bd	p.K257fs	ENST00000373327.4	37	c.762	CCDS33415.1	2																																																																																			TRAF3IP1	-	pfam_Microtubule/TRAF3/DISC1-bd	ENSG00000204104		0.597	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1	33	0.00	0	G	NM_015650		239237830	239237830	+1	no_errors	ENST00000373327	ensembl	human	known	69_37n	frame_shift_del	46	29.85	20	DEL	0.019	-
TRAT1	50852	genome.wustl.edu	37	3	108557811	108557811	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:108557811C>T	ENST00000295756.6	+	3	379	c.149C>T	c.(148-150)aCc>aTc	p.T50I	TRAT1_ENST00000426646.1_Missense_Mutation_p.T13I|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	50					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGTGACCACACCAGGTATGTT	0.318																																						dbGAP											0													101.0	98.0	99.0					3																	108557811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.149C>T	3.37:g.108557811C>T	ENSP00000295756:p.Thr50Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZX5	Missense_Mutation	SNP	NULL	p.T50I	ENST00000295756.6	37	c.149	CCDS33813.1	3	.	.	.	.	.	.	.	.	.	.	C	0.504	-0.869704	0.02570	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.36340	1.26;1.65	4.16	1.34	0.21922	.	0.705369	0.13120	N	0.412310	T	0.07999	0.0200	N	0.00677	-1.265	0.23620	N	0.997271	B;B	0.13594	0.008;0.008	B;B	0.16289	0.015;0.015	T	0.36432	-0.9748	10	0.02654	T	1	.	3.58	0.07949	0.1972:0.5927:0.0:0.2102	.	13;50	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	I	50;13	ENSP00000295756:T50I;ENSP00000410097:T13I	ENSP00000295756:T50I	T	+	2	0	TRAT1	110040501	0.998000	0.40836	0.995000	0.50966	0.902000	0.53008	0.564000	0.23563	0.290000	0.22444	0.591000	0.81541	ACC	TRAT1	-	NULL	ENSG00000163519		0.318	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAT1	HGNC	protein_coding	OTTHUMT00000353794.1	121	0.00	0	C	NM_016388		108557811	108557811	+1	no_errors	ENST00000295756	ensembl	human	known	69_37n	missense	70	38.05	43	SNP	0.996	T
TRBV5-4	28611	genome.wustl.edu	37	7	142168832	142168832	+	RNA	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:142168832G>A	ENST00000454561.2	-	0	213									T cell receptor beta variable 5-4																		CAGCAGAGGAGCCCAGGGCCC	0.607																																						dbGAP											0																																										-	-	-			0			L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168832G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L5F	ENST00000454561.2	37	c.13		7																																																																																			TRBV5-4	-	NULL	ENSG00000230099		0.607	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV5-4	HGNC	TR_V_gene	OTTHUMT00000351230.2	74	0.00	0	G	NG_001333		142168832	142168832	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000454561	ensembl	human	known	69_37n	missense	55	46.60	48	SNP	0.000	A
TRBV25-1	28562	genome.wustl.edu	37	7	142378818	142378818	+	RNA	SNP	A	A	G	rs576515037		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:142378818A>G	ENST00000390398.3	+	0	123									T cell receptor beta variable 25-1																		ACCCCAAGATACCTTGTTATA	0.448																																						dbGAP											0													148.0	140.0	142.0					7																	142378818		1905	4111	6016	-	-	-			0			L27610		7q34	2012-02-07			ENSG00000211751	ENSG00000211751		"""T cell receptors / TRB locus"""	12205	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV251, TCRBV11S1A1T, TCRBV25S1			OTTHUMG00000158868		7.37:g.142378818A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.Y29C	ENST00000390398.3	37	c.86		7																																																																																			TRBV25-1	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211751		0.448	TRBV25-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV25-1	HGNC	TR_V_gene	OTTHUMT00000352476.2	315	0.32	1	A	NG_001333		142378818	142378818	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390398	ensembl	human	known	69_37n	missense	237	44.65	192	SNP	0.001	G
TRDN	10345	genome.wustl.edu	37	6	123653063	123653063	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:123653063C>T	ENST00000398178.3	-	23	1453	c.1432G>A	c.(1432-1434)Ggg>Agg	p.G478R	TRDN_ENST00000334268.4_Missense_Mutation_p.G478R	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	478					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCTTCTTTCCCTTTAATAGGT	0.333																																						dbGAP											0													66.0	62.0	63.0					6																	123653063		1783	4035	5818	-	-	-	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1432G>A	6.37:g.123653063C>T	ENSP00000381240:p.Gly478Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.G478R	ENST00000398178.3	37	c.1432	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	C	8.371	0.835417	0.16820	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.18338	2.22;2.22	4.71	4.71	0.59529	.	0.613690	0.13541	N	0.380177	T	0.04452	0.0122	N	0.08118	0	0.52501	D	0.999959	P	0.36065	0.535	B	0.37833	0.259	T	0.43475	-0.9389	10	0.20046	T	0.44	-0.5336	13.3447	0.60566	0.0:1.0:0.0:0.0	.	478	Q13061	TRDN_HUMAN	R	478;480;478	ENSP00000381240:G478R;ENSP00000333984:G478R	ENSP00000333984:G478R	G	-	1	0	TRDN	123694762	0.013000	0.17824	0.007000	0.13788	0.399000	0.30720	2.215000	0.42862	2.594000	0.87642	0.650000	0.86243	GGG	TRDN	-	NULL	ENSG00000186439		0.333	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		16	0.00	0	C			123653063	123653063	-1	no_errors	ENST00000398178	ensembl	human	known	69_37n	missense	2	75.00	6	SNP	0.016	T
TRHDE	29953	genome.wustl.edu	37	12	72956006	72956006	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:72956006C>T	ENST00000261180.4	+	8	1811	c.1715C>T	c.(1714-1716)tCg>tTg	p.S572L	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	572					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATACATTATCGGAGGTAAAG	0.294																																						dbGAP											0													39.0	41.0	40.0					12																	72956006		2200	4270	6470	-	-	-	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1715C>T	12.37:g.72956006C>T	ENSP00000261180:p.Ser572Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S572L	ENST00000261180.4	37	c.1715	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929551	0.73327	.	.	ENSG00000072657	ENST00000261180	T	0.04917	3.53	5.98	5.98	0.97165	.	0.136867	0.51477	D	0.000086	T	0.14657	0.0354	M	0.86651	2.83	0.52501	D	0.999955	P	0.48998	0.918	B	0.36567	0.228	T	0.07986	-1.0744	10	0.66056	D	0.02	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	572	Q9UKU6	TRHDE_HUMAN	L	572	ENSP00000261180:S572L	ENSP00000261180:S572L	S	+	2	0	TRHDE	71242273	1.000000	0.71417	0.994000	0.49952	0.801000	0.45260	3.962000	0.56766	2.838000	0.97847	0.591000	0.81541	TCG	TRHDE	-	NULL	ENSG00000072657		0.294	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	87	0.00	0	C	NM_013381		72956006	72956006	+1	no_errors	ENST00000261180	ensembl	human	known	69_37n	missense	39	36.07	22	SNP	0.997	T
TRIM42	287015	genome.wustl.edu	37	3	140401419	140401419	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:140401419C>T	ENST00000286349.3	+	2	648	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	153						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGCCGGCTGCGCCTGCACTC	0.587																																						dbGAP											0													109.0	102.0	105.0					3																	140401419		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.457C>T	3.37:g.140401419C>T	ENSP00000286349:p.Arg153Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.R153C	ENST00000286349.3	37	c.457	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939317	0.52972	.	.	ENSG00000155890	ENST00000286349	T	0.37915	1.17	5.22	4.29	0.51040	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.506157	0.18373	N	0.143202	T	0.42223	0.1193	L	0.40543	1.245	0.42367	D	0.992438	D	0.89917	1.0	P	0.56278	0.795	T	0.27400	-1.0075	10	0.56958	D	0.05	-15.947	10.2544	0.43388	0.1972:0.8027:0.0:0.0	.	153	Q8IWZ5	TRI42_HUMAN	C	153	ENSP00000286349:R153C	ENSP00000286349:R153C	R	+	1	0	TRIM42	141884109	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	2.120000	0.41968	2.443000	0.82685	0.561000	0.74099	CGC	TRIM42	-	pfscan_Znf_RING	ENSG00000155890		0.587	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	123	0.00	0	C	NM_152616		140401419	140401419	+1	no_errors	ENST00000286349	ensembl	human	known	69_37n	missense	58	46.30	50	SNP	1.000	T
TRIM42	287015	genome.wustl.edu	37	3	140401814	140401814	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:140401814A>G	ENST00000286349.3	+	2	1043	c.852A>G	c.(850-852)gaA>gaG	p.E284E		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	284						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCGCCGAGGAACAGGACGAGA	0.562																																						dbGAP											0													215.0	180.0	192.0					3																	140401814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.852A>G	3.37:g.140401814A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.E284	ENST00000286349.3	37	c.852	CCDS3113.1	3																																																																																			TRIM42	-	NULL	ENSG00000155890		0.562	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	100	0.00	0	A	NM_152616		140401814	140401814	+1	no_errors	ENST00000286349	ensembl	human	known	69_37n	silent	43	41.10	30	SNP	0.966	G
TRIM55	84675	genome.wustl.edu	37	8	67064728	67064728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:67064728G>T	ENST00000315962.4	+	8	1475	c.1102G>T	c.(1102-1104)Gga>Tga	p.G368*	TRIM55_ENST00000276573.7_Nonsense_Mutation_p.G368*|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.G368*|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	368					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGAGTTTCCAGGAGAAGATGA	0.507																																						dbGAP											0													69.0	70.0	70.0					8																	67064728		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1102G>T	8.37:g.67064728G>T	ENSP00000323913:p.Gly368*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Nonsense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.G368*	ENST00000315962.4	37	c.1102	CCDS6184.1	8	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956341	0.92726	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	.	.	.	5.76	1.78	0.24846	.	0.592256	0.18912	N	0.127726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	7.4736	0.27363	0.1463:0.2541:0.5997:0.0	.	.	.	.	X	368	.	ENSP00000276573:G368X	G	+	1	0	TRIM55	67227282	0.999000	0.42202	0.419000	0.26584	0.015000	0.08874	1.744000	0.38268	0.355000	0.24131	-0.143000	0.13931	GGA	TRIM55	-	NULL	ENSG00000147573		0.507	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	300	0.00	0	G	NM_184085		67064728	67064728	+1	no_errors	ENST00000315962	ensembl	human	known	69_37n	nonsense	133	44.81	108	SNP	0.972	T
TRIM74	378108	genome.wustl.edu	37	7	72430734	72430734	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:72430734G>T	ENST00000285805.3	-	4	743	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	TRIM74_ENST00000395244.1_Missense_Mutation_p.L182M	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	182						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			prostate(1)	1						GGGTGGCGCAGCTCCTGGAAC	0.672																																						dbGAP											0													5.0	6.0	6.0					7																	72430734		2048	4115	6163	-	-	-	SO:0001583	missense	0			AF498999	CCDS5545.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000155428	ENSG00000155428		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	17453	protein-coding gene	gene with protein product		612550	"""tripartite motif-containing 50C"", ""tripartite motif-containing 74"""	TRIM50C			Standard	NM_198853		Approved	MGC45440		Q86UV6	OTTHUMG00000129851	ENST00000285805.3:c.544C>A	7.37:g.72430734G>T	ENSP00000285805:p.Leu182Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP46	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L182M	ENST00000285805.3	37	c.544	CCDS5545.1	7	.	.	.	.	.	.	.	.	.	.	G	6.512	0.462710	0.12402	.	.	ENSG00000155428	ENST00000395244;ENST00000285805	T;T	0.73897	-0.79;-0.76	2.35	0.323	0.15893	.	0.000000	0.44902	D	0.000410	T	0.72463	0.3463	L	0.27053	0.805	0.32303	N	0.564705	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.72121	-0.4386	10	0.44086	T	0.13	.	6.8528	0.24024	0.2998:0.0:0.7002:0.0	.	51;182	C9JQH3;Q86UV6-2	.;.	M	182	ENSP00000378665:L182M;ENSP00000285805:L182M	ENSP00000285805:L182M	L	-	1	2	TRIM74	72068670	1.000000	0.71417	0.999000	0.59377	0.112000	0.19704	0.909000	0.28558	0.284000	0.22305	0.184000	0.17185	CTG	TRIM74	-	NULL	ENSG00000155428		0.672	TRIM74-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM74	HGNC	protein_coding	OTTHUMT00000252093.1	30	0.00	0	G	NM_198853		72430734	72430734	-1	no_errors	ENST00000285805	ensembl	human	known	69_37n	missense	16	57.89	22	SNP	1.000	T
TRIM56	81844	genome.wustl.edu	37	7	100732399	100732399	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:100732399C>T	ENST00000306085.6	+	3	2103	c.1806C>T	c.(1804-1806)cgC>cgT	p.R602R		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	602					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCGGGGACCGCGTGGCTGTCA	0.692																																					Ovarian(89;1092 1379 22756 38989 39611)	dbGAP											0													36.0	42.0	40.0					7																	100732399		2002	4118	6120	-	-	-	SO:0001819	synonymous_variant	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1806C>T	7.37:g.100732399C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R602	ENST00000306085.6	37	c.1806	CCDS43625.1	7																																																																																			TRIM56	-	NULL	ENSG00000169871		0.692	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	25	0.00	0	C	NM_030961		100732399	100732399	+1	no_errors	ENST00000306085	ensembl	human	known	69_37n	silent	30	41.82	23	SNP	0.139	T
TRIML2	205860	genome.wustl.edu	37	4	189012771	189012771	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:189012771delG	ENST00000512729.1	-	7	1294	c.920delC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Del_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCTTTTCAGAGGGGGGAAGAC	0.557																																						dbGAP											0													129.0	146.0	140.0					4																	189012771		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.920delC	4.37:g.189012771delG	ENSP00000422581:p.Pro307fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6J6	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	p.P307fs	ENST00000512729.1	37	c.920	CCDS3850.1	4																																																																																			TRIML2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000179046		0.557	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	299	0.00	0	G	NM_173553		189012771	189012771	-1	no_errors	ENST00000512729	ensembl	human	known	69_37n	frame_shift_del	230	39.43	151	DEL	0.017	-
TRIO	7204	genome.wustl.edu	37	5	14358332	14358332	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:14358332G>A	ENST00000344204.4	+	12	2116	c.2092G>A	c.(2092-2094)Gtg>Atg	p.V698M	TRIO_ENST00000537187.1_Missense_Mutation_p.V698M|TRIO_ENST00000509967.2_Missense_Mutation_p.V649M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	698					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V698M(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGACGACGTGTATGCCGA	0.657																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											78.0	63.0	68.0					5																	14358332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2092G>A	5.37:g.14358332G>A	ENSP00000339299:p.Val698Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.V698M	ENST00000344204.4	37	c.2092	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823922	0.71143	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.42900	0.96;0.96;0.96	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.989;1.0;0.988	T	0.59225	-0.7494	10	0.52906	T	0.07	.	17.7922	0.88555	0.0:0.0:1.0:0.0	.	649;698;698	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	M	698;698;649;385	ENSP00000339299:V698M;ENSP00000446348:V698M;ENSP00000445592:V649M	ENSP00000339299:V698M	V	+	1	0	TRIO	14411332	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.782000	0.99034	2.273000	0.75805	0.484000	0.47621	GTG	TRIO	-	smart_Spectrin/alpha-actinin	ENSG00000038382		0.657	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	50	0.00	0	G	NM_007118		14358332	14358332	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	missense	34	41.38	24	SNP	1.000	A
TRMT2A	27037	genome.wustl.edu	37	22	20100129	20100129	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:20100129delG	ENST00000252136.7	-	12	2223	c.1835delC	c.(1834-1836)ccafs	p.P612fs	TRMT2A_ENST00000404751.3_3'UTR|TRMT2A_ENST00000439169.2_Frame_Shift_Del_p.P630fs|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000403707.3_Frame_Shift_Del_p.P612fs|AC006547.8_ENST00000412713.1_RNA	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	612					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						GGTGTTATCTGGGGGTCCTGG	0.627																																						dbGAP											0													55.0	56.0	56.0					22																	20100129		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1835delC	22.37:g.20100129delG	ENSP00000252136:p.Pro612fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX25|Q32P57|Q96ME6|Q9H732	Frame_Shift_Del	DEL	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.P612fs	ENST00000252136.7	37	c.1835	CCDS13774.1	22																																																																																			TRMT2A	-	NULL	ENSG00000099899		0.627	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3	30	0.00	0	G	NM_022727		20100129	20100129	-1	no_errors	ENST00000252136	ensembl	human	known	69_37n	frame_shift_del	7	27.27	3	DEL	0.000	-
TRPC3	7222	genome.wustl.edu	37	4	122853728	122853728	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:122853728G>A	ENST00000379645.3	-	2	758	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	TRPC3_ENST00000513531.1_Missense_Mutation_p.R156C|TRPC3_ENST00000264811.5_Missense_Mutation_p.R156C	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	144					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R156C(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGCGAGAAGCGCGTGCCGTCC	0.632																																						dbGAP											1	Substitution - Missense(1)	breast(1)											84.0	78.0	80.0					4																	122853728		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.685C>T	4.37:g.122853728G>A	ENSP00000368966:p.Arg229Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R229C	ENST00000379645.3	37	c.685	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.155076	0.94686	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.76448	-0.81;-1.02;-0.94	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.943;1.0	D	0.86139	0.1580	10	0.87932	D	0	-15.4956	19.7417	0.96234	0.0:0.0:1.0:0.0	.	156;229	E9PCJ9;Q5G1L5	.;.	C	156;229;156	ENSP00000264811:R156C;ENSP00000368966:R229C;ENSP00000426899:R156C	ENSP00000264811:R156C	R	-	1	0	TRPC3	123073178	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.816000	0.86201	2.661000	0.90470	0.655000	0.94253	CGC	TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000138741		0.632	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	50	0.00	0	G	NM_003305		122853728	122853728	-1	no_errors	ENST00000379645	ensembl	human	known	69_37n	missense	36	47.06	32	SNP	1.000	A
TRPS1	7227	genome.wustl.edu	37	8	116616633	116616635	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:116616633_116616635delCTT	ENST00000220888.5	-	3	1681_1683	c.1522_1524delAAG	c.(1522-1524)aagdel	p.K508del	TRPS1_ENST00000395715.3_In_Frame_Del_p.K521del|TRPS1_ENST00000520276.1_In_Frame_Del_p.K512del|TRPS1_ENST00000519674.1_In_Frame_Del_p.K508del|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	508					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K508K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGAGAAGTCCTTCTTTTTAGCC	0.453									Langer-Giedion syndrome																													dbGAP											1	Substitution - coding silent(1)	skin(1)																																								-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1522_1524delAAG	8.37:g.116616636_116616638delCTT	ENSP00000220888:p.Lys508del	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	In_Frame_Del	DEL	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.K521in_frame_del	ENST00000220888.5	37	c.1563_1561		8																																																																																			TRPS1	-	NULL	ENSG00000104447		0.453	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	199	0.00	0	CTT	NM_014112		116616633	116616635	-1	no_errors	ENST00000395715	ensembl	human	known	69_37n	in_frame_del	101	36.84	63	DEL	1.000:1.000:1.000	-
TSHR	7253	genome.wustl.edu	37	14	81610362	81610362	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:81610362A>G	ENST00000541158.2	+	11	2282	c.1960A>G	c.(1960-1962)Atc>Gtc	p.I654V	TSHR_ENST00000298171.2_Missense_Mutation_p.I654V|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	654					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAGCCTCTCATCACTGTTAG	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															dbGAP	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													168.0	165.0	166.0					14																	81610362		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1960A>G	14.37:g.81610362A>G	ENSP00000441235:p.Ile654Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.I654V	ENST00000541158.2	37	c.1960	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	A	17.12	3.309305	0.60414	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.95103	-3.61;-3.61	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	M	0.85462	2.755	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.98059	1.0392	10	0.87932	D	0	.	14.8175	0.70045	1.0:0.0:0.0:0.0	.	654	F5GYU5	.	V	654;301;654	ENSP00000441235:I654V;ENSP00000298171:I654V	ENSP00000298171:I654V	I	+	1	0	TSHR	80680115	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	9.339000	0.96797	1.906000	0.55180	0.459000	0.35465	ATC	TSHR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt	ENSG00000165409		0.448	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	518	0.19	1	A	NM_000369		81610362	81610362	+1	no_errors	ENST00000298171	ensembl	human	known	69_37n	missense	284	37.34	171	SNP	1.000	G
TSHZ3	57616	genome.wustl.edu	37	19	31769142	31769142	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:31769142delC	ENST00000240587.4	-	2	1884	c.1557delG	c.(1555-1557)gggfs	p.G519fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	519					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGATATCAAGCCCCCCCTTGG	0.498																																						dbGAP											0													137.0	141.0	140.0					19																	31769142		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1557delG	19.37:g.31769142delC	ENSP00000240587:p.Gly519fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H0G6|Q9P254	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.D521fs	ENST00000240587.4	37	c.1557	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.498	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	295	0.00	0	C	NM_020856		31769142	31769142	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	frame_shift_del	218	29.56	94	DEL	0.000	-
TSPAN19	144448	genome.wustl.edu	37	12	85413517	85413517	+	Splice_Site	SNP	T	T	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:85413517T>G	ENST00000532498.2	-	6	420		c.e6-2		TSPAN19_ENST00000547403.2_Splice_Site	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19							integral component of membrane (GO:0016021)				ovary(1)	1						TTGCTGAACCTGTAGAAAATT	0.308																																						dbGAP											0													57.0	57.0	57.0					12																	85413517		1796	4055	5851	-	-	-	SO:0001630	splice_region_variant	0				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.340-2A>C	12.37:g.85413517T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e5-2	ENST00000532498.2	37	c.340-2	CCDS44949.1	12	.	.	.	.	.	.	.	.	.	.	T	12.45	1.940664	0.34283	.	.	ENSG00000231738	ENST00000532498	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5782	0.39470	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSPAN19	83937648	1.000000	0.71417	0.999000	0.59377	0.581000	0.36288	3.371000	0.52379	1.688000	0.51068	0.456000	0.33151	.	TSPAN19	-	-	ENSG00000231738		0.308	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN19	HGNC	protein_coding	OTTHUMT00000388240.2	108	0.00	0	T	NM_001100917	Intron	85413517	85413517	-1	no_errors	ENST00000532498	ensembl	human	known	69_37n	splice_site	54	43.75	42	SNP	1.000	G
TSPYL4	23270	genome.wustl.edu	37	6	116574620	116574621	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:116574620_116574621insT	ENST00000420283.1	-	1	640_641	c.551_552insA	c.(550-552)aagfs	p.K184fs	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	184					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		ctcctgccacctttttttcctt	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.552dupA	6.37:g.116574627_116574627dupT	ENSP00000410943:p.Lys184fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYQ2|O94828|Q96GW8	Frame_Shift_Ins	INS	pfam_NAP_family	p.V185fs	ENST00000420283.1	37	c.552_551	CCDS5106.1	6																																																																																			TSPYL4	-	NULL	ENSG00000187189		0.535	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	18	0.00	0	-			116574620	116574621	-1	no_errors	ENST00000420283	ensembl	human	known	69_37n	frame_shift_ins	9	52.63	10	INS	0.180:0.135	T
TSPYL1	7259	genome.wustl.edu	37	6	116599774	116599774	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:116599774T>C	ENST00000368608.3	-	1	1292	c.1220A>G	c.(1219-1221)tAc>tGc	p.Y407C	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	407					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CAACAGGTAGTATTGCAGTGG	0.507																																						dbGAP											0													64.0	68.0	67.0					6																	116599774		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.1220A>G	6.37:g.116599774T>C	ENSP00000357597:p.Tyr407Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75885|Q5TFE6	Missense_Mutation	SNP	pfam_NAP_family	p.Y407C	ENST00000368608.3	37	c.1220	CCDS34518.1	6	.	.	.	.	.	.	.	.	.	.	T	18.51	3.640369	0.67244	.	.	ENSG00000189241	ENST00000368608	T	0.51574	0.7	4.32	4.32	0.51571	.	0.000000	0.33591	N	0.004741	T	0.67524	0.2902	M	0.92412	3.305	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.74931	-0.3496	10	0.87932	D	0	-14.7147	10.1619	0.42858	0.0:0.0:0.0:1.0	.	407	Q9H0U9	TSYL1_HUMAN	C	407	ENSP00000357597:Y407C	ENSP00000357597:Y407C	Y	-	2	0	TSPYL1	116706467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.327000	0.52045	2.175000	0.68902	0.459000	0.35465	TAC	TSPYL1	-	pfam_NAP_family	ENSG00000189241		0.507	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL1	HGNC	protein_coding	OTTHUMT00000041929.1	132	0.00	0	T			116599774	116599774	-1	no_errors	ENST00000368608	ensembl	human	known	69_37n	missense	77	42.54	57	SNP	1.000	C
TSPYL6	388951	genome.wustl.edu	37	2	54482933	54482933	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:54482933T>C	ENST00000317802.7	-	1	476	c.356A>G	c.(355-357)gAg>gGg	p.E119G	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	119					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCCGTGCGTCTCTTCACCCGG	0.627																																						dbGAP											0													49.0	53.0	52.0					2																	54482933		2083	4215	6298	-	-	-	SO:0001583	missense	0			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.356A>G	2.37:g.54482933T>C	ENSP00000417919:p.Glu119Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUJ3	Missense_Mutation	SNP	pfam_NAP_family	p.E119G	ENST00000317802.7	37	c.356	CCDS42682.1	2	.	.	.	.	.	.	.	.	.	.	T	7.301	0.612958	0.14066	.	.	ENSG00000178021	ENST00000317802	T	0.21932	1.98	0.914	0.914	0.19360	.	.	.	.	.	T	0.13286	0.0322	L	0.55213	1.73	0.09310	N	1	P	0.45531	0.86	B	0.31390	0.129	T	0.20306	-1.0279	9	0.37606	T	0.19	.	4.0572	0.09823	0.0:0.0:0.0:1.0	.	119	Q8N831	TSYL6_HUMAN	G	119	ENSP00000417919:E119G	ENSP00000417919:E119G	E	-	2	0	TSPYL6	54336437	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.543000	0.23237	0.675000	0.31264	0.260000	0.18958	GAG	TSPYL6	-	NULL	ENSG00000178021		0.627	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL6	HGNC	protein_coding	OTTHUMT00000324069.3	65	0.00	0	T	XM_371494		54482933	54482933	-1	no_errors	ENST00000317802	ensembl	human	known	69_37n	missense	60	44.95	49	SNP	0.001	C
TSR1	55720	genome.wustl.edu	37	17	2234380	2234380	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:2234380T>C	ENST00000301364.5	-	9	2599	c.1520A>G	c.(1519-1521)aAg>aGg	p.K507R	SNORD91B_ENST00000391250.1_RNA|SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	507					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCGGAAGCTCTTAAGGCCTCT	0.353																																						dbGAP											0													76.0	75.0	76.0					17																	2234380		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1520A>G	17.37:g.2234380T>C	ENSP00000301364:p.Lys507Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN	p.K507R	ENST00000301364.5	37	c.1520	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424326	0.83667	.	.	ENSG00000167721	ENST00000301364	T	0.20738	2.05	5.24	5.24	0.73138	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.045842	0.85682	N	0.000000	T	0.43500	0.1250	M	0.79805	2.47	0.80722	D	1	D	0.54207	0.965	P	0.57371	0.819	T	0.42515	-0.9447	10	0.48119	T	0.1	-16.3544	14.3135	0.66432	0.0:0.0:0.0:1.0	.	507	Q2NL82	TSR1_HUMAN	R	507	ENSP00000301364:K507R	ENSP00000301364:K507R	K	-	2	0	TSR1	2181130	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.119000	0.71590	1.982000	0.57802	0.459000	0.35465	AAG	TSR1	-	pfam_BMS1_TSR1_C	ENSG00000167721		0.353	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	160	0.00	0	T	NM_018128		2234380	2234380	-1	no_errors	ENST00000301364	ensembl	human	known	69_37n	missense	145	34.09	75	SNP	1.000	C
TTC21A	199223	genome.wustl.edu	37	3	39178863	39178863	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:39178863G>T	ENST00000431162.2	+	25	3590	c.3456G>T	c.(3454-3456)caG>caT	p.Q1152H	TTC21A_ENST00000301819.6_Missense_Mutation_p.Q1153H|TTC21A_ENST00000440121.1_Missense_Mutation_p.Q1104H|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1152										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCTTCATCCAGATAGCGCAGG	0.672																																						dbGAP											0													24.0	32.0	30.0					3																	39178863		2154	4240	6394	-	-	-	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3456G>T	3.37:g.39178863G>T	ENSP00000398211:p.Gln1152His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q1153H	ENST00000431162.2	37	c.3459	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652362	0.29336	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.77620	-1.11;-1.11;-1.11	4.44	3.54	0.40534	Tetratricopeptide-like helical (1);	1.087340	0.07143	N	0.847696	T	0.69151	0.3079	L	0.38175	1.15	0.26420	N	0.976113	P;P;P	0.41569	0.697;0.755;0.641	B;B;B	0.40534	0.332;0.264;0.135	T	0.59994	-0.7349	10	0.62326	D	0.03	-2.6863	4.6204	0.12447	0.1905:0.1931:0.6164:0.0	.	1104;1153;1152	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	H	1153;1135;1152;1104	ENSP00000301819:Q1153H;ENSP00000398211:Q1152H;ENSP00000410882:Q1104H	ENSP00000301819:Q1153H	Q	+	3	2	TTC21A	39153867	1.000000	0.71417	0.717000	0.30585	0.219000	0.24729	2.427000	0.44740	0.801000	0.34066	0.205000	0.17691	CAG	TTC21A	-	NULL	ENSG00000168026		0.672	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	23	0.00	0	G	NM_145755		39178863	39178863	+1	no_errors	ENST00000301819	ensembl	human	known	69_37n	missense	2	86.67	13	SNP	1.000	T
TTC27	55622	genome.wustl.edu	37	2	33036158	33036158	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:33036158G>A	ENST00000317907.4	+	17	2297	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	689										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTTGCAACTGGCCTCAAAGGA	0.438																																						dbGAP											0													127.0	120.0	122.0					2																	33036158		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2066G>A	2.37:g.33036158G>A	ENSP00000313953:p.Gly689Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G689D	ENST00000317907.4	37	c.2066	CCDS33176.1	2	.	.	.	.	.	.	.	.	.	.	G	1.619	-0.522058	0.04171	.	.	ENSG00000018699	ENST00000317907	T	0.60672	0.17	5.22	2.47	0.30058	.	1.159240	0.05873	N	0.624967	T	0.46521	0.1397	L	0.29908	0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.32188	-0.9916	10	0.34782	T	0.22	0.2893	8.8281	0.35067	0.2877:0.0:0.7122:0.0	.	689	Q6P3X3	TTC27_HUMAN	D	689	ENSP00000313953:G689D	ENSP00000313953:G689D	G	+	2	0	TTC27	32889662	0.053000	0.20554	0.370000	0.25965	0.385000	0.30292	0.867000	0.27968	0.357000	0.24183	0.650000	0.86243	GGC	TTC27	-	NULL	ENSG00000018699		0.438	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC27	HGNC	protein_coding	OTTHUMT00000325395.1	213	0.00	0	G	NM_017735		33036158	33036158	+1	no_errors	ENST00000317907	ensembl	human	known	69_37n	missense	137	37.44	82	SNP	0.161	A
TTC7A	57217	genome.wustl.edu	37	2	47278908	47278908	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:47278908G>A	ENST00000319190.5	+	18	2409	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	TTC7A_ENST00000394850.2_Missense_Mutation_p.A705T|TTC7A_ENST00000263737.6_Missense_Mutation_p.A327T|TTC7A_ENST00000409245.1_Missense_Mutation_p.A647T	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	681					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTCGTCCATCGCCGCCTCCCG	0.652																																						dbGAP											0													46.0	48.0	47.0					2																	47278908		2197	4289	6486	-	-	-	SO:0001583	missense	0			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2041G>A	2.37:g.47278908G>A	ENSP00000316699:p.Ala681Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A681T	ENST00000319190.5	37	c.2041	CCDS33193.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.428875	0.96131	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.37411	1.61;1.62;1.2;1.25	5.18	5.18	0.71444	.	0.050696	0.85682	D	0.000000	T	0.60222	0.2252	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;P	0.80764	0.943;0.994;0.989;0.889	T	0.59606	-0.7423	10	0.48119	T	0.1	-8.2717	17.6376	0.88127	0.0:0.0:1.0:0.0	.	705;647;681;647	Q2T9J9;B3KPK7;Q9ULT0;G5E9G4	.;.;TTC7A_HUMAN;.	T	647;681;705;327;508	ENSP00000386307:A647T;ENSP00000316699:A681T;ENSP00000378320:A705T;ENSP00000263737:A327T	ENSP00000263737:A327T	A	+	1	0	TTC7A	47132412	1.000000	0.71417	0.950000	0.38849	0.794000	0.44872	9.126000	0.94411	2.689000	0.91719	0.655000	0.94253	GCC	TTC7A	-	NULL	ENSG00000068724		0.652	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7A	HGNC	protein_coding	OTTHUMT00000329667.2	45	0.00	0	G	XM_372927		47278908	47278908	+1	no_errors	ENST00000319190	ensembl	human	known	69_37n	missense	32	42.11	24	SNP	1.000	A
TTL	150465	genome.wustl.edu	37	2	113286608	113286608	+	3'UTR	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:113286608T>C	ENST00000233336.6	+	0	1561				TTL_ENST00000460450.1_3'UTR	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase						cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ACAACTTTGGTACACAAAGGC	0.592			T	ETV6	ALL																																	dbGAP		Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.*236T>C	2.37:g.113286608T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q585T3|Q7Z302|Q8N426	RNA	SNP	-	NULL	ENST00000233336.6	37	NULL	CCDS2096.1	2																																																																																			TTL	-	-	ENSG00000114999		0.592	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2	14	0.00	0	T	NM_153712		113286608	113286608	+1	no_errors	ENST00000460450	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	0.001	C
TTN	7273	genome.wustl.edu	37	2	179639230	179639230	+	Intron	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:179639230delT	ENST00000591111.1	-	30	7015				TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Intron|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATAAATCAATTTTTTTGGAG	0.363																																						dbGAP											0													21.0	22.0	22.0					2																	179639230		2198	4296	6494	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6791-30A>-	2.37:g.179639230delT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	DEL	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			TTN-AS1	-	-	ENSG00000237298		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	HGNC	protein_coding	OTTHUMT00000460310.1	105	0.00	0	T	NM_133378		179639230	179639230	+1	no_errors	ENST00000584485	ensembl	human	known	69_37n	rna	56	42.86	42	DEL	0.013	-
TUBA3E	112714	genome.wustl.edu	37	2	130949467	130949469	+	In_Frame_Del	DEL	CTT	CTT	-	rs576105082		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:130949467_130949469delCTT	ENST00000312988.7	-	5	1388_1390	c.1288_1290delAAG	c.(1288-1290)aagdel	p.K430del		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	430					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CTTCACAATCCTTCTCTAGAGCT	0.591																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1288_1290delAAG	2.37:g.130949467_130949469delCTT	ENSP00000318197:p.Lys430del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.K430in_frame_del	ENST00000312988.7	37	c.1290_1288	CCDS2158.1	2																																																																																			TUBA3E	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin	ENSG00000152086		0.591	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	118	0.00	0	CTT	NM_207312		130949467	130949469	-1	no_errors	ENST00000312988	ensembl	human	known	69_37n	in_frame_del	65	48.12	64	DEL	1.000:1.000:1.000	-
TUBA3D	113457	genome.wustl.edu	37	2	132238049	132238049	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:132238049G>A	ENST00000321253.6	+	4	890	c.783G>A	c.(781-783)ccG>ccA	p.P261P		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	261					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.P261P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTGCCGTACCCCCGCA	0.587																																					Ovarian(137;2059 2432 35543 39401)	dbGAP											1	Substitution - coding silent(1)	lung(1)											75.0	111.0	99.0					2																	132238049		2045	4289	6334	-	-	-	SO:0001819	synonymous_variant	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.783G>A	2.37:g.132238049G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.P261	ENST00000321253.6	37	c.783	CCDS33290.1	2																																																																																			TUBA3D	-	superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom	ENSG00000075886		0.587	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	145	0.00	0	G	NM_080386		132238049	132238049	+1	no_errors	ENST00000321253	ensembl	human	known	69_37n	silent	103	31.79	48	SNP	0.964	A
AC002472.1	0	genome.wustl.edu	37	22	21363334	21363334	+	5'Flank	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:21363334delG	ENST00000547793.2	-	0	0				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000452284.1_RNA																							AGGTGGATGTGGGGGTATGGC	0.592																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0																															22.37:g.21363334delG	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000547793.2	37	NULL		22																																																																																			TUBA3FP	-	-	ENSG00000161149		0.592	AC002472.1-201	NOVEL	basic|appris_principal	protein_coding	TUBA3FP	HGNC	protein_coding		91	0.00	0	G			21363334	21363334	-1	no_errors	ENST00000292748	ensembl	human	known	69_37n	rna	73	23.16	22	DEL	1.000	-
TUBB2B	347733	genome.wustl.edu	37	6	3225694	3225694	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:3225694A>C	ENST00000259818.7	-	4	820	c.629T>G	c.(628-630)aTc>aGc	p.I210S	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	210			I -> T (in PMGYSA). {ECO:0000269|PubMed:19465910}.		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCGGAAGCAGATGTCATACAG	0.617																																						dbGAP											0													42.0	28.0	33.0					6																	3225694		1542	3238	4780	-	-	-	SO:0001583	missense	0			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.629T>G	6.37:g.3225694A>C	ENSP00000259818:p.Ile210Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K068	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.I210S	ENST00000259818.7	37	c.629	CCDS4485.1	6	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622020	0.46840	.	.	ENSG00000137285	ENST00000259818	T	0.72505	-0.66	5.17	5.17	0.71159	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000003	D	0.90038	0.6889	H	0.99498	4.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.97110	1.0;1.0;0.999	D	0.94311	0.7545	10	0.87932	D	0	.	15.0696	0.72024	1.0:0.0:0.0:0.0	.	210;210;210	Q8IZ29;Q8IWP6;Q9BVA1	.;.;TBB2B_HUMAN	S	210	ENSP00000259818:I210S	ENSP00000259818:I210S	I	-	2	0	TUBB2B	3170693	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.053000	0.93860	1.956000	0.56807	0.416000	0.27883	ATC	TUBB2B	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin	ENSG00000137285		0.617	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2B	HGNC	protein_coding	OTTHUMT00000039680.2	27	0.00	0	A	NM_178012		3225694	3225694	-1	no_errors	ENST00000259818	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	C
TUBGCP4	27229	genome.wustl.edu	37	15	43668402	43668402	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:43668402A>G	ENST00000260383.7	+	2	439	c.185A>G	c.(184-186)tAc>tGc	p.Y62C	TUBGCP4_ENST00000399460.3_5'Flank|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.Y62C|TUBGCP4_ENST00000570081.1_3'UTR			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	62					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATTGAACAGTACACGGGCCAT	0.552											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													99.0	98.0	99.0					15																	43668402		1974	4167	6141	-	-	-	SO:0001583	missense	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.185A>G	15.37:g.43668402A>G	ENSP00000260383:p.Tyr62Cys	Somatic	918	WXS	Illumina GAIIx	Phase_IV	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.Y62C	ENST00000260383.7	37	c.185		15	.	.	.	.	.	.	.	.	.	.	A	15.88	2.963706	0.53507	.	.	ENSG00000137822	ENST00000260383	T	0.08282	3.11	5.64	5.64	0.86602	.	0.151145	0.64402	D	0.000011	T	0.08802	0.0218	L	0.29908	0.895	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.18561	0.022;0.013	T	0.12372	-1.0550	10	0.52906	T	0.07	-16.4952	15.3291	0.74193	1.0:0.0:0.0:0.0	.	62;62	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	C	62	ENSP00000260383:Y62C	ENSP00000260383:Y62C	Y	+	2	0	TUBGCP4	41455694	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.105000	0.89553	2.265000	0.75225	0.482000	0.46254	TAC	TUBGCP4	-	pfam_Spc97_Spc98	ENSG00000137822		0.552	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	118	0.84	1	A	NM_014444		43668402	43668402	+1	no_errors	ENST00000260383	ensembl	human	known	69_37n	missense	75	38.52	47	SNP	1.000	G
TUBGCP6	85378	genome.wustl.edu	37	22	50659403	50659403	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:50659403G>A	ENST00000248846.5	-	16	3489	c.3385C>T	c.(3385-3387)Cca>Tca	p.P1129S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.P1129S			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1129	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCCACCGTGGCCTGGTGGGA	0.632																																						dbGAP											0													153.0	150.0	151.0					22																	50659403		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3385C>T	22.37:g.50659403G>A	ENSP00000248846:p.Pro1129Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.P1129S	ENST00000248846.5	37	c.3385	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848531	0.71603	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.20463	2.47;2.07	5.17	5.17	0.71159	.	0.000000	0.56097	U	0.000021	T	0.45276	0.1334	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.83275	0.919;0.996;0.996	T	0.33292	-0.9874	10	0.59425	D	0.04	.	18.6169	0.91305	0.0:0.0:1.0:0.0	.	1121;1129;1129	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	S	1129	ENSP00000248846:P1129S;ENSP00000397387:P1129S	ENSP00000248846:P1129S	P	-	1	0	TUBGCP6	49001530	0.928000	0.31464	0.963000	0.40424	0.007000	0.05969	1.340000	0.33896	2.569000	0.86673	0.650000	0.86243	CCA	TUBGCP6	-	pfam_Spc97_Spc98	ENSG00000128159		0.632	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	133	0.00	0	G	NM_020461		50659403	50659403	-1	no_errors	ENST00000248846	ensembl	human	known	69_37n	missense	83	40.29	56	SNP	0.989	A
TWIST1	7291	genome.wustl.edu	37	7	19156394	19156394	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:19156394C>A	ENST00000242261.5	-	1	901	c.551G>T	c.(550-552)aGc>aTc	p.S184I	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	184	Sufficient for transactivation activity. {ECO:0000250}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)			lung(2)|upper_aerodigestive_tract(1)	3						GAAGGCGTAGCTGAGCCGCTC	0.657																																						dbGAP											0													54.0	47.0	49.0					7																	19156394		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"""Basic helix-loop-helix proteins"""	12428	protein-coding gene	gene with protein product	"""Saethre-Chotzen syndrome"""	601622	"""blepharophimosis, epicanthus inversus and ptosis 3"", ""acrocephalosyndactyly 3"", ""twist homolog 1 (Drosophila)"", ""twist basic helix-loop-helix transcription factor 1"", ""craniosynostosis"""	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.551G>T	7.37:g.19156394C>A	ENSP00000242261:p.Ser184Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D128|Q92487|Q99804	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S184I	ENST00000242261.5	37	c.551	CCDS5367.1	7	.	.	.	.	.	.	.	.	.	.	c	20.7	4.027748	0.75390	.	.	ENSG00000122691	ENST00000242261	D	0.97328	-4.34	4.73	4.73	0.59995	Helix-loop-helix DNA-binding (1);	0.000000	0.64402	D	0.000018	D	0.98353	0.9453	M	0.85630	2.765	0.80722	D	1	D	0.67145	0.996	D	0.64042	0.921	D	0.99640	1.0988	10	0.87932	D	0	-15.5677	17.3798	0.87401	0.0:1.0:0.0:0.0	.	184	Q15672	TWST1_HUMAN	I	184	ENSP00000242261:S184I	ENSP00000242261:S184I	S	-	2	0	TWIST1	19122919	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.687000	0.84139	2.190000	0.69967	0.449000	0.29647	AGC	TWIST1	-	superfamily_HLH_DNA-bd	ENSG00000122691		0.657	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWIST1	HGNC	protein_coding	OTTHUMT00000207625.1	10	0.00	0	C	NM_000474		19156394	19156394	-1	no_errors	ENST00000242261	ensembl	human	known	69_37n	missense	5	61.54	8	SNP	1.000	A
TXN	7295	genome.wustl.edu	37	9	113007189	113007189	+	Intron	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:113007189A>G	ENST00000374517.5	-	4	394				TXN_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Intron	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin						cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		CTTTGACAGAAGTAATCCAAA	0.393																																						dbGAP											0													84.0	66.0	71.0					9																	113007189		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.190-66T>C	9.37:g.113007189A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	RNA	SNP	-	NULL	ENST00000374517.5	37	NULL	CCDS35103.1	9																																																																																			TXN	-	-	ENSG00000136810		0.393	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXN	HGNC	protein_coding	OTTHUMT00000053614.1	58	0.00	0	A			113007189	113007189	-1	no_errors	ENST00000487892	ensembl	human	known	69_37n	rna	29	30.95	13	SNP	0.000	G
TXNDC11	51061	genome.wustl.edu	37	16	11773451	11773451	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:11773451G>A	ENST00000356957.3	-	13	2665	c.2558C>T	c.(2557-2559)tCc>tTc	p.S853F	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.S826F			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	853					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGAGAGCTGGGACTCCACCTG	0.617																																						dbGAP											0													56.0	52.0	54.0					16																	11773451		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2558C>T	16.37:g.11773451G>A	ENSP00000349439:p.Ser853Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.S853F	ENST00000356957.3	37	c.2558		16	.	.	.	.	.	.	.	.	.	.	G	6.370	0.436417	0.12104	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.15718	2.63;2.4	5.63	-0.331	0.12679	.	1.482540	0.03513	N	0.219868	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B;P	0.37636	0.421;0.603	B;B	0.34242	0.097;0.178	T	0.18555	-1.0333	10	0.56958	D	0.05	-0.6495	3.4715	0.07569	0.176:0.4442:0.2659:0.1139	.	853;826	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	F	853;826	ENSP00000349439:S853F;ENSP00000283033:S826F	ENSP00000283033:S826F	S	-	2	0	TXNDC11	11680952	0.149000	0.22717	0.015000	0.15790	0.105000	0.19272	1.210000	0.32370	-0.273000	0.09246	-0.345000	0.07892	TCC	TXNDC11	-	NULL	ENSG00000153066		0.617	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	92	0.00	0	G	NM_015914		11773451	11773451	-1	no_errors	ENST00000356957	ensembl	human	known	69_37n	missense	52	29.73	22	SNP	0.002	A
UACA	55075	genome.wustl.edu	37	15	70961075	70961075	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:70961075A>T	ENST00000322954.6	-	16	2133	c.1948T>A	c.(1948-1950)Tta>Ata	p.L650I	UACA_ENST00000539319.1_Missense_Mutation_p.L541I|UACA_ENST00000560441.1_Missense_Mutation_p.L635I|UACA_ENST00000379983.2_Missense_Mutation_p.L637I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	650					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTTCTACTAATTTTTTTGCT	0.348																																						dbGAP											0													83.0	81.0	81.0					15																	70961075		2199	4297	6496	-	-	-	SO:0001583	missense	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1948T>A	15.37:g.70961075A>T	ENSP00000314556:p.Leu650Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.L650I	ENST00000322954.6	37	c.1948	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	A	11.48	1.651580	0.29336	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.36699	1.24;1.26;1.71	5.61	-4.68	0.03309	.	0.815182	0.10590	N	0.656893	T	0.22513	0.0543	L	0.34521	1.04	0.09310	N	0.999999	B;B;B;B	0.19935	0.04;0.024;0.024;0.008	B;B;B;B	0.27715	0.082;0.014;0.017;0.008	T	0.26815	-1.0092	10	0.37606	T	0.19	-0.576	5.2262	0.15396	0.2689:0.0:0.3804:0.3506	.	541;650;650;637	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	I	650;637;541	ENSP00000314556:L650I;ENSP00000369319:L637I;ENSP00000438667:L541I	ENSP00000314556:L650I	L	-	1	2	UACA	68748129	0.136000	0.22515	0.000000	0.03702	0.990000	0.78478	-0.016000	0.12613	-1.222000	0.02587	0.402000	0.26972	TTA	UACA	-	NULL	ENSG00000137831		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	400	0.25	1	A			70961075	70961075	-1	no_errors	ENST00000322954	ensembl	human	known	69_37n	missense	199	39.88	132	SNP	0.001	T
UBE4B	10277	genome.wustl.edu	37	1	10163069	10163069	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:10163069C>A	ENST00000253251.8	+	5	1338	c.499C>A	c.(499-501)Cgt>Agt	p.R167S	UBE4B_ENST00000377157.3_Missense_Mutation_p.R51S|UBE4B_ENST00000343090.6_Missense_Mutation_p.R167S					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TAAGATCTTCCGTGTCTCTTG	0.463																																						dbGAP											0													108.0	101.0	103.0					1																	10163069		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.499C>A	1.37:g.10163069C>A	ENSP00000253251:p.Arg167Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.R167S	ENST00000253251.8	37	c.499	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729534	0.48833	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.49720	0.86;0.91;0.77	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.42245	1.32	0.39870	D	0.973493	D;D	0.63880	0.993;0.992	D;D	0.74023	0.982;0.979	T	0.51787	-0.8661	10	0.23302	T	0.38	-15.5371	14.2827	0.66224	0.2465:0.7535:0.0:0.0	.	167;167	O95155;O95155-2	UBE4B_HUMAN;.	S	167;51;167	ENSP00000253251:R167S;ENSP00000366362:R51S;ENSP00000343001:R167S	ENSP00000253251:R167S	R	+	1	0	UBE4B	10085656	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.707000	0.54838	2.835000	0.97688	0.650000	0.86243	CGT	UBE4B	-	NULL	ENSG00000130939		0.463	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	247	0.00	0	C	NM_006048		10163069	10163069	+1	no_errors	ENST00000343090	ensembl	human	known	69_37n	missense	141	41.00	98	SNP	1.000	A
UBAP2L	9898	genome.wustl.edu	37	1	154229865	154229865	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:154229865G>A	ENST00000361546.2	+	19	2439	c.2397G>A	c.(2395-2397)ttG>ttA	p.L799L	UBAP2L_ENST00000428931.1_Silent_p.L799L|UBAP2L_ENST00000271877.7_Silent_p.L810L|UBAP2L_ENST00000343815.6_Silent_p.L799L|SNORA58_ENST00000364259.1_RNA|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	799					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGCCGTTGTTGCCTAATCCGT	0.468																																						dbGAP											0													75.0	78.0	77.0					1																	154229865		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2397G>A	1.37:g.154229865G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	NULL	p.A130T	ENST00000361546.2	37	c.388	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096152	0.20552	.	.	ENSG00000143569	ENST00000433615;ENST00000428595	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	T	0.63616	0.2526	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60915	-0.7168	4	.	.	.	-1.0995	14.2943	0.66302	0.0:0.1483:0.8517:0.0	.	.	.	.	T	130;78	.	.	A	+	1	0	UBAP2L	152496489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.208000	0.58486	2.890000	0.99128	0.655000	0.94253	GCC	UBAP2L	-	NULL	ENSG00000143569		0.468	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	112	0.00	0	G	NM_014847		154229865	154229865	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433615	ensembl	human	known	69_37n	missense	132	29.03	54	SNP	1.000	A
UBN1	29855	genome.wustl.edu	37	16	4924243	4924243	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:4924243C>A	ENST00000396658.4	+	14	2535	c.1832C>A	c.(1831-1833)tCt>tAt	p.S611Y	UBN1_ENST00000262376.6_Missense_Mutation_p.S611Y|UBN1_ENST00000590769.1_Missense_Mutation_p.S611Y|UBN1_ENST00000545171.1_Missense_Mutation_p.S611Y	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	611					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAAAGGTTTCTGTCCCATCA	0.493																																						dbGAP											0													108.0	118.0	115.0					16																	4924243		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1832C>A	16.37:g.4924243C>A	ENSP00000379894:p.Ser611Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	NULL	p.S611Y	ENST00000396658.4	37	c.1832	CCDS10525.1	16	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785520	0.70337	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.49720	1.37;0.77;1.37	4.64	4.64	0.57946	.	0.105902	0.42821	D	0.000649	T	0.64000	0.2559	M	0.67953	2.075	0.45318	D	0.998316	D;D	0.64830	0.994;0.978	P;P	0.60682	0.878;0.641	T	0.67952	-0.5537	10	0.72032	D	0.01	-13.7266	16.2314	0.82344	0.0:1.0:0.0:0.0	.	611;611	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	Y	611	ENSP00000262376:S611Y;ENSP00000442379:S611Y;ENSP00000379894:S611Y	ENSP00000262376:S611Y	S	+	2	0	UBN1	4864244	0.886000	0.30341	0.914000	0.36105	0.967000	0.64934	3.239000	0.51360	2.575000	0.86900	0.561000	0.74099	TCT	UBN1	-	NULL	ENSG00000118900		0.493	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1	390	0.00	0	C	NM_016936		4924243	4924243	+1	no_errors	ENST00000262376	ensembl	human	known	69_37n	missense	201	43.06	152	SNP	0.978	A
UBN2	254048	genome.wustl.edu	37	7	138946364	138946364	+	Frame_Shift_Del	DEL	G	G	-	rs150369714		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:138946364delG	ENST00000473989.3	+	6	1272	c.1272delG	c.(1270-1272)tcgfs	p.S424fs	UBN2_ENST00000288561.8_Frame_Shift_Del_p.S341fs	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	424						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TATCTGAGTCGGGGGGTGAAA	0.488																																						dbGAP											0													79.0	77.0	78.0					7																	138946364		1917	4120	6037	-	-	-	SO:0001589	frameshift_variant	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1272delG	7.37:g.138946364delG	ENSP00000418648:p.Ser424fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Frame_Shift_Del	DEL	NULL	p.G426fs	ENST00000473989.3	37	c.1272	CCDS43655.2	7																																																																																			UBN2	-	NULL	ENSG00000157741		0.488	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	131	0.00	0	G	NM_173569		138946364	138946364	+1	no_errors	ENST00000473989	ensembl	human	known	69_37n	frame_shift_del	69	35.14	39	DEL	0.127	-
UBR4	23352	genome.wustl.edu	37	1	19489050	19489050	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:19489050G>A	ENST00000375254.3	-	35	4847	c.4820C>T	c.(4819-4821)aCg>aTg	p.T1607M	UBR4_ENST00000375226.2_Missense_Mutation_p.T1607M|UBR4_ENST00000375267.2_Missense_Mutation_p.T1607M|UBR4_ENST00000375217.2_Missense_Mutation_p.T1607M	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1607					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGGGCATTCGTGACATCAGC	0.498																																						dbGAP											0													109.0	93.0	98.0					1																	19489050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4820C>T	1.37:g.19489050G>A	ENSP00000364403:p.Thr1607Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.T1607M	ENST00000375254.3	37	c.4820	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762482	0.49574	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.98	5.98	0.97165	.	0.050047	0.85682	D	0.000000	T	0.45337	0.1337	N	0.02011	-0.69	0.80722	D	1	B	0.22851	0.076	B	0.16289	0.015	T	0.44128	-0.9348	10	0.48119	T	0.1	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1607	Q5T4S7	UBR4_HUMAN	M	1607;1607;1607;1607;317;823	ENSP00000364403:T1607M;ENSP00000364416:T1607M;ENSP00000364365:T1607M;ENSP00000364374:T1607M	ENSP00000364365:T1607M	T	-	2	0	UBR4	19361637	1.000000	0.71417	0.975000	0.42487	0.842000	0.47809	6.884000	0.75600	2.847000	0.97988	0.591000	0.81541	ACG	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	193	0.00	0	G	NM_020765		19489050	19489050	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	102	41.71	73	SNP	0.998	A
UBXN8	7993	genome.wustl.edu	37	8	30614352	30614352	+	RNA	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:30614352C>A	ENST00000519246.1	+	0	675							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						CAGAACTTGCCTAAACCTTTA	0.428																																					Colon(169;855 1943 17895 39459 47884)	dbGAP											0													114.0	106.0	109.0					8																	30614352		1943	4141	6084	-	-	-			0			D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30614352C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z6F2	RNA	SNP	-	NULL	ENST00000519246.1	37	NULL		8																																																																																			UBXN8	-	-	ENSG00000104691		0.428	UBXN8-001	KNOWN	basic	processed_transcript	UBXN8	HGNC	processed_transcript	OTTHUMT00000375957.1	55	0.00	0	C	NM_005671		30614352	30614352	+1	no_errors	ENST00000265616	ensembl	human	known	69_37n	rna	40	33.33	20	SNP	0.665	A
UGGT2	55757	genome.wustl.edu	37	13	96636086	96636086	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:96636086A>G	ENST00000376747.3	-	10	1134	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T	UGGT2_ENST00000467305.1_5'Flank|UGGT2_ENST00000376714.3_3'UTR	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	355					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTCTTCTCTCATATGTTGATT	0.279																																						dbGAP											0													44.0	45.0	45.0					13																	96636086		2189	4284	6473	-	-	-	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1064T>C	13.37:g.96636086A>G	ENSP00000365938:p.Met355Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.M355T	ENST00000376747.3	37	c.1064	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	A	17.82	3.483701	0.63962	.	.	ENSG00000102595	ENST00000376747	T	0.30448	1.53	5.71	4.54	0.55810	.	0.077348	0.85682	N	0.000000	T	0.42086	0.1187	M	0.83118	2.625	0.80722	D	1	P	0.50943	0.94	P	0.46585	0.521	T	0.45963	-0.9225	10	0.72032	D	0.01	-7.685	9.7331	0.40372	0.9181:0.0:0.0819:0.0	.	355	Q9NYU1	UGGG2_HUMAN	T	355	ENSP00000365938:M355T	ENSP00000365938:M355T	M	-	2	0	UGGT2	95434087	1.000000	0.71417	0.782000	0.31804	0.912000	0.54170	6.696000	0.74598	1.005000	0.39183	0.383000	0.25322	ATG	UGGT2	-	NULL	ENSG00000102595		0.279	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	55	0.00	0	A	NM_020121		96636086	96636086	-1	no_errors	ENST00000376747	ensembl	human	known	69_37n	missense	17	41.38	12	SNP	0.998	G
UGT1A6	54578	genome.wustl.edu	37	2	234681067	234681067	+	Silent	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:234681067C>A	ENST00000305139.6	+	5	1600	c.1461C>A	c.(1459-1461)tcC>tcA	p.S487S	UGT1A4_ENST00000373409.3_Silent_p.S489S|UGT1A7_ENST00000373426.3_Silent_p.S485S|UGT1A1_ENST00000609767.1_Silent_p.S489S|UGT1A8_ENST00000305208.5_Silent_p.S488S|UGT1A9_ENST00000354728.4_Silent_p.S485S|UGT1A3_ENST00000482026.1_Silent_p.S489S|UGT1A5_ENST00000373414.3_Silent_p.S489S|UGT1A1_ENST00000609637.1_Silent_p.S485S|UGT1A1_ENST00000608383.1_Silent_p.S488S|UGT1A10_ENST00000344644.5_Silent_p.S485S|UGT1A6_ENST00000373424.1_Silent_p.S220S|UGT1A1_ENST00000608381.1_Silent_p.S489S|UGT1A1_ENST00000373450.4_Silent_p.S485S	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	487					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AGTACCATTCCTTGGACGTGA	0.562																																						dbGAP											0													173.0	141.0	152.0					2																	234681067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1461C>A	2.37:g.234681067C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK6|B8K289|Q96TE7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S489	ENST00000305139.6	37	c.1467	CCDS2507.1	2																																																																																			UGT1A4	-	pfam_UDP_glucos_trans	ENSG00000244474		0.562	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130988.1	127	0.00	0	C	NM_205862		234681067	234681067	+1	no_errors	ENST00000373409	ensembl	human	known	69_37n	silent	89	38.19	55	SNP	0.453	A
UNC13D	201294	genome.wustl.edu	37	17	73836605	73836605	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:73836605C>T	ENST00000207549.4	-	9	1115	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.V246M	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	246	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCAGAACCACGTTCCCCAGA	0.627									Familial Hemophagocytic Lymphohistiocytosis																													dbGAP											0													91.0	95.0	94.0					17																	73836605		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.736G>A	17.37:g.73836605C>T	ENSP00000207549:p.Val246Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWG9|Q9H7K5	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V246M	ENST00000207549.4	37	c.736	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652295	0.67472	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.48201	0.82;0.82	4.55	3.57	0.40892	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.087069	0.46442	D	0.000294	T	0.55513	0.1925	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.64830	0.994;0.992	P;P	0.53360	0.579;0.724	T	0.59032	-0.7530	10	0.54805	T	0.06	0.1429	14.0361	0.64646	0.1517:0.8483:0.0:0.0	.	246;246	B4DTQ6;Q70J99	.;UN13D_HUMAN	M	246	ENSP00000207549:V246M;ENSP00000388093:V246M	ENSP00000207549:V246M	V	-	1	0	UNC13D	71348200	0.377000	0.25106	0.995000	0.50966	0.984000	0.73092	0.821000	0.27338	0.893000	0.36288	0.551000	0.68910	GTG	UNC13D	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000092929		0.627	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	45	0.00	0	C	XM_113950		73836605	73836605	-1	no_errors	ENST00000412096	ensembl	human	known	69_37n	missense	36	46.27	31	SNP	0.999	T
UNC50	25972	genome.wustl.edu	37	2	99232795	99232795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:99232795delT	ENST00000357765.2	+	4	679	c.527delT	c.(526-528)cttfs	p.L176fs	UNC50_ENST00000409975.1_Frame_Shift_Del_p.L193fs|UNC50_ENST00000409347.1_Frame_Shift_Del_p.L193fs	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	176					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTATCCAGCTTTTTTTCATC	0.408																																						dbGAP											0													218.0	201.0	207.0					2																	99232795		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.527delT	2.37:g.99232795delT	ENSP00000350409:p.Leu176fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Frame_Shift_Del	DEL	pfam_UNC-50	p.F195fs	ENST00000357765.2	37	c.578	CCDS2035.1	2																																																																																			UNC50	-	pfam_UNC-50	ENSG00000115446		0.408	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC50	HGNC	protein_coding	OTTHUMT00000252987.1	285	0.00	0	T	NM_014044		99232795	99232795	+1	no_errors	ENST00000409347	ensembl	human	known	69_37n	frame_shift_del	167	38.79	109	DEL	0.997	-
UQCRC2	7385	genome.wustl.edu	37	16	21982932	21982932	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:21982932T>C	ENST00000268379.4	+	9	1521	c.757T>C	c.(757-759)Tac>Cac	p.Y253H	UQCRC2_ENST00000561553.1_Missense_Mutation_p.Y253H	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	253					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AAAGGCCAACTACCGTGGAGG	0.428																																					Colon(123;450 1645 12841 25393 45623)	dbGAP											0													115.0	104.0	108.0					16																	21982932		2198	4300	6498	-	-	-	SO:0001583	missense	0			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.757T>C	16.37:g.21982932T>C	ENSP00000268379:p.Tyr253His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.Y253H	ENST00000268379.4	37	c.757	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071595	0.55646	.	.	ENSG00000140740	ENST00000268379	T	0.50548	0.74	4.86	4.86	0.63082	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79864	-0.1623	10	0.87932	D	0	-8.2291	13.5798	0.61896	0.0:0.0:0.0:1.0	.	253	P22695	QCR2_HUMAN	H	253	ENSP00000268379:Y253H	ENSP00000268379:Y253H	Y	+	1	0	UQCRC2	21890433	1.000000	0.71417	0.892000	0.35008	0.238000	0.25445	7.346000	0.79347	1.948000	0.56530	0.454000	0.30748	TAC	UQCRC2	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	ENSG00000140740		0.428	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	110	0.00	0	T	NM_003366		21982932	21982932	+1	no_errors	ENST00000268379	ensembl	human	known	69_37n	missense	34	53.42	39	SNP	0.995	C
USH2A	7399	genome.wustl.edu	37	1	216262358	216262358	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:216262358T>C	ENST00000307340.3	-	23	5268	c.4882A>G	c.(4882-4884)Aca>Gca	p.T1628A	RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.T1628A|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1628	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTTACCTGTATATATCCCA	0.333										HNSCC(13;0.011)																												dbGAP											0													164.0	155.0	158.0					1																	216262358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4882A>G	1.37:g.216262358T>C	ENSP00000305941:p.Thr1628Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T1628A	ENST00000307340.3	37	c.4882	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.131116	0.37630	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77877	-1.13;-1.13	5.61	4.45	0.53987	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.155151	0.29783	N	0.011220	T	0.71978	0.3404	L	0.41356	1.27	0.29104	N	0.881264	P	0.38617	0.64	B	0.42386	0.386	T	0.65421	-0.6172	10	0.30854	T	0.27	.	11.85	0.52405	0.1312:0.0:0.0:0.8688	.	1628	O75445	USH2A_HUMAN	A	1628	ENSP00000305941:T1628A;ENSP00000355910:T1628A	ENSP00000305941:T1628A	T	-	1	0	USH2A	214328981	1.000000	0.71417	0.700000	0.30305	0.003000	0.03518	3.129000	0.50500	0.918000	0.36919	0.533000	0.62120	ACA	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G	ENSG00000042781		0.333	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	349	0.00	0	T	NM_007123		216262358	216262358	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	222	33.13	110	SNP	0.896	C
USHBP1	83878	genome.wustl.edu	37	19	17367326	17367326	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:17367326G>A	ENST00000252597.3	-	9	1597	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.P411L	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCCAGTCGGGGAAGAGCTGG	0.602																																						dbGAP											0													74.0	78.0	76.0					19																	17367326		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1424C>T	19.37:g.17367326G>A	ENSP00000252597:p.Pro475Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain	p.P475L	ENST00000252597.3	37	c.1424	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479624	0.44044	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.17854	2.25;2.25	4.9	4.9	0.64082	.	0.074763	0.52532	D	0.000068	T	0.35068	0.0919	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.13926	-1.0491	10	0.08837	T	0.75	-20.0343	13.599	0.62007	0.0:0.0:1.0:0.0	.	411;475	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	L	475;411	ENSP00000252597:P475L;ENSP00000407902:P411L	ENSP00000252597:P475L	P	-	2	0	USHBP1	17228326	0.999000	0.42202	0.992000	0.48379	0.035000	0.12851	2.867000	0.48428	2.282000	0.76494	0.655000	0.94253	CCC	USHBP1	-	NULL	ENSG00000130307		0.602	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1	72	0.00	0	G	NM_031941		17367326	17367326	-1	no_errors	ENST00000252597	ensembl	human	known	69_37n	missense	47	42.68	35	SNP	0.927	A
USP25	29761	genome.wustl.edu	37	21	17150335	17150335	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr21:17150335A>T	ENST00000285679.6	+	4	750	c.381A>T	c.(379-381)caA>caT	p.Q127H	USP25_ENST00000351097.5_Missense_Mutation_p.Q127H|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000400183.2_Missense_Mutation_p.Q127H|USP25_ENST00000285681.2_Missense_Mutation_p.Q127H	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	127					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATGAGGAACAAGCCATTAGCA	0.333																																						dbGAP											0													57.0	57.0	57.0					21																	17150335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.381A>T	21.37:g.17150335A>T	ENSP00000285679:p.Gln127His	Somatic		WXS	Illumina GAIIx	Phase_IV	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.Q127H	ENST00000285679.6	37	c.381	CCDS33515.1	21	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323942	0.60634	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.34667	1.77;1.76;1.35;1.78	4.9	2.39	0.29439	Ubiquitin interacting motif (1);	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	L	0.40543	1.245	0.53005	D	0.999963	D;D;D;D	0.71674	0.996;0.996;0.997;0.998	D;D;D;D	0.83275	0.93;0.992;0.946;0.996	T	0.13522	-1.0506	10	0.32370	T	0.25	.	9.533	0.39205	0.852:0.0:0.148:0.0	.	127;127;127;127	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	H	127	ENSP00000285681:Q127H;ENSP00000285679:Q127H;ENSP00000299574:Q127H;ENSP00000383044:Q127H	ENSP00000285679:Q127H	Q	+	3	2	USP25	16072206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.810000	0.55613	0.269000	0.21961	0.477000	0.44152	CAA	USP25	-	pfam_Ubiquitin-int_motif,superfamily_UBA-like	ENSG00000155313		0.333	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	119	0.00	0	A			17150335	17150335	+1	no_errors	ENST00000400183	ensembl	human	known	69_37n	missense	56	38.46	35	SNP	1.000	T
USP42	84132	genome.wustl.edu	37	7	6196443	6196443	+	Frame_Shift_Del	DEL	A	A	-	rs375651984		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:6196443delA	ENST00000306177.5	+	16	3858	c.3700delA	c.(3700-3702)aaafs	p.K1241fs		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1241	Lys-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCACAGACACAAAAAAAAGAA	0.443																																						dbGAP											0													32.0	33.0	32.0					7																	6196443		2002	4212	6214	-	-	-	SO:0001589	frameshift_variant	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3700delA	7.37:g.6196443delA	ENSP00000301962:p.Lys1241fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.K1236fs	ENST00000306177.5	37	c.3700	CCDS47535.1	7																																																																																			USP42	-	NULL	ENSG00000106346		0.443	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	41	0.00	0	A	XM_166526		6196443	6196443	+1	no_errors	ENST00000306177	ensembl	human	known	69_37n	frame_shift_del	17	32.00	8	DEL	0.495	-
USP50	373509	genome.wustl.edu	37	15	50831018	50831018	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:50831018C>T	ENST00000532404.1	-	5	864	c.691G>A	c.(691-693)Gca>Aca	p.A231T	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	236	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.A236T(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		CAGGTCAGTGCGTCTTGTTGA	0.398																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											89.0	84.0	85.0					15																	50831018		1874	4096	5970	-	-	-	SO:0001583	missense	0			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.691G>A	15.37:g.50831018C>T	ENSP00000434676:p.Ala231Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PP86	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.A231T	ENST00000532404.1	37	c.691	CCDS53944.1	15	.	.	.	.	.	.	.	.	.	.	C	4.135	0.023356	0.08006	.	.	ENSG00000170236	ENST00000532404	T	0.27720	1.65	5.41	4.27	0.50696	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.247279	0.38272	N	0.001741	T	0.06280	0.0162	N	0.00204	-1.855	0.21445	N	0.999687	B	0.06786	0.001	B	0.01281	0.0	T	0.34054	-0.9844	10	0.06625	T	0.88	-9.0486	8.9624	0.35856	0.0:0.086:0.0:0.914	.	236	Q70EL3	UBP50_HUMAN	T	231	ENSP00000434676:A231T	ENSP00000434014:A6T	A	-	1	0	USP50	48618310	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.082000	0.50128	0.911000	0.36747	-0.290000	0.09829	GCA	USP50	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000170236		0.398	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP50	HGNC	protein_coding	OTTHUMT00000395249.1	116	0.00	0	C			50831018	50831018	-1	no_errors	ENST00000532404	ensembl	human	known	69_37n	missense	77	36.89	45	SNP	1.000	T
UXS1	80146	genome.wustl.edu	37	2	106761814	106761814	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:106761814C>T	ENST00000409501.3	-	6	346	c.289G>A	c.(289-291)Gca>Aca	p.A97T	UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_Missense_Mutation_p.A40T|UXS1_ENST00000283148.7_Missense_Mutation_p.A102T			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	97					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ACGAACCCTGCGCCTCCTGTT	0.547																																						dbGAP											0													73.0	73.0	73.0					2																	106761814		2108	4233	6341	-	-	-	SO:0001583	missense	0			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.289G>A	2.37:g.106761814C>T	ENSP00000387019:p.Ala97Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBX3|Q9H5C2	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.A102T	ENST00000409501.3	37	c.304	CCDS46378.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059807	0.76074	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.84	4.95	0.65309	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.97693	1.0180	10	0.72032	D	0.01	-8.3853	16.8776	0.86056	0.0:0.8717:0.1283:0.0	.	102;97	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	T	102;40;97;40	ENSP00000283148:A102T;ENSP00000438265:A40T;ENSP00000387019:A97T;ENSP00000399316:A40T	ENSP00000283148:A102T	A	-	1	0	UXS1	106128246	1.000000	0.71417	0.309000	0.25155	0.314000	0.28054	7.456000	0.80751	1.433000	0.47394	0.650000	0.86243	GCA	UXS1	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_3Beta_OHSteriod_DH/Estase	ENSG00000115652		0.547	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	53	0.00	0	C	NM_025076.3		106761814	106761814	-1	no_errors	ENST00000283148	ensembl	human	known	69_37n	missense	30	49.15	29	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82834287	82834287	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:82834287C>T	ENST00000265077.3	+	8	6030	c.5465C>T	c.(5464-5466)aCc>aTc	p.T1822I	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.T835I|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1822	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GAAGGGCTGACCACTCTCCCA	0.488																																						dbGAP											0													65.0	72.0	70.0					5																	82834287		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5465C>T	5.37:g.82834287C>T	ENSP00000265077:p.Thr1822Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.T1822I	ENST00000265077.3	37	c.5465	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445285	0.63178	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.89270	-2.49;-2.49;2.71	5.82	5.82	0.92795	.	0.610489	0.16335	N	0.218971	D	0.88194	0.6371	L	0.34521	1.04	0.80722	D	1	P;P	0.44478	0.836;0.747	P;B	0.47206	0.541;0.34	D	0.88118	0.2830	10	0.54805	T	0.06	.	18.2796	0.90094	0.0:1.0:0.0:0.0	.	835;1822	P13611-2;P13611	.;CSPG2_HUMAN	I	1822;835;835	ENSP00000265077:T1822I;ENSP00000340062:T835I;ENSP00000426251:T835I	ENSP00000265077:T1822I	T	+	2	0	VCAN	82870043	0.011000	0.17503	0.031000	0.17742	0.005000	0.04900	2.616000	0.46376	2.752000	0.94435	0.655000	0.94253	ACC	VCAN	-	NULL	ENSG00000038427		0.488	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	274	0.00	0	C	NM_004385		82834287	82834287	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	missense	158	35.77	88	SNP	0.281	T
VCL	7414	genome.wustl.edu	37	10	75863617	75863617	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:75863617A>G	ENST00000211998.4	+	15	2156	c.2062A>G	c.(2062-2064)Aat>Gat	p.N688D	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000372755.3_Missense_Mutation_p.N688D	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	688	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GAACCCTGGAAATCAAGCTGC	0.408																																						dbGAP											0													197.0	166.0	176.0					10																	75863617		2203	4300	6503	-	-	-	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2062A>G	10.37:g.75863617A>G	ENSP00000211998:p.Asn688Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.N688D	ENST00000211998.4	37	c.2062	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097998	0.76870	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.37411	1.2;1.2;1.2	5.89	5.89	0.94794	.	0.099077	0.64402	D	0.000002	T	0.59307	0.2184	M	0.65498	2.005	0.80722	D	1	P;D;D	0.60575	0.923;0.988;0.979	D;D;D	0.74023	0.942;0.975;0.982	T	0.60910	-0.7169	10	0.59425	D	0.04	.	16.3083	0.82859	1.0:0.0:0.0:0.0	.	615;688;688	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	D	688;688;595;615;360	ENSP00000361841:N688D;ENSP00000211998:N688D;ENSP00000415489:N360D	ENSP00000211998:N688D	N	+	1	0	VCL	75533623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.711000	0.91396	2.250000	0.74265	0.455000	0.32223	AAT	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.408	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		117	0.00	0	A	NM_003373, NM_014000		75863617	75863617	+1	no_errors	ENST00000211998	ensembl	human	known	69_37n	missense	97	32.64	47	SNP	1.000	G
VCPIP1	80124	genome.wustl.edu	37	8	67577518	67577518	+	Missense_Mutation	SNP	T	T	C	rs552540478		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:67577518T>C	ENST00000310421.4	-	1	1934	c.1676A>G	c.(1675-1677)gAt>gGt	p.D559G	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	559					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCTGTCTCCATCCAAATACAC	0.443													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21648	0.0		0.0	False		,,,				2504	0.0				NSCLC(179;265 2915 6144 43644)	dbGAP											0													176.0	153.0	161.0					8																	67577518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1676A>G	8.37:g.67577518T>C	ENSP00000309031:p.Asp559Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.D559G	ENST00000310421.4	37	c.1676	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990060	0.54041	.	.	ENSG00000175073	ENST00000310421	T	0.37584	1.19	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.54323	1.7	0.80722	D	1	D	0.61080	0.989	P	0.48704	0.587	T	0.47787	-0.9090	10	0.87932	D	0	-14.1241	14.9898	0.71377	0.0:0.0:0.0:1.0	.	559	Q96JH7	VCIP1_HUMAN	G	559	ENSP00000309031:D559G	ENSP00000309031:D559G	D	-	2	0	VCPIP1	67740072	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.997000	0.88414	1.988000	0.58038	0.528000	0.53228	GAT	VCPIP1	-	NULL	ENSG00000175073		0.443	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	293	0.00	0	T			67577518	67577518	-1	no_errors	ENST00000310421	ensembl	human	known	69_37n	missense	166	38.52	104	SNP	1.000	C
VDAC1	7416	genome.wustl.edu	37	5	133311613	133311613	+	Silent	SNP	C	C	T	rs542220207	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:133311613C>T	ENST00000265333.3	-	7	895	c.651G>A	c.(649-651)acG>acA	p.T217T	VDAC1_ENST00000395047.2_Silent_p.T217T|VDAC1_ENST00000395044.3_Silent_p.T217T	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	217					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TTCCGAAGCGCGTGTTACTGT	0.527													C|||	4	0.000798722	0.0	0.0	5008	,	,		21373	0.0		0.0	False		,,,				2504	0.0041				NSCLC(127;1776 1806 35523 41489 48154)	dbGAP											0													164.0	157.0	159.0					5																	133311613		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.651G>A	5.37:g.133311613C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Silent	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.T217	ENST00000265333.3	37	c.651	CCDS4168.1	5																																																																																			VDAC1	-	pfam_Porin_Euk	ENSG00000213585		0.527	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	163	0.00	0	C			133311613	133311613	-1	no_errors	ENST00000265333	ensembl	human	known	69_37n	silent	235	26.56	85	SNP	0.986	T
VEZT	55591	genome.wustl.edu	37	12	95693924	95693924	+	Intron	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:95693924delT	ENST00000436874.1	+	12	1936				VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Intron	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein						chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ttcttttttctttttttttat	0.289																																						dbGAP											0													6.0	5.0	5.0					12																	95693924		1533	3515	5048	-	-	-	SO:0001627	intron_variant	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.1832-17T>-	12.37:g.95693924delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	RNA	DEL	-	NULL	ENST00000436874.1	37	NULL	CCDS44954.1	12																																																																																			VEZT	-	-	ENSG00000028203		0.289	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	15	0.00	0	T	NM_017599		95693924	95693924	+1	no_errors	ENST00000356859	ensembl	human	known	69_37n	rna	3	62.50	5	DEL	0.027	-
VLDLR	7436	genome.wustl.edu	37	9	2652920	2652920	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:2652920A>G	ENST00000382100.3	+	18	2913	c.2557A>G	c.(2557-2559)Agt>Ggt	p.S853G	VLDLR_ENST00000382099.2_Missense_Mutation_p.S825G	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	853					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGGTAGACACAGTGCTTCTGT	0.448																																						dbGAP											0													174.0	151.0	159.0					9																	2652920		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2557A>G	9.37:g.2652920A>G	ENSP00000371532:p.Ser853Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S853G	ENST00000382100.3	37	c.2557	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	A	13.39	2.222218	0.39300	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	T;T	0.72394	-0.65;-0.65	5.58	4.44	0.53790	.	0.000000	0.64402	D	0.000006	T	0.55289	0.1911	L	0.29908	0.895	0.46260	D	0.998953	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.13407	0.009;0.004;0.004	T	0.46789	-0.9166	10	0.23891	T	0.37	.	8.9472	0.35767	0.8567:0.0:0.1433:0.0	.	825;825;853	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	G	853;825;732	ENSP00000371532:S853G;ENSP00000371531:S825G	ENSP00000371524:S732G	S	+	1	0	VLDLR	2642920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.842000	0.48230	1.059000	0.40554	0.482000	0.46254	AGT	VLDLR	-	NULL	ENSG00000147852		0.448	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	180	0.00	0	A	NM_003383		2652920	2652920	+1	no_errors	ENST00000382100	ensembl	human	known	69_37n	missense	68	46.03	58	SNP	1.000	G
VMA21	203547	genome.wustl.edu	37	X	150573406	150573406	+	Missense_Mutation	SNP	A	A	T	rs141926826	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:150573406A>T	ENST00000330374.6	+	3	287	c.182A>T	c.(181-183)aAt>aTt	p.N61I	VMA21_ENST00000477649.1_3'UTR|VMA21_ENST00000370361.1_Missense_Mutation_p.N116I	NM_001017980.3	NP_001017980.1			VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						GGGATGTCCAATAGGGACAGC	0.418																																						dbGAP											0													127.0	104.0	112.0					X																	150573406		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096835	CCDS35430.1	Xq28	2014-09-17			ENSG00000160131	ENSG00000160131			22082	protein-coding gene	gene with protein product		300913	"""myopathy with excessive autophagy"""	MEAX		2892402, 10757644, 19379691	Standard	NM_001017980		Approved	XMEA	uc004feu.3	Q3ZAQ7	OTTHUMG00000024168	ENST00000330374.6:c.182A>T	X.37:g.150573406A>T	ENSP00000333255:p.Asn61Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VMA21-like_domain	p.N116I	ENST00000330374.6	37	c.347	CCDS35430.1	X	.	.	.	.	.	.	.	.	.	.	.	15.65	2.895989	0.52121	.	.	ENSG00000160131	ENST00000370361;ENST00000330374	.	.	.	5.8	1.93	0.25924	Vacuolar ATPase assembly integral membrane protein VMA21-like domain (1);	0.095432	0.64402	D	0.000001	T	0.54191	0.1843	M	0.72353	2.195	0.44352	D	0.997249	B	0.30406	0.278	B	0.36504	0.226	T	0.47005	-0.9150	9	0.51188	T	0.08	-3.0949	5.232	0.15426	0.6859:0.1487:0.1654:0.0	.	61	Q3ZAQ7	VMA21_HUMAN	I	116;61	.	ENSP00000333255:N61I	N	+	2	0	VMA21	150324064	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	2.851000	0.48302	-0.016000	0.14127	0.486000	0.48141	AAT	VMA21	-	pfam_VMA21-like_domain	ENSG00000160131		0.418	VMA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMA21	HGNC	protein_coding	OTTHUMT00000060876.1	177	0.00	0	A	NM_001017980		150573406	150573406	+1	no_errors	ENST00000370361	ensembl	human	known	69_37n	missense	56	56.25	72	SNP	0.998	T
VPS25	84313	genome.wustl.edu	37	17	40931072	40931072	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:40931072C>T	ENST00000253794.2	+	6	556	c.516C>T	c.(514-516)ggC>ggT	p.G172G	WNK4_ENST00000246914.5_5'Flank	NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	172					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ATGGCCGAGGCGTCAAGTTCT	0.572																																						dbGAP											0													84.0	72.0	76.0					17																	40931072		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"""vacuolar protein sorting 25 (yeast)"""			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.516C>T	17.37:g.40931072C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R581	Missense_Mutation	SNP	pfam_ESCRT-II_cplx_vps25-sub	p.R107C	ENST00000253794.2	37	c.319	CCDS11438.1	17																																																																																			VPS25	-	NULL	ENSG00000131475		0.572	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS25	HGNC	protein_coding	OTTHUMT00000452383.1	51	0.00	0	C	NM_032353		40931072	40931072	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000589520	ensembl	human	novel	69_37n	missense	22	38.89	14	SNP	0.112	T
VPS39	23339	genome.wustl.edu	37	15	42454679	42454679	+	Splice_Site	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:42454679C>A	ENST00000348544.4	-	23	2208	c.2209G>T	c.(2209-2211)Gtg>Ttg	p.V737L	VPS39_ENST00000318006.5_Splice_Site_p.V726L			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	737					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GACAGATACACCTGTCTCAGA	0.582																																						dbGAP											0													56.0	46.0	49.0					15																	42454679		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2209-1G>T	15.37:g.42454679C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.V737L	ENST00000348544.4	37	c.2209	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.417277	0.96092	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.44881	0.91;0.92	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	L	0.46670	1.46	0.80722	D	1	D;D	0.62365	0.984;0.991	P;P	0.61874	0.788;0.895	T	0.36383	-0.9750	10	0.10636	T	0.68	-17.0853	19.6454	0.95775	0.0:1.0:0.0:0.0	.	737;726	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	L	726;737	ENSP00000326534:V726L;ENSP00000335193:V737L	ENSP00000326534:V726L	V	-	1	0	VPS39	40241971	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.445000	0.80570	2.714000	0.92807	0.561000	0.74099	GTG	VPS39	-	NULL	ENSG00000166887		0.582	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	41	0.00	0	C	NM_015289	Missense_Mutation	42454679	42454679	-1	no_errors	ENST00000348544	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	1.000	A
VPS45	11311	genome.wustl.edu	37	1	150039879	150039879	+	5'UTR	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:150039879C>T	ENST00000369130.3	+	0	511				VPS45_ENST00000535106.1_5'UTR|VPS45_ENST00000369128.5_Intron	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAAAGGGGGCGGGAAGGGCT	0.572																																						dbGAP											0													83.0	88.0	86.0					1																	150039879		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.-36C>T	1.37:g.150039879C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	RNA	SNP	-	NULL	ENST00000369130.3	37	NULL	CCDS944.1	1																																																																																			VPS45	-	-	ENSG00000136631		0.572	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	69	0.00	0	C	NM_007259		150039879	150039879	+1	no_errors	ENST00000460366	ensembl	human	known	69_37n	rna	82	28.45	33	SNP	0.951	T
VPS52	6293	genome.wustl.edu	37	6	33237282	33237282	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:33237282A>G	ENST00000445902.2	-	5	575	c.357T>C	c.(355-357)tgT>tgC	p.C119C	VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000439602.2_5'Flank|RPS18_ENST00000474973.1_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	119					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GGACAGCATCACAGGCTGTGA	0.458																																						dbGAP											0													156.0	156.0	156.0					6																	33237282		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.357T>C	6.37:g.33237282A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.C119	ENST00000445902.2	37	c.357	CCDS4770.2	6																																																																																			VPS52	-	pfam_Vps52,pfam_Exocyst_Exoc1	ENSG00000223501		0.458	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	149	0.00	0	A	NM_022553		33237282	33237282	-1	no_errors	ENST00000445902	ensembl	human	known	69_37n	silent	92	36.55	53	SNP	0.998	G
VTCN1	79679	genome.wustl.edu	37	1	117699309	117699309	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:117699309C>T	ENST00000369458.3	-	3	410	c.332G>A	c.(331-333)gGc>gAc	p.G111D	VTCN1_ENST00000359008.4_Missense_Mutation_p.G114D|VTCN1_ENST00000539893.1_Missense_Mutation_p.G16D|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Intron	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGAGGCATTGCCAACTATCAC	0.473																																						dbGAP											0													105.0	99.0	101.0					1																	117699309		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.332G>A	1.37:g.117699309C>T	ENSP00000358470:p.Gly111Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.G114D	ENST00000369458.3	37	c.341	CCDS894.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937725	0.92458	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	T;T;T	0.03272	3.99;3.99;3.99	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.16896	0.0406	M	0.86573	2.825	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	T	0.00196	-1.1931	10	0.87932	D	0	-6.2544	17.3931	0.87437	0.0:1.0:0.0:0.0	.	111	Q7Z7D3	VTCN1_HUMAN	D	111;114;16	ENSP00000358470:G111D;ENSP00000351899:G114D;ENSP00000444724:G16D	ENSP00000351899:G114D	G	-	2	0	VTCN1	117500832	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.625000	0.67770	2.893000	0.99171	0.637000	0.83480	GGC	VTCN1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000134258		0.473	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VTCN1	HGNC	protein_coding	OTTHUMT00000033500.2	181	0.00	0	C	NM_024626		117699309	117699309	-1	no_errors	ENST00000359008	ensembl	human	known	69_37n	missense	97	47.03	87	SNP	1.000	T
VWA7	80737	genome.wustl.edu	37	6	31737814	31737815	+	Frame_Shift_Ins	INS	-	-	C	rs142871734	byFrequency	TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:31737814_31737815insC	ENST00000375688.4	-	8	1363_1364	c.1163_1164insG	c.(1162-1164)ggtfs	p.G388fs	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Frame_Shift_Ins_p.G388fs|VWA7_ENST00000375686.3_Frame_Shift_Ins_p.G388fs			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	388	VWFA.					extracellular region (GO:0005576)											GCTCGTCTCCACCCCCCAAGGC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1164dupG	6.37:g.31737820_31737820dupC	ENSP00000364840:p.Gly388fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Frame_Shift_Ins	INS	NULL	p.G389fs	ENST00000375688.4	37	c.1164_1163	CCDS4721.2	6																																																																																			VWA7	-	NULL	ENSG00000204396		0.599	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	57	0.00	0	-	NM_025258		31737814	31737815	-1	no_errors	ENST00000375686	ensembl	human	known	69_37n	frame_shift_ins	57	34.48	30	INS	0.998:1.000	C
WAS	7454	genome.wustl.edu	37	X	48542741	48542741	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:48542741C>T	ENST00000376701.4	+	2	277	c.202C>T	c.(202-204)Cat>Tat	p.H68Y	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	68	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				GACCAAGGAGCATTGTGGGGC	0.612			"""Mis, N, F, S"""			lymphoma																																dbGAP		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	0													101.0	75.0	84.0					X																	48542741		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.202C>T	X.37:g.48542741C>T	ENSP00000365891:p.His68Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BU11|Q9UNJ9	Missense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.H68Y	ENST00000376701.4	37	c.202	CCDS14303.1	X	.	.	.	.	.	.	.	.	.	.	C	8.368	0.834699	0.16820	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.98762	-5.12;-5.12	4.73	3.87	0.44632	EVH1 (3);Pleckstrin homology-type (1);	0.377447	0.27563	N	0.018811	D	0.96491	0.8855	L	0.32530	0.975	0.35429	D	0.793907	P	0.48230	0.907	P	0.53490	0.727	D	0.94979	0.8124	10	0.02654	T	1	-7.1562	6.6527	0.22971	0.0:0.7759:0.0:0.2241	.	68	P42768	WASP_HUMAN	Y	68	ENSP00000410537:H68Y;ENSP00000365891:H68Y	ENSP00000365891:H68Y	H	+	1	0	WAS	48427685	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.225000	0.32551	0.787000	0.33731	0.287000	0.19450	CAT	WAS	-	pfam_EVH1,smart_EVH1,pfscan_EVH1	ENSG00000015285		0.612	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	WAS	HGNC	protein_coding	OTTHUMT00000083379.1	61	0.00	0	C	NM_000377		48542741	48542741	+1	no_errors	ENST00000376701	ensembl	human	known	69_37n	missense	67	35.24	37	SNP	0.687	T
WASF3	10810	genome.wustl.edu	37	13	27216451	27216451	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr13:27216451delG	ENST00000335327.5	+	3	222	c.44delG	c.(43-45)cggfs	p.R15fs	WASF3_ENST00000361042.4_Frame_Shift_Del_p.R15fs|WASF3-AS1_ENST00000586418.1_RNA|WASF3_ENST00000496788.1_3'UTR|WASF3-AS1_ENST00000413063.1_RNA|WASF3-AS1_ENST00000585599.1_RNA	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	15					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CACTTGTGCCGGGGAGCTCTG	0.443																																						dbGAP											0													98.0	97.0	97.0					13																	27216451		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.44delG	13.37:g.27216451delG	ENSP00000335055:p.Arg15fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94974|Q86VQ2	Frame_Shift_Del	DEL	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.G16fs	ENST00000335327.5	37	c.44	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.443	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	117	0.00	0	G			27216451	27216451	+1	no_errors	ENST00000335327	ensembl	human	known	69_37n	frame_shift_del	132	39.09	86	DEL	1.000	-
WBSCR17	64409	genome.wustl.edu	37	7	70886076	70886076	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:70886076C>A	ENST00000333538.5	+	5	1581	c.947C>A	c.(946-948)cCt>cAt	p.P316H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	316					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCCGGAGACCCTTCTCTCCCC	0.602																																						dbGAP											0													47.0	50.0	49.0					7																	70886076		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.947C>A	7.37:g.70886076C>A	ENSP00000329654:p.Pro316His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P316H	ENST00000333538.5	37	c.947	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495205	0.44352	.	.	ENSG00000185274	ENST00000333538	T	0.60424	0.19	5.32	5.32	0.75619	.	0.180616	0.50627	D	0.000106	T	0.49949	0.1587	L	0.31804	0.96	0.47276	D	0.999375	B	0.14438	0.01	B	0.18263	0.021	T	0.47381	-0.9122	10	0.66056	D	0.02	.	18.0015	0.89199	0.0:1.0:0.0:0.0	.	316	Q6IS24	GLTL3_HUMAN	H	316	ENSP00000329654:P316H	ENSP00000329654:P316H	P	+	2	0	WBSCR17	70524012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.554000	0.60760	2.490000	0.84030	0.557000	0.71058	CCT	WBSCR17	-	NULL	ENSG00000185274		0.602	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	58	0.00	0	C	NM_022479		70886076	70886076	+1	no_errors	ENST00000333538	ensembl	human	known	69_37n	missense	57	42.42	42	SNP	1.000	A
WDR17	116966	genome.wustl.edu	37	4	177052721	177052721	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:177052721A>G	ENST00000280190.4	+	8	1158	c.1002A>G	c.(1000-1002)ccA>ccG	p.P334P	WDR17_ENST00000507824.2_Silent_p.P317P|WDR17_ENST00000508596.1_Silent_p.P310P|WDR17_ENST00000393643.2_Silent_p.P310P			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	334										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCCAATCTCCAACCAAAAATC	0.348																																						dbGAP											0													150.0	148.0	149.0					4																	177052721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1002A>G	4.37:g.177052721A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q83R	ENST00000280190.4	37	c.248	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	A	8.237	0.805881	0.16467	.	.	ENSG00000150627	ENST00000505894	.	.	.	5.44	2.98	0.34508	.	.	.	.	.	T	0.54382	0.1855	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45086	-0.9285	4	.	.	.	-12.6604	5.965	0.19320	0.6163:0.0:0.0738:0.3098	.	.	.	.	R	83	.	.	Q	+	2	0	WDR17	177289715	0.996000	0.38824	0.996000	0.52242	0.849000	0.48306	0.799000	0.27028	0.444000	0.26612	0.528000	0.53228	CAA	WDR17	-	superfamily_WD40_repeat_dom	ENSG00000150627		0.348	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	374	0.00	0	A			177052721	177052721	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000505894	ensembl	human	novel	69_37n	missense	299	11.80	40	SNP	0.998	G
WDR3	10885	genome.wustl.edu	37	1	118482189	118482189	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:118482189G>A	ENST00000349139.5	+	6	716	c.669G>A	c.(667-669)ctG>ctA	p.L223L	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	223						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAGCTTATCTGCAAGAGGTAA	0.388																																						dbGAP											0													100.0	103.0	102.0					1																	118482189		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.669G>A	1.37:g.118482189G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L223	ENST00000349139.5	37	c.669	CCDS898.1	1																																																																																			WDR3	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000065183		0.388	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	407	0.49	2	G	NM_006784		118482189	118482189	+1	no_errors	ENST00000349139	ensembl	human	known	69_37n	silent	216	42.74	162	SNP	0.956	A
WDR44	54521	genome.wustl.edu	37	X	117570666	117570666	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:117570666A>G	ENST00000254029.3	+	14	2248	c.1853A>G	c.(1852-1854)aAc>aGc	p.N618S	WDR44_ENST00000371822.5_Splice_Site_p.N593S|WDR44_ENST00000371825.3_Splice_Site_p.N618S	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	618						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TCCCCATAGAACTACTTTCTT	0.308																																						dbGAP											0													116.0	104.0	108.0					X																	117570666		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1852-1A>G	X.37:g.117570666A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N618S	ENST00000254029.3	37	c.1853	CCDS14572.1	X	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379696	0.82682	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919	T;T;T	0.80653	-1.4;-1.38;-1.38	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	L	0.39397	1.21	0.80722	D	1	P;D;D;P	0.65815	0.939;0.995;0.99;0.933	P;P;P;P	0.60541	0.857;0.876;0.803;0.855	D	0.85951	0.1464	10	0.87932	D	0	-14.6306	14.9807	0.71309	1.0:0.0:0.0:0.0	.	593;618;618;618	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.;.;.;WDR44_HUMAN	S	593;618;618;4	ENSP00000360887:N593S;ENSP00000254029:N618S;ENSP00000360890:N618S	ENSP00000254029:N618S	N	+	2	0	WDR44	117454694	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.229000	0.95273	1.988000	0.58038	0.483000	0.47432	AAC	WDR44	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000131725		0.308	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	143	0.00	0	A	NM_019045	Missense_Mutation	117570666	117570666	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	missense	80	42.86	60	SNP	1.000	G
WDR53	348793	genome.wustl.edu	37	3	196281251	196281251	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:196281251T>C	ENST00000332629.5	-	4	1475	c.908A>G	c.(907-909)aAc>aGc	p.N303S	WDR53_ENST00000433160.1_Missense_Mutation_p.N144S|WDR53_ENST00000429115.1_Missense_Mutation_p.N142S	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	303										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TACTGAAGCGTTAGTATTTCC	0.398																																						dbGAP											0													290.0	252.0	265.0					3																	196281251		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.908A>G	3.37:g.196281251T>C	ENSP00000328079:p.Asn303Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0MNP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N303S	ENST00000332629.5	37	c.908	CCDS3318.1	3	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.081095	0.00371	.	.	ENSG00000185798	ENST00000332629;ENST00000429115;ENST00000433160	T;T;T	0.71698	-0.59;1.61;1.61	5.63	-2.98	0.05513	.	1.703540	0.02654	N	0.106757	T	0.50650	0.1628	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40776	-0.9545	10	0.07644	T	0.81	-4.569	7.7654	0.28976	0.0:0.3996:0.3378:0.2625	.	303	Q7Z5U6	WDR53_HUMAN	S	303;142;144	ENSP00000328079:N303S;ENSP00000396668:N142S;ENSP00000410677:N144S	ENSP00000328079:N303S	N	-	2	0	WDR53	197765648	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.109000	0.10840	-0.417000	0.07461	0.528000	0.53228	AAC	WDR53	-	NULL	ENSG00000185798		0.398	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR53	HGNC	protein_coding	OTTHUMT00000340689.1	243	0.00	0	T	NM_182627		196281251	196281251	-1	no_errors	ENST00000332629	ensembl	human	known	69_37n	missense	159	40.23	107	SNP	0.000	C
WDR81	124997	genome.wustl.edu	37	17	1636972	1636972	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:1636972G>A	ENST00000409644.1	+	7	4641	c.4641G>A	c.(4639-4641)ggG>ggA	p.G1547G	WDR81_ENST00000545662.1_Silent_p.G178G|WDR81_ENST00000446363.1_Silent_p.G186G|WDR81_ENST00000309182.5_Silent_p.G496G|WDR81_ENST00000437219.2_Silent_p.G344G|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.G320G	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1547					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCATGGTGGGGGCTGCCCTC	0.677																																						dbGAP											0													27.0	29.0	28.0					17																	1636972		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4641G>A	17.37:g.1636972G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1547	ENST00000409644.1	37	c.4641	CCDS54062.1	17																																																																																			WDR81	-	NULL	ENSG00000167716		0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	10	0.00	0	G	NM_152348		1636972	1636972	+1	no_errors	ENST00000409644	ensembl	human	known	69_37n	silent	8	55.56	10	SNP	0.014	A
CFAP43	80217	genome.wustl.edu	37	10	105926286	105926286	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:105926286T>C	ENST00000357060.3	-	23	3114	c.2999A>G	c.(2998-3000)cAt>cGt	p.H1000R	WDR96_ENST00000428666.1_Missense_Mutation_p.H1001R	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCTCTGGAATGAAGCTCCAA	0.358																																						dbGAP											0													98.0	93.0	95.0					10																	105926286		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000357060.3:c.2999A>G	10.37:g.105926286T>C	ENSP00000349568:p.His1000Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.H1000R	ENST00000357060.3	37	c.2999	CCDS31281.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.82|15.82	2.947368|2.947368	0.53186|0.53186	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000434629	T;T|.	0.15139|.	2.46;2.45|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.139038|.	0.48286|.	D|.	0.000189|.	T|T	0.74458|0.74458	0.3719|0.3719	M|M	0.71581|0.71581	2.175|2.175	0.51233|0.51233	D|D	0.999919|0.999919	P;D|.	0.56521|.	0.544;0.976|.	B;P|.	0.59012|.	0.34;0.85|.	T|T	0.73956|0.73956	-0.3819|-0.3819	10|5	0.25751|.	T|.	0.34|.	.|.	16.2216|16.2216	0.82262|0.82262	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1001;1000|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	R|V	1000;1001|361	ENSP00000349568:H1000R;ENSP00000400289:H1001R|.	ENSP00000349568:H1000R|.	H|I	-|-	2|1	0|0	WDR96|WDR96	105916276|105916276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.045000|0.045000	0.14185|0.14185	4.734000|4.734000	0.62043|0.62043	2.313000|2.313000	0.78055|0.78055	0.454000|0.454000	0.30748|0.30748	CAT|ATT	WDR96	-	NULL	ENSG00000197748		0.358	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	HGNC	protein_coding		374	0.00	0	T			105926286	105926286	-1	no_errors	ENST00000357060	ensembl	human	known	69_37n	missense	170	35.47	94	SNP	1.000	C
WIPI2	26100	genome.wustl.edu	37	7	5265559	5265559	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:5265559A>G	ENST00000288828.4	+	9	1078	c.846A>G	c.(844-846)gaA>gaG	p.E282E	WIPI2_ENST00000484262.1_Silent_p.E223E|WIPI2_ENST00000404704.3_Silent_p.E282E|WIPI2_ENST00000382384.2_Silent_p.E264E|WIPI2_ENST00000401525.3_Silent_p.E264E	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	282					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		CTGTGAAAGAAAAGTGAGTTG	0.517																																						dbGAP											0													64.0	53.0	56.0					7																	5265559		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.846A>G	7.37:g.5265559A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E282	ENST00000288828.4	37	c.846	CCDS5339.1	7																																																																																			WIPI2	-	superfamily_WD40_repeat_dom	ENSG00000157954		0.517	WIPI2-001	KNOWN	basic|CCDS	protein_coding	WIPI2	HGNC	protein_coding	OTTHUMT00000241669.2	17	0.00	0	A	NM_015610		5265559	5265559	+1	no_errors	ENST00000288828	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.997	G
WNK1	65125	genome.wustl.edu	37	12	977171	977171	+	Intron	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:977171G>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.R760H|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.R845H|WNK1_ENST00000574564.1_Missense_Mutation_p.R59H	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCCAGCGGCGTAAGAGCACC	0.517																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													107.0	109.0	108.0					12																	977171		1932	4138	6070	-	-	-	SO:0001627	intron_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3260G>A	12.37:g.977171G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R845H	ENST00000315939.6	37	c.2534	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244765	0.59103	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.13901	2.55;2.55	5.67	5.67	0.87782	.	.	.	.	.	T	0.40956	0.1138	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07139	-1.0788	8	0.46703	T	0.11	.	19.7725	0.96373	0.0:0.0:1.0:0.0	.	845	F5H2M7	.	H	760;845	ENSP00000444465:R760H;ENSP00000433548:R845H	ENSP00000433548:R845H	R	+	2	0	WNK1	847432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.673000	0.90976	0.467000	0.42956	CGT	WNK1	-	NULL	ENSG00000060237		0.517	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	278	0.00	0	G	NM_018979		977171	977171	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	missense	158	40.45	108	SNP	1.000	A
WNT16	51384	genome.wustl.edu	37	7	120979273	120979273	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:120979273C>T	ENST00000222462.2	+	4	1262	c.972C>T	c.(970-972)tgC>tgT	p.C324C	WNT16_ENST00000361301.2_Silent_p.C314C	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	324					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					ACCTCCTCTGCTGTGGCCGAG	0.527																																						dbGAP											0													147.0	107.0	120.0					7																	120979273		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.972C>T	7.37:g.120979273C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3G1|Q9Y5C0	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.C324	ENST00000222462.2	37	c.972	CCDS5781.1	7																																																																																			WNT16	-	pfam_Wnt,smart_Wnt	ENSG00000002745		0.527	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	98	0.00	0	C	NM_057168		120979273	120979273	+1	no_errors	ENST00000222462	ensembl	human	known	69_37n	silent	61	45.05	50	SNP	1.000	T
XG	7499	genome.wustl.edu	37	X	2729484	2729484	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:2729484A>G	ENST00000381174.5	+	9	742	c.517A>G	c.(517-519)Agg>Ggg	p.R173G	XG_ENST00000426774.1_Missense_Mutation_p.R174G|XG_ENST00000419513.2_Missense_Mutation_p.R188G|snoU13_ENST00000516039.1_RNA			P55808	XG_HUMAN	Xg blood group	173						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAATTGTTTCAGGACCCATGG	0.398																																						dbGAP											0													71.0	65.0	67.0					X																	2729484		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"""Blood group antigens"", ""Pseudoautosomal regions / PAR1"""	12806	protein-coding gene	gene with protein product		300879	"""Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"""	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.517A>G	X.37:g.2729484A>G	ENSP00000370566:p.Arg173Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	pfam_CD99L2	p.R188G	ENST00000381174.5	37	c.562	CCDS14120.1	X	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773167	0.31411	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000533923	T;T;T	0.22336	1.96;1.96;1.96	3.6	-6.11	0.02131	.	0.251007	0.32120	U	0.006559	T	0.10852	0.0265	L	0.29908	0.895	0.09310	N	1	B;B	0.33103	0.224;0.397	B;B	0.33846	0.171;0.107	T	0.10776	-1.0615	10	0.44086	T	0.13	.	7.6396	0.28286	0.2868:0.5712:0.0:0.1419	.	173;188	P55808;P55808-3	XG_HUMAN;.	G	173;188;174;35	ENSP00000370566:R173G;ENSP00000411004:R188G;ENSP00000398503:R174G	ENSP00000370566:R173G	R	+	1	2	XG	2739484	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.011000	0.13264	-0.965000	0.03591	0.314000	0.21332	AGG	XG	-	pfam_CD99L2	ENSG00000124343		0.398	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	XG	HGNC	protein_coding	OTTHUMT00000055633.2	79	0.00	0	A	NM_175569		2729484	2729484	+1	no_errors	ENST00000419513	ensembl	human	known	69_37n	missense	39	40.91	27	SNP	0.000	G
XIAP	331	genome.wustl.edu	37	X	123020211	123020211	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:123020211G>A	ENST00000371199.3	+	2	998	c.699G>A	c.(697-699)cgG>cgA	p.R233R	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Silent_p.R233R|XIAP_ENST00000434753.3_Silent_p.R233R	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	233					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TTTTGGGCCGGAATCTTAATA	0.408									X-linked Lymphoproliferative syndrome																													dbGAP											0													110.0	102.0	105.0					X																	123020211		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.699G>A	X.37:g.123020211G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTF2|Q9NQ14	Silent	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.R233	ENST00000371199.3	37	c.699	CCDS14606.1	X																																																																																			XIAP	-	NULL	ENSG00000101966		0.408	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	XIAP	HGNC	protein_coding	OTTHUMT00000058165.5	135	0.00	0	G	NM_001167		123020211	123020211	+1	no_errors	ENST00000355640	ensembl	human	known	69_37n	silent	90	33.09	45	SNP	0.998	A
XPOT	11260	genome.wustl.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											118.0	114.0	115.0					12																	64812755		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.F126fs	ENST00000332707.5	37	c.370	CCDS31852.1	12																																																																																			XPOT	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000184575		0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	105	0.00	0	T	NM_007235		64812755	64812755	+1	no_errors	ENST00000332707	ensembl	human	known	69_37n	frame_shift_del	77	43.06	62	DEL	1.000	-
XRCC5	7520	genome.wustl.edu	37	2	216992312	216992312	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr2:216992312delA	ENST00000392133.3	+	10	1313	c.852delA	c.(850-852)ctafs	p.L284fs	XRCC5_ENST00000392132.2_Frame_Shift_Del_p.L284fs			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	284	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CAAAAACCCTAAAAAAAGAAG	0.318								Non-homologous end-joining																														dbGAP											0													85.0	91.0	89.0					2																	216992312		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.852delA	2.37:g.216992312delA	ENSP00000375978:p.Leu284fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Frame_Shift_Del	DEL	pfam_Ku_N,pfam_Ku_PK_bind,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,superfamily_SPOC-like,superfamily_Ku_PK_bind,smart_VWF_A,smart_DNA_helicase_ATP-dep_Ku	p.E287fs	ENST00000392133.3	37	c.852	CCDS2402.1	2																																																																																			XRCC5	-	pfam_DNA_helicase_ATP-dep_Ku,superfamily_SPOC-like	ENSG00000079246		0.318	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3	117	0.00	0	A	NM_021141		216992312	216992312	+1	no_errors	ENST00000392132	ensembl	human	known	69_37n	frame_shift_del	73	26.92	28	DEL	0.161	-
XYLT2	64132	genome.wustl.edu	37	17	48433200	48433200	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:48433200C>T	ENST00000017003.2	+	6	1196	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	XYLT2_ENST00000507602.1_Missense_Mutation_p.R383C	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	383					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ACACATGTGGCGCCTGGGCGA	0.597																																						dbGAP											0													73.0	71.0	72.0					17																	48433200		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1147C>T	17.37:g.48433200C>T	ENSP00000017003:p.Arg383Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UY41|Q86V00	Missense_Mutation	SNP	pfam_XylT_met,pfam_Glyco_trans_14	p.R383C	ENST00000017003.2	37	c.1147	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485019	0.63962	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11385	3.27;2.78	4.53	4.53	0.55603	.	0.054787	0.64402	D	0.000001	T	0.40815	0.1132	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51188	-0.8737	10	0.72032	D	0.01	-17.6005	14.116	0.65154	0.1504:0.8496:0.0:0.0	.	383	Q9H1B5	XYLT2_HUMAN	C	383	ENSP00000017003:R383C;ENSP00000426501:R383C	ENSP00000017003:R383C	R	+	1	0	XYLT2	45788199	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.842000	0.55858	2.381000	0.81170	0.508000	0.49915	CGC	XYLT2	-	pfam_Glyco_trans_14	ENSG00000015532		0.597	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	50	0.00	0	C	NM_022167		48433200	48433200	+1	no_errors	ENST00000017003	ensembl	human	known	69_37n	missense	31	34.04	16	SNP	1.000	T
YBX1	4904	genome.wustl.edu	37	1	43161874	43161874	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:43161874C>T	ENST00000321358.7	+	4	408	c.269C>T	c.(268-270)gCc>gTc	p.A90V	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	90	CSD.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACTAGACTGCCATAAAGAAG	0.363																																						dbGAP											0													135.0	126.0	129.0					1																	43161874		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.269C>T	1.37:g.43161874C>T	ENSP00000361626:p.Ala90Val	Somatic		WXS	Illumina GAIIx	Phase_IV	P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.A90V	ENST00000321358.7	37	c.269	CCDS470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.535532|3.535532	0.64972|0.64972	.|.	.|.	ENSG00000065978|ENSG00000065978	ENST00000321358;ENST00000318612|ENST00000436427	T|.	0.46451|.	0.87|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78039|0.78039	0.4221|0.4221	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.74348|.	0.983|.	T|T	0.78760|0.78760	-0.2078|-0.2078	10|5	0.72032|.	D|.	0.01|.	-3.9768|-3.9768	17.0189|17.0189	0.86428|0.86428	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	90|.	P67809|.	YBOX1_HUMAN|.	V|S	90;86|140	ENSP00000361626:A90V|.	ENSP00000361621:A86V|.	A|P	+|+	2|1	0|0	YBX1|YBX1	42934461|42934461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.291000|7.291000	0.78721|0.78721	2.678000|2.678000	0.91216|0.91216	0.557000|0.557000	0.71058|0.71058	GCC|CCA	YBX1	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	ENSG00000065978		0.363	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX1	HGNC	protein_coding	OTTHUMT00000019786.2	253	0.00	0	C	NM_004559		43161874	43161874	+1	no_errors	ENST00000321358	ensembl	human	known	69_37n	missense	139	38.22	86	SNP	1.000	T
YBX1	4904	genome.wustl.edu	37	1	43166674	43166674	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:43166674C>T	ENST00000321358.7	+	7	1102	c.963C>T	c.(961-963)ggC>ggT	p.G321G		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	321					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGAGCAGGGCGGGGCTGAGT	0.547																																						dbGAP											0													38.0	39.0	38.0					1																	43166674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.963C>T	1.37:g.43166674C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.A371V	ENST00000321358.7	37	c.1112	CCDS470.1	1	.	.	.	.	.	.	.	.	.	.	C	9.026	0.986190	0.18889	.	.	ENSG00000065978	ENST00000436427	.	.	.	5.39	4.47	0.54385	.	.	.	.	.	T	0.63803	0.2542	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61710	-0.7007	4	.	.	.	-0.329	12.3783	0.55293	0.0:0.9152:0.0:0.0848	.	.	.	.	V	371	.	.	A	+	2	0	YBX1	42939261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.403000	0.52615	2.505000	0.84491	0.557000	0.71058	GCG	YBX1	-	NULL	ENSG00000065978		0.547	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX1	HGNC	protein_coding	OTTHUMT00000019786.2	228	0.00	0	C	NM_004559		43166674	43166674	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000436427	ensembl	human	known	69_37n	missense	138	42.74	106	SNP	1.000	T
YIPF2	78992	genome.wustl.edu	37	19	11034830	11034830	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:11034830C>T	ENST00000586748.1	-	6	578	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	YIPF2_ENST00000590329.1_Intron|YIPF2_ENST00000253031.2_Missense_Mutation_p.A136T			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	136						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCAGTGACGGCCAGGACAAAG	0.647																																						dbGAP											0													45.0	43.0	44.0					19																	11034830		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.406G>A	19.37:g.11034830C>T	ENSP00000466055:p.Ala136Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Yip1	p.A136T	ENST00000586748.1	37	c.406	CCDS12251.1	19	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702447	0.48307	.	.	ENSG00000130733	ENST00000253031	T	0.46451	0.87	5.04	5.04	0.67666	Yip1 domain (1);	0.109452	0.64402	D	0.000008	T	0.46151	0.1378	L	0.54908	1.71	0.80722	D	1	D	0.52996	0.957	P	0.50490	0.642	T	0.39603	-0.9606	10	0.42905	T	0.14	-20.1463	10.7755	0.46348	0.0:0.9111:0.0:0.0889	.	136	Q9BWQ6	YIPF2_HUMAN	T	136	ENSP00000253031:A136T	ENSP00000253031:A136T	A	-	1	0	YIPF2	10895830	1.000000	0.71417	0.340000	0.25575	0.078000	0.17371	4.253000	0.58791	2.342000	0.79632	0.561000	0.74099	GCC	YIPF2	-	pfam_Yip1	ENSG00000130733		0.647	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	17	0.00	0	C	NM_024029		11034830	11034830	-1	no_errors	ENST00000253031	ensembl	human	known	69_37n	missense	16	25.00	6	SNP	0.953	T
YLPM1	56252	genome.wustl.edu	37	14	75230947	75230947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr14:75230947delC	ENST00000552421.1	+	1	879	c.755delC	c.(754-756)gccfs	p.A252fs	YLPM1_ENST00000325680.7_Frame_Shift_Del_p.A252fs|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.A252fs			P49750	YLPM1_HUMAN	YLP motif containing 1	252					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCGTCCGCCCCCCCTGGA	0.577																																						dbGAP											0													65.0	69.0	67.0					14																	75230947		1886	4111	5997	-	-	-	SO:0001589	frameshift_variant	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.755delC	14.37:g.75230947delC	ENSP00000447921:p.Ala252fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	superfamily_FH2_actin-bd	p.P254fs	ENST00000552421.1	37	c.755		14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.577	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	70	0.00	0	C	NM_019589		75230947	75230947	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	frame_shift_del	47	34.21	26	DEL	0.006	-
ZBED3-AS1	728723	genome.wustl.edu	37	5	76442598	76442598	+	RNA	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:76442598G>A	ENST00000508401.1	+	0	200				ZBED3-AS1_ENST00000513591.1_RNA|ZBED3-AS1_ENST00000514114.1_RNA|ZBED3-AS1_ENST00000503969.1_RNA|ZBED3-AS1_ENST00000512001.1_RNA|ZBED3-AS1_ENST00000515419.1_RNA|ZBED3-AS1_ENST00000513406.1_RNA|ZBED3-AS1_ENST00000515356.2_RNA|ZBED3-AS1_ENST00000511547.1_RNA					ZBED3 antisense RNA 1																		AACAAGGCTCGTTATGAAAGA	0.438																																						dbGAP											0																																										-	-	-			0					5q13.3	2012-10-12	2012-08-15		ENSG00000250802	ENSG00000250802		"""Long non-coding RNAs"""	44188	non-coding RNA	RNA, long non-coding			"""ZBED3 antisense RNA 1 (non-protein coding)"""				Standard	NR_024398		Approved		uc003kez.3		OTTHUMG00000162473		5.37:g.76442598G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000508401.1	37	NULL		5																																																																																			ZBED3-AS1	-	-	ENSG00000250802		0.438	ZBED3-AS1-016	KNOWN	basic|exp_conf	antisense	ZBED3-AS1	HGNC	antisense	OTTHUMT00000369077.2	121	0.00	0	G	NR_024398		76442598	76442598	+1	no_errors	ENST00000515356	ensembl	human	known	69_37n	rna	50	50.00	50	SNP	1.000	A
ZBED4	9889	genome.wustl.edu	37	22	50279757	50279757	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:50279757C>T	ENST00000216268.5	+	2	2924	c.2447C>T	c.(2446-2448)aCg>aTg	p.T816M		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	816						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ATCGGGAAGACGCTGAACGAG	0.612																																						dbGAP											0													39.0	39.0	39.0					22																	50279757		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2447C>T	22.37:g.50279757C>T	ENSP00000216268:p.Thr816Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.T816M	ENST00000216268.5	37	c.2447	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	C	8.094	0.775060	0.16051	.	.	ENSG00000100426	ENST00000216268	T	0.22336	1.96	5.57	3.47	0.39725	Ribonuclease H-like (1);	0.175161	0.49305	N	0.000143	T	0.13670	0.0331	L	0.27053	0.805	0.37470	D	0.915558	B	0.30605	0.287	B	0.21917	0.037	T	0.10776	-1.0615	10	0.39692	T	0.17	-13.1026	11.691	0.51516	0.0:0.867:0.0:0.133	.	816	O75132	ZBED4_HUMAN	M	816	ENSP00000216268:T816M	ENSP00000216268:T816M	T	+	2	0	ZBED4	48665761	0.990000	0.36364	0.704000	0.30370	0.140000	0.21249	2.819000	0.48049	0.684000	0.31448	0.655000	0.94253	ACG	ZBED4	-	superfamily_RNaseH-like_dom	ENSG00000100426		0.612	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	9	0.00	0	C	NM_014838		50279757	50279757	+1	no_errors	ENST00000216268	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.978	T
ZBTB4	57659	genome.wustl.edu	37	17	7366057	7366057	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:7366057G>A	ENST00000311403.4	-	4	2583	c.2244C>T	c.(2242-2244)caC>caT	p.H748H	ZBTB4_ENST00000380599.4_Silent_p.H748H	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	748					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGCCCCCACCGTGGGCCTCTT	0.706																																						dbGAP											0													36.0	42.0	40.0					17																	7366057		2067	4131	6198	-	-	-	SO:0001819	synonymous_variant	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2244C>T	17.37:g.7366057G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H748	ENST00000311403.4	37	c.2244	CCDS11107.1	17																																																																																			ZBTB4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174282		0.706	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	33	0.00	0	G	NM_020899		7366057	7366057	-1	no_errors	ENST00000311403	ensembl	human	known	69_37n	silent	32	30.43	14	SNP	0.847	A
ZBTB49	166793	genome.wustl.edu	37	4	4304255	4304255	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:4304255C>A	ENST00000337872.4	+	3	813	c.692C>A	c.(691-693)cCc>cAc	p.P231H	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.P231H	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GCAGCTGGTCCCAGTCAGGAG	0.473																																						dbGAP											0													82.0	78.0	79.0					4																	4304255		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.692C>A	4.37:g.4304255C>A	ENSP00000338807:p.Pro231His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P231H	ENST00000337872.4	37	c.692	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483495	0.84854	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	T;T	0.14640	2.49;2.84	5.42	5.42	0.78866	.	0.107964	0.42053	D	0.000773	T	0.28300	0.0699	M	0.64997	1.995	0.80722	D	1	D	0.57899	0.981	P	0.52514	0.701	T	0.00710	-1.1599	10	0.72032	D	0.01	.	17.7595	0.88460	0.0:1.0:0.0:0.0	.	231	Q6ZSB9	ZBT49_HUMAN	H	231	ENSP00000348091:P231H;ENSP00000338807:P231H	ENSP00000338807:P231H	P	+	2	0	ZBTB49	4355156	0.976000	0.34144	0.359000	0.25824	0.468000	0.32798	3.587000	0.53957	2.709000	0.92574	0.591000	0.81541	CCC	ZBTB49	-	NULL	ENSG00000168826		0.473	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	251	0.00	0	C	NM_145291		4304255	4304255	+1	no_errors	ENST00000337872	ensembl	human	known	69_37n	missense	136	45.38	113	SNP	0.585	A
ZBTB5	9925	genome.wustl.edu	37	9	37441224	37441225	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:37441224_37441225delCT	ENST00000307750.4	-	2	1512_1513	c.1324_1325delAG	c.(1324-1326)agtfs	p.S442fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GGGGGCCTCACTCTCCAGCCTG	0.48																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1324_1325delAG	9.37:g.37441226_37441227delCT	ENSP00000307604:p.Ser442fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S442fs	ENST00000307750.4	37	c.1325_1324	CCDS6610.1	9																																																																																			ZBTB5	-	NULL	ENSG00000168795		0.480	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	62	0.00	0	CT	NM_014872		37441224	37441225	-1	no_errors	ENST00000307750	ensembl	human	known	69_37n	frame_shift_del	51	34.62	27	DEL	0.214:0.280	-
ZCCHC6	79670	genome.wustl.edu	37	9	88937823	88937823	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:88937823delA	ENST00000375963.3	-	13	3014	c.2842delT	c.(2842-2844)tatfs	p.Y948fs	ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.Y948fs|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.Y825fs|ZCCHC6_ENST00000277141.6_Frame_Shift_Del_p.Y237fs	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	948					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTGAATTCATAAAAAAAATCA	0.333																																						dbGAP											0													51.0	55.0	53.0					9																	88937823		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2842delT	9.37:g.88937823delA	ENSP00000365130:p.Tyr948fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Y948fs	ENST00000375963.3	37	c.2842	CCDS35057.1	9																																																																																			ZCCHC6	-	NULL	ENSG00000083223		0.333	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	136	0.00	0	A	NM_024617		88937823	88937823	-1	no_errors	ENST00000375963	ensembl	human	known	69_37n	frame_shift_del	99	30.34	44	DEL	1.000	-
ZFC3H1	196441	genome.wustl.edu	37	12	72013168	72013170	+	In_Frame_Del	DEL	GAA	GAA	-	rs370389675		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:72013168_72013170delGAA	ENST00000378743.3	-	27	5427_5429	c.5069_5071delTTC	c.(5068-5073)cttcca>cca	p.L1690del		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1690					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCAAAAATGGAAGAAGATTATC	0.345																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5069_5071delTTC	12.37:g.72013171_72013173delGAA	ENSP00000368017:p.Leu1690del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.L1690in_frame_del	ENST00000378743.3	37	c.5071_5069	CCDS41813.1	12																																																																																			ZFC3H1	-	NULL	ENSG00000133858		0.345	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	97	0.00	0	GAA	NM_144982		72013168	72013170	-1	no_errors	ENST00000378743	ensembl	human	known	69_37n	in_frame_del	70	37.17	42	DEL	1.000:1.000:1.000	-
ZFHX4	79776	genome.wustl.edu	37	8	77616607	77616607	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:77616607A>G	ENST00000521891.2	+	2	732	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Y95C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Y95C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Y95C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTACAGAAATACATGGAACAC	0.498										HNSCC(33;0.089)																												dbGAP											0													188.0	184.0	185.0					8																	77616607		2063	4193	6256	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.284A>G	8.37:g.77616607A>G	ENSP00000430497:p.Tyr95Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Y95C	ENST00000521891.2	37	c.284	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259637	0.59321	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);	0.000000	0.40469	U	0.001084	T	0.43919	0.1269	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.97;0.987;0.987;0.999	T	0.44221	-0.9342	10	0.87932	D	0	.	15.6454	0.77046	1.0:0.0:0.0:0.0	.	95;95;95;95	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	C	95	ENSP00000430497:Y95C;ENSP00000399605:Y95C;ENSP00000050961:Y95C;ENSP00000428525:Y95C;ENSP00000429495:Y95C;ENSP00000427775:Y95C;ENSP00000427739:Y95C;ENSP00000430848:Y95C	ENSP00000050961:Y95C	Y	+	2	0	ZFHX4	77779162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.353000	0.79414	2.279000	0.76181	0.533000	0.62120	TAC	ZFHX4	-	smart_Znf_C2H2-like	ENSG00000091656		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	376	0.00	0	A	NM_024721		77616607	77616607	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	191	45.58	160	SNP	1.000	G
ZFHX4	79776	genome.wustl.edu	37	8	77775660	77775660	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:77775660A>G	ENST00000521891.2	+	11	10158	c.9710A>G	c.(9709-9711)cAt>cGt	p.H3237R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H3188R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H3192R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H3211R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGTGAAACACATGTCGATCCT	0.448										HNSCC(33;0.089)																												dbGAP											0													162.0	155.0	157.0					8																	77775660		1894	4121	6015	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9710A>G	8.37:g.77775660A>G	ENSP00000430497:p.His3237Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.H3237R	ENST00000521891.2	37	c.9710	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	0.866	-0.733787	0.03111	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47528	0.84;0.89;0.86;0.85	4.71	3.53	0.40419	.	0.156343	0.29087	U	0.013200	T	0.34716	0.0907	L	0.36672	1.1	0.09310	N	1	B	0.23442	0.085	B	0.21917	0.037	T	0.16630	-1.0396	10	0.19590	T	0.45	.	10.8125	0.46555	0.6961:0.3039:0.0:0.0	.	3192	Q86UP3-4	.	R	3237;3221;3192;3188;3211	ENSP00000430497:H3237R;ENSP00000399605:H3192R;ENSP00000050961:H3188R;ENSP00000430848:H3211R	ENSP00000050961:H3188R	H	+	2	0	ZFHX4	77938215	0.005000	0.15991	0.609000	0.28983	0.731000	0.41821	2.193000	0.42658	0.916000	0.36871	0.459000	0.35465	CAT	ZFHX4	-	NULL	ENSG00000091656		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	373	0.00	0	A	NM_024721		77775660	77775660	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	240	37.82	146	SNP	0.005	G
ZFP1	162239	genome.wustl.edu	37	16	75204022	75204022	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:75204022G>A	ENST00000393430.2	+	4	1138	c.1014G>A	c.(1012-1014)caG>caA	p.Q338Q	ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.Q305Q|ZFP1_ENST00000570010.1_Silent_p.Q338Q			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	338					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AGAACTCACAGCTCATCATAC	0.418																																					NSCLC(187;1429 2122 10143 20357 42217)	dbGAP											0													80.0	76.0	77.0					16																	75204022		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.1014G>A	16.37:g.75204022G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q338	ENST00000393430.2	37	c.1014	CCDS10914.2	16																																																																																			ZFP1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184517		0.418	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP1	HGNC	protein_coding	OTTHUMT00000269013.2	136	0.00	0	G	NM_153688		75204022	75204022	+1	no_errors	ENST00000393430	ensembl	human	known	69_37n	silent	19	73.24	52	SNP	0.048	A
ZFP91	80829	genome.wustl.edu	37	11	58381720	58381720	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:58381720C>T	ENST00000316059.6	+	9	1177	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	AP001350.1_ENST00000601906.1_5'Flank|ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.H336Y	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	336					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TAAATACCAGCATTTGCTGAA	0.408																																						dbGAP											0													85.0	79.0	81.0					11																	58381720		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1006C>T	11.37:g.58381720C>T	ENSP00000339030:p.His336Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H336Y	ENST00000316059.6	37	c.1006	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893244	0.91889	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.19938	2.11	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.134190	0.48286	D	0.000196	T	0.44953	0.1318	M	0.72894	2.215	0.80722	D	1	D;D	0.62365	0.991;0.985	P;P	0.59056	0.851;0.714	T	0.29549	-1.0008	10	0.87932	D	0	-14.3539	19.2039	0.93722	0.0:1.0:0.0:0.0	.	336;336	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Y	336	ENSP00000339030:H336Y	ENSP00000374569:H336Y	H	+	1	0	ZFP91	58138296	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	CAT	ZFP91	-	smart_Znf_C2H2-like	ENSG00000186660		0.408	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	194	0.00	0	C	NM_053023		58381720	58381720	+1	no_errors	ENST00000316059	ensembl	human	known	69_37n	missense	105	37.50	63	SNP	1.000	T
ZFPL1	7542	genome.wustl.edu	37	11	64854823	64854823	+	Missense_Mutation	SNP	C	C	T	rs554993008		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr11:64854823C>T	ENST00000294258.3	+	7	816	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	222					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GGATGATGACCGGACACCAGG	0.602																																						dbGAP											0													94.0	97.0	96.0					11																	64854823		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.664C>T	11.37:g.64854823C>T	ENSP00000294258:p.Arg222Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.R222W	ENST00000294258.3	37	c.664	CCDS8092.1	11	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476921	0.84640	.	.	ENSG00000162300	ENST00000294258	T	0.48201	0.82	4.56	4.56	0.56223	.	0.190447	0.45361	D	0.000373	T	0.45074	0.1324	L	0.46157	1.445	0.80722	D	1	D	0.60160	0.987	B	0.43783	0.431	T	0.52873	-0.8517	10	0.72032	D	0.01	-9.2006	15.2787	0.73764	0.0:1.0:0.0:0.0	.	222	O95159	ZFPL1_HUMAN	W	222	ENSP00000294258:R222W	ENSP00000294258:R222W	R	+	1	2	ZFPL1	64611399	0.211000	0.23529	0.228000	0.23943	0.900000	0.52787	2.754000	0.47532	2.537000	0.85549	0.650000	0.86243	CGG	ZFPL1	-	NULL	ENSG00000162300		0.602	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	51	0.00	0	C	NM_006782		64854823	64854823	+1	no_errors	ENST00000294258	ensembl	human	known	69_37n	missense	46	31.34	21	SNP	0.564	T
ZIM3	114026	genome.wustl.edu	37	19	57648334	57648334	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:57648334C>T	ENST00000269834.1	-	4	533	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|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)	p.G50R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGTTTCCCCTTGTCCTGTG	0.502																																						dbGAP											1	Substitution - Missense(1)	lung(1)											245.0	171.0	196.0					19																	57648334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.148G>A	19.37:g.57648334C>T	ENSP00000269834:p.Gly50Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G50R	ENST00000269834.1	37	c.148	CCDS33125.1	19	.	.	.	.	.	.	.	.	.	.	c	0.041	-1.283357	0.01398	.	.	ENSG00000141946	ENST00000269834	T	0.00784	5.7	1.52	-0.928	0.10448	Krueppel-associated box (3);	.	.	.	.	T	0.00724	0.0024	L	0.47190	1.495	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46884	-0.9159	9	0.16420	T	0.52	.	2.8425	0.05534	0.0:0.4968:0.3002:0.203	.	50	Q96PE6	ZIM3_HUMAN	R	50	ENSP00000269834:G50R	ENSP00000269834:G50R	G	-	1	0	ZIM3	62340146	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	-0.052000	0.11865	-0.165000	0.10908	-0.642000	0.03964	GGG	ZIM3	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000141946		0.502	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM3	HGNC	protein_coding	OTTHUMT00000465078.1	116	0.00	0	C			57648334	57648334	-1	no_errors	ENST00000269834	ensembl	human	known	69_37n	missense	103	37.58	62	SNP	0.001	T
ZKSCAN5	23660	genome.wustl.edu	37	7	99110130	99110130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:99110130C>T	ENST00000394170.2	+	3	720	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.Q157*|ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.Q157*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAGCAGTGCAGGAGTCCTG	0.562																																						dbGAP											0													196.0	166.0	176.0					7																	99110130		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.469C>T	7.37:g.99110130C>T	ENSP00000377725:p.Gln157*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D280|D6W5S9	Nonsense_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.Q157*	ENST00000394170.2	37	c.469	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	C	43	10.331691	0.99384	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	.	.	.	5.71	5.71	0.89125	.	0.133166	0.34700	N	0.003756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	15.798	0.78428	0.0:1.0:0.0:0.0	.	.	.	.	X	157	.	ENSP00000322872:Q157X	Q	+	1	0	ZKSCAN5	98948066	0.984000	0.35163	0.997000	0.53966	0.837000	0.47467	2.268000	0.43338	2.881000	0.98747	0.650000	0.86243	CAG	ZKSCAN5	-	NULL	ENSG00000196652		0.562	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	122	0.00	0	C	NM_014569		99110130	99110130	+1	no_errors	ENST00000326775	ensembl	human	known	69_37n	nonsense	76	40.16	51	SNP	0.995	T
ZMPSTE24	10269	genome.wustl.edu	37	1	40756543	40756543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:40756543delT	ENST00000372759.3	+	9	1242	c.1077delT	c.(1075-1077)tgtfs	p.C359fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	359					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CTTTCCTGTGTTTTTTTTTAT	0.333																																						dbGAP											0													140.0	134.0	136.0					1																	40756543		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1077delT	1.37:g.40756543delT	ENSP00000361845:p.Cys359fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Frame_Shift_Del	DEL	pfam_Peptidase_M48	p.L362fs	ENST00000372759.3	37	c.1077	CCDS449.1	1																																																																																			ZMPSTE24	-	pfam_Peptidase_M48	ENSG00000084073		0.333	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMPSTE24	HGNC	protein_coding	OTTHUMT00000015766.1	73	0.00	0	T			40756543	40756543	+1	no_errors	ENST00000372759	ensembl	human	known	69_37n	frame_shift_del	71	33.93	38	DEL	1.000	-
ZNF10	7556	genome.wustl.edu	37	12	133733295	133733295	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr12:133733295C>A	ENST00000248211.6	+	5	1685	c.1463C>A	c.(1462-1464)cCa>cAa	p.P488Q	CTD-2140B24.4_ENST00000540096.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.P488Q|ZNF10_ENST00000402932.2_Missense_Mutation_p.P354Q|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGAGAGAAACCATATGAATGC	0.423																																						dbGAP											0													100.0	93.0	96.0					12																	133733295		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1463C>A	12.37:g.133733295C>A	ENSP00000248211:p.Pro488Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBS1|Q8TC91	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P488Q	ENST00000248211.6	37	c.1463	CCDS9283.1	12	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683164	0.68157	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.28454	1.61;1.61;1.61	3.98	3.98	0.46160	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.583249	0.14664	N	0.305777	T	0.53158	0.1779	M	0.70275	2.135	0.80722	D	1	D	0.61697	0.99	D	0.65987	0.94	T	0.53229	-0.8468	9	.	.	.	.	15.3624	0.74487	0.0:1.0:0.0:0.0	.	488	P21506	ZNF10_HUMAN	Q	488;488;354	ENSP00000248211:P488Q;ENSP00000393814:P488Q;ENSP00000384893:P354Q	.	P	+	2	0	ZNF10	132243368	0.897000	0.30589	0.225000	0.23894	0.994000	0.84299	2.188000	0.42612	2.215000	0.71742	0.655000	0.94253	CCA	ZNF10	-	pfscan_Znf_C2H2	ENSG00000256223		0.423	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	HGNC	protein_coding	OTTHUMT00000397182.1	128	0.00	0	C	NM_015394		133733295	133733295	+1	no_errors	ENST00000248211	ensembl	human	known	69_37n	missense	83	44.30	66	SNP	0.973	A
ZNF131	7690	genome.wustl.edu	37	5	43161931	43161931	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:43161931A>G	ENST00000399534.1	+	5	996	c.952A>G	c.(952-954)Agt>Ggt	p.S318G	ZNF131_ENST00000306938.4_Missense_Mutation_p.S284G|ZNF131_ENST00000509156.1_Missense_Mutation_p.S318G|ZNF131_ENST00000505606.2_Missense_Mutation_p.S284G|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.S284G			P52739	ZN131_HUMAN	zinc finger protein 131	318					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AGGTGGAGTCAGTAAGAAGCA	0.373																																						dbGAP											0													67.0	62.0	64.0					5																	43161931		1885	4113	5998	-	-	-	SO:0001583	missense	0			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.952A>G	5.37:g.43161931A>G	ENSP00000382450:p.Ser318Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL3|Q6PIF0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S318G	ENST00000399534.1	37	c.952		5	.	.	.	.	.	.	.	.	.	.	A	14.80	2.643714	0.47258	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.75050	-0.9;2.46;-0.9;2.46;2.46	5.42	5.42	0.78866	.	0.205928	0.51477	D	0.000083	T	0.58850	0.2151	N	0.21448	0.665	0.35662	D	0.812598	B;B	0.34015	0.435;0.341	B;B	0.31101	0.057;0.124	T	0.65664	-0.6113	9	.	.	.	-7.75	12.5991	0.56487	0.862:0.138:0.0:0.0	.	318;284	P52739;P52739-2	ZN131_HUMAN;.	G	318;284;318;284;284	ENSP00000426504:S318G;ENSP00000305804:S284G;ENSP00000382450:S318G;ENSP00000423945:S284G;ENSP00000421246:S284G	.	S	+	1	0	ZNF131	43197688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.140000	0.58031	2.058000	0.61347	0.528000	0.53228	AGT	ZNF131	-	NULL	ENSG00000172262		0.373	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	85	0.00	0	A	NM_003432		43161931	43161931	+1	no_errors	ENST00000399534	ensembl	human	known	69_37n	missense	53	38.37	33	SNP	1.000	G
ZNF225	7768	genome.wustl.edu	37	19	44635764	44635764	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:44635764A>G	ENST00000262894.6	+	5	1277	c.997A>G	c.(997-999)Agt>Ggt	p.S333G	ZNF225_ENST00000590612.1_Missense_Mutation_p.S333G|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGCACTTAATAGTCATCGCAT	0.403																																						dbGAP											0													169.0	175.0	173.0					19																	44635764		2198	4297	6495	-	-	-	SO:0001583	missense	0			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.997A>G	19.37:g.44635764A>G	ENSP00000262894:p.Ser333Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S333G	ENST00000262894.6	37	c.997	CCDS46100.1	19	.	.	.	.	.	.	.	.	.	.	A	4.745	0.138529	0.09083	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.18657	2.2	2.4	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10208	0.0250	N	0.10733	0.035	0.09310	N	1	B	0.14805	0.011	B	0.24006	0.05	T	0.40136	-0.9579	9	0.23302	T	0.38	.	7.4713	0.27351	0.7792:0.2208:0.0:0.0	.	333	Q9UK10	ZN225_HUMAN	G	333;297	ENSP00000262894:S333G	ENSP00000262894:S333G	S	+	1	0	ZNF225	49327604	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-1.534000	0.02212	0.148000	0.19059	0.379000	0.24179	AGT	ZNF225	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256294		0.403	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	HGNC	protein_coding	OTTHUMT00000460581.1	505	0.00	0	A			44635764	44635764	+1	no_errors	ENST00000262894	ensembl	human	known	69_37n	missense	254	38.65	160	SNP	0.000	G
ZNF236	7776	genome.wustl.edu	37	18	74607032	74607032	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:74607032G>A	ENST00000253159.8	+	10	1673	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	ZNF236_ENST00000320610.9_Missense_Mutation_p.R494H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	492					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAGGAGTTCCGCAAGCCCAGC	0.657																																						dbGAP											0													71.0	85.0	80.0					18																	74607032		2196	4294	6490	-	-	-	SO:0001583	missense	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1475G>A	18.37:g.74607032G>A	ENSP00000253159:p.Arg492His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R492H	ENST00000253159.8	37	c.1475	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.099089	0.94197	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.29142	1.58;1.58	5.48	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149775	0.42964	D	0.000639	T	0.21468	0.0517	L	0.47716	1.5	0.34258	D	0.679614	P	0.47677	0.899	B	0.38327	0.271	T	0.40794	-0.9544	10	0.54805	T	0.06	.	3.4295	0.07422	0.5638:0.0:0.4362:0.0	.	492	Q9UL36	ZN236_HUMAN	H	492	ENSP00000253159:R492H;ENSP00000444524:R492H	ENSP00000253159:R492H	R	+	2	0	ZNF236	72736020	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.274000	0.78538	1.175000	0.42826	0.563000	0.77884	CGC	ZNF236	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130856		0.657	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	56	0.00	0	G			74607032	74607032	+1	no_errors	ENST00000253159	ensembl	human	known	69_37n	missense	15	50.00	15	SNP	1.000	A
ZNF236	7776	genome.wustl.edu	37	18	74680225	74680225	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr18:74680225G>A	ENST00000253159.8	+	31	5666	c.5468G>A	c.(5467-5469)cGg>cAg	p.R1823Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1825Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1823					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGCTGAGCCGGACCCTCCAC	0.597																																						dbGAP											0													70.0	80.0	77.0					18																	74680225		2006	4192	6198	-	-	-	SO:0001583	missense	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.5468G>A	18.37:g.74680225G>A	ENSP00000253159:p.Arg1823Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1823Q	ENST00000253159.8	37	c.5468	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114517	0.37339	.	.	ENSG00000130856	ENST00000253159	T	0.10288	2.89	5.06	2.1	0.27182	.	0.304042	0.27249	N	0.020225	T	0.05868	0.0153	N	0.19112	0.55	0.09310	N	0.999998	B	0.10296	0.003	B	0.04013	0.001	T	0.44050	-0.9353	10	0.13108	T	0.6	.	8.2871	0.31935	0.3291:0.0:0.6709:0.0	.	1823	Q9UL36	ZN236_HUMAN	Q	1823	ENSP00000253159:R1823Q	ENSP00000253159:R1823Q	R	+	2	0	ZNF236	72809213	0.882000	0.30256	0.562000	0.28370	0.941000	0.58515	1.128000	0.31369	0.190000	0.20209	0.557000	0.71058	CGG	ZNF236	-	NULL	ENSG00000130856		0.597	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	114	0.00	0	G			74680225	74680225	+1	no_errors	ENST00000253159	ensembl	human	known	69_37n	missense	17	71.67	43	SNP	0.089	A
ZNF251	90987	genome.wustl.edu	37	8	145947363	145947363	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr8:145947363G>A	ENST00000292562.7	-	5	1957	c.1682C>T	c.(1681-1683)aCt>aTt	p.T561I	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	561					regulation of transcription, DNA-templated (GO:0006355)|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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TTTCTCACCAGTGTGAACTGT	0.493																																						dbGAP											0													82.0	84.0	83.0					8																	145947363		2020	4212	6232	-	-	-	SO:0001583	missense	0			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1682C>T	8.37:g.145947363G>A	ENSP00000292562:p.Thr561Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T561I	ENST00000292562.7	37	c.1682	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020904	0.54576	.	.	ENSG00000198169	ENST00000292562	T	0.07444	3.19	1.75	-0.477	0.12097	.	.	.	.	.	T	0.08044	0.0201	L	0.41236	1.265	0.23492	N	0.99756	P	0.48162	0.906	B	0.44163	0.443	T	0.26916	-1.0089	9	0.72032	D	0.01	-1.5418	5.7886	0.18347	0.0:0.4097:0.3994:0.1909	.	561	Q9BRH9	ZN251_HUMAN	I	561	ENSP00000292562:T561I	ENSP00000292562:T561I	T	-	2	0	ZNF251	145918172	0.003000	0.15002	0.014000	0.15608	0.506000	0.33950	1.176000	0.31957	-0.139000	0.11414	0.563000	0.77884	ACT	ZNF251	-	NULL	ENSG00000198169		0.493	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	198	0.00	0	G	NM_138367		145947363	145947363	-1	no_errors	ENST00000292562	ensembl	human	known	69_37n	missense	115	44.44	92	SNP	0.999	A
ZNF267	10308	genome.wustl.edu	37	16	31927621	31927622	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:31927621_31927622delGA	ENST00000300870.10	+	4	2260_2261	c.2051_2052delGA	c.(2050-2052)ggafs	p.G684fs		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	684					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGACATACTGGAGAGAGACCCT	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2051_2052delGA	16.37:g.31927627_31927628delGA	ENSP00000300870:p.Gly684fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNZ9|Q8NE41|Q9NRJ0	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R686fs	ENST00000300870.10	37	c.2051_2052	CCDS32440.1	16																																																																																			ZNF267	-	pfscan_Znf_C2H2	ENSG00000185947		0.446	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	215	0.00	0	GA	NM_003414		31927621	31927622	+1	no_errors	ENST00000300870	ensembl	human	known	69_37n	frame_shift_del	104	44.39	83	DEL	1.000:0.997	-
ZNF286A	57335	genome.wustl.edu	37	17	15620166	15620166	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:15620166T>C	ENST00000464847.2	+	5	1681	c.1128T>C	c.(1126-1128)caT>caC	p.H376H	ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.H376H|ZNF286A_ENST00000413242.2_Silent_p.H376H|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000593105.1_Silent_p.H366H|ZNF286A_ENST00000421016.1_Silent_p.H376H			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	376					regulation of transcription, DNA-templated (GO:0006355)|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)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAAGAACTCATACTGGAGAGA	0.368																																						dbGAP											0													23.0	20.0	21.0					17																	15620166		2201	4288	6489	-	-	-	SO:0001819	synonymous_variant	0			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1128T>C	17.37:g.15620166T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKF9|Q96JF3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H376	ENST00000464847.2	37	c.1128	CCDS11172.1	17																																																																																			AC005324.8-001	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000255104		0.368	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286A	Clone_based_vega_gene	protein_coding	OTTHUMT00000130696.4	67	0.00	0	T	NM_020652		15620166	15620166	+1	no_errors	ENST00000413242	ensembl	human	known	69_37n	silent	53	46.46	46	SNP	1.000	C
ZNF300	91975	genome.wustl.edu	37	5	150278080	150278080	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:150278080T>C	ENST00000274599.5	-	4	472	c.52A>G	c.(52-54)Acc>Gcc	p.T18A	ZNF300_ENST00000427179.1_Missense_Mutation_p.T18A|ZNF300_ENST00000446148.2_Missense_Mutation_p.T34A|ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.T18A	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTCCTGGGTGAAATCCACA	0.453																																						dbGAP											0													100.0	103.0	102.0					5																	150278080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.52A>G	5.37:g.150278080T>C	ENSP00000274599:p.Thr18Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T34A	ENST00000274599.5	37	c.100	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127204	0.56721	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000427179;ENST00000394226	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	3.26	3.26	0.37387	Krueppel-associated box (4);	.	.	.	.	T	0.27278	0.0669	H	0.98738	4.315	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.07849	-1.0751	9	0.87932	D	0	.	5.8687	0.18791	0.235:0.0:0.0:0.765	.	18	Q96RE9	ZN300_HUMAN	A	34;18;18;18	ENSP00000397178:T34A;ENSP00000274599:T18A;ENSP00000414195:T18A;ENSP00000377773:T18A	ENSP00000274599:T18A	T	-	1	0	ZNF300	150258273	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	0.941000	0.29005	1.510000	0.48803	0.383000	0.25322	ACC	ZNF300	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000145908		0.453	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		324	0.31	1	T	NM_052860		150278080	150278080	-1	no_errors	ENST00000446148	ensembl	human	known	69_37n	missense	167	39.49	109	SNP	1.000	C
ZNF300P1	134466	genome.wustl.edu	37	5	150311069	150311069	+	RNA	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr5:150311069delT	ENST00000520773.1	-	0	2252									zinc finger protein 300 pseudogene 1 (functional)																		ATTCATATGGTTTTTCCCCAG	0.403																																						dbGAP											0																																										-	-	-			0			AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150311069delT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000520773.1	37	NULL		5																																																																																			ZNF300P1	-	-	ENSG00000197083		0.403	ZNF300P1-002	KNOWN	basic	processed_transcript	ZNF300P1	HGNC	pseudogene	OTTHUMT00000374771.1	88	0.00	0	T	NR_026867		150311069	150311069	-1	no_errors	ENST00000520773	ensembl	human	known	69_37n	rna	60	30.00	27	DEL	1.000	-
ZNF318	24149	genome.wustl.edu	37	6	43323176	43323176	+	Silent	SNP	G	G	A	rs549011894		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr6:43323176G>A	ENST00000361428.2	-	4	1973	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R	ZNF318_ENST00000318149.3_Silent_p.R632R	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	632					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGAGGAACGGCGGTCAGCTG	0.527																																						dbGAP											0													141.0	123.0	129.0					6																	43323176		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1896C>T	6.37:g.43323176G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.R632	ENST00000361428.2	37	c.1896	CCDS4895.2	6																																																																																			ZNF318	-	NULL	ENSG00000171467		0.527	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	262	0.00	0	G	NM_014345		43323176	43323176	-1	no_errors	ENST00000361428	ensembl	human	known	69_37n	silent	144	41.94	104	SNP	0.822	A
ZNF330	27309	genome.wustl.edu	37	4	142143531	142143532	+	Frame_Shift_Ins	INS	-	-	A	rs148880005		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:142143531_142143532insA	ENST00000262990.4	+	2	234_235	c.6_7insA	c.(7-9)aaafs	p.K3fs	ZNF330_ENST00000421169.2_5'UTR	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	3						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.K5fs*18(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GGAAAATGCCTAAAAAAAAGAC	0.356																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.14dupA	4.37:g.142143539_142143539dupA	ENSP00000262990:p.Lys3fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA3	Frame_Shift_Ins	INS	pfam_NOA36	p.T5fs	ENST00000262990.4	37	c.6_7	CCDS3754.1	4																																																																																			ZNF330	-	pfam_NOA36	ENSG00000109445		0.356	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF330	HGNC	protein_coding	OTTHUMT00000257271.2	82	0.00	0	-	NM_014487		142143531	142143532	+1	no_errors	ENST00000262990	ensembl	human	known	69_37n	frame_shift_ins	54	30.77	24	INS	1.000:1.000	A
ZNF33A	7581	genome.wustl.edu	37	10	38344792	38344792	+	Silent	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:38344792C>A	ENST00000458705.2	+	5	1895	c.1737C>A	c.(1735-1737)ccC>ccA	p.P579P	ZNF33A_ENST00000307441.9_Silent_p.P579P|ZNF33A_ENST00000374618.3_Silent_p.P580P|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Silent_p.P586P			Q06730	ZN33A_HUMAN	zinc finger protein 33A	579					regulation of transcription, DNA-templated (GO:0006355)|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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGGAGAAACCCTACGAATGTC	0.383																																						dbGAP											0													91.0	93.0	92.0					10																	38344792		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1737C>A	10.37:g.38344792C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P586	ENST00000458705.2	37	c.1758	CCDS31182.1	10																																																																																			ZNF33A	-	pfscan_Znf_C2H2	ENSG00000189180		0.383	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	350	0.28	1	C	NM_006974		38344792	38344792	+1	no_errors	ENST00000432900	ensembl	human	known	69_37n	silent	231	40.46	157	SNP	0.751	A
ZNF365	22891	genome.wustl.edu	37	10	64159513	64159513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:64159513delA	ENST00000395254.3	+	5	1469	c.1189delA	c.(1189-1191)aaafs	p.K399fs	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAAATGGCTAAAAAAAAGCC	0.527																																						dbGAP											0													45.0	43.0	44.0					10																	64159513		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1189delA	10.37:g.64159513delA	ENSP00000378674:p.Lys399fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.K399fs	ENST00000395254.3	37	c.1189	CCDS31209.1	10																																																																																			ZNF365	-	NULL	ENSG00000138311		0.527	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048238.2	137	0.00	0	A	NM_014951		64159513	64159513	+1	no_errors	ENST00000395254	ensembl	human	known	69_37n	frame_shift_del	79	33.61	40	DEL	1.000	-
ZNF365	22891	genome.wustl.edu	37	10	64219525	64219525	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:64219525G>A	ENST00000410046.3	+	4	1230	c.950G>A	c.(949-951)cGc>cAc	p.R317H	ZNF365_ENST00000395255.3_Missense_Mutation_p.R317H	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCGAAGCTCGCCTGGTGTGC	0.512																																						dbGAP											0													55.0	45.0	48.0					10																	64219525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000410046.3:c.950G>A	10.37:g.64219525G>A	ENSP00000387091:p.Arg317His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R317H	ENST00000410046.3	37	c.950	CCDS7264.1	10	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516281	0.27123	.	.	ENSG00000138311	ENST00000395255;ENST00000410046	T;T	0.29397	1.57;1.57	3.88	-0.425	0.12317	.	.	.	.	.	T	0.20007	0.0481	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.25745	-1.0123	8	0.72032	D	0.01	.	4.6197	0.12444	0.2061:0.3482:0.4457:0.0	.	317;317	Q70YC5-3;Q70YC5-2	.;.	H	317	ENSP00000378675:R317H;ENSP00000387091:R317H	ENSP00000378675:R317H	R	+	2	0	ZNF365	63889531	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.257000	0.08745	-0.073000	0.12842	0.655000	0.94253	CGC	ZNF365	-	NULL	ENSG00000138311		0.512	ZNF365-003	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277038.1	10	0.00	0	G	NM_014951		64219525	64219525	+1	no_errors	ENST00000410046	ensembl	human	known	69_37n	missense	3	70.00	7	SNP	0.001	A
ZNF367	195828	genome.wustl.edu	37	9	99157205	99157205	+	Silent	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:99157205A>G	ENST00000375256.4	-	3	887	c.591T>C	c.(589-591)tgT>tgC	p.C197C		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	197					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				CTGGATAGTCACACAGATAGG	0.433																																						dbGAP											0													92.0	88.0	89.0					9																	99157205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.591T>C	9.37:g.99157205A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6Q7C8	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C197	ENST00000375256.4	37	c.591	CCDS6718.1	9																																																																																			ZNF367	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000165244		0.433	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF367	HGNC	protein_coding	OTTHUMT00000053266.1	133	0.00	0	A			99157205	99157205	-1	no_errors	ENST00000375256	ensembl	human	known	69_37n	silent	89	51.10	93	SNP	1.000	G
ZNF414	84330	genome.wustl.edu	37	19	8577299	8577299	+	Silent	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:8577299G>A	ENST00000255616.8	-	4	603	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	ZNF414_ENST00000393927.4_Silent_p.L168L	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						TTGTAGTGCAGTTTGCTGTGA	0.597																																						dbGAP											0													197.0	166.0	177.0					19																	8577299		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.502C>T	19.37:g.8577299G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY94	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L168	ENST00000255616.8	37	c.502	CCDS12205.1	19																																																																																			ZNF414	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000133250		0.597	ZNF414-002	KNOWN	basic|CCDS	protein_coding	ZNF414	HGNC	protein_coding	OTTHUMT00000460199.2	26	0.00	0	G	NM_032370		8577299	8577299	-1	no_errors	ENST00000393927	ensembl	human	known	69_37n	silent	22	46.34	19	SNP	1.000	A
ZNF425	155054	genome.wustl.edu	37	7	148800869	148800869	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr7:148800869C>T	ENST00000378061.2	-	4	2226	c.2094G>A	c.(2092-2094)gaG>gaA	p.E698E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	698					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTTGCCACACTCGGGACACT	0.547																																						dbGAP											0													87.0	83.0	84.0					7																	148800869		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2094G>A	7.37:g.148800869C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPM1|Q08AG3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E698	ENST00000378061.2	37	c.2094	CCDS34773.1	7																																																																																			ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.547	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	139	0.00	0	C	XM_088140		148800869	148800869	-1	no_errors	ENST00000378061	ensembl	human	known	69_37n	silent	95	35.37	52	SNP	0.117	T
ZNF431	170959	genome.wustl.edu	37	19	21349204	21349204	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:21349204G>A	ENST00000311048.7	+	3	307	c.163G>A	c.(163-165)Gct>Act	p.A55T	ZNF431_ENST00000599296.1_Missense_Mutation_p.A55T|ZNF431_ENST00000600692.1_Missense_Mutation_p.A55T|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						CCTGAACCCTGCTCAGCAGAA	0.383																																						dbGAP											0													99.0	108.0	105.0					19																	21349204		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.163G>A	19.37:g.21349204G>A	ENSP00000308578:p.Ala55Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAK7|Q8IWC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A55T	ENST00000311048.7	37	c.163	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	7.655	0.683782	0.14907	.	.	ENSG00000196705	ENST00000311048	T	0.02236	4.38	0.659	0.659	0.17861	Krueppel-associated box (4);	.	.	.	.	T	0.05914	0.0154	M	0.64170	1.965	0.09310	N	1	P	0.45902	0.868	P	0.52758	0.708	T	0.28522	-1.0041	8	0.54805	T	0.06	.	.	.	.	.	55	Q8TF32	ZN431_HUMAN	T	55	ENSP00000308578:A55T	ENSP00000308578:A55T	A	+	1	0	ZNF431	21141044	0.000000	0.05858	0.007000	0.13788	0.053000	0.15095	-0.230000	0.09083	0.608000	0.30000	0.455000	0.32223	GCT	ZNF431	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196705		0.383	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	346	0.00	0	G	XM_086098		21349204	21349204	+1	no_errors	ENST00000311048	ensembl	human	known	69_37n	missense	183	42.09	133	SNP	0.010	A
ZNF438	220929	genome.wustl.edu	37	10	31138622	31138622	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:31138622C>A	ENST00000361310.3	-	6	1041	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W	ZNF438_ENST00000413025.1_Missense_Mutation_p.G238W|ZNF438_ENST00000442986.1_Missense_Mutation_p.G238W|ZNF438_ENST00000538351.2_Missense_Mutation_p.G189W|ZNF438_ENST00000452305.1_Missense_Mutation_p.G228W|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000444692.2_Missense_Mutation_p.G228W|ZNF438_ENST00000331737.6_Missense_Mutation_p.G228W|ZNF438_ENST00000436087.2_Missense_Mutation_p.G238W			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	238					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|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)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGTGCTTTCCCTGAAAGAGCT	0.473																																						dbGAP											0													163.0	162.0	162.0					10																	31138622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.712G>T	10.37:g.31138622C>A	ENSP00000354663:p.Gly238Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G238W	ENST00000361310.3	37	c.712	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069504	0.55539	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.10288	2.89;2.9;2.9;2.9;2.9;2.89;2.89;2.9	5.63	2.74	0.32292	.	0.829307	0.11543	N	0.553594	T	0.24509	0.0594	L	0.57536	1.79	0.09310	N	1	P;D	0.71674	0.833;0.998	P;D	0.66847	0.466;0.947	T	0.08889	-1.0700	10	0.66056	D	0.02	-2.5969	6.6973	0.23205	0.0:0.6419:0.1349:0.2232	.	238;228	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	W	228;238;238;238;238;228;228;189	ENSP00000333571:G228W;ENSP00000354663:G238W;ENSP00000406934:G238W;ENSP00000412363:G238W;ENSP00000387546:G238W;ENSP00000413060:G228W;ENSP00000410898:G228W;ENSP00000445461:G189W	ENSP00000333571:G228W	G	-	1	0	ZNF438	31178628	0.000000	0.05858	0.007000	0.13788	0.021000	0.10359	0.098000	0.15189	0.308000	0.22923	0.655000	0.94253	GGG	ZNF438	-	NULL	ENSG00000183621		0.473	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	191	0.52	1	C	NM_182755		31138622	31138622	-1	no_errors	ENST00000361310	ensembl	human	known	69_37n	missense	93	44.31	74	SNP	0.071	A
ZNF45	7596	genome.wustl.edu	37	19	44418262	44418262	+	Missense_Mutation	SNP	T	T	G	rs144473611		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:44418262T>G	ENST00000269973.5	-	10	2416	c.1326A>C	c.(1324-1326)aaA>aaC	p.K442N	ZNF45_ENST00000589703.1_Missense_Mutation_p.K442N|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	442					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATTTATAGGGTTTTTCCCCTG	0.468																																						dbGAP											0													64.0	65.0	65.0					19																	44418262		2203	4300	6503	-	-	-	SO:0001583	missense	0			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1326A>C	19.37:g.44418262T>G	ENSP00000269973:p.Lys442Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P17016|P78472|Q9P1U9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K442N	ENST00000269973.5	37	c.1326	CCDS12632.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.60|16.60	3.169470|3.169470	0.57584|0.57584	.|.	.|.	ENSG00000124459|ENSG00000124459	ENST00000269973|ENST00000328762	T|.	0.26067|.	1.76|.	3.62|3.62	-1.21|-1.21	0.09524|0.09524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.38548|.	N|.	0.001657|.	T|T	0.53158|0.53158	0.1779|0.1779	L|L	0.55990|0.55990	1.75|1.75	0.34872|0.34872	D|D	0.743728|0.743728	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.61322|0.61322	-0.7086|-0.7086	10|6	0.66056|0.72032	D|D	0.02|0.01	-15.4546|-15.4546	8.3348|8.3348	0.32208|0.32208	0.0:0.3771:0.0:0.6229|0.0:0.3771:0.0:0.6229	.|.	442|.	Q02386|.	ZNF45_HUMAN|.	N|T	442|442	ENSP00000269973:K442N|.	ENSP00000269973:K442N|ENSP00000367176:N442T	K|N	-|-	3|2	2|0	ZNF45|ZNF45	49110102|49110102	0.000000|0.000000	0.05858|0.05858	0.993000|0.993000	0.49108|0.49108	0.991000|0.991000	0.79684|0.79684	-0.987000|-0.987000	0.03743|0.03743	-0.473000|-0.473000	0.06871|0.06871	0.379000|0.379000	0.24179|0.24179	AAA|AAC	ZNF45	-	pfscan_Znf_C2H2	ENSG00000124459		0.468	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	243	0.41	1	T	NM_003425		44418262	44418262	-1	no_errors	ENST00000269973	ensembl	human	known	69_37n	missense	116	43.41	89	SNP	0.997	G
ZNF485	220992	genome.wustl.edu	37	10	44111877	44111877	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr10:44111877A>G	ENST00000361807.3	+	5	580	c.386A>G	c.(385-387)aAc>aGc	p.N129S	ZNF485_ENST00000374437.2_Missense_Mutation_p.N38S|ZNF485_ENST00000374435.3_Missense_Mutation_p.N129S	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						ACAGAGAAGAACTATAAGTGC	0.433																																						dbGAP											0													91.0	93.0	92.0					10																	44111877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.386A>G	10.37:g.44111877A>G	ENSP00000354694:p.Asn129Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSE6|Q96CL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N129S	ENST00000361807.3	37	c.386	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	A	3.755	-0.050882	0.07407	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07021	3.23;3.23;3.23	2.54	-2.36	0.06663	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00661	-1.28	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.41858	-0.9485	9	0.36615	T	0.2	.	0.3062	0.00280	0.2896:0.2032:0.2874:0.2198	.	129	Q8NCK3	ZN485_HUMAN	S	129;38;129	ENSP00000354694:N129S;ENSP00000363560:N38S;ENSP00000363558:N129S	ENSP00000354694:N129S	N	+	2	0	ZNF485	43431883	0.002000	0.14202	0.007000	0.13788	0.219000	0.24729	0.099000	0.15210	-0.532000	0.06332	0.379000	0.24179	AAC	ZNF485	-	NULL	ENSG00000198298		0.433	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	96	0.00	0	A	NM_145312		44111877	44111877	+1	no_errors	ENST00000361807	ensembl	human	known	69_37n	missense	45	47.06	40	SNP	0.061	G
ZNF567	163081	genome.wustl.edu	37	19	37209935	37209936	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:37209935_37209936insA	ENST00000536254.2	+	6	531_532	c.309_310insA	c.(310-312)aaafs	p.K104fs	ZNF567_ENST00000588311.1_Frame_Shift_Ins_p.K73fs|ZNF567_ENST00000392163.2_Frame_Shift_Ins_p.K73fs|ZNF567_ENST00000585696.1_Frame_Shift_Ins_p.K73fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Frame_Shift_Ins_p.K73fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCATCAACCACAAAAAACTGGT	0.327																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.315dupA	19.37:g.37209941_37209941dupA	ENSP00000441838:p.Lys104fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX49|Q6N044	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L105fs	ENST00000536254.2	37	c.309_310		19																																																																																			ZNF567	-	NULL	ENSG00000189042		0.327	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	116	0.00	0	-	NM_152603		37209935	37209936	+1	no_errors	ENST00000536254	ensembl	human	known	69_37n	frame_shift_ins	79	28.83	32	INS	0.034:0.038	A
ZNF573	126231	genome.wustl.edu	37	19	38230318	38230318	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:38230318T>G	ENST00000590414.2	-	4	1094	c.1073A>C	c.(1072-1074)tAt>tCt	p.Y358S	ZNF573_ENST00000536220.1_Missense_Mutation_p.Y270S|ZNF573_ENST00000392138.1_Missense_Mutation_p.Y271S|ZNF573_ENST00000339503.4_Missense_Mutation_p.Y300S|ZNF573_ENST00000357309.3_Missense_Mutation_p.Y270S			Q86YE8	ZN573_HUMAN	zinc finger protein 573	358					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CTTACATTCATAGGGTTTTCC	0.363																																						dbGAP											0													69.0	71.0	71.0					19																	38230318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1073A>C	19.37:g.38230318T>G	ENSP00000465020:p.Tyr358Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y358S	ENST00000590414.2	37	c.1073	CCDS59381.1	19	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205934	0.39003	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	2.02	2.02	0.26589	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50837	0.1639	M	0.89534	3.04	0.24969	N	0.991675	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69479	0.939;0.939;0.964;0.939	T	0.34950	-0.9808	9	0.87932	D	0	.	5.0279	0.14395	0.2664:0.0:0.0:0.7335	.	271;300;338;270	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	S	271;270;270;300;270	ENSP00000375983:Y271S;ENSP00000440464:Y270S;ENSP00000349861:Y270S;ENSP00000340171:Y300S	ENSP00000340171:Y300S	Y	-	2	0	ZNF573	42922158	0.001000	0.12720	0.994000	0.49952	0.785000	0.44390	0.698000	0.25571	0.786000	0.33708	0.377000	0.23210	TAT	ZNF573	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189144		0.363	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF573	HGNC	protein_coding	OTTHUMT00000459773.2	423	0.23	1	T	NM_152360		38230318	38230318	-1	no_errors	ENST00000590414	ensembl	human	known	69_37n	missense	270	35.24	148	SNP	0.994	G
ZNF614	80110	genome.wustl.edu	37	19	52519172	52519172	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:52519172A>G	ENST00000270649.6	-	5	2223	c.1679T>C	c.(1678-1680)aTg>aCg	p.M560T	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCTTGTGTGCATTTTCTTATG	0.413																																						dbGAP											0													186.0	180.0	182.0					19																	52519172		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1679T>C	19.37:g.52519172A>G	ENSP00000270649:p.Met560Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M560T	ENST00000270649.6	37	c.1679	CCDS12847.1	19	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.985245	0.00046	.	.	ENSG00000142556	ENST00000270649	T	0.07688	3.17	3.56	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.20638	N	0.999877	P	0.44195	0.828	B	0.38500	0.275	T	0.28996	-1.0026	9	0.07644	T	0.81	.	5.8245	0.18546	0.5638:0.0:0.0:0.4362	.	560	Q8N883	ZN614_HUMAN	T	560	ENSP00000270649:M560T	ENSP00000270649:M560T	M	-	2	0	ZNF614	57210984	0.771000	0.28555	0.959000	0.39883	0.006000	0.05464	0.320000	0.19540	0.001000	0.14605	-0.490000	0.04691	ATG	ZNF614	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000142556		0.413	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF614	HGNC	protein_coding	OTTHUMT00000462407.1	258	0.38	1	A	NM_025040		52519172	52519172	-1	no_errors	ENST00000270649	ensembl	human	known	69_37n	missense	105	38.15	66	SNP	0.998	G
ZNF600	162966	genome.wustl.edu	37	19	53269304	53269304	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:53269304G>T	ENST00000338230.3	-	3	1972	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	569					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGGTGAACAAGGGATGGCTTG	0.443																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	dbGAP											0													227.0	214.0	218.0					19																	53269304		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1705C>A	19.37:g.53269304G>T	ENSP00000344791:p.Leu569Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L569I	ENST00000338230.3	37	c.1705	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	13.07	2.127987	0.37533	.	.	ENSG00000189190	ENST00000338230	T	0.53857	0.6	1.5	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73040	0.3536	M	0.87971	2.92	0.09310	N	1	P	0.52061	0.95	D	0.78314	0.991	T	0.60198	-0.7310	9	0.66056	D	0.02	.	9.9764	0.41786	0.0:0.0:1.0:0.0	.	569	Q6ZNG1	ZN600_HUMAN	I	569	ENSP00000344791:L569I	ENSP00000344791:L569I	L	-	1	0	ZNF600	57961116	0.001000	0.12720	0.002000	0.10522	0.017000	0.09413	0.423000	0.21313	0.835000	0.34877	0.184000	0.17185	CTT	ZNF600	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189190		0.443	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	1005	0.00	0	G	NM_198457		53269304	53269304	-1	no_errors	ENST00000338230	ensembl	human	known	69_37n	missense	538	38.89	343	SNP	0.025	T
ZNF618	114991	genome.wustl.edu	37	9	116812464	116812464	+	3'UTR	DEL	A	A	-	rs575961464		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr9:116812464delA	ENST00000374126.5	+	0	2981				ZNF618_ENST00000288466.7_3'UTR|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACTTCGGGGGAAAAAAAAAGA	0.363																																						dbGAP											0										59,35,3426		1,0,57,0,35,1667	47.0	53.0	51.0			-11.2	0.0	9		52	86,79,7649		1,0,84,0,79,3743	no	utr-3	ZNF618	NM_133374.2		2,0,141,0,114,5410	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1116,2.6705,2.2852			116812464	145,114,11075	1840	4083	5923	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.*17A>-	9.37:g.116812464delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	RNA	DEL	-	NULL	ENST00000374126.5	37	NULL		9																																																																																			ZNF618	-	-	ENSG00000157657		0.363	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	165	0.00	0	A	XM_054983		116812464	116812464	+1	no_errors	ENST00000470105	ensembl	human	known	69_37n	rna	112	29.70	49	DEL	0.003	-
ZNF644	84146	genome.wustl.edu	37	1	91382293	91382293	+	3'UTR	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:91382293delA	ENST00000370440.1	-	0	4263				ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000361321.5_3'UTR|ZNF644_ENST00000337393.5_3'UTR|ZNF644_ENST00000347275.5_3'UTR			Q9H582	ZN644_HUMAN	zinc finger protein 644						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AATGTGGCTTAAAAAAAAAGA	0.313																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.*62T>-	1.37:g.91382293delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	RNA	DEL	-	NULL	ENST00000370440.1	37	NULL	CCDS731.1	1																																																																																			ZNF644	-	-	ENSG00000122482		0.313	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	116	0.00	0	A	NM_032186		91382293	91382293	-1	no_errors	ENST00000467231	ensembl	human	known	69_37n	rna	20	65.33	49	DEL	1.000	-
ZNF654	55279	genome.wustl.edu	37	3	88189791	88189791	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr3:88189791C>T	ENST00000309495.5	+	1	1538	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S444*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TTAGTTTCATCAGATCCTGCT	0.373																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											83.0	80.0	81.0					3																	88189791		1877	4104	5981	-	-	-	SO:0001583	missense	0			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.1331C>T	3.37:g.88189791C>T	ENSP00000312141:p.Ser444Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H791|Q9NV14	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S444L	ENST00000309495.5	37	c.1331	CCDS46874.1	3	.	.	.	.	.	.	.	.	.	.	c	5.774	0.327110	0.10900	.	.	ENSG00000175105	ENST00000309495	T	0.10477	2.87	5.23	5.23	0.72850	.	.	.	.	.	T	0.08802	0.0218	N	0.22421	0.69	0.30826	N	0.737222	B	0.15141	0.012	B	0.11329	0.006	T	0.03433	-1.1037	9	0.45353	T	0.12	.	11.2873	0.49228	0.0:0.9163:0.0:0.0837	.	444	Q8IZM8	ZN654_HUMAN	L	444	ENSP00000312141:S444L	ENSP00000312141:S444L	S	+	2	0	ZNF654	88272481	0.742000	0.28228	0.997000	0.53966	0.536000	0.34869	1.766000	0.38491	2.421000	0.82119	0.574000	0.79327	TCA	ZNF654	-	NULL	ENSG00000175105		0.373	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF654	HGNC	protein_coding	OTTHUMT00000353285.2	341	0.29	1	C	NM_018293		88189791	88189791	+1	no_errors	ENST00000309495	ensembl	human	known	69_37n	missense	159	42.60	118	SNP	0.983	T
ZNF677	342926	genome.wustl.edu	37	19	53741168	53741168	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:53741168G>A	ENST00000598513.1	-	5	962	c.812C>T	c.(811-813)gCt>gTt	p.A271V	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.A271V	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	271					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTGCTAAAAGCCTTTCCACA	0.363																																						dbGAP											0													80.0	73.0	75.0					19																	53741168		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.812C>T	19.37:g.53741168G>A	ENSP00000469391:p.Ala271Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A271V	ENST00000598513.1	37	c.812	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292830	0.23564	.	.	ENSG00000197928	ENST00000333952	T	0.01043	5.41	2.1	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.040280	0.07700	N	0.940213	T	0.01156	0.0038	L	0.28694	0.88	0.23653	N	0.997192	B	0.27997	0.197	B	0.21546	0.035	T	0.47971	-0.9075	10	0.42905	T	0.14	.	6.7442	0.23453	0.157:0.0:0.843:0.0	.	271	Q86XU0	ZN677_HUMAN	V	271	ENSP00000334394:A271V	ENSP00000334394:A271V	A	-	2	0	ZNF677	58432980	0.000000	0.05858	0.999000	0.59377	0.996000	0.88848	-1.498000	0.02287	0.460000	0.27045	0.650000	0.86243	GCT	ZNF677	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197928		0.363	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	153	0.00	0	G	NM_182609		53741168	53741168	-1	no_errors	ENST00000333952	ensembl	human	known	69_37n	missense	86	47.24	77	SNP	1.000	A
ZNF678	339500	genome.wustl.edu	37	1	227751427	227751427	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:227751427T>C	ENST00000343776.5	+	1	182		c.e1+2		ZNF678_ENST00000397097.3_Splice_Site|RNA5SP77_ENST00000365394.1_RNA|ZNF678_ENST00000465266.1_Splice_Site|ZNF678_ENST00000608949.1_Splice_Site	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CGGAAAACGGTGAGAGTTCCC	0.622																																						dbGAP											0													52.0	62.0	59.0					1																	227751427		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.-164+2T>C	1.37:g.227751427T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVQ9	Splice_Site	SNP	-	e1+2	ENST00000343776.5	37	c.30+2		1	.	.	.	.	.	.	.	.	.	.	T	5.463	0.270542	0.10349	.	.	ENSG00000181450	ENST00000397097;ENST00000440339	.	.	.	0.401	0.401	0.16338	.	.	.	.	.	.	.	.	.	.	.	0.25560	N	0.987008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF678	225818050	0.062000	0.20869	0.063000	0.19743	0.061000	0.15899	0.215000	0.17562	0.369000	0.24510	0.358000	0.22013	.	ZNF678	-	-	ENSG00000181450		0.622	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	8	0.00	0	T	NM_178549	Intron	227751427	227751427	+1	no_errors	ENST00000397097	ensembl	human	known	69_37n	splice_site	11	31.25	5	SNP	0.069	C
ZNF688	146542	genome.wustl.edu	37	16	30581745	30581745	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:30581745T>C	ENST00000223459.6	-	3	1427	c.323A>G	c.(322-324)aAc>aGc	p.N108S	AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Missense_Mutation_p.N94S|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TTCCTTCCTGTTTGGGACATC	0.493																																						dbGAP											0													54.0	55.0	54.0					16																	30581745		2196	4300	6496	-	-	-	SO:0001583	missense	0			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.323A>G	16.37:g.30581745T>C	ENSP00000223459:p.Asn108Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N108S	ENST00000223459.6	37	c.323	CCDS10684.1	16	.	.	.	.	.	.	.	.	.	.	T	12.09	1.834009	0.32421	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.03772	3.81;4.04	4.24	0.652	0.17823	.	.	.	.	.	T	0.03011	0.0089	L	0.31926	0.97	0.09310	N	1	B;B	0.18310	0.004;0.027	B;B	0.11329	0.002;0.006	T	0.48210	-0.9055	9	0.07813	T	0.8	.	3.2749	0.06894	0.0:0.227:0.2123:0.5607	.	108;94	P0C7X2;A8MV39	ZN688_HUMAN;.	S	94;108	ENSP00000378645:N94S;ENSP00000223459:N108S	ENSP00000223459:N108S	N	-	2	0	ZNF688	30489246	0.002000	0.14202	0.005000	0.12908	0.640000	0.38277	-0.220000	0.09215	0.238000	0.21222	0.455000	0.32223	AAC	ZNF688	-	NULL	ENSG00000229809		0.493	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF688	HGNC	protein_coding	OTTHUMT00000255544.2	50	0.00	0	T	NM_145271		30581745	30581745	-1	no_errors	ENST00000223459	ensembl	human	known	69_37n	missense	20	47.37	18	SNP	0.004	C
ZNF689	115509	genome.wustl.edu	37	16	30616138	30616138	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:30616138T>C	ENST00000287461.3	-	3	1287	c.950A>G	c.(949-951)tAc>tGc	p.Y317C	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	317					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CGGGCACGGGTAGGGCTTCTC	0.677																																						dbGAP											0													48.0	37.0	41.0					16																	30616138		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.950A>G	16.37:g.30616138T>C	ENSP00000287461:p.Tyr317Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658J5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y317C	ENST00000287461.3	37	c.950	CCDS10686.1	16	.	.	.	.	.	.	.	.	.	.	t	17.91	3.503258	0.64298	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.25414	1.8	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000465	T	0.56645	0.1999	M	0.88775	2.98	0.35899	D	0.830229	D	0.89917	1.0	D	0.97110	1.0	T	0.72184	-0.4367	10	0.87932	D	0	-38.6783	13.3132	0.60393	0.0:0.0:0.0:1.0	.	317	Q96CS4	ZN689_HUMAN	C	317	ENSP00000287461:Y317C	ENSP00000287461:Y317C	Y	-	2	0	ZNF689	30523639	0.007000	0.16637	1.000000	0.80357	0.952000	0.60782	-0.166000	0.09954	2.313000	0.78055	0.454000	0.30748	TAC	ZNF689	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000156853		0.677	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF689	HGNC	protein_coding	OTTHUMT00000255552.1	15	0.00	0	T	NM_138447		30616138	30616138	-1	no_errors	ENST00000287461	ensembl	human	known	69_37n	missense	25	31.58	12	SNP	1.000	C
ZNF689	115509	genome.wustl.edu	37	16	30616236	30616236	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr16:30616236C>T	ENST00000287461.3	-	3	1189	c.852G>A	c.(850-852)acG>acA	p.T284T	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	284					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCTTCTCTCCCGTGTGTGTAC	0.642																																						dbGAP											0													93.0	66.0	75.0					16																	30616236		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.852G>A	16.37:g.30616236C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q658J5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T284	ENST00000287461.3	37	c.852	CCDS10686.1	16																																																																																			ZNF689	-	pfscan_Znf_C2H2	ENSG00000156853		0.642	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF689	HGNC	protein_coding	OTTHUMT00000255552.1	24	0.00	0	C	NM_138447		30616236	30616236	-1	no_errors	ENST00000287461	ensembl	human	known	69_37n	silent	25	44.44	20	SNP	0.003	T
ZNF692	55657	genome.wustl.edu	37	1	249150608	249150608	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:249150608G>T	ENST00000306601.4	-	6	704	c.538C>A	c.(538-540)Cca>Aca	p.P180T	ZNF692_ENST00000366469.5_Missense_Mutation_p.P180T|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000427146.1_Intron|ZNF692_ENST00000451251.1_Missense_Mutation_p.P185T|ZNF692_ENST00000366471.3_Intron|ZNF692_ENST00000468455.1_5'UTR	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GTCTCTGGTGGGGGTCCCACC	0.562																																						dbGAP											0													171.0	146.0	155.0					1																	249150608		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.538C>A	1.37:g.249150608G>T	ENSP00000305483:p.Pro180Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P185T	ENST00000306601.4	37	c.553	CCDS31127.1	1	.	.	.	.	.	.	.	.	.	.	G	4.442	0.081772	0.08533	.	.	ENSG00000171163	ENST00000306601;ENST00000366469;ENST00000451251	T;T;T	0.06768	3.28;3.27;3.26	4.07	1.13	0.20643	.	1.069170	0.07222	N	0.861046	T	0.07234	0.0183	L	0.44542	1.39	0.09310	N	1	B;B	0.26935	0.164;0.164	B;B	0.22601	0.04;0.04	T	0.45411	-0.9263	10	0.14656	T	0.56	-0.0011	6.1997	0.20569	0.327:0.0:0.673:0.0	.	185;180	B4DXZ0;Q9BU19	.;ZN692_HUMAN	T	180;180;185	ENSP00000305483:P180T;ENSP00000355425:P180T;ENSP00000391200:P185T	ENSP00000305483:P180T	P	-	1	0	ZNF692	247117231	0.024000	0.19004	0.000000	0.03702	0.984000	0.73092	0.771000	0.26633	0.270000	0.21984	0.462000	0.41574	CCA	ZNF692	-	NULL	ENSG00000171163		0.562	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF692	HGNC	protein_coding	OTTHUMT00000097298.1	88	0.00	0	G	NM_017865		249150608	249150608	-1	no_errors	ENST00000451251	ensembl	human	known	69_37n	missense	96	32.17	46	SNP	0.001	T
ZNF711	7552	genome.wustl.edu	37	X	84520175	84520175	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chrX:84520175C>G	ENST00000373165.3	+	6	1136	c.830C>G	c.(829-831)gCt>gGt	p.A277G	ZNF711_ENST00000360700.4_Missense_Mutation_p.A277G|ZNF711_ENST00000542798.1_Missense_Mutation_p.A73G|ZNF711_ENST00000276123.3_Missense_Mutation_p.A277G|ZNF711_ENST00000395402.1_Missense_Mutation_p.A255G	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	277					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CATTCAGTAGCTGGAGTGCTT	0.393																																						dbGAP											0													86.0	80.0	82.0					X																	84520175		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.830C>G	X.37:g.84520175C>G	ENSP00000362260:p.Ala277Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A255G	ENST00000373165.3	37	c.764	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489529	0.64074	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.36	4.5	0.54988	Transcriptional activator, Zfx / Zfy domain (1);	0.410669	0.17276	U	0.180194	T	0.38852	0.1056	L	0.50333	1.59	0.37336	D	0.910196	B;B	0.25772	0.021;0.134	B;B	0.31686	0.066;0.134	T	0.24977	-1.0145	10	0.14252	T	0.57	-3.4231	13.1944	0.59730	0.0:0.9209:0.0:0.0791	.	277;277	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	G	255;277;277;277;73	ENSP00000378798:A255G;ENSP00000362260:A277G;ENSP00000276123:A277G;ENSP00000353922:A277G;ENSP00000442071:A73G	ENSP00000276123:A277G	A	+	2	0	ZNF711	84406831	1.000000	0.71417	0.988000	0.46212	0.918000	0.54935	3.482000	0.53186	1.016000	0.39470	0.506000	0.49869	GCT	ZNF711	-	pfam_Transcrp_activ_Zfx/Zfy-dom	ENSG00000147180		0.393	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	225	0.00	0	C	NM_021998		84520175	84520175	+1	no_errors	ENST00000395402	ensembl	human	known	69_37n	missense	126	39.23	82	SNP	1.000	G
ZNF721	170960	genome.wustl.edu	37	4	437287	437287	+	Silent	SNP	A	A	G	rs535041427		TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr4:437287A>G	ENST00000338977.5	-	2	981	c.933T>C	c.(931-933)caT>caC	p.H311H	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.H323H|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GAATTCTCCTATGTACATAAA	0.413													A|||	1	0.000199681	0.0	0.0	5008	,	,		21402	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													82.0	90.0	87.0					4																	437287		2112	4245	6357	-	-	-	SO:0001819	synonymous_variant	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.933T>C	4.37:g.437287A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YG7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H323	ENST00000338977.5	37	c.969		4																																																																																			ZNF721	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.413	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	259	0.38	1	A	NM_133474		437287	437287	-1	no_errors	ENST00000511833	ensembl	human	known	69_37n	silent	114	45.19	94	SNP	0.068	G
ZNF766	90321	genome.wustl.edu	37	19	52794079	52794079	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:52794079T>C	ENST00000439461.1	+	4	1078	c.1035T>C	c.(1033-1035)caT>caC	p.H345H	ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Silent_p.H360H|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Silent_p.H360H	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TCACCACCCATCTGTTAATCC	0.383																																						dbGAP											0													32.0	35.0	34.0					19																	52794079		2138	4278	6416	-	-	-	SO:0001819	synonymous_variant	0			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.1035T>C	19.37:g.52794079T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNE0|Q7Z326	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H360	ENST00000439461.1	37	c.1080	CCDS46163.1	19																																																																																			ZNF766	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196214		0.383	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF766	HGNC	protein_coding	OTTHUMT00000462764.1	84	0.00	0	T	NM_001010851		52794079	52794079	+1	no_errors	ENST00000359102	ensembl	human	known	69_37n	silent	47	38.46	30	SNP	0.240	C
ZNF770	54989	genome.wustl.edu	37	15	35273758	35273758	+	Silent	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr15:35273758T>C	ENST00000356321.4	-	3	2222	c.1878A>G	c.(1876-1878)cgA>cgG	p.R626R		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	626					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AAACACTGCATCGGTACAGGA	0.418																																						dbGAP											0													141.0	131.0	135.0					15																	35273758		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1878A>G	15.37:g.35273758T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMZ6|Q9NWV2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R626	ENST00000356321.4	37	c.1878	CCDS10042.1	15																																																																																			ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.418	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	153	0.00	0	T	NM_014106		35273758	35273758	-1	no_errors	ENST00000356321	ensembl	human	known	69_37n	silent	100	32.43	48	SNP	0.995	C
ZNF816	125893	genome.wustl.edu	37	19	53454284	53454286	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	GTG	GTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:53454284_53454286delGTG	ENST00000357666.4	-	5	1042_1044	c.742_744delCAC	c.(742-744)cacdel	p.H248del	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_In_Frame_Del_p.H248del|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	248					regulation of transcription, DNA-templated (GO:0006355)|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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AATGGGTTATGTGGTGTCTCCTT	0.36																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.742_744delCAC	19.37:g.53454287_53454289delGTG	ENSP00000350295:p.His248del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H5|Q3KR39|Q659B3	In_Frame_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H248in_frame_del	ENST00000357666.4	37	c.744_742	CCDS33096.1	19																																																																																			ZNF816	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180257		0.360	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	254	0.00	0	GTG	NM_001031665		53454284	53454286	-1	no_errors	ENST00000357666	ensembl	human	known	69_37n	in_frame_del	135	42.92	103	DEL	0.032:0.071:0.090	-
ZNF831	128611	genome.wustl.edu	37	20	57781961	57781961	+	Splice_Site	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:57781961T>C	ENST00000371030.2	+	3	3877	c.3877T>C	c.(3877-3879)Tac>Cac	p.Y1293H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1293							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTCTACAGGTACAAAGGGAA	0.547																																						dbGAP											0													161.0	158.0	159.0					20																	57781961		1943	4133	6076	-	-	-	SO:0001630	splice_region_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3876-1T>C	20.37:g.57781961T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y1293H	ENST00000371030.2	37	c.3877	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146539	0.37923	.	.	ENSG00000124203	ENST00000371030	T	0.06449	3.3	5.43	3.17	0.36434	.	0.841078	0.10611	N	0.654470	T	0.11410	0.0278	L	0.32530	0.975	0.23070	N	0.998347	D	0.61697	0.99	P	0.58577	0.841	T	0.26430	-1.0103	10	0.72032	D	0.01	-0.9817	6.4331	0.21809	0.0:0.1898:0.0:0.8102	.	1293	Q5JPB2	ZN831_HUMAN	H	1293	ENSP00000360069:Y1293H	ENSP00000360069:Y1293H	Y	+	1	0	ZNF831	57215356	0.782000	0.28689	0.907000	0.35723	0.162000	0.22319	0.776000	0.26704	0.883000	0.36040	0.528000	0.53228	TAC	ZNF831	-	NULL	ENSG00000124203		0.547	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	156	0.00	0	T	NM_178457	Missense_Mutation	57781961	57781961	+1	no_errors	ENST00000371030	ensembl	human	novel	69_37n	missense	119	41.67	85	SNP	0.788	C
ZNF878	729747	genome.wustl.edu	37	19	12154981	12154981	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:12154981delT	ENST00000547628.1	-	4	1372	c.1235delA	c.(1234-1236)aagfs	p.K412fs	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Del_p.K459fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCGTATGTGCTTTTGAAGGAC	0.428																																						dbGAP											0													75.0	78.0	77.0					19																	12154981		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1235delA	19.37:g.12154981delT	ENSP00000447931:p.Lys412fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K412fs	ENST00000547628.1	37	c.1235	CCDS45984.2	19																																																																																			ZNF878	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257446		0.428	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	184	0.00	0	T	NM_001080404		12154981	12154981	-1	no_errors	ENST00000547628	ensembl	human	novel	69_37n	frame_shift_del	127	32.81	63	DEL	0.000	-
ZNFX1	57169	genome.wustl.edu	37	20	47887220	47887220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr20:47887220G>A	ENST00000396105.1	-	3	1375	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	ZNFX1_ENST00000371754.4_Nonsense_Mutation_p.R377*|ZNFX1_ENST00000371752.1_Nonsense_Mutation_p.R377*	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	377							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAATCTTCTCGCAGGAGCCGG	0.473																																						dbGAP											0													84.0	83.0	83.0					20																	47887220		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1129C>T	20.37:g.47887220G>A	ENSP00000379412:p.Arg377*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.R377*	ENST00000396105.1	37	c.1129	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.041141	0.97226	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	.	.	.	5.85	3.87	0.44632	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8877	13.7134	0.62682	0.0:0.0:0.6:0.4	.	.	.	.	X	377;377;377;377;377;181	.	ENSP00000360809:R377X	R	-	1	2	ZNFX1	47320627	0.982000	0.34865	0.999000	0.59377	0.983000	0.72400	0.822000	0.27352	0.788000	0.33755	0.655000	0.94253	CGA	ZNFX1	-	NULL	ENSG00000124201		0.473	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	148	0.00	0	G	NM_021035		47887220	47887220	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	nonsense	92	40.00	62	SNP	1.000	A
ZNRF3	84133	genome.wustl.edu	37	22	29414314	29414314	+	Intron	SNP	T	T	C			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:29414314T>C	ENST00000544604.2	+	3	601				ZNRF3-IT1_ENST00000412798.1_RNA|ZNRF3_ENST00000332811.4_Intron|ZNRF3_ENST00000406323.3_Intron|ZNRF3_ENST00000402174.1_Intron	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3						canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ggggaaggggtagtgagagaa	0.448																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.427-24169T>C	22.37:g.29414314T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	RNA	SNP	-	NULL	ENST00000544604.2	37	NULL	CCDS56225.1	22																																																																																			ZNRF3-IT1	-	-	ENSG00000235786		0.448	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3-IT1	HGNC	protein_coding	OTTHUMT00000320943.2	18	0.00	0	T	XM_290972		29414314	29414314	+1	no_errors	ENST00000412798	ensembl	human	known	69_37n	rna	15	34.78	8	SNP	0.000	C
ZNRF3	84133	genome.wustl.edu	37	22	29446501	29446501	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr22:29446501C>T	ENST00000544604.2	+	8	2507	c.2332C>T	c.(2332-2334)Ccc>Tcc	p.P778S	ZNRF3_ENST00000332811.4_Missense_Mutation_p.P678S|ZNRF3_ENST00000406323.3_Missense_Mutation_p.P678S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.P678S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	778					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGAGGGTCTGCCCTGCTGCTT	0.647																																						dbGAP											0													11.0	12.0	12.0					22																	29446501		1881	4051	5932	-	-	-	SO:0001583	missense	0			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2332C>T	22.37:g.29446501C>T	ENSP00000443824:p.Pro778Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P778S	ENST00000544604.2	37	c.2332	CCDS56225.1	22	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987675	0.74589	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.43	4.39	0.52855	.	0.054360	0.85682	N	0.000000	D	0.89315	0.6680	M	0.65498	2.005	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.90141	0.4213	10	0.87932	D	0	-17.4094	12.7852	0.57500	0.0:0.9176:0.0:0.0824	.	778	Q9ULT6	ZNRF3_HUMAN	S	778;678;485;678;678	ENSP00000443824:P778S;ENSP00000328614:P678S;ENSP00000384456:P678S;ENSP00000384553:P678S	ENSP00000328614:P678S	P	+	1	0	ZNRF3	27776501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.554000	0.67294	1.359000	0.45940	0.655000	0.94253	CCC	ZNRF3	-	NULL	ENSG00000183579		0.647	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	HGNC	protein_coding	OTTHUMT00000320943.2	10	0.00	0	C	XM_290972		29446501	29446501	+1	no_errors	ENST00000544604	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	1.000	T
ZSWIM4	65249	genome.wustl.edu	37	19	13941204	13941204	+	Silent	SNP	C	C	T			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr19:13941204C>T	ENST00000254323.2	+	13	2499	c.2310C>T	c.(2308-2310)tgC>tgT	p.C770C	ZSWIM4_ENST00000440752.2_Silent_p.C604C	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	770							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTCAGAACTGCGCCTTGCCTG	0.701																																						dbGAP											0													86.0	86.0	86.0					19																	13941204		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2310C>T	19.37:g.13941204C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R232C	ENST00000254323.2	37	c.694	CCDS32924.1	19																																																																																			ZSWIM4	-	NULL	ENSG00000132003		0.701	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	184	0.00	0	C	XM_031342		13941204	13941204	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000592227	ensembl	human	putative	69_37n	missense	102	33.77	52	SNP	1.000	T
ZSWIM5	57643	genome.wustl.edu	37	1	45553775	45553775	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr1:45553775A>G	ENST00000359600.5	-	2	935	c.730T>C	c.(730-732)Tac>Cac	p.Y244H	ZSWIM5_ENST00000464588.1_5'UTR	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	244						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGGCACAGTAGAATATGTCC	0.453																																						dbGAP											0													156.0	145.0	149.0					1																	45553775		2023	4191	6214	-	-	-	SO:0001583	missense	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.730T>C	1.37:g.45553775A>G	ENSP00000352614:p.Tyr244His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SXQ9	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.Y244H	ENST00000359600.5	37	c.730	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.719976	0.89205	.	.	ENSG00000162415	ENST00000359600	T	0.52526	0.66	4.61	4.61	0.57282	Zinc finger, SWIM-type (1);	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.69669	-0.5083	10	0.87932	D	0	-10.055	14.7201	0.69300	1.0:0.0:0.0:0.0	.	244	Q9P217	ZSWM5_HUMAN	H	244	ENSP00000352614:Y244H	ENSP00000352614:Y244H	Y	-	1	0	ZSWIM5	45326362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.025000	0.59659	0.460000	0.39030	TAC	ZSWIM5	-	pfscan_Znf_SWIM	ENSG00000162415		0.453	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	241	0.00	0	A	XM_046581		45553775	45553775	-1	no_errors	ENST00000359600	ensembl	human	known	69_37n	missense	118	42.23	87	SNP	1.000	G
ZSWIM7	125150	genome.wustl.edu	37	17	15897110	15897110	+	Intron	DEL	A	A	-			TCGA-A8-A09Z-01A-11W-A019-09	TCGA-A8-A09Z-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8a59b247-da3f-4334-ad5c-f43f86164d5b	9e2abf15-6ef5-43a4-a4cb-60813371b770	g.chr17:15897110delA	ENST00000399277.1	-	2	174				ZSWIM7_ENST00000399280.2_Intron|ZSWIM7_ENST00000472495.1_Intron|ZSWIM7_ENST00000486655.1_Intron	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7						double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	zinc ion binding (GO:0008270)			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		ATGAGAATGGAAAAAAAAAGT	0.279																																						dbGAP											0													47.0	48.0	48.0					17																	15897110		1815	4070	5885	-	-	-	SO:0001627	intron_variant	0			AK093384	CCDS42266.1	17p11.2	2014-02-12			ENSG00000214941	ENSG00000214941		"""Zinc fingers, SWIM-type"""	26993	protein-coding gene	gene with protein product	"""SWIM domain containing Srs2 interacting protein 1"""	614535				16710300	Standard	NM_001042698		Approved	SWS1	uc002gpf.3	Q19AV6	OTTHUMG00000059308	ENST00000399277.1:c.77-18T>-	17.37:g.15897110delA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000399277.1	37	NULL	CCDS42266.1	17																																																																																			ZSWIM7	-	-	ENSG00000214941		0.279	ZSWIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM7	HGNC	protein_coding	OTTHUMT00000131736.1	70	0.00	0	A	NM_001042697		15897110	15897110	-1	no_errors	ENST00000475498	ensembl	human	known	69_37n	rna	48	35.14	26	DEL	0.002	-
