#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
A2ML1	144568	genome.wustl.edu	37	12	9004584	9004584	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:9004584C>A	ENST00000299698.7	+	19	2619	c.2439C>A	c.(2437-2439)ttC>ttA	p.F813L	A2ML1_ENST00000539547.1_Missense_Mutation_p.F322L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CCACCATCTTCAATTACCTAA	0.483																																						dbGAP											0													152.0	142.0	145.0					12																	9004584		1927	4132	6059	-	-	-	SO:0001583	missense	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2439C>A	12.37:g.9004584C>A	ENSP00000299698:p.Phe813Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.F813L	ENST00000299698.7	37	c.2439	CCDS8596.2	12	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709245	0.68615	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.27256	1.68;1.68;1.68	3.71	3.71	0.42584	Alpha-2-macroglobulin (1);	0.150804	0.30667	N	0.009134	T	0.38081	0.1027	L	0.55213	1.73	0.37532	D	0.917978	D	0.69078	0.997	D	0.66196	0.942	T	0.23547	-1.0185	10	0.29301	T	0.29	.	8.6206	0.33859	0.0:0.8919:0.0:0.1081	.	813	A8K2U0	A2ML1_HUMAN	L	813;813;363;322	ENSP00000299698:F813L;ENSP00000443174:F363L;ENSP00000438292:F322L	ENSP00000299698:F813L	F	+	3	2	A2ML1	8895851	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.617000	0.54181	2.078000	0.62432	0.442000	0.29010	TTC	A2ML1	-	pfam_Macroglobln_a2,pfam_SV_autoAg	ENSG00000166535		0.483	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	36	0.00	0	C	NM_144670		9004584	9004584	+1	no_errors	ENST00000299698	ensembl	human	known	69_37n	missense	32	25.00	11	SNP	1.000	A
A2ML1	144568	genome.wustl.edu	37	12	9004849	9004849	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:9004849C>T	ENST00000299698.7	+	20	2687	c.2507C>T	c.(2506-2508)tCa>tTa	p.S836L	A2ML1_ENST00000539547.1_Missense_Mutation_p.S345L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGCTAGAATCATGGGCAGAT	0.483																																						dbGAP											0													231.0	218.0	222.0					12																	9004849		1954	4165	6119	-	-	-	SO:0001583	missense	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2507C>T	12.37:g.9004849C>T	ENSP00000299698:p.Ser836Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S836L	ENST00000299698.7	37	c.2507	CCDS8596.2	12	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333700	0.41297	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.38560	1.13;1.13;1.13	3.22	3.22	0.36961	.	0.197451	0.24783	N	0.035631	T	0.31295	0.0792	L	0.36672	1.1	0.09310	N	1	B	0.33135	0.399	B	0.29353	0.101	T	0.20405	-1.0276	10	0.32370	T	0.25	.	14.19	0.65633	0.0:1.0:0.0:0.0	.	836	A8K2U0	A2ML1_HUMAN	L	836;836;386;345	ENSP00000299698:S836L;ENSP00000443174:S386L;ENSP00000438292:S345L	ENSP00000299698:S836L	S	+	2	0	A2ML1	8896116	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.642000	0.24735	2.091000	0.63221	0.462000	0.41574	TCA	A2ML1	-	pfam_SV_autoAg	ENSG00000166535		0.483	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	35	0.00	0	C	NM_144670		9004849	9004849	+1	no_errors	ENST00000299698	ensembl	human	known	69_37n	missense	49	20.97	13	SNP	0.023	T
A2ML1	144568	genome.wustl.edu	37	12	9006756	9006756	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:9006756C>G	ENST00000299698.7	+	21	2803	c.2623C>G	c.(2623-2625)Ctg>Gtg	p.L875V	A2ML1_ENST00000539547.1_Missense_Mutation_p.L384V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TACAAAGATTCTGGACAGCAA	0.468																																						dbGAP											0													66.0	67.0	67.0					12																	9006756		1862	4098	5960	-	-	-	SO:0001583	missense	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2623C>G	12.37:g.9006756C>G	ENSP00000299698:p.Leu875Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L875V	ENST00000299698.7	37	c.2623	CCDS8596.2	12	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365759	0.24684	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.45668	0.89;0.89;0.89	3.71	0.282	0.15692	.	1.922540	0.03526	N	0.221734	T	0.37461	0.1004	L	0.48935	1.535	0.23831	N	0.996723	B	0.06786	0.001	B	0.06405	0.002	T	0.27191	-1.0081	10	0.40728	T	0.16	.	7.6054	0.28100	0.172:0.5137:0.3143:0.0	.	875	A8K2U0	A2ML1_HUMAN	V	875;875;425;384	ENSP00000299698:L875V;ENSP00000443174:L425V;ENSP00000438292:L384V	ENSP00000299698:L875V	L	+	1	2	A2ML1	8898023	0.005000	0.15991	0.536000	0.28039	0.917000	0.54804	-0.028000	0.12350	0.285000	0.22329	0.467000	0.42956	CTG	A2ML1	-	pfam_SV_autoAg	ENSG00000166535		0.468	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	27	0.00	0	C	NM_144670		9006756	9006756	+1	no_errors	ENST00000299698	ensembl	human	known	69_37n	missense	13	45.83	11	SNP	0.924	G
AADACL4	343066	genome.wustl.edu	37	1	12726700	12726700	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:12726700C>T	ENST00000376221.1	+	4	1178	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	393						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTCCCATGTTCCCTGAAGATT	0.478																																						dbGAP											0													61.0	67.0	65.0					1																	12726700		2197	4299	6496	-	-	-	SO:0001583	missense	0				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1178C>T	1.37:g.12726700C>T	ENSP00000365395:p.Ser393Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.S393F	ENST00000376221.1	37	c.1178	CCDS30590.1	1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231105	0.39399	.	.	ENSG00000204518	ENST00000376221	T	0.59083	0.29	4.53	3.62	0.41486	.	0.492136	0.19487	N	0.113068	T	0.71256	0.3318	M	0.84846	2.72	0.09310	N	1	D	0.58970	0.984	P	0.58077	0.832	T	0.63519	-0.6619	10	0.72032	D	0.01	-20.1055	8.2481	0.31702	0.0:0.7375:0.1715:0.091	.	393	Q5VUY2	ADCL4_HUMAN	F	393	ENSP00000365395:S393F	ENSP00000365395:S393F	S	+	2	0	AADACL4	12649287	0.122000	0.22280	0.001000	0.08648	0.001000	0.01503	1.555000	0.36277	1.107000	0.41642	0.655000	0.94253	TCC	AADACL4	-	pirsf_Arylacetamide_deacetylase	ENSG00000204518		0.478	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL4	HGNC	protein_coding	OTTHUMT00000005328.1	10	0.00	0	C	NM_001013630		12726700	12726700	+1	no_errors	ENST00000376221	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.001	T
AAK1	22848	genome.wustl.edu	37	2	69746260	69746260	+	Silent	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:69746260A>G	ENST00000409085.4	-	12	1699	c.1323T>C	c.(1321-1323)acT>acC	p.T441T	RN7SL604P_ENST00000492589.2_RNA|SNORA36C_ENST00000384289.1_RNA|AAK1_ENST00000409068.1_Silent_p.T441T|AAK1_ENST00000406297.3_Silent_p.T441T	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	441	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TCTGCTGTGGAGTGGGAGGAG	0.637																																						dbGAP											0													35.0	43.0	40.0					2																	69746260		2113	4243	6356	-	-	-	SO:0001819	synonymous_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1323T>C	2.37:g.69746260A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	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.T441	ENST00000409085.4	37	c.1323	CCDS1893.2	2																																																																																			AAK1	-	NULL	ENSG00000115977		0.637	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	67	0.00	0	A	NM_014911		69746260	69746260	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	silent	155	13.89	25	SNP	0.134	G
AARS	16	genome.wustl.edu	37	16	70298986	70298986	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:70298986C>G	ENST00000261772.8	-	11	1510	c.1367G>C	c.(1366-1368)gGa>gCa	p.G456A	AARS_ENST00000564359.1_5'Flank|RN7SL407P_ENST00000583724.1_RNA	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CCCACCAGCTCCCTTGCCCTG	0.483																																						dbGAP											0													109.0	96.0	100.0					16																	70298986		2198	4300	6498	-	-	-	SO:0001583	missense	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1367G>C	16.37:g.70298986C>G	ENSP00000261772:p.Gly456Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	p.G456A	ENST00000261772.8	37	c.1367	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162460	0.38217	.	.	ENSG00000090861	ENST00000261772	T	0.56776	0.44	6.03	6.03	0.97812	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.053548	0.85682	D	0.000000	T	0.35307	0.0927	N	0.04820	-0.15	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.012;0.007	T	0.11690	-1.0577	10	0.33141	T	0.24	-14.8002	18.0543	0.89360	0.0:1.0:0.0:0.0	.	464;456	E7ETK8;P49588	.;SYAC_HUMAN	A	456	ENSP00000261772:G456A	ENSP00000261772:G456A	G	-	2	0	AARS	68856487	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	5.939000	0.70179	2.868000	0.98415	0.637000	0.83480	GGA	AARS	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-synth_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	ENSG00000090861		0.483	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	44	0.00	0	C	NM_001605		70298986	70298986	-1	no_errors	ENST00000261772	ensembl	human	known	69_37n	missense	44	30.16	19	SNP	1.000	G
ABCB6	10058	genome.wustl.edu	37	2	220075710	220075710	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:220075710C>T	ENST00000265316.3	-	15	2405	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	ABCB6_ENST00000439002.2_Missense_Mutation_p.E651K	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	697	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCAGCCTCCACCTCATCA	0.542																																						dbGAP											0													84.0	73.0	77.0					2																	220075710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2089G>A	2.37:g.220075710C>T	ENSP00000265316:p.Glu697Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Nonsense_Mutation	SNP	NULL	p.W17*	ENST00000265316.3	37	c.51	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.20|10.20	1.284596|1.284596	0.23392|0.23392	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.94280|.	-3.39;-3.39|.	4.7|4.7	0.586|0.586	0.17434|0.17434	ATPase, AAA+ type, core (1);ABC transporter-like (2);|.	0.276517|.	0.39475|.	N|.	0.001349|.	T|.	0.38214|.	0.1032|.	N|N	0.20881|0.20881	0.62|0.62	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.15052|.	0.007;0.012|.	T|.	0.06162|.	-1.0842|.	10|.	0.30854|.	T|.	0.27|.	-5.0026|-5.0026	7.9003|7.9003	0.29731|0.29731	0.0:0.4972:0.3598:0.143|0.0:0.4972:0.3598:0.143	.|.	651;697|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	K|X	697;651|544	ENSP00000265316:E697K;ENSP00000394333:E651K|.	ENSP00000265316:E697K|.	E|W	-|-	1|3	0|0	ABCB6|ABCB6	219783954|219783954	1.000000|1.000000	0.71417|0.71417	0.815000|0.815000	0.32552|0.32552	0.231000|0.231000	0.25187|0.25187	0.873000|0.873000	0.28052|0.28052	-0.016000|-0.016000	0.14127|0.14127	0.650000|0.650000	0.86243|0.86243	GAG|TGG	ABCB6	-	NULL	ENSG00000115657		0.542	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	35	0.00	0	C	NM_005689		220075710	220075710	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443805	ensembl	human	known	69_37n	nonsense	32	38.46	20	SNP	1.000	T
ABCC10	89845	genome.wustl.edu	37	6	43417205	43417205	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:43417205G>C	ENST00000372530.4	+	21	4464	c.4249G>C	c.(4249-4251)Gac>Cac	p.D1417H	ABCC10_ENST00000244533.3_Missense_Mutation_p.D1389H	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1417	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCAGAAGACAGACCAGCTGCT	0.532																																						dbGAP											0													91.0	82.0	85.0					6																	43417205		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4249G>C	6.37:g.43417205G>C	ENSP00000361608:p.Asp1417His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	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.D1417H	ENST00000372530.4	37	c.4249	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486076	0.84854	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394;ENST00000505344	T;T;T	0.78364	-1.17;-1.17;-1.17	5.32	4.45	0.53987	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.172225	0.51477	D	0.000100	D	0.85208	0.5644	M	0.85462	2.755	0.80722	D	1	D;D	0.71674	0.998;0.984	D;P	0.67382	0.951;0.875	D	0.88118	0.2830	10	0.87932	D	0	-14.3319	13.7018	0.62613	0.0741:0.0:0.9258:0.0	.	1389;1417	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	H	1417;1389;173;54	ENSP00000361608:D1417H;ENSP00000244533:D1389H;ENSP00000422699:D54H	ENSP00000244533:D1389H	D	+	1	0	ABCC10	43525183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.247000	0.43917	0.650000	0.86243	GAC	ABCC10	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000124574		0.532	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	17	0.00	0	G	NM_033450		43417205	43417205	+1	no_errors	ENST00000372530	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	1.000	C
ABCC12	94160	genome.wustl.edu	37	16	48145388	48145388	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:48145388C>G	ENST00000311303.3	-	16	2585	c.2240G>C	c.(2239-2241)gGa>gCa	p.G747A	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.G744A	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	747						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGATTCTTTTCCTTCATCTTT	0.413																																						dbGAP											0													225.0	207.0	213.0					16																	48145388		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2240G>C	16.37:g.48145388C>G	ENSP00000311030:p.Gly747Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL2|Q8TAF0|Q8TEY2	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.G747A	ENST00000311303.3	37	c.2240	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	9.739	1.164461	0.21538	.	.	ENSG00000140798	ENST00000311303;ENST00000448542	T;T	0.59906	0.23;0.23	5.2	0.679	0.17975	ABC transporter, transmembrane domain, type 1 (1);	1.475580	0.03531	N	0.222376	T	0.38957	0.1060	N	0.21282	0.65	0.53688	D	0.999977	B	0.06786	0.001	B	0.06405	0.002	T	0.40850	-0.9541	10	0.07813	T	0.8	.	5.1402	0.14955	0.0:0.4903:0.3256:0.1841	.	747	Q96J65	MRP9_HUMAN	A	747;744	ENSP00000311030:G747A;ENSP00000401855:G744A	ENSP00000311030:G747A	G	-	2	0	ABCC12	46702889	0.602000	0.26916	0.710000	0.30468	0.309000	0.27889	0.055000	0.14229	0.190000	0.20209	0.491000	0.48974	GGA	ABCC12	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000140798		0.413	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	83	0.00	0	C	NM_033226		48145388	48145388	-1	no_errors	ENST00000311303	ensembl	human	known	69_37n	missense	81	29.31	34	SNP	0.860	G
ABLIM3	22885	genome.wustl.edu	37	5	148630048	148630048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:148630048C>T	ENST00000506113.1	+	19	2250	c.1768C>T	c.(1768-1770)Cga>Tga	p.R590*	ABLIM3_ENST00000508983.1_Nonsense_Mutation_p.R557*|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000517451.1_Nonsense_Mutation_p.R76*|ABLIM3_ENST00000309868.7_Nonsense_Mutation_p.R590*|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Nonsense_Mutation_p.R495*|ABLIM3_ENST00000504238.1_Nonsense_Mutation_p.R479*|ABLIM3_ENST00000356541.3_Nonsense_Mutation_p.R479*			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	590					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCCTACCGAAGAAATGG	0.502																																						dbGAP											0													100.0	89.0	93.0					5																	148630048		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1768C>T	5.37:g.148630048C>T	ENSP00000425394:p.Arg590*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.R590*	ENST00000506113.1	37	c.1768	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.240300	0.98722	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983;ENST00000517451;ENST00000536903	.	.	.	5.0	0.993	0.19825	.	0.200882	0.42172	D	0.000743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	12.3949	0.55378	0.5587:0.4413:0.0:0.0	.	.	.	.	X	495;479;590;590;479;557;76;75	.	ENSP00000310309:R590X	R	+	1	2	ABLIM3	148610241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.034000	0.41145	0.253000	0.21552	-0.266000	0.10368	CGA	ABLIM3	-	NULL	ENSG00000173210		0.502	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1	64	0.00	0	C	NM_014945		148630048	148630048	+1	no_errors	ENST00000309868	ensembl	human	known	69_37n	nonsense	74	22.92	22	SNP	1.000	T
ACACA	31	genome.wustl.edu	37	17	35609904	35609904	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:35609904C>T	ENST00000394406.2	-	15	1964	c.1774G>A	c.(1774-1776)Gaa>Aaa	p.E592K	ACACA_ENST00000353139.5_Missense_Mutation_p.E629K|ACACA_ENST00000360679.3_Missense_Mutation_p.E534K|ACACA_ENST00000335166.5_Missense_Mutation_p.E514K	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	592	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCAGGTATTCAACTGTAGTT	0.423																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													159.0	155.0	156.0					17																	35609904		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1774G>A	17.37:g.35609904C>T	ENSP00000377928:p.Glu592Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E629K	ENST00000394406.2	37	c.1885	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.896819	0.97081	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.04	6.04	0.98038	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.82056	2.57	0.80722	D	1	D;D;D	0.60575	0.984;0.988;0.984	D;D;P	0.71414	0.973;0.934;0.891	T	0.68808	-0.5311	10	0.59425	D	0.04	-18.994	19.5674	0.95401	0.0:1.0:0.0:0.0	.	629;592;534	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	K	629;534;592;616;514	ENSP00000344789:E629K;ENSP00000353898:E534K;ENSP00000377928:E592K;ENSP00000335323:E514K	ENSP00000335323:E514K	E	-	1	0	ACACA	32684017	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GAA	ACACA	-	pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom	ENSG00000132142		0.423	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	78	0.00	0	C	NM_198836		35609904	35609904	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	missense	98	16.24	19	SNP	0.978	T
ACADSB	36	genome.wustl.edu	37	10	124800072	124800072	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:124800072G>T	ENST00000358776.4	+	4	408	c.394G>T	c.(394-396)Gat>Tat	p.D132Y	ACADSB_ENST00000368869.4_Missense_Mutation_p.D30Y|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	132					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)	AGCCAAAGTTGATGCATCTGT	0.398																																						dbGAP											0													132.0	131.0	131.0					10																	124800072		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.394G>T	10.37:g.124800072G>T	ENSP00000357873:p.Asp132Tyr	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.D132Y	ENST00000358776.4	37	c.394	CCDS7634.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.18|19.18	3.777041|3.777041	0.70107|0.70107	.|.	.|.	ENSG00000196177|ENSG00000196177	ENST00000368869;ENST00000358776|ENST00000411816	D;D|.	0.99766|.	-6.69;-6.69|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85894|0.85894	0.5803|0.5803	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.87841|0.87841	0.2651|0.2651	10|5	0.49607|.	T|.	0.09|.	.|.	19.7785|19.7785	0.96405|0.96405	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	132|.	P45954|.	ACDSB_HUMAN|.	Y|F	30;132|137	ENSP00000357862:D30Y;ENSP00000357873:D132Y|.	ENSP00000357873:D132Y|.	D|L	+|+	1|3	0|2	ACADSB|ACADSB	124790062|124790062	1.000000|1.000000	0.71417|0.71417	0.483000|0.483000	0.27378|0.27378	0.379000|0.379000	0.30106|0.30106	9.614000|9.614000	0.98353|0.98353	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	GAT|TTG	ACADSB	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase	ENSG00000196177		0.398	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADSB	HGNC	protein_coding	OTTHUMT00000050843.1	47	0.00	0	G	NM_001609		124800072	124800072	+1	no_errors	ENST00000358776	ensembl	human	known	69_37n	missense	31	35.42	17	SNP	1.000	T
ACSL3	2181	genome.wustl.edu	37	2	223782858	223782861	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs200097335		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:223782858_223782861delACAA	ENST00000357430.3	+	6	1182_1185	c.651_654delACAA	c.(649-654)ttacaafs	p.LQ217fs	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Frame_Shift_Del_p.LQ217fs	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	217					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AAGAACTCTTACAAACAAAGTTGA	0.343			T	ETV1	prostate																																	dbGAP		Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.651_654delACAA	2.37:g.223782862_223782865delACAA	ENSP00000350012:p.Leu217fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q60I92|Q8IUM9	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig	p.T219fs	ENST00000357430.3	37	c.651_654	CCDS2455.1	2																																																																																			ACSL3	-	pfam_AMP-dep_Synth/Lig	ENSG00000123983		0.343	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	52	0.00	0	ACAA	NM_004457		223782858	223782861	+1	no_errors	ENST00000357430	ensembl	human	known	69_37n	frame_shift_del	75	18.09	17	DEL	0.998:1.000:1.000:0.989	-
ADAMTS1	9510	genome.wustl.edu	37	21	28212280	28212280	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:28212280G>C	ENST00000284984.3	-	6	2220	c.1766C>G	c.(1765-1767)cCa>cGa	p.P589R		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	589	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTTTGGGACTGGGTTGTCACA	0.537																																						dbGAP											0													168.0	137.0	148.0					21																	28212280		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1766C>G	21.37:g.28212280G>C	ENSP00000284984:p.Pro589Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,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-TS1,prints_Peptidase_M12B_ADAM-TS	p.P589R	ENST00000284984.3	37	c.1766	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945287	0.73672	.	.	ENSG00000154734	ENST00000284984	T	0.52983	0.64	5.11	5.11	0.69529	.	.	.	.	.	T	0.77883	0.4197	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83524	0.0087	9	0.87932	D	0	.	19.0887	0.93217	0.0:0.0:1.0:0.0	.	589	Q9UHI8	ATS1_HUMAN	R	589	ENSP00000284984:P589R	ENSP00000284984:P589R	P	-	2	0	ADAMTS1	27134151	1.000000	0.71417	0.991000	0.47740	0.518000	0.34316	9.263000	0.95617	2.826000	0.97356	0.655000	0.94253	CCA	ADAMTS1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000154734		0.537	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	51	0.00	0	G			28212280	28212280	-1	no_errors	ENST00000284984	ensembl	human	known	69_37n	missense	33	52.86	37	SNP	1.000	C
AFF2	2334	genome.wustl.edu	37	X	148055004	148055004	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:148055004G>C	ENST00000370460.2	+	16	3750	c.3271G>C	c.(3271-3273)Gag>Cag	p.E1091Q	AFF2_ENST00000286437.5_Missense_Mutation_p.E732Q|AFF2_ENST00000342251.3_Missense_Mutation_p.E1058Q|AFF2_ENST00000370457.5_Missense_Mutation_p.E1056Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1091					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTCAGTTCGAGAAATTTGG	0.468																																						dbGAP											0													173.0	145.0	154.0					X																	148055004		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3271G>C	X.37:g.148055004G>C	ENSP00000359489:p.Glu1091Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E1091Q	ENST00000370460.2	37	c.3271	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949909	0.92660	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.72	5.72	0.89469	.	0.059066	0.64402	D	0.000003	D	0.82935	0.5145	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D;D	0.89917	0.992;0.996;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.76575	0.96;0.977;0.985;0.979;0.979;0.988	D	0.84883	0.0832	10	0.87932	D	0	.	18.8728	0.92322	0.0:0.0:1.0:0.0	.	732;1056;1056;1052;1081;1091	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	1091;1056;1058;732	ENSP00000359489:E1091Q;ENSP00000359486:E1056Q;ENSP00000345459:E1058Q;ENSP00000286437:E732Q	ENSP00000286437:E732Q	E	+	1	0	AFF2	147862693	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.827000	0.99397	2.404000	0.81709	0.600000	0.82982	GAG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	67	0.00	0	G	NM_002025		148055004	148055004	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	88	27.87	34	SNP	1.000	C
AFF3	3899	genome.wustl.edu	37	2	100623122	100623122	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:100623122G>C	ENST00000409236.2	-	5	957	c.845C>G	c.(844-846)tCc>tGc	p.S282C	AFF3_ENST00000356421.2_Missense_Mutation_p.S307C|AFF3_ENST00000317233.4_Missense_Mutation_p.S282C|AFF3_ENST00000409579.1_Missense_Mutation_p.S307C			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	282					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTGAACTTGGAGAGCTTGGC	0.542																																						dbGAP											0													55.0	59.0	57.0					2																	100623122		2203	4300	6503	-	-	-	SO:0001583	missense	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.845C>G	2.37:g.100623122G>C	ENSP00000387207:p.Ser282Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S307C	ENST00000409236.2	37	c.920	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118289	0.56505	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.46	5.46	0.80206	.	0.488381	0.19862	N	0.104407	T	0.69780	0.3149	L	0.38175	1.15	0.32994	D	0.525392	B;B;P;B;B	0.47484	0.309;0.038;0.896;0.017;0.013	B;B;P;B;B	0.50791	0.055;0.02;0.65;0.019;0.011	T	0.77710	-0.2486	10	0.87932	D	0	.	19.3032	0.94151	0.0:0.0:1.0:0.0	.	436;436;282;282;307	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	C	282;307;307;282;282;436;307	ENSP00000317421:S282C;ENSP00000348793:S307C;ENSP00000386834:S307C;ENSP00000387207:S282C	ENSP00000317421:S282C	S	-	2	0	AFF3	99989554	1.000000	0.71417	0.945000	0.38365	0.996000	0.88848	6.328000	0.72915	2.563000	0.86464	0.655000	0.94253	TCC	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.542	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	23	0.00	0	G	NM_002285		100623122	100623122	-1	no_errors	ENST00000356421	ensembl	human	known	69_37n	missense	25	46.94	23	SNP	0.983	C
AFM	173	genome.wustl.edu	37	4	74365813	74365813	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:74365813C>A	ENST00000226355.3	+	12	1608	c.1515C>A	c.(1513-1515)ttC>ttA	p.F505L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	505	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTTGCCTTCAGAAGGCCCT	0.408																																						dbGAP											0													139.0	137.0	138.0					4																	74365813		2203	4300	6503	-	-	-	SO:0001583	missense	0			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1515C>A	4.37:g.74365813C>A	ENSP00000226355:p.Phe505Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	pirsf_Serum_albumin_subgr,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_Serum_albumin,prints_Alpha-fetoprotein	p.F505L	ENST00000226355.3	37	c.1515	CCDS3557.1	4	.	.	.	.	.	.	.	.	.	.	C	9.810	1.183030	0.21870	.	.	ENSG00000079557	ENST00000226355	T	0.57595	0.39	5.64	2.94	0.34122	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.263179	0.33813	N	0.004522	T	0.61022	0.2314	L	0.54908	1.71	0.27852	N	0.940701	D	0.89917	1.0	D	0.87578	0.998	T	0.50101	-0.8867	10	0.28530	T	0.3	.	7.4489	0.27227	0.0:0.747:0.0:0.253	.	505	P43652	AFAM_HUMAN	L	505	ENSP00000226355:F505L	ENSP00000226355:F505L	F	+	3	2	AFM	74584677	1.000000	0.71417	0.987000	0.45799	0.879000	0.50718	0.687000	0.25407	1.379000	0.46325	0.655000	0.94253	TTC	AFM	-	pirsf_Serum_albumin_subgr,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N	ENSG00000079557		0.408	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFM	HGNC	protein_coding	OTTHUMT00000252275.2	61	0.00	0	C			74365813	74365813	+1	no_errors	ENST00000226355	ensembl	human	known	69_37n	missense	90	29.69	38	SNP	0.926	A
AGAP1	116987	genome.wustl.edu	37	2	236839505	236839505	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:236839505C>T	ENST00000304032.8	+	12	2001	c.1421C>T	c.(1420-1422)tCa>tTa	p.S474L	AGAP1_ENST00000428334.2_Missense_Mutation_p.S313L|AGAP1_ENST00000409538.1_Intron|AGAP1_ENST00000336665.5_Intron	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	474	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGCTCCTACTCAGTCTCCAGT	0.612																																						dbGAP											0													71.0	60.0	64.0					2																	236839505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1421C>T	2.37:g.236839505C>T	ENSP00000307634:p.Ser474Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.S474L	ENST00000304032.8	37	c.1421	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516727	0.64634	.	.	ENSG00000157985	ENST00000304032;ENST00000428334	T;T	0.76839	-1.05;-1.05	5.36	5.36	0.76844	Pleckstrin homology domain (3);	0.333150	0.23887	N	0.043593	D	0.85553	0.5723	L	0.55743	1.74	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.82114	-0.0617	10	0.27785	T	0.31	.	19.0672	0.93116	0.0:1.0:0.0:0.0	.	474	Q9UPQ3	AGAP1_HUMAN	L	474;313	ENSP00000307634:S474L;ENSP00000411824:S313L	ENSP00000307634:S474L	S	+	2	0	AGAP1	236504244	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	7.451000	0.80668	2.676000	0.91093	0.655000	0.94253	TCA	AGAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000157985		0.612	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	25	0.00	0	C	NM_014914		236839505	236839505	+1	no_errors	ENST00000304032	ensembl	human	known	69_37n	missense	17	43.33	13	SNP	1.000	T
AHDC1	27245	genome.wustl.edu	37	1	27878020	27878020	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:27878020C>G	ENST00000247087.5	-	5	1203	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.E203Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	203	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCCCTAGGCTCAGGCTCAGGC	0.672																																						dbGAP											0													44.0	49.0	47.0					1																	27878020		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.607G>C	1.37:g.27878020C>G	ENSP00000247087:p.Glu203Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	NULL	p.E203Q	ENST00000247087.5	37	c.607	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184701	0.78677	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.45668	0.89;0.89	4.6	4.6	0.57074	.	.	.	.	.	T	0.43567	0.1253	N	0.14661	0.345	0.30204	N	0.798342	D	0.54772	0.968	P	0.59546	0.859	T	0.42103	-0.9471	9	0.41790	T	0.15	-10.7463	14.3259	0.66521	0.0:1.0:0.0:0.0	.	203	Q5TGY3	AHDC1_HUMAN	Q	203	ENSP00000247087:E203Q;ENSP00000363123:E203Q	ENSP00000247087:E203Q	E	-	1	0	AHDC1	27750607	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	4.438000	0.59961	2.097000	0.63578	0.467000	0.42956	GAG	AHDC1	-	NULL	ENSG00000126705		0.672	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	29	0.00	0	C			27878020	27878020	-1	no_errors	ENST00000247087	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	1.000	G
AHR	196	genome.wustl.edu	37	7	17378965	17378965	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:17378965G>A	ENST00000242057.4	+	10	2159	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	506					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|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)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	GATGGGAAATGATACTATCCT	0.393																																						dbGAP											0													87.0	86.0	87.0					7																	17378965		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1516G>A	7.37:g.17378965G>A	ENSP00000242057:p.Asp506Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd	p.D506N	ENST00000242057.4	37	c.1516	CCDS5366.1	7	.	.	.	.	.	.	.	.	.	.	G	3.672	-0.067239	0.07273	.	.	ENSG00000106546	ENST00000242057	T	0.04502	3.61	5.75	3.96	0.45880	.	1.058340	0.07253	N	0.866279	T	0.04137	0.0115	N	0.21373	0.66	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.47045	-0.9147	10	0.26408	T	0.33	.	5.3476	0.16018	0.2933:0.1487:0.558:0.0	.	506	P35869	AHR_HUMAN	N	506	ENSP00000242057:D506N	ENSP00000242057:D506N	D	+	1	0	AHR	17345490	0.380000	0.25131	0.001000	0.08648	0.073000	0.16967	1.207000	0.32333	0.778000	0.33520	-0.145000	0.13849	GAT	AHR	-	NULL	ENSG00000106546		0.393	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHR	HGNC	protein_coding	OTTHUMT00000314620.2	21	0.00	0	G	NM_001621		17378965	17378965	+1	no_errors	ENST00000242057	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	0.003	A
AKAP9	10142	genome.wustl.edu	37	7	91714196	91714196	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:91714196C>T	ENST00000359028.2	+	35	9011	c.8786C>T	c.(8785-8787)tCa>tTa	p.S2929L	AKAP9_ENST00000356239.3_Missense_Mutation_p.S2925L|AKAP9_ENST00000358100.2_Intron			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2929					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)			GACATAGCATCAGAAGGCCGA	0.348			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													116.0	120.0	119.0					7																	91714196		2203	4300	6503	-	-	-	SO:0001583	missense	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.8786C>T	7.37:g.91714196C>T	ENSP00000351922:p.Ser2929Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	NULL	p.Q70*	ENST00000359028.2	37	c.208		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.51|11.51	1.660494|1.660494	0.29515|0.29515	.|.	.|.	ENSG00000127914|ENSG00000127914	ENST00000435423|ENST00000356239;ENST00000359028;ENST00000413120;ENST00000394534	.|T;T;T	.|0.49139	.|0.79;0.79;0.79	5.06|5.06	2.21|2.21	0.28008|0.28008	.|.	.|0.803616	.|0.10199	.|N	.|0.703617	.|T	.|0.45518	.|0.1346	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.21225	.|0.053;0.004;0.003;0.004;0.004	.|B;B;B;B;B	.|0.19946	.|0.027;0.01;0.004;0.01;0.01	.|T	.|0.18650	.|-1.0330	.|10	.|0.22706	.|T	.|0.39	.|.	10.8825|10.8825	0.46946|0.46946	0.0:0.7937:0.0:0.2063|0.0:0.7937:0.0:0.2063	.|.	.|2929;2929;2929;2925;2917	.|F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.|.;.;AKAP9_HUMAN;.;.	X|L	70|2925;2929;2929;771	.|ENSP00000348573:S2925L;ENSP00000351922:S2929L;ENSP00000378042:S771L	.|ENSP00000348573:S2925L	Q|S	+|+	1|2	0|0	AKAP9|AKAP9	91552132|91552132	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.959000|0.959000	0.62525|0.62525	2.563000|2.563000	0.45922|0.45922	0.239000|0.239000	0.21243|0.21243	-0.291000|-0.291000	0.09656|0.09656	CAG|TCA	AKAP9	-	NULL	ENSG00000127914		0.348	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		28	0.00	0	C	NM_005751		91714196	91714196	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000435423	ensembl	human	putative	69_37n	nonsense	49	31.94	23	SNP	0.994	T
AK9	221264	genome.wustl.edu	37	6	109837846	109837846	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:109837846C>T	ENST00000424296.2	-	30	3710		c.e30-1			NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TAACAACATTCTAAGGAAGAA	0.303																																						dbGAP											0													190.0	157.0	167.0					6																	109837846		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3634-1G>A	6.37:g.109837846C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Splice_Site	SNP	-	e29-1	ENST00000424296.2	37	c.3634-1	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764568	0.49574	.	.	ENSG00000155085	ENST00000424296;ENST00000470564	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9664	0.53038	0.0:0.9125:0.0:0.0875	.	.	.	.	.	-1	.	.	.	-	.	.	AKD1	109944539	0.753000	0.28349	0.896000	0.35187	0.295000	0.27426	2.727000	0.47311	2.335000	0.79485	0.650000	0.86243	.	AKD1	-	-	ENSG00000155085		0.303	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		83	0.00	0	C	NM_001145128	Intron	109837846	109837846	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	splice_site	90	18.18	20	SNP	0.973	T
AKTIP	64400	genome.wustl.edu	37	16	53526408	53526408	+	Silent	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:53526408T>C	ENST00000394657.7	-	10	969	c.795A>G	c.(793-795)aaA>aaG	p.K265K	AKTIP_ENST00000300245.4_Silent_p.K266K|AKTIP_ENST00000570004.1_Silent_p.K265K	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	265					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CATGAACACTTTTATTGTGCT	0.413																																						dbGAP											0													105.0	104.0	104.0					16																	53526408		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.795A>G	16.37:g.53526408T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q503B1|Q53H38	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K266	ENST00000394657.7	37	c.798	CCDS10749.1	16																																																																																			AKTIP	-	NULL	ENSG00000166971		0.413	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKTIP	HGNC	protein_coding	OTTHUMT00000256909.4	34	0.00	0	T	NM_022476		53526408	53526408	-1	no_errors	ENST00000300245	ensembl	human	known	69_37n	silent	33	23.26	10	SNP	1.000	C
ALDOB	229	genome.wustl.edu	37	9	104187272	104187272	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:104187272G>A	ENST00000374855.4	-	8	976	c.852C>T	c.(850-852)ctC>ctT	p.L284L	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	284			L -> P (in HFI). {ECO:0000269|PubMed:15880727}.		carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TGATAGCATTGAGGTTGAGAG	0.517																																						dbGAP											0													93.0	87.0	89.0					9																	104187272		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.852C>T	9.37:g.104187272G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13741|Q13742|Q5T7D6	Silent	SNP	pfam_Aldolase_I	p.L284	ENST00000374855.4	37	c.852	CCDS6756.1	9																																																																																			ALDOB	-	pfam_Aldolase_I	ENSG00000136872		0.517	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	33	0.00	0	G			104187272	104187272	-1	no_errors	ENST00000374855	ensembl	human	known	69_37n	silent	47	22.95	14	SNP	1.000	A
ALKBH1	8846	genome.wustl.edu	37	14	78174215	78174215	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:78174215C>T	ENST00000216489.3	-	1	148	c.133G>A	c.(133-135)Gac>Aac	p.D45N	SLIRP_ENST00000238688.5_5'Flank|SLIRP_ENST00000557431.1_5'Flank|SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557342.1_5'Flank	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	45					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCCGAGAAGTCGATGACCCCT	0.662											OREG0022840	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													38.0	41.0	40.0					14																	78174215		2201	4299	6500	-	-	-	SO:0001583	missense	0			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.133G>A	14.37:g.78174215C>T	ENSP00000216489:p.Asp45Asn	Somatic	1181	WXS	Illumina GAIIx	Phase_IV	Q8TAU1|Q9ULA7	Missense_Mutation	SNP	tigrfam_Alkb	p.D45N	ENST00000216489.3	37	c.133	CCDS32127.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.246680	0.95305	.	.	ENSG00000100601	ENST00000216489	T	0.37411	1.2	5.96	5.96	0.96718	.	0.043652	0.85682	D	0.000000	T	0.39172	0.1068	M	0.66939	2.045	0.58432	D	0.999996	P	0.52316	0.952	B	0.38020	0.263	T	0.44390	-0.9331	10	0.59425	D	0.04	-10.9464	18.5813	0.91172	0.0:1.0:0.0:0.0	.	45	Q13686	ALKB1_HUMAN	N	45	ENSP00000216489:D45N	ENSP00000216489:D45N	D	-	1	0	ALKBH1	77243968	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.416000	0.59815	2.826000	0.97356	0.655000	0.94253	GAC	ALKBH1	-	NULL	ENSG00000100601		0.662	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH1	HGNC	protein_coding	OTTHUMT00000414037.1	9	0.00	0	C	NM_006020		78174215	78174215	-1	no_errors	ENST00000216489	ensembl	human	known	69_37n	missense	3	72.73	8	SNP	1.000	T
ALKBH2	121642	genome.wustl.edu	37	12	109526219	109526219	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:109526219C>G	ENST00000429722.2	-	4	941	c.578G>C	c.(577-579)aGa>aCa	p.R193T	ALKBH2_ENST00000440112.2_Missense_Mutation_p.E127Q|ALKBH2_ENST00000343075.3_Missense_Mutation_p.R193T	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	193	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GACAAAGTCTCTGCAGGCACC	0.587								Direct reversal of damage																														dbGAP											0													88.0	97.0	94.0					12																	109526219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.578G>C	12.37:g.109526219C>G	ENSP00000398181:p.Arg193Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4PET2|Q5XLE3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.R193T	ENST00000429722.2	37	c.578	CCDS31897.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.49|15.49	2.849804|2.849804	0.51270|0.51270	.|.	.|.	ENSG00000189046|ENSG00000189046	ENST00000440112|ENST00000429722;ENST00000343075;ENST00000435370	.|T;T	.|0.18810	.|2.19;2.19	5.8|5.8	4.9|4.9	0.64082|0.64082	.|Oxoglutarate/iron-dependent oxygenase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49029|0.49029	0.1533|0.1533	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|D	0.37207|0.89917	0.587|1.0	B|D	0.36464|0.97110	0.225|1.0	T|T	0.55692|0.55692	-0.8101|-0.8101	7|9	0.40728|0.87932	T|D	0.16|0	-31.6974|-31.6974	16.0098|16.0098	0.80391|0.80391	0.0:0.8654:0.1346:0.0|0.0:0.8654:0.1346:0.0	.|.	127|193	A4PET2|Q6NS38	.|ALKB2_HUMAN	Q|T	127|193	.|ENSP00000398181:R193T;ENSP00000343021:R193T	ENSP00000399820:E127Q|ENSP00000343021:R193T	E|R	-|-	1|2	0|0	ALKBH2|ALKBH2	108010602|108010602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.806000|0.806000	0.45545|0.45545	7.080000|7.080000	0.76837|0.76837	1.432000|1.432000	0.47375|0.47375	-0.176000|-0.176000	0.13171|0.13171	GAG|AGA	ALKBH2	-	pfam_Oxoglu/Fe-dep_dioxygenase	ENSG00000189046		0.587	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALKBH2	HGNC	protein_coding	OTTHUMT00000403063.2	34	0.00	0	C	NM_001001655		109526219	109526219	-1	no_errors	ENST00000343075	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	G
AMIGO1	57463	genome.wustl.edu	37	1	110050164	110050164	+	Silent	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:110050164G>C	ENST00000369864.4	-	2	1720	c.1371C>G	c.(1369-1371)ctC>ctG	p.L457L	AMIGO1_ENST00000369862.1_Silent_p.L457L					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGCCTGGCTTGAGCTTGCCGT	0.587																																						dbGAP											0													99.0	86.0	90.0					1																	110050164		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1371C>G	1.37:g.110050164G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like	p.L457	ENST00000369864.4	37	c.1371	CCDS30795.1	1																																																																																			AMIGO1	-	NULL	ENSG00000181754		0.587	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO1	HGNC	protein_coding	OTTHUMT00000032247.1	22	0.00	0	G	NM_020703		110050164	110050164	-1	no_errors	ENST00000369862	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	0.980	C
ANGPTL4	51129	genome.wustl.edu	37	19	8430846	8430846	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:8430846C>G	ENST00000301455.2	+	2	498	c.327C>G	c.(325-327)ctC>ctG	p.L109L	ANGPTL4_ENST00000393962.2_Silent_p.L109L|ANGPTL4_ENST00000541807.1_5'UTR	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	109					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						AGACACAACTCAAGGCTCAGA	0.552																																						dbGAP											0													70.0	64.0	66.0					19																	8430846		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.327C>G	19.37:g.8430846C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L109	ENST00000301455.2	37	c.327	CCDS12200.1	19																																																																																			ANGPTL4	-	NULL	ENSG00000167772		0.552	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL4	HGNC	protein_coding	OTTHUMT00000460322.1	45	0.00	0	C	NM_139314		8430846	8430846	+1	no_errors	ENST00000301455	ensembl	human	known	69_37n	silent	23	47.73	21	SNP	0.850	G
ANK2	287	genome.wustl.edu	37	4	114277934	114277934	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:114277934C>G	ENST00000357077.4	+	38	8213	c.8160C>G	c.(8158-8160)ttC>ttG	p.F2720L	ANK2_ENST00000264366.6_Missense_Mutation_p.F2687L|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2720					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)		AATATACTTTCAAGATGAATG	0.428																																						dbGAP											0													76.0	78.0	77.0					4																	114277934		2203	4300	6503	-	-	-	SO:0001583	missense	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.8160C>G	4.37:g.114277934C>G	ENSP00000349588:p.Phe2720Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	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.F2720L	ENST00000357077.4	37	c.8160	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448508	0.63178	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.72505	-0.66;-0.66	6.03	4.28	0.50868	.	0.101674	0.43919	D	0.000515	T	0.80042	0.4551	M	0.72894	2.215	0.80722	D	1	P;D	0.71674	0.666;0.998	B;D	0.63283	0.137;0.913	T	0.79315	-0.1854	9	.	.	.	.	11.6426	0.51242	0.0:0.8549:0.0:0.1451	.	2687;2720	Q01484;Q01484-4	ANK2_HUMAN;.	L	2720;2687	ENSP00000349588:F2720L;ENSP00000264366:F2687L	.	F	+	3	2	ANK2	114497383	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	0.682000	0.25335	0.856000	0.35383	0.655000	0.94253	TTC	ANK2	-	NULL	ENSG00000145362		0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	32	0.00	0	C	NM_001148		114277934	114277934	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	13	53.33	16	SNP	1.000	G
ANKMY2	57037	genome.wustl.edu	37	7	16650260	16650260	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:16650260C>T	ENST00000306999.2	-	6	903	c.660G>A	c.(658-660)atG>atA	p.M220I		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	220						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AATGCATCTTCATAGCCAATA	0.353																																						dbGAP											0													152.0	137.0	142.0					7																	16650260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.660G>A	7.37:g.16650260C>T	ENSP00000303570:p.Met220Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.M220I	ENST00000306999.2	37	c.660	CCDS5361.1	7	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769450	0.49680	.	.	ENSG00000106524	ENST00000306999	D	0.81579	-1.51	5.78	3.96	0.45880	.	0.104771	0.85682	N	0.000000	T	0.71762	0.3378	L	0.41824	1.3	0.51012	D	0.999909	B	0.10296	0.003	B	0.09377	0.004	T	0.67150	-0.5743	10	0.34782	T	0.22	-17.3377	11.8339	0.52312	0.0:0.8592:0.0:0.1408	.	220	Q8IV38	ANKY2_HUMAN	I	220	ENSP00000303570:M220I	ENSP00000303570:M220I	M	-	3	0	ANKMY2	16616785	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.827000	0.55745	1.435000	0.47434	0.655000	0.94253	ATG	ANKMY2	-	NULL	ENSG00000106524		0.353	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKMY2	HGNC	protein_coding	OTTHUMT00000207600.2	64	0.00	0	C	NM_020319		16650260	16650260	-1	no_errors	ENST00000306999	ensembl	human	known	69_37n	missense	73	27.00	27	SNP	1.000	T
ANKRD28	23243	genome.wustl.edu	37	3	15711902	15711902	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:15711902C>T	ENST00000399451.2	-	28	3404	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	ANKRD28_ENST00000383777.1_Missense_Mutation_p.E1046K|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	1013						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GGCAAAGCTTCAAAGCTGACT	0.423																																						dbGAP											0													252.0	242.0	245.0					3																	15711902		1956	4157	6113	-	-	-	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.3037G>A	3.37:g.15711902C>T	ENSP00000382379:p.Glu1013Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	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.E1046K	ENST00000399451.2	37	c.3136	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229104	0.58777	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.64260	-0.09;-0.09;-0.09	5.65	5.65	0.86999	.	0.045995	0.85682	D	0.000000	T	0.41373	0.1156	N	0.08118	0	0.44728	D	0.99772	B;B	0.27498	0.18;0.002	B;B	0.19946	0.027;0.005	T	0.41466	-0.9507	10	0.07644	T	0.81	.	19.7241	0.96154	0.0:1.0:0.0:0.0	.	93;1013	B4DS25;O15084	.;ANR28_HUMAN	K	1013;1046;1013	ENSP00000382379:E1013K;ENSP00000373287:E1046K;ENSP00000397341:E1013K	ENSP00000373287:E1046K	E	-	1	0	ANKRD28	15686906	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.920000	0.70017	2.668000	0.90789	0.655000	0.94253	GAA	ANKRD28	-	NULL	ENSG00000206560		0.423	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	47	0.00	0	C	NM_015199		15711902	15711902	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	missense	49	46.15	42	SNP	1.000	T
ANO3	63982	genome.wustl.edu	37	11	26463504	26463504	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:26463504C>T	ENST00000256737.3	+	2	938	c.86C>T	c.(85-87)tCg>tTg	p.S29L	ANO3_ENST00000537978.1_Missense_Mutation_p.S13L|ANO3_ENST00000525139.1_Missense_Mutation_p.S13L|ANO3_ENST00000531646.1_Missense_Mutation_p.S29L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	29					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAAGAAACTTCGTTAAAACCG	0.413																																						dbGAP											0													118.0	124.0	122.0					11																	26463504		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.86C>T	11.37:g.26463504C>T	ENSP00000256737:p.Ser29Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.S29L	ENST00000256737.3	37	c.86	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755104	0.49362	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.64	5.64	0.86602	.	0.454838	0.22437	N	0.060077	T	0.45276	0.1334	N	0.14661	0.345	0.19300	N	0.999974	B	0.28605	0.217	B	0.16289	0.015	T	0.45323	-0.9269	10	0.52906	T	0.07	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	29	Q9BYT9	ANO3_HUMAN	L	13;13;29;29	ENSP00000440737:S13L;ENSP00000432576:S13L;ENSP00000256737:S29L;ENSP00000435275:S29L	ENSP00000256737:S29L	S	+	2	0	ANO3	26420080	0.062000	0.20869	0.444000	0.26895	0.551000	0.35334	4.172000	0.58243	2.831000	0.97527	0.650000	0.86243	TCG	ANO3	-	NULL	ENSG00000134343		0.413	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	22	0.00	0	C	NM_031418		26463504	26463504	+1	no_errors	ENST00000256737	ensembl	human	known	69_37n	missense	14	48.15	13	SNP	0.138	T
ANO1	55107	genome.wustl.edu	37	11	70007266	70007266	+	Splice_Site	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:70007266G>T	ENST00000355303.5	+	17	1883		c.e17-1		ANO1_ENST00000531349.1_Splice_Site|ANO1_ENST00000538023.1_Splice_Site|ANO1_ENST00000530676.1_Splice_Site|ANO1_ENST00000398543.2_Splice_Site|ANO1_ENST00000316296.5_Splice_Site	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CCCCCCTGCAGATTGCAGTGA	0.637																																						dbGAP											0													36.0	37.0	36.0					11																	70007266		2028	4161	6189	-	-	-	SO:0001630	splice_region_variant	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1579-1G>T	11.37:g.70007266G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAM3|Q8IYY8|Q8N7V3	Splice_Site	SNP	-	e17-1	ENST00000355303.5	37	c.1579-1	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691580	0.68271	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9454	0.92620	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO1	69684914	1.000000	0.71417	0.978000	0.43139	0.611000	0.37282	9.488000	0.97947	2.460000	0.83146	0.655000	0.94253	.	ANO1	-	-	ENSG00000131620		0.637	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	31	0.00	0	G	NM_018043	Intron	70007266	70007266	+1	no_errors	ENST00000355303	ensembl	human	known	69_37n	splice_site	5	58.33	7	SNP	1.000	T
APH1A	51107	genome.wustl.edu	37	1	150241120	150241120	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:150241120G>A	ENST00000369109.3	-	1	279	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.R31C|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.R31C	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	31					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)|metanephros development (GO:0001656)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAACGCGAAGCGGGTCC	0.647																																						dbGAP											0													20.0	26.0	24.0					1																	150241120		1883	4097	5980	-	-	-	SO:0001583	missense	0			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.91C>T	1.37:g.150241120G>A	ENSP00000358105:p.Arg31Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	pfam_Aph-1	p.R31C	ENST00000369109.3	37	c.91	CCDS41390.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955280	0.73902	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.99	4.99	0.66335	.	0.134854	0.45126	D	0.000388	T	0.64897	0.2640	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.998;0.999;1.0	D;P;P;D;D	0.69824	0.966;0.667;0.906;0.943;0.961	T	0.71337	-0.4623	10	0.87932	D	0	-5.2281	10.8073	0.46524	0.0:0.0:0.8115:0.1885	.	31;31;31;31;31	B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;APH1A_HUMAN	C	31	ENSP00000358105:R31C;ENSP00000353380:R31C;ENSP00000397473:R31C;ENSP00000236017:R31C	ENSP00000236017:R31C	R	-	1	0	APH1A	148507744	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.551000	0.45820	2.586000	0.87340	0.561000	0.74099	CGC	APH1A	-	pfam_Aph-1	ENSG00000117362		0.647	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	18	0.00	0	G	NM_016022		150241120	150241120	-1	no_errors	ENST00000369109	ensembl	human	known	69_37n	missense	14	51.72	15	SNP	1.000	A
APOBEC3B	9582	genome.wustl.edu	37	22	39380199	39380199	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:39380199C>G	ENST00000333467.3	+	2	182	c.137C>G	c.(136-138)tCa>tGa	p.S46*	APOBEC3B_ENST00000407298.3_Nonsense_Mutation_p.S46*|APOBEC3B_ENST00000402182.3_Nonsense_Mutation_p.S46*	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	46					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					AGGGGCCGCTCAAATCTCCTT	0.483																																						dbGAP											0													47.0	52.0	50.0					22																	39380199		2197	4279	6476	-	-	-	SO:0001587	stop_gained	0			AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.137C>G	22.37:g.39380199C>G	ENSP00000327459:p.Ser46*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Nonsense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.S46*	ENST00000333467.3	37	c.137	CCDS13982.1	22	.	.	.	.	.	.	.	.	.	.	.	12.98	2.099002	0.37048	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	.	.	.	2.22	-1.64	0.08318	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.0699	0.06226	0.0:0.4594:0.2316:0.3089	.	.	.	.	X	46	.	ENSP00000327459:S46X	S	+	2	0	APOBEC3B	37710145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.319000	0.08039	-0.278000	0.09180	-0.474000	0.04947	TCA	APOBEC3B	-	pfam_APOBEC_N	ENSG00000179750		0.483	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3B	HGNC	protein_coding	OTTHUMT00000321233.1	35	0.00	0	C	NM_004900		39380199	39380199	+1	no_errors	ENST00000333467	ensembl	human	known	69_37n	nonsense	22	63.93	39	SNP	0.000	G
APOBEC3F	200316	genome.wustl.edu	37	22	39440105	39440105	+	Intron	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:39440105C>T	ENST00000308521.5	+	3	528				APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000381565.2_Silent_p.I63I|APOBEC3F_ENST00000491387.1_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F						base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I63I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ggtctttcatcagagccccat	0.517																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											64.0	57.0	60.0					22																	39440105		2166	4245	6411	-	-	-	SO:0001627	intron_variant	0			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.172-841C>T	22.37:g.39440105C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	pfam_APOBEC_N	p.I63	ENST00000308521.5	37	c.189	CCDS33648.1	22																																																																																			APOBEC3F	-	NULL	ENSG00000128394		0.517	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3F	HGNC	protein_coding	OTTHUMT00000321216.1	69	0.00	0	C	NM_145298		39440105	39440105	+1	no_errors	ENST00000381565	ensembl	human	putative	69_37n	silent	54	38.20	34	SNP	0.125	T
ARFRP1	10139	genome.wustl.edu	37	20	62337709	62337709	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:62337709C>T	ENST00000359715.5	-	3	830	c.264G>A	c.(262-264)aaG>aaA	p.K88K	ARFRP1_ENST00000440854.1_Splice_Site_p.K88K|ZGPAT_ENST00000355969.6_5'Flank|ARFRP1_ENST00000609142.1_Splice_Site_p.K88K|RP4-583P15.15_ENST00000490623.2_5'Flank|ZGPAT_ENST00000357119.4_5'Flank|ARFRP1_ENST00000607873.1_Splice_Site_p.K41K|ARFRP1_ENST00000324228.2_Splice_Site_p.K88K|ZGPAT_ENST00000328969.5_5'Flank|ZGPAT_ENST00000369967.3_5'Flank|ZGPAT_ENST00000448100.2_5'Flank			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	88					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K88N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			GGAGTCTTACCTTGTCCCACA	0.592																																						dbGAP											1	Substitution - Missense(1)	lung(1)											133.0	112.0	119.0					20																	62337709		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.264+1G>A	20.37:g.62337709C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKX7|E1P5J9|Q6IBQ0	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.K88	ENST00000359715.5	37	c.264	CCDS13533.1	20																																																																																			ARFRP1	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom	ENSG00000101246		0.592	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFRP1	HGNC	protein_coding	OTTHUMT00000472024.1	27	0.00	0	C		Silent	62337709	62337709	-1	no_errors	ENST00000324228	ensembl	human	known	69_37n	silent	11	38.89	7	SNP	1.000	T
ARHGAP26	23092	genome.wustl.edu	37	5	142513542	142513542	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:142513542C>T	ENST00000274498.4	+	19	2087	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.T570I	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	570					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATTTAACACCGTGCCCGAT	0.542																																						dbGAP											0													192.0	185.0	188.0					5																	142513542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1709C>T	5.37:g.142513542C>T	ENSP00000274498:p.Thr570Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.T570I	ENST00000274498.4	37	c.1709	CCDS4277.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.353773|4.353773	0.82243|0.82243	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000443674;ENST00000418236|ENST00000274498;ENST00000378004;ENST00000418668	.|T;T	.|0.21734	.|1.99;1.99	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	.|0.100582	.|0.64402	.|D	.|0.000002	T|T	0.30230|0.30230	0.0758|0.0758	L|L	0.52905|0.52905	1.665|1.665	0.58432|0.58432	D|D	0.999994|0.999994	.|P;P;P	.|0.45126	.|0.851;0.847;0.764	.|B;P;B	.|0.45232	.|0.122;0.474;0.424	T|T	0.00577|0.00577	-1.1662|-1.1662	5|10	.|0.46703	.|T	.|0.11	.|.	19.1569|19.1569	0.93514|0.93514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|570;143;570	.|Q9UNA1;B3KT96;Q9UNA1-2	.|RHG26_HUMAN;.;.	S|I	189;142|570;570;143	.|ENSP00000274498:T570I;ENSP00000367243:T570I	.|ENSP00000274498:T570I	P|T	+|+	1|2	0|0	ARHGAP26|ARHGAP26	142493735|142493735	0.997000|0.997000	0.39634|0.39634	0.979000|0.979000	0.43373|0.43373	0.838000|0.838000	0.47535|0.47535	3.848000|3.848000	0.55903|0.55903	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	CCG|ACC	ARHGAP26	-	superfamily_Rho_GTPase_activation_prot	ENSG00000145819		0.542	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP26	HGNC	protein_coding	OTTHUMT00000132744.3	20	0.00	0	C	NM_015071		142513542	142513542	+1	no_errors	ENST00000274498	ensembl	human	known	69_37n	missense	13	36.36	8	SNP	0.996	T
ARHGAP35	2909	genome.wustl.edu	37	19	47424131	47424131	+	Silent	SNP	C	C	T	rs576379485		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:47424131C>T	ENST00000404338.3	+	1	2199	c.2199C>T	c.(2197-2199)ctC>ctT	p.L733L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	733					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GTGTCTTTCTCGACCCTGCTT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		22444	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													74.0	71.0	72.0					19																	47424131		1973	4163	6136	-	-	-	SO:0001819	synonymous_variant	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2199C>T	19.37:g.47424131C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A4|Q14452|Q9C0E1	Silent	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L733	ENST00000404338.3	37	c.2199	CCDS46127.1	19																																																																																			ARHGAP35	-	NULL	ENSG00000160007		0.428	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	54	0.00	0	C	NM_004491		47424131	47424131	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	silent	36	33.33	18	SNP	0.001	T
ARHGAP44	9912	genome.wustl.edu	37	17	12847444	12847444	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:12847444C>T	ENST00000379672.5	+	10	1092	c.792C>T	c.(790-792)agC>agT	p.S264S	ARHGAP44_ENST00000262444.9_Silent_p.S264S|ARHGAP44_ENST00000340825.3_Silent_p.S264S	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	264	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCACCATCAGCGGCCGGGAGA	0.627																																						dbGAP											0													42.0	50.0	47.0					17																	12847444		2072	4213	6285	-	-	-	SO:0001819	synonymous_variant	0				CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.792C>T	17.37:g.12847444C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.S264	ENST00000379672.5	37	c.792	CCDS45616.1	17																																																																																			ARHGAP44	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom	ENSG00000006740		0.627	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP44	HGNC	protein_coding	OTTHUMT00000441566.1	28	0.00	0	C	NM_014859		12847444	12847444	+1	no_errors	ENST00000379672	ensembl	human	known	69_37n	silent	13	43.48	10	SNP	0.454	T
ARHGAP8	23779	genome.wustl.edu	37	22	45182383	45182383	+	5'UTR	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:45182383G>A	ENST00000389774.2	+	0	117				ARHGAP8_ENST00000389773.5_Silent_p.V114V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V123V|ARHGAP8_ENST00000469872.1_3'UTR|ARHGAP8_ENST00000517296.3_Silent_p.V246V|ARHGAP8_ENST00000336963.4_5'UTR|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V246V|ARHGAP8_ENST00000356099.6_5'UTR	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8						positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TGGGTGCAGTGAGGAAGAGGC	0.607																																						dbGAP											0													25.0	27.0	26.0					22																	45182383		2202	4299	6501	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.-25G>A	22.37:g.45182383G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom	p.V246	ENST00000389774.2	37	c.738	CCDS33664.1	22																																																																																			ARHGAP8	-	NULL	ENSG00000241484		0.607	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP8	HGNC	protein_coding	OTTHUMT00000075088.4	25	0.00	0	G	NM_017701		45182383	45182383	+1	no_errors	ENST00000517296	ensembl	human	known	69_37n	silent	14	33.33	7	SNP	0.000	A
ARID4A	5926	genome.wustl.edu	37	14	58831283	58831283	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:58831283C>T	ENST00000355431.3	+	20	2849	c.2476C>T	c.(2476-2478)Cat>Tat	p.H826Y	ARID4A_ENST00000431317.2_Missense_Mutation_p.H826Y|ARID4A_ENST00000395168.3_Missense_Mutation_p.H826Y|ARID4A_ENST00000348476.3_Missense_Mutation_p.H826Y	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	826					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TATAGAAGCTCATAGTCTTGA	0.328																																						dbGAP											0													38.0	43.0	41.0					14																	58831283		2192	4295	6487	-	-	-	SO:0001583	missense	0			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2476C>T	14.37:g.58831283C>T	ENSP00000347602:p.His826Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.H826Y	ENST00000355431.3	37	c.2476	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	C	3.977	-0.007257	0.07773	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.14144	2.54;2.54;2.54;2.54;2.53	5.9	5.02	0.67125	.	1.163560	0.06023	N	0.651598	T	0.11324	0.0276	N	0.19112	0.55	0.09310	N	1	B;B;B	0.31790	0.34;0.031;0.053	B;B;B	0.28139	0.086;0.013;0.028	T	0.28870	-1.0030	10	0.59425	D	0.04	-0.0343	9.6491	0.39886	0.0:0.6724:0.249:0.0786	.	826;826;826	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Y	826;826;826;826;504	ENSP00000347602:H826Y;ENSP00000344556:H826Y;ENSP00000378597:H826Y;ENSP00000397368:H826Y;ENSP00000416053:H504Y	ENSP00000344556:H826Y	H	+	1	0	ARID4A	57901036	0.125000	0.22332	0.002000	0.10522	0.085000	0.17905	2.955000	0.49121	1.497000	0.48584	0.650000	0.86243	CAT	ARID4A	-	NULL	ENSG00000032219		0.328	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	18	0.00	0	C	NM_023001		58831283	58831283	+1	no_errors	ENST00000355431	ensembl	human	known	69_37n	missense	8	55.56	10	SNP	0.005	T
ARPC2	10109	genome.wustl.edu	37	2	219110143	219110143	+	Splice_Site	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:219110143G>T	ENST00000295685.10	+	7	811	c.550G>T	c.(550-552)Gag>Tag	p.E184*	ARPC2_ENST00000315717.5_Splice_Site_p.E184*|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	184					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GTCTTGGCAGGAGTTCAAAGA	0.527																																						dbGAP											0													88.0	92.0	91.0					2																	219110143		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.550-1G>T	2.37:g.219110143G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92801|Q9P1D4	Nonsense_Mutation	SNP	pfam_P34-arc	p.E184*	ENST00000295685.10	37	c.550	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.179505	0.98118	.	.	ENSG00000163466	ENST00000315717;ENST00000295685	.	.	.	5.65	5.65	0.86999	.	0.088942	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	.	E	+	1	0	ARPC2	218818388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GAG	ARPC2	-	pfam_P34-arc	ENSG00000163466		0.527	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	31	0.00	0	G	NM_005731	Nonsense_Mutation	219110143	219110143	+1	no_errors	ENST00000295685	ensembl	human	known	69_37n	nonsense	36	14.29	6	SNP	1.000	T
ARPP21	10777	genome.wustl.edu	37	3	35723355	35723355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:35723355G>T	ENST00000187397.4	+	3	568	c.112G>T	c.(112-114)Gag>Tag	p.E38*	ARPP21_ENST00000427542.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000474696.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000396482.2_Nonsense_Mutation_p.E38*|ARPP21_ENST00000396481.2_Nonsense_Mutation_p.E38*|ARPP21_ENST00000337271.5_Nonsense_Mutation_p.E38*|ARPP21_ENST00000436702.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000441454.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000412048.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000432682.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000428373.1_Nonsense_Mutation_p.E38*|ARPP21_ENST00000438071.1_Nonsense_Mutation_p.E38*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	38					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGATGAAGAGGAGAAACTGGA	0.463																																						dbGAP											0													93.0	93.0	93.0					3																	35723355		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.112G>T	3.37:g.35723355G>T	ENSP00000187397:p.Glu38*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E38*	ENST00000187397.4	37	c.112	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.161717	0.97338	.	.	ENSG00000172995	ENST00000450234;ENST00000428373;ENST00000458225;ENST00000337271;ENST00000444190;ENST00000449196;ENST00000187397;ENST00000452563;ENST00000438577;ENST00000419330;ENST00000427542;ENST00000474696;ENST00000412048;ENST00000396482;ENST00000432682;ENST00000432450;ENST00000413378;ENST00000417925;ENST00000396481;ENST00000441454;ENST00000436702;ENST00000438071	.	.	.	6.05	6.05	0.98169	.	0.131736	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-25.5649	13.9659	0.64209	0.0714:0.0:0.9286:0.0	.	.	.	.	X	38	.	ENSP00000187397:E38X	E	+	1	0	ARPP21	35698359	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.530000	0.73816	2.866000	0.98385	0.650000	0.86243	GAG	ARPP21	-	NULL	ENSG00000172995		0.463	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	23	0.00	0	G	NM_198399		35723355	35723355	+1	no_errors	ENST00000417925	ensembl	human	known	69_37n	nonsense	24	44.68	21	SNP	1.000	T
ASPHD2	57168	genome.wustl.edu	37	22	26829767	26829767	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:26829767C>T	ENST00000215906.5	+	2	624	c.186C>T	c.(184-186)atC>atT	p.I62I		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	62					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						CCGCTGTCATCACTGTGGCCT	0.652																																						dbGAP											0													96.0	81.0	86.0					22																	26829767		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.186C>T	22.37:g.26829767C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.I62	ENST00000215906.5	37	c.186	CCDS13834.2	22																																																																																			ASPHD2	-	NULL	ENSG00000128203		0.652	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	24	0.00	0	C	NM_020437		26829767	26829767	+1	no_errors	ENST00000215906	ensembl	human	known	69_37n	silent	28	15.15	5	SNP	0.009	T
ASPM	259266	genome.wustl.edu	37	1	197061148	197061148	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:197061148G>A	ENST00000367409.4	-	22	9589	c.9333C>T	c.(9331-9333)ttC>ttT	p.F3111F	ASPM_ENST00000294732.7_Silent_p.F1526F|ASPM_ENST00000367408.1_Silent_p.F776F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3111					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAGCTGCAGTGAAGTGAAGAA	0.363																																						dbGAP											0													106.0	108.0	107.0					1																	197061148		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9333C>T	1.37:g.197061148G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.F3111	ENST00000367409.4	37	c.9333	CCDS1389.1	1																																																																																			ASPM	-	superfamily_ARM-type_fold	ENSG00000066279		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	41	0.00	0	G	NM_018136		197061148	197061148	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	silent	69	42.50	51	SNP	0.759	A
ASXL2	55252	genome.wustl.edu	37	2	25965240	25965240	+	Silent	SNP	C	C	T	rs372536765		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:25965240C>T	ENST00000435504.4	-	13	4259	c.3966G>A	c.(3964-3966)caG>caA	p.Q1322Q	ASXL2_ENST00000336112.4_Silent_p.Q1294Q|ASXL2_ENST00000404843.1_Silent_p.Q805Q|ASXL2_ENST00000272341.4_Silent_p.Q805Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1322					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCCCTATCTGGGTGGGGC	0.537																																						dbGAP											0													28.0	27.0	28.0					2																	25965240		1929	4126	6055	-	-	-	SO:0001819	synonymous_variant	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3966G>A	2.37:g.25965240C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	superfamily_Znf_FYVE_PHD	p.Q1322	ENST00000435504.4	37	c.3966		2																																																																																			ASXL2	-	NULL	ENSG00000143970		0.537	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	20	0.00	0	C	NM_018263		25965240	25965240	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	silent	17	26.09	6	SNP	0.979	T
ATAD2	29028	genome.wustl.edu	37	8	124383508	124383508	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:124383508C>T	ENST00000287394.5	-	5	714	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	203					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCAAGTCTTCAAGTTCTCTC	0.308																																						dbGAP											0													86.0	85.0	86.0					8																	124383508		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.607G>A	8.37:g.124383508C>T	ENSP00000287394:p.Glu203Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E203K	ENST00000287394.5	37	c.607	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465042	0.63513	.	.	ENSG00000156802	ENST00000287394	T	0.34072	1.38	5.06	5.06	0.68205	.	1.270430	0.04922	N	0.455242	T	0.46054	0.1373	M	0.68952	2.095	0.80722	D	1	P;P	0.40250	0.465;0.709	B;B	0.38378	0.23;0.272	T	0.46359	-0.9197	10	0.30854	T	0.27	-10.0279	18.0327	0.89290	0.0:1.0:0.0:0.0	.	33;203	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	K	203	ENSP00000287394:E203K	ENSP00000287394:E203K	E	-	1	0	ATAD2	124452689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.155000	0.50700	2.351000	0.79841	0.555000	0.69702	GAA	ATAD2	-	NULL	ENSG00000156802		0.308	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	77	0.00	0	C	NM_014109		124383508	124383508	-1	no_errors	ENST00000287394	ensembl	human	known	69_37n	missense	104	19.38	25	SNP	1.000	T
ATAD2B	54454	genome.wustl.edu	37	2	24046241	24046241	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:24046241T>A	ENST00000238789.5	-	16	2361	c.2018A>T	c.(2017-2019)cAt>cTt	p.H673L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	673						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATAGTGCATGCCCTGAAGA	0.458																																						dbGAP											0													79.0	79.0	79.0					2																	24046241		2011	4180	6191	-	-	-	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2018A>T	2.37:g.24046241T>A	ENSP00000238789:p.His673Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.H673L	ENST00000238789.5	37	c.2018	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708016	0.48412	.	.	ENSG00000119778	ENST00000238789	D	0.91577	-2.87	5.07	5.07	0.68467	.	.	.	.	.	D	0.90940	0.7152	M	0.81682	2.555	0.32384	N	0.554133	B	0.09022	0.002	B	0.12156	0.007	D	0.91044	0.4873	9	0.51188	T	0.08	.	15.1515	0.72703	0.0:0.0:0.0:1.0	.	673	Q9ULI0	ATD2B_HUMAN	L	673	ENSP00000238789:H673L	ENSP00000238789:H673L	H	-	2	0	ATAD2B	23899745	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.174000	0.50847	2.054000	0.61138	0.459000	0.35465	CAT	ATAD2B	-	NULL	ENSG00000119778		0.458	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	41	0.00	0	T	NM_017552		24046241	24046241	-1	no_errors	ENST00000238789	ensembl	human	known	69_37n	missense	47	26.56	17	SNP	1.000	A
ATAD5	79915	genome.wustl.edu	37	17	29221087	29221087	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:29221087G>T	ENST00000321990.4	+	21	5594	c.5216G>T	c.(5215-5217)aGa>aTa	p.R1739I		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1739					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)				AAATTAGGAAGAGATCCAACC	0.353																																						dbGAP											0													47.0	49.0	48.0					17																	29221087		2203	4300	6503	-	-	-	SO:0001583	missense	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.5216G>T	17.37:g.29221087G>T	ENSP00000313171:p.Arg1739Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R1739I	ENST00000321990.4	37	c.5216	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523642	0.44866	.	.	ENSG00000176208	ENST00000321990	T	0.09163	3.01	6.08	0.237	0.15475	.	0.736434	0.14705	N	0.303286	T	0.09512	0.0234	L	0.51422	1.61	0.38098	D	0.937165	P	0.37955	0.612	B	0.32289	0.143	T	0.21965	-1.0230	10	0.66056	D	0.02	.	9.7148	0.40268	0.5341:0.0:0.4659:0.0	.	1739	Q96QE3	ATAD5_HUMAN	I	1739	ENSP00000313171:R1739I	ENSP00000313171:R1739I	R	+	2	0	ATAD5	26245213	0.789000	0.28775	0.998000	0.56505	0.982000	0.71751	0.219000	0.17641	0.166000	0.19597	-0.216000	0.12614	AGA	ATAD5	-	NULL	ENSG00000176208		0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	38	0.00	0	G	NM_024857		29221087	29221087	+1	no_errors	ENST00000321990	ensembl	human	known	69_37n	missense	45	37.50	27	SNP	0.987	T
ATP11B	23200	genome.wustl.edu	37	3	182605459	182605459	+	Missense_Mutation	SNP	A	A	T	rs200531169		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:182605459A>T	ENST00000323116.5	+	24	3061	c.2801A>T	c.(2800-2802)cAt>cTt	p.H934L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	934					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)			TTGGAACAGCATGTAGACCCT	0.328													A|||	1	0.000199681	0.0	0.0	5008	,	,		16313	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													146.0	144.0	145.0					3																	182605459		2203	4295	6498	-	-	-	SO:0001583	missense	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.2801A>T	3.37:g.182605459A>T	ENSP00000321195:p.His934Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FN1|Q9UKK7	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.H934L	ENST00000323116.5	37	c.2801	CCDS33896.1	3	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	A|A	16.00|16.00	2.998292|2.998292	0.54147|0.54147	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116;ENST00000482070|ENST00000498086	T;T|.	0.44881|.	0.91;0.91|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.056860|.	0.64402|.	D|.	0.000001|.	T|T	0.71400|0.71400	0.3335|0.3335	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	B;B|.	0.11235|.	0.003;0.004|.	B;B|.	0.13407|.	0.003;0.009|.	T|T	0.70761|0.70761	-0.4784|-0.4784	10|5	0.46703|.	T|.	0.11|.	.|.	15.4307|15.4307	0.75092|0.75092	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	508;934|.	B3KSJ2;Q9Y2G3|.	.;AT11B_HUMAN|.	L|L	934;149|735	ENSP00000321195:H934L;ENSP00000417124:H149L|.	ENSP00000321195:H934L|.	H|M	+|+	2|1	0|0	ATP11B|ATP11B	184088153|184088153	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.956000|0.956000	0.61745|0.61745	6.625000|6.625000	0.74248|0.74248	2.052000|2.052000	0.61016|0.61016	0.460000|0.460000	0.39030|0.39030	CAT|ATG	ATP11B	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000058063		0.328	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	48	0.00	0	A	NM_014616		182605459	182605459	+1	no_errors	ENST00000323116	ensembl	human	known	69_37n	missense	101	14.29	17	SNP	1.000	T
ATP13A3	79572	genome.wustl.edu	37	3	194154626	194154626	+	Splice_Site	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:194154626C>G	ENST00000439040.1	-	21	2912		c.e21-1		ATP13A3_ENST00000256031.4_Splice_Site			Q9H7F0	AT133_HUMAN	ATPase type 13A3							integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AATTGCATCTCTGCAGAAAAA	0.303																																						dbGAP											0													81.0	74.0	76.0					3																	194154626		1806	4073	5879	-	-	-	SO:0001630	splice_region_variant	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2121-1G>C	3.37:g.194154626C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC11|Q96KS1	Splice_Site	SNP	-	e19-1	ENST00000439040.1	37	c.2121-1	CCDS43187.1	3	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654082	0.88056	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8361	0.96658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP13A3	195635915	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.091000	0.71406	2.703000	0.92315	0.650000	0.86243	.	ATP13A3	-	-	ENSG00000133657		0.303	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	47	0.00	0	C	NM_024524	Intron	194154626	194154626	-1	no_errors	ENST00000256031	ensembl	human	known	69_37n	splice_site	68	46.51	60	SNP	1.000	G
ATP5G2	517	genome.wustl.edu	37	12	54063126	54063126	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:54063126C>T	ENST00000549164.1	-	4	305		c.e4-1		ATP5G2_ENST00000550241.1_5'Flank|ATP5G2_ENST00000394349.3_Splice_Site|ATP5G2_ENST00000602871.1_Splice_Site|ATP5G2_ENST00000338662.5_Splice_Site			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)						ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGCTGAGGCTCTGTGAAAAAG	0.473																																						dbGAP											0													35.0	33.0	34.0					12																	54063126		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.118-1G>A	12.37:g.54063126C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQQ6	Splice_Site	SNP	-	e4-1	ENST00000549164.1	37	c.289-1		12	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148530	0.21288	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.41143	D	0.985977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.169	0.89739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP5G2	52349393	0.003000	0.15002	0.973000	0.42090	0.356000	0.29392	1.621000	0.36986	2.906000	0.99361	0.655000	0.94253	.	ATP5G2	-	-	ENSG00000135390		0.473	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	ATP5G2	HGNC	protein_coding	OTTHUMT00000407403.1	47	0.00	0	C	NM_005176	Intron	54063126	54063126	-1	no_errors	ENST00000394349	ensembl	human	known	69_37n	splice_site	37	21.28	10	SNP	0.159	T
ATP6V0A4	50617	genome.wustl.edu	37	7	138437565	138437566	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:138437565_138437566delCT	ENST00000310018.2	-	11	1115_1116	c.833_834delAG	c.(832-834)gagfs	p.E278fs	ATP6V0A4_ENST00000393054.1_Frame_Shift_Del_p.E278fs|ATP6V0A4_ENST00000353492.4_Frame_Shift_Del_p.E278fs	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	278					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						GGCGGTGAGACTCTGTTTGTGT	0.495																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.833_834delAG	7.37:g.138437567_138437568delCT	ENSP00000308122:p.Glu278fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R4|A8KA80|Q32M47	Frame_Shift_Del	DEL	pfam_ATPase_V0/A0_a	p.E278fs	ENST00000310018.2	37	c.834_833	CCDS5849.1	7																																																																																			ATP6V0A4	-	pfam_ATPase_V0/A0_a	ENSG00000105929		0.495	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	31	0.00	0	CT	NM_020632		138437565	138437566	-1	no_errors	ENST00000310018	ensembl	human	known	69_37n	frame_shift_del	28	12.50	4	DEL	0.997:1.000	-
AVIL	10677	genome.wustl.edu	37	12	58204223	58204223	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:58204223G>T	ENST00000257861.3	-	6	1100	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	AVIL_ENST00000537081.1_Missense_Mutation_p.Q217K	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	224	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGGGTGTCCTGAAGGACCTTC	0.517																																						dbGAP											0													130.0	112.0	118.0					12																	58204223		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.670C>A	12.37:g.58204223G>T	ENSP00000257861:p.Gln224Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU7|Q2NKM9	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.Q224K	ENST00000257861.3	37	c.670	CCDS8959.1	12	.	.	.	.	.	.	.	.	.	.	G	7.785	0.710349	0.15239	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.28255	1.62;1.62	5.19	4.28	0.50868	.	0.390428	0.27109	N	0.020889	T	0.13072	0.0317	N	0.16368	0.405	0.25379	N	0.988639	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.37103	-0.9720	10	0.06236	T	0.91	-21.3915	4.4033	0.11397	0.0852:0.152:0.6058:0.1571	.	217;224	O75366-2;O75366	.;AVIL_HUMAN	K	217;224	ENSP00000443207:Q217K;ENSP00000257861:Q224K	ENSP00000257861:Q224K	Q	-	1	0	AVIL	56490490	0.791000	0.28800	1.000000	0.80357	0.890000	0.51754	-0.232000	0.09055	2.704000	0.92352	0.655000	0.94253	CAG	AVIL	-	smart_Gelsolin	ENSG00000135407		0.517	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1	34	0.00	0	G	NM_006576		58204223	58204223	-1	no_errors	ENST00000257861	ensembl	human	known	69_37n	missense	36	22.92	11	SNP	0.993	T
B3GNT5	84002	genome.wustl.edu	37	3	182988034	182988034	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:182988034G>C	ENST00000326505.3	+	2	978	c.448G>C	c.(448-450)Gat>Cat	p.D150H	B3GNT5_ENST00000465010.1_Missense_Mutation_p.D150H|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.D150H	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	150					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGCTTGGGAAGATCAAAGGTA	0.388																																						dbGAP											0													56.0	53.0	54.0					3																	182988034		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.448G>C	3.37:g.182988034G>C	ENSP00000316173:p.Asp150His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.D150H	ENST00000326505.3	37	c.448	CCDS3244.1	3	.	.	.	.	.	.	.	.	.	.	G	8.018	0.758922	0.15846	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.44083	0.93;0.93;0.93	5.91	5.01	0.66863	.	0.113444	0.64402	D	0.000019	T	0.33294	0.0858	L	0.31420	0.93	0.51767	D	0.999931	B	0.33694	0.421	B	0.36719	0.231	T	0.17653	-1.0362	10	0.52906	T	0.07	.	10.5158	0.44889	0.1521:0.0:0.8479:0.0	.	150	Q9BYG0	B3GN5_HUMAN	H	150	ENSP00000316173:D150H;ENSP00000420778:D150H;ENSP00000417868:D150H	ENSP00000316173:D150H	D	+	1	0	B3GNT5	184470728	1.000000	0.71417	0.991000	0.47740	0.021000	0.10359	4.142000	0.58044	1.442000	0.47568	0.650000	0.86243	GAT	B3GNT5	-	pfam_Glyco_trans_31	ENSG00000176597		0.388	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	21	0.00	0	G	NM_032047		182988034	182988034	+1	no_errors	ENST00000326505	ensembl	human	known	69_37n	missense	39	28.57	16	SNP	1.000	C
B3GNT5	84002	genome.wustl.edu	37	3	182988373	182988373	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:182988373G>A	ENST00000326505.3	+	2	1317	c.787G>A	c.(787-789)Gat>Aat	p.D263N	B3GNT5_ENST00000465010.1_Missense_Mutation_p.D263N|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.D263N	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	263					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATCTCCGGTGATGTAGCTGC	0.443																																						dbGAP											0													72.0	63.0	66.0					3																	182988373		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.787G>A	3.37:g.182988373G>A	ENSP00000316173:p.Asp263Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.D263N	ENST00000326505.3	37	c.787	CCDS3244.1	3	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518877	0.64634	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.44881	0.91;0.91;0.91	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70842	-0.4762	10	0.54805	T	0.06	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	263	Q9BYG0	B3GN5_HUMAN	N	263	ENSP00000316173:D263N;ENSP00000420778:D263N;ENSP00000417868:D263N	ENSP00000316173:D263N	D	+	1	0	B3GNT5	184471067	1.000000	0.71417	0.518000	0.27811	0.616000	0.37450	5.650000	0.67944	2.804000	0.96469	0.650000	0.86243	GAT	B3GNT5	-	pfam_Glyco_trans_31	ENSG00000176597		0.443	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	42	0.00	0	G	NM_032047		182988373	182988373	+1	no_errors	ENST00000326505	ensembl	human	known	69_37n	missense	43	18.52	10	SNP	1.000	A
BAZ2B	29994	genome.wustl.edu	37	2	160206643	160206643	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:160206643G>A	ENST00000392783.2	-	28	4934	c.4439C>T	c.(4438-4440)cCt>cTt	p.P1480L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1444L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1446L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1380L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTCTGACTCAGGAGGCATCTT	0.418																																						dbGAP											0													59.0	55.0	56.0					2																	160206643		1908	4133	6041	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4439C>T	2.37:g.160206643G>A	ENSP00000376534:p.Pro1480Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P1480L	ENST00000392783.2	37	c.4439	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398141	0.25205	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	5.85	5.85	0.93711	.	0.214468	0.23204	U	0.050752	T	0.10465	0.0256	M	0.62723	1.935	0.58432	D	0.999998	B;P	0.36483	0.347;0.555	B;B	0.28305	0.069;0.088	T	0.02925	-1.1093	10	0.66056	D	0.02	-6.9122	20.542	0.99273	0.0:0.0:1.0:0.0	.	1444;1480	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	L	1444;1480;1446;1380	ENSP00000376533:P1444L;ENSP00000376534:P1480L;ENSP00000348087:P1446L;ENSP00000339670:P1380L	ENSP00000339670:P1380L	P	-	2	0	BAZ2B	159914889	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	6.713000	0.74686	2.932000	0.99384	0.643000	0.83706	CCT	BAZ2B	-	NULL	ENSG00000123636		0.418	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	36	0.00	0	G			160206643	160206643	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	42	39.13	27	SNP	1.000	A
BBS9	27241	genome.wustl.edu	37	7	33388754	33388754	+	Silent	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:33388754T>C	ENST00000242067.6	+	13	1925	c.1404T>C	c.(1402-1404)acT>acC	p.T468T	BBS9_ENST00000354265.4_Silent_p.T468T|BBS9_ENST00000396127.2_Silent_p.T468T|BBS9_ENST00000355070.2_Silent_p.T468T|BBS9_ENST00000350941.3_Silent_p.T468T	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	468					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TAGAATTGACTTGTGATCAGT	0.323									Bardet-Biedl syndrome																													dbGAP											0													184.0	165.0	171.0					7																	33388754		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1404T>C	7.37:g.33388754T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	NULL	p.T468	ENST00000242067.6	37	c.1404	CCDS43566.1	7																																																																																			BBS9	-	NULL	ENSG00000122507		0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	74	0.00	0	T			33388754	33388754	+1	no_errors	ENST00000242067	ensembl	human	known	69_37n	silent	137	13.84	22	SNP	0.573	C
BCAS1	8537	genome.wustl.edu	37	20	52674691	52674691	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:52674691G>A	ENST00000395961.3	-	3	241	c.75C>T	c.(73-75)gaC>gaT	p.D25D	BCAS1_ENST00000371440.3_Silent_p.D25D|BCAS1_ENST00000411563.1_Intron|BCAS1_ENST00000371435.2_Silent_p.D25D	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	25						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAGACGCGTTGTCCTGAAACA	0.502																																						dbGAP											0													70.0	57.0	61.0					20																	52674691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.75C>T	20.37:g.52674691G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG5|Q68CZ3	Silent	SNP	NULL	p.D25	ENST00000395961.3	37	c.75	CCDS13444.1	20																																																																																			BCAS1	-	NULL	ENSG00000064787		0.502	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	20	0.00	0	G	NM_003657		52674691	52674691	-1	no_errors	ENST00000371440	ensembl	human	known	69_37n	silent	25	30.56	11	SNP	0.000	A
BCORL1	63035	genome.wustl.edu	37	X	129146580	129146580	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:129146580C>G	ENST00000218147.7	+	3	310	c.113C>G	c.(112-114)tCa>tGa	p.S38*	BCORL1_ENST00000359304.2_Nonsense_Mutation_p.S38*|BCORL1_ENST00000540052.1_Nonsense_Mutation_p.S38*|BCORL1_ENST00000303743.5_Nonsense_Mutation_p.S38*			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	38					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GATGAGGAGTCAACGACAGGC	0.512																																						dbGAP											0													172.0	155.0	161.0					X																	129146580		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.113C>G	X.37:g.129146580C>G	ENSP00000218147:p.Ser38*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S38*	ENST00000218147.7	37	c.113	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209210	0.79240	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	.	.	.	5.42	3.62	0.41486	.	0.238074	0.21872	N	0.067876	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.9014	15.2819	0.73790	0.0:0.7429:0.2571:0.0	.	.	.	.	X	38	.	ENSP00000218147:S38X	S	+	2	0	BCORL1	128974261	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.463000	0.53050	0.459000	0.27016	-0.217000	0.12591	TCA	BCORL1	-	NULL	ENSG00000085185		0.512	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	61	0.00	0	C	NM_021946		129146580	129146580	+1	no_errors	ENST00000303743	ensembl	human	known	69_37n	nonsense	86	31.75	40	SNP	1.000	G
BDP1	55814	genome.wustl.edu	37	5	70808186	70808186	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:70808186C>G	ENST00000358731.4	+	18	4441	c.4178C>G	c.(4177-4179)tCt>tGt	p.S1393C	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1393					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTCATGAATCTGATAAAACA	0.333																																						dbGAP											0													86.0	86.0	86.0					5																	70808186		1794	4072	5866	-	-	-	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4178C>G	5.37:g.70808186C>G	ENSP00000351575:p.Ser1393Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.S1393C	ENST00000358731.4	37	c.4178	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	C	11.83	1.757121	0.31137	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.10005	2.92	4.11	-5.21	0.02815	.	1.806680	0.02857	N	0.129840	T	0.09158	0.0226	L	0.29908	0.895	0.09310	N	0.999999	P;P	0.52463	0.768;0.953	B;P	0.48571	0.443;0.582	T	0.23904	-1.0175	10	0.44086	T	0.13	.	0.5698	0.00693	0.4265:0.1988:0.1447:0.2299	.	1393;1393	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	C	1393;973	ENSP00000351575:S1393C	ENSP00000351575:S1393C	S	+	2	0	BDP1	70843942	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-1.093000	0.03362	-0.706000	0.05028	-0.302000	0.09304	TCT	BDP1	-	NULL	ENSG00000145734		0.333	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	39	0.00	0	C	NM_018429		70808186	70808186	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	0.000	G
BNIP2	663	genome.wustl.edu	37	15	59963389	59963389	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:59963389C>T	ENST00000607373.1	-	7	902	c.700G>A	c.(700-702)Gat>Aat	p.D234N	BNIP2_ENST00000267859.3_Missense_Mutation_p.D355N|BNIP2_ENST00000478981.1_5'Flank|BNIP2_ENST00000415213.2_Missense_Mutation_p.D296N|AC092755.4_ENST00000441746.1_RNA	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	234	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						TACCTTCTATCAATTTGCTGA	0.303																																					Ovarian(174;1936 1978 6671 8240 38212)	dbGAP											0													60.0	55.0	57.0					15																	59963389		2189	4289	6478	-	-	-	SO:0001583	missense	0			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.700G>A	15.37:g.59963389C>T	ENSP00000475320:p.Asp234Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DS94	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.D355N	ENST00000607373.1	37	c.1063		15	.	.	.	.	.	.	.	.	.	.	C	35	5.582201	0.96578	.	.	ENSG00000140299	ENST00000267859;ENST00000415213;ENST00000439052	D;D;D	0.84146	-1.81;-1.81;-1.81	5.97	5.97	0.96955	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	M	0.84082	2.675	0.80722	D	1	P;D	0.53745	0.94;0.962	D;P	0.63877	0.919;0.839	D	0.91950	0.5570	9	.	.	.	-18.8332	20.4135	0.99023	0.0:1.0:0.0:0.0	.	234;296	Q12982;Q12982-2	BNIP2_HUMAN;.	N	355;296;112	ENSP00000267859:D355N;ENSP00000412767:D296N;ENSP00000393644:D112N	.	D	-	1	0	BNIP2	57750681	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.835000	0.97688	0.591000	0.81541	GAT	BNIP2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000140299		0.303	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	BNIP2	HGNC	protein_coding	OTTHUMT00000470740.1	56	0.00	0	C	NM_004330		59963389	59963389	-1	no_errors	ENST00000267859	ensembl	human	known	69_37n	missense	81	36.22	46	SNP	1.000	T
BPTF	2186	genome.wustl.edu	37	17	65905793	65905793	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:65905793G>C	ENST00000321892.4	+	12	3347	c.3286G>C	c.(3286-3288)Gat>Cat	p.D1096H	BPTF_ENST00000335221.5_Missense_Mutation_p.D1096H|BPTF_ENST00000424123.3_Missense_Mutation_p.D957H|BPTF_ENST00000306378.6_Missense_Mutation_p.D970H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1096					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCTGAAAAAGATGAGGTAAA	0.343																																						dbGAP											0													52.0	53.0	53.0					17																	65905793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3286G>C	17.37:g.65905793G>C	ENSP00000315454:p.Asp1096His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.D1096H	ENST00000321892.4	37	c.3286		17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086768	0.36855	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62364	0.04;0.03;0.04	6.07	2.66	0.31614	.	.	.	.	.	T	0.45776	0.1359	N	0.14661	0.345	0.23227	N	0.998087	P;P	0.51351	0.926;0.944	P;P	0.47981	0.548;0.563	T	0.26643	-1.0097	9	0.46703	T	0.11	-0.3374	3.317	0.07036	0.2299:0.0:0.5669:0.2032	.	970;1096	Q12830-2;Q12830-4	.;.	H	970;1096;1096	ENSP00000307208:D970H;ENSP00000334351:D1096H;ENSP00000315454:D1096H	ENSP00000307208:D970H	D	+	1	0	BPTF	63336255	0.122000	0.22280	0.725000	0.30721	0.979000	0.70002	0.209000	0.17435	0.862000	0.35528	0.655000	0.94253	GAT	BPTF	-	NULL	ENSG00000171634		0.343	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		35	0.00	0	G	NM_182641, NM_004459		65905793	65905793	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	0.622	C
BSN	8927	genome.wustl.edu	37	3	49701937	49701937	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:49701937C>G	ENST00000296452.4	+	9	11804	c.11690C>G	c.(11689-11691)tCc>tGc	p.S3897C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3897					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCGTGTTCTCCAAGATCCTC	0.637																																						dbGAP											0													53.0	61.0	58.0					3																	49701937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11690C>G	3.37:g.49701937C>G	ENSP00000296452:p.Ser3897Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.S3897C	ENST00000296452.4	37	c.11690	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346514	0.41599	.	.	ENSG00000164061	ENST00000296452	T	0.25579	1.79	5.04	5.04	0.67666	.	0.228496	0.37623	N	0.002004	T	0.48519	0.1504	L	0.53249	1.67	0.46774	D	0.99919	D	0.89917	1.0	D	0.87578	0.998	T	0.49916	-0.8888	10	0.87932	D	0	-16.8267	18.0176	0.89246	0.0:1.0:0.0:0.0	.	3897	Q9UPA5	BSN_HUMAN	C	3897	ENSP00000296452:S3897C	ENSP00000296452:S3897C	S	+	2	0	BSN	49676941	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.946000	0.70234	2.339000	0.79563	0.561000	0.74099	TCC	BSN	-	NULL	ENSG00000164061		0.637	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	30	0.00	0	C	NM_003458		49701937	49701937	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	missense	11	73.81	31	SNP	1.000	G
BTBD19	149478	genome.wustl.edu	37	1	45275974	45275974	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:45275974T>G	ENST00000450269.1	+	2	515	c.176T>G	c.(175-177)cTt>cGt	p.L59R	BTBD19_ENST00000409335.2_Missense_Mutation_p.L59R|BTBD19_ENST00000453418.1_Missense_Mutation_p.L59R	NM_001136537.1	NP_001130009.1	C9JJ37	BTBDJ_HUMAN	BTB (POZ) domain containing 19	59	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|endometrium(1)	2						TTCCAGCGACTTCTGGGCACA	0.567																																						dbGAP											0													63.0	56.0	58.0					1																	45275974		692	1591	2283	-	-	-	SO:0001583	missense	0					1p34.1	2013-01-08			ENSG00000222009	ENSG00000222009		"""BTB/POZ domain containing"""	27145	protein-coding gene	gene with protein product							Standard	NM_001136537		Approved		uc010ole.1	C9JJ37	OTTHUMG00000008493	ENST00000450269.1:c.176T>G	1.37:g.45275974T>G	ENSP00000395461:p.Leu59Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E384|B7ZC36|B7ZC37	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.L59R	ENST00000450269.1	37	c.176		1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532031	0.64972	.	.	ENSG00000222009	ENST00000450269;ENST00000453418;ENST00000409335	T;T;T	0.73575	-0.76;-0.76;-0.76	5.1	3.98	0.46160	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	D	0.82444	0.5038	M	0.73962	2.25	0.27732	N	0.944762	D	0.59357	0.985	P	0.61070	0.883	T	0.74475	-0.3653	9	0.87932	D	0	-18.8007	9.5126	0.39087	0.0:0.0827:0.0:0.9173	.	59	C9JJ37	BTBDJ_HUMAN	R	59	ENSP00000395461:L59R;ENSP00000405193:L59R;ENSP00000386506:L59R	ENSP00000386506:L59R	L	+	2	0	BTBD19	45048561	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.952000	0.56691	1.911000	0.55334	0.459000	0.35465	CTT	BTBD19	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000222009		0.567	BTBD19-201	KNOWN	basic|appris_principal	protein_coding	BTBD19	HGNC	protein_coding		45	0.00	0	T	NM_001136537		45275974	45275974	+1	no_errors	ENST00000450269	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	1.000	G
CCDC7	79741	genome.wustl.edu	37	10	32974906	32974906	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:32974906G>A	ENST00000375030.2	+	7	694	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	C10orf68_ENST00000375028.3_Missense_Mutation_p.E32K|C10orf68_ENST00000375025.4_Missense_Mutation_p.E18K			Q9H943	CJ068_HUMAN		18										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGCTCATAATGAAGTACCAAA	0.289																																						dbGAP											0													57.0	57.0	57.0					10																	32974906		2203	4294	6497	-	-	-	SO:0001583	missense	0																														ENST00000375030.2:c.76G>A	10.37:g.32974906G>A	ENSP00000364170:p.Glu26Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.E18K	ENST00000375030.2	37	c.52		10	.	.	.	.	.	.	.	.	.	.	.	13.99	2.402721	0.42613	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.31247	1.54;1.5;1.55;1.52	3.38	-1.87	0.07737	.	.	.	.	.	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	B;B;B	0.20988	0.05;0.05;0.05	B;B;B	0.20184	0.028;0.028;0.028	T	0.26052	-1.0114	9	0.62326	D	0.03	.	8.5925	0.33697	0.3005:0.0:0.6995:0.0	.	18;32;26	Q9H943;A2A3B4;A2A3D6	CJ068_HUMAN;.;.	K	18;26;32;18;4	ENSP00000303710:E18K;ENSP00000364170:E26K;ENSP00000364168:E32K;ENSP00000364165:E18K	ENSP00000303710:E18K	E	+	1	0	C10orf68	33014912	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.385000	0.02540	-0.388000	0.07797	0.585000	0.79938	GAA	C10orf68	-	NULL	ENSG00000150076		0.289	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	29	0.00	0	G			32974906	32974906	+1	no_errors	ENST00000375025	ensembl	human	known	69_37n	missense	22	57.69	30	SNP	0.000	A
ACSM6	142827	genome.wustl.edu	37	10	96974700	96974700	+	Missense_Mutation	SNP	G	G	T	rs553521145		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:96974700G>T	ENST00000394005.3	+	7	1096	c.1087G>T	c.(1087-1089)Gac>Tac	p.D363Y	C10orf129_ENST00000430183.1_Intron|C10orf129_ENST00000341686.3_Missense_Mutation_p.D363Y			Q6P461	ACSM6_HUMAN		363					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CACTAAGTTGGACATCTATGA	0.498																																						dbGAP											0													140.0	134.0	136.0					10																	96974700		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000394005.3:c.1087G>T	10.37:g.96974700G>T	ENSP00000377573:p.Asp363Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D363Y	ENST00000394005.3	37	c.1087	CCDS7440.2	10	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085592	0.36758	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.41400	1.0;1.0	0.885	-0.086	0.13683	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.29749	0.0743	L	0.41492	1.28	0.80722	D	1	P	0.37548	0.599	B	0.37943	0.261	T	0.06303	-1.0834	9	0.52906	T	0.07	.	5.4239	0.16415	0.2222:0.0:0.7778:0.0	.	363	Q6P461	ACSM6_HUMAN	Y	389;363;363	ENSP00000340296:D363Y;ENSP00000377573:D363Y	ENSP00000340296:D363Y	D	+	1	0	C10orf129	96964690	1.000000	0.71417	0.048000	0.18961	0.850000	0.48378	1.009000	0.29886	-0.022000	0.13986	-0.591000	0.04113	GAC	C10orf129	-	pfam_AMP-dep_Synth/Lig	ENSG00000173124		0.498	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf129	HGNC	protein_coding	OTTHUMT00000049506.2	42	0.00	0	G			96974700	96974700	+1	no_errors	ENST00000341686	ensembl	human	known	69_37n	missense	35	47.76	32	SNP	1.000	T
C16orf93	90835	genome.wustl.edu	37	16	30771679	30771679	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:30771679C>T	ENST00000543610.1	-	4	1356	c.395G>A	c.(394-396)cGc>cAc	p.R132H	C16orf93_ENST00000541260.1_Missense_Mutation_p.R132H|RNF40_ENST00000324685.6_5'Flank|PHKG2_ENST00000424889.3_3'UTR|RNF40_ENST00000563683.1_5'Flank|PHKG2_ENST00000563588.1_3'UTR|RNF40_ENST00000402121.3_5'Flank|RNF40_ENST00000357890.5_5'Flank|C16orf93_ENST00000545825.1_Missense_Mutation_p.R132H	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	132										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GCCCTGCTGGCGGCAGAAAAT	0.612																																						dbGAP											0													71.0	78.0	76.0					16																	30771679		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.395G>A	16.37:g.30771679C>T	ENSP00000437532:p.Arg132His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	NULL	p.R132H	ENST00000543610.1	37	c.395	CCDS32434.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.64|15.64	2.894382|2.894382	0.52121|0.52121	.|.	.|.	ENSG00000196118|ENSG00000196118	ENST00000535476|ENST00000354963;ENST00000543610;ENST00000545825	.|.	.|.	.|.	4.76|4.76	3.81|3.81	0.43845|0.43845	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.41143|0.41143	0.1146|0.1146	M|M	0.61703|0.61703	1.905|1.905	0.31060|0.31060	N|N	0.714222|0.714222	.|B;B;B	.|0.29232	.|0.238;0.163;0.163	.|B;B;B	.|0.22880	.|0.04;0.042;0.042	T|T	0.51180|0.51180	-0.8738|-0.8738	5|9	.|0.56958	.|D	.|0.05	-15.5634|-15.5634	8.3132|8.3132	0.32084|0.32084	0.0:0.8179:0.0:0.1821|0.0:0.8179:0.0:0.1821	.|.	.|132;95;132	.|F5GX13;A1A4V9-2;A1A4V9	.|.;.;CP093_HUMAN	T|H	29|95;132;132	.|.	.|ENSP00000347050:R95H	A|R	-|-	1|2	0|0	C16orf93|C16orf93	30679180|30679180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	2.499000|2.499000	0.45372|0.45372	1.234000|1.234000	0.43709|0.43709	0.462000|0.462000	0.41574|0.41574	GCC|CGC	C16orf93	-	NULL	ENSG00000196118		0.612	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf93	HGNC	protein_coding	OTTHUMT00000397089.1	35	0.00	0	C	NM_001014979		30771679	30771679	-1	no_errors	ENST00000543610	ensembl	human	known	69_37n	missense	61	19.23	15	SNP	1.000	T
CCDC178	374864	genome.wustl.edu	37	18	30825244	30825244	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr18:30825244C>T	ENST00000383096.3	-	15	1740	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	CCDC178_ENST00000402325.1_Missense_Mutation_p.E520K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E520K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E520K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E520K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E520K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.E520K			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	520																	ATTTTATCTTCCATTTCATCT	0.338																																						dbGAP											0													261.0	198.0	220.0					18																	30825244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1558G>A	18.37:g.30825244C>T	ENSP00000372576:p.Glu520Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.E520K	ENST00000383096.3	37	c.1558	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400758	0.25291	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.89	4.89	0.63831	.	.	.	.	.	T	0.47451	0.1446	L	0.52573	1.65	0.34299	D	0.684104	D;P;D;D;D	0.71674	0.998;0.872;0.998;0.998;0.998	D;P;D;D;D	0.66351	0.943;0.452;0.943;0.943;0.943	T	0.58255	-0.7668	9	0.62326	D	0.03	-14.7918	13.7399	0.62840	0.0:1.0:0.0:0.0	.	520;520;520;520;520	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	K	520	ENSP00000385591:E520K;ENSP00000372576:E520K;ENSP00000300227:E520K;ENSP00000385867:E520K;ENSP00000385234:E520K	ENSP00000300227:E520K	E	-	1	0	C18orf34	29079242	0.834000	0.29399	0.909000	0.35828	0.358000	0.29455	3.183000	0.50918	2.699000	0.92147	0.563000	0.77884	GAA	C18orf34	-	NULL	ENSG00000166960		0.338	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf34	HGNC	protein_coding	OTTHUMT00000255373.2	111	0.00	0	C	NM_198995		30825244	30825244	-1	no_errors	ENST00000406524	ensembl	human	known	69_37n	missense	98	28.99	40	SNP	0.923	T
C1orf192	257177	genome.wustl.edu	37	1	161335346	161335346	+	Silent	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:161335346G>T	ENST00000367974.1	-	4	323	c.318C>A	c.(316-318)tcC>tcA	p.S106S	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	106										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACAGCCCATTGGAGGCCTTGA	0.463																																						dbGAP											0													135.0	140.0	138.0					1																	161335346		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.318C>A	1.37:g.161335346G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.S106	ENST00000367974.1	37	c.318	CCDS30921.1	1																																																																																			C1orf192	-	NULL	ENSG00000188931		0.463	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf192	HGNC	protein_coding	OTTHUMT00000083309.1	29	0.00	0	G	NM_001013625		161335346	161335346	-1	no_errors	ENST00000367974	ensembl	human	known	69_37n	silent	52	13.33	8	SNP	1.000	T
C2orf78	388960	genome.wustl.edu	37	2	74043812	74043812	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:74043812C>T	ENST00000409561.1	+	3	2583	c.2462C>T	c.(2461-2463)tCt>tTt	p.S821F		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	821										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCATCTTGTTCTTCTCTGCAG	0.522																																						dbGAP											0													78.0	76.0	77.0					2																	74043812		1990	4159	6149	-	-	-	SO:0001583	missense	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.2462C>T	2.37:g.74043812C>T	ENSP00000387124:p.Ser821Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S821F	ENST00000409561.1	37	c.2462	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308513	0.40895	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.55588	0.51	4.83	0.778	0.18543	.	0.532996	0.15514	N	0.258418	T	0.41373	0.1156	L	0.40543	1.245	0.09310	N	1	B	0.33857	0.429	B	0.40228	0.323	T	0.40308	-0.9570	10	0.72032	D	0.01	-4.7476	2.0836	0.03640	0.1592:0.506:0.1546:0.1801	.	821	A6NCI8	CB078_HUMAN	F	821;791	ENSP00000387124:S821F	ENSP00000340692:S791F	S	+	2	0	C2orf78	73897320	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	1.100000	0.31025	0.018000	0.15052	0.563000	0.77884	TCT	C2orf78	-	NULL	ENSG00000187833		0.522	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	45	0.00	0	C	NM_001080474		74043812	74043812	+1	no_errors	ENST00000409561	ensembl	human	novel	69_37n	missense	40	52.94	45	SNP	0.002	T
C2orf81	388963	genome.wustl.edu	37	2	74642708	74642708	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:74642708G>A	ENST00000517883.1	-	1	1002	c.311C>T	c.(310-312)tCg>tTg	p.S104L	C2orf81_ENST00000290390.5_Missense_Mutation_p.S172L			A6NN90	CB081_HUMAN	chromosome 2 open reading frame 81	165										endometrium(3)|kidney(1)	4						ACCCATCCACGACCTTCCTAA	0.612																																						dbGAP											0													23.0	26.0	25.0					2																	74642708		692	1591	2283	-	-	-	SO:0001583	missense	0			AC005041, CH471053		2p13.1	2012-08-07			ENSG00000159239	ENSG00000159239			34350	protein-coding gene	gene with protein product						15815621	Standard	NM_001145054		Approved	LOC388963, hCG40743	uc010yrq.1	A6NN90	OTTHUMG00000164184	ENST00000517883.1:c.311C>T	2.37:g.74642708G>A	ENSP00000431103:p.Ser104Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S172L	ENST00000517883.1	37	c.515		2	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485839	0.44147	.	.	ENSG00000159239	ENST00000517883;ENST00000290390;ENST00000518863	.	.	.	4.81	1.9	0.25705	.	1.132410	0.06732	N	0.776879	T	0.36580	0.0972	L	0.50333	1.59	0.09310	N	1	B	0.25521	0.128	B	0.22601	0.04	T	0.29119	-1.0022	9	0.39692	T	0.17	-1.0847	6.6903	0.23167	0.1707:0.1472:0.6821:0.0	.	172	G3XAA6	.	L	104;172;104	.	ENSP00000290390:S172L	S	-	2	0	C2orf81	74496216	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	0.263000	0.18478	0.289000	0.22422	0.561000	0.74099	TCG	C2orf81	-	NULL	ENSG00000159239		0.612	C2orf81-002	PUTATIVE	basic|appris_candidate	protein_coding	C2orf81	HGNC	protein_coding	OTTHUMT00000377683.1	14	0.00	0	G	NM_001145054		74642708	74642708	-1	no_errors	ENST00000290390	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.000	A
TOPAZ1	375337	genome.wustl.edu	37	3	44285072	44285072	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:44285072G>C	ENST00000309765.4	+	2	1242	c.1074G>C	c.(1072-1074)ttG>ttC	p.L358F		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	358						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										AGTCTGAGTTGATGTTGCAAG	0.358																																						dbGAP											0													25.0	22.0	23.0					3																	44285072		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.1074G>C	3.37:g.44285072G>C	ENSP00000310303:p.Leu358Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L358F	ENST00000309765.4	37	c.1074	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538867	0.27475	.	.	ENSG00000173769	ENST00000309765	T	0.19394	2.15	5.31	2.0	0.26442	.	0.372941	0.22305	N	0.061802	T	0.15955	0.0384	L	0.32530	0.975	0.09310	N	1	D	0.54047	0.964	P	0.47430	0.547	T	0.09975	-1.0650	10	0.52906	T	0.07	-1.1532	2.3768	0.04344	0.1818:0.1249:0.5037:0.1895	.	358	Q8N9V7	CC077_HUMAN	F	358	ENSP00000310303:L358F	ENSP00000310303:L358F	L	+	3	2	C3orf77	44260076	0.849000	0.29639	0.055000	0.19348	0.712000	0.41017	0.384000	0.20668	0.605000	0.29947	0.650000	0.86243	TTG	C3orf77	-	NULL	ENSG00000173769		0.358	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf77	HGNC	protein_coding	OTTHUMT00000343247.1	15	0.00	0	G	NM_001145030		44285072	44285072	+1	no_errors	ENST00000309765	ensembl	human	known	69_37n	missense	17	55.26	21	SNP	0.002	C
ZGRF1	55345	genome.wustl.edu	37	4	113461086	113461086	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:113461086C>T	ENST00000505019.1	-	27	6230	c.6105G>A	c.(6103-6105)ttG>ttA	p.L2035L	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		2035						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCCCACAATCAACAAATGCC	0.363																																						dbGAP											0													130.0	120.0	123.0					4																	113461086		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000505019.1:c.6105G>A	4.37:g.113461086C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF	p.L2035	ENST00000505019.1	37	c.6105		4																																																																																			C4orf21	-	NULL	ENSG00000138658		0.363	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	51	0.00	0	C			113461086	113461086	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	silent	29	40.82	20	SNP	1.000	T
SUGCT	79783	genome.wustl.edu	37	7	40535914	40535914	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:40535914T>C	ENST00000335693.4	+	12	1062	c.1039T>C	c.(1039-1041)Tat>Cat	p.Y347H	C7orf10_ENST00000401647.2_Missense_Mutation_p.Y299H|C7orf10_ENST00000309930.5_Missense_Mutation_p.Y347H	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		347					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CAAGTGGTTATATCTTTTTGA	0.393																																						dbGAP											0													107.0	102.0	103.0					7																	40535914		1863	4107	5970	-	-	-	SO:0001583	missense	0																														ENST00000335693.4:c.1039T>C	7.37:g.40535914T>C	ENSP00000338475:p.Tyr347His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.Y347H	ENST00000335693.4	37	c.1039	CCDS55105.1	7	.	.	.	.	.	.	.	.	.	.	C	7.865	0.726915	0.15439	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	T;T;T	0.75938	-0.98;-0.98;-0.98	5.42	-10.1	0.00402	CoA-transferase family III domain (2);	1.421560	0.03991	N	0.294800	T	0.46541	0.1398	N	0.08118	0	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	0.35895	-0.9770	10	0.45353	T	0.12	8.5089	4.3322	0.11069	0.2323:0.4507:0.1496:0.1674	.	299;347;310	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	H	347;299;347	ENSP00000312054:Y347H;ENSP00000385222:Y299H;ENSP00000338475:Y347H	ENSP00000312054:Y347H	Y	+	1	0	C7orf10	40502439	0.000000	0.05858	0.000000	0.03702	0.311000	0.27955	-0.765000	0.04730	-1.881000	0.01123	-1.110000	0.02074	TAT	C7orf10	-	superfamily_CoA-Trfase_III_dom	ENSG00000175600		0.393	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	HGNC	protein_coding	OTTHUMT00000338388.1	65	0.00	0	T			40535914	40535914	+1	no_errors	ENST00000309930	ensembl	human	known	69_37n	missense	98	16.24	19	SNP	0.000	C
STKLD1	169436	genome.wustl.edu	37	9	136262418	136262418	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:136262418T>A	ENST00000371957.3	+	10	1101	c.994T>A	c.(994-996)Tta>Ata	p.L332I	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		332							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCCAGCATTTTAGGTGATGC	0.552																																						dbGAP											0													66.0	51.0	56.0					9																	136262418		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000371957.3:c.994T>A	9.37:g.136262418T>A	ENSP00000361025:p.Leu332Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L332I	ENST00000371957.3	37	c.994	CCDS35169.1	9	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120109	0.56613	.	.	ENSG00000198870	ENST00000371957	T	0.51325	0.71	2.94	-0.808	0.10868	Armadillo-type fold (1);	0.137493	0.32401	N	0.006160	T	0.46229	0.1382	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	P	0.55161	0.77	T	0.44877	-0.9299	10	0.23302	T	0.38	-0.9337	2.9438	0.05839	0.0:0.2772:0.2384:0.4844	.	332	Q8NE28	SGK71_HUMAN	I	332	ENSP00000361025:L332I	ENSP00000361025:L332I	L	+	1	2	C9orf96	135252239	0.000000	0.05858	0.440000	0.26846	0.155000	0.21991	-2.099000	0.01346	-0.175000	0.10725	-0.488000	0.04728	TTA	C9orf96	-	superfamily_ARM-type_fold	ENSG00000198870		0.552	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	HGNC	protein_coding	OTTHUMT00000054855.1	23	0.00	0	T			136262418	136262418	+1	no_errors	ENST00000371957	ensembl	human	known	69_37n	missense	14	48.15	13	SNP	0.579	A
CAMTA1	23261	genome.wustl.edu	37	1	7309651	7309651	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:7309651G>C	ENST00000303635.7	+	5	610	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E135Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AACGACCAGAGAGGACCACAT	0.453			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													121.0	108.0	112.0					1																	7309651		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.403G>C	1.37:g.7309651G>C	ENSP00000306522:p.Glu135Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.E135Q	ENST00000303635.7	37	c.403	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596262	0.86953	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.72394	-0.65;-0.62	5.63	5.63	0.86233	CG-1 (2);	0.081487	0.45867	D	0.000333	D	0.85974	0.5822	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87477	0.2418	10	0.87932	D	0	-21.7548	18.6977	0.91607	0.0:0.0:1.0:0.0	.	135	Q9Y6Y1	CMTA1_HUMAN	Q	135	ENSP00000306522:E135Q;ENSP00000402561:E135Q	ENSP00000306522:E135Q	E	+	1	0	CAMTA1	7232238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.631000	0.98424	2.652000	0.90054	0.655000	0.94253	GAG	CAMTA1	-	pfam_CG-1_dom	ENSG00000171735		0.453	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	41	0.00	0	G	NM_015215		7309651	7309651	+1	no_errors	ENST00000303635	ensembl	human	known	69_37n	missense	51	35.44	28	SNP	1.000	C
CA14	23632	genome.wustl.edu	37	1	150235209	150235209	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:150235209G>A	ENST00000369111.4	+	6	1472	c.502G>A	c.(502-504)Gag>Aag	p.E168K	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	168					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	CCAGGTGGGTGAGACTAAGAA	0.408																																						dbGAP											0													109.0	114.0	112.0					1																	150235209		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.502G>A	1.37:g.150235209G>A	ENSP00000358107:p.Glu168Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TB24|Q8NCF4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.E168K	ENST00000369111.4	37	c.502	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546067	0.86022	.	.	ENSG00000118298	ENST00000369111	T	0.67345	-0.26	6.17	6.17	0.99709	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.158428	0.56097	D	0.000032	T	0.40546	0.1121	L	0.27944	0.81	0.58432	D	0.999995	P	0.39940	0.696	B	0.37304	0.246	T	0.39603	-0.9606	10	0.12766	T	0.61	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	168	Q9ULX7	CAH14_HUMAN	K	168	ENSP00000358107:E168K	ENSP00000358107:E168K	E	+	1	0	CA14	148501833	0.997000	0.39634	0.944000	0.38274	0.998000	0.95712	3.700000	0.54786	2.941000	0.99782	0.655000	0.94253	GAG	CA14	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000118298		0.408	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	24	0.00	0	G	NM_012113		150235209	150235209	+1	no_errors	ENST00000369111	ensembl	human	known	69_37n	missense	35	31.37	16	SNP	0.892	A
CAPN6	827	genome.wustl.edu	37	X	110491214	110491214	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:110491214C>T	ENST00000324068.1	-	11	1658	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	CAPN6_ENST00000541758.1_Silent_p.L242L	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	497					microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGTCCAGAGTCAGTTCCCTAG	0.428																																						dbGAP											0													183.0	172.0	176.0					X																	110491214		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1491G>A	X.37:g.110491214C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L497	ENST00000324068.1	37	c.1491	CCDS14555.1	X																																																																																			CAPN6	-	superfamily_Calpain_domain_III	ENSG00000077274		0.428	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	46	0.00	0	C			110491214	110491214	-1	no_errors	ENST00000324068	ensembl	human	known	69_37n	silent	56	18.84	13	SNP	1.000	T
CASK	8573	genome.wustl.edu	37	X	41390311	41390311	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:41390311G>C	ENST00000378163.1	-	25	2943	c.2469C>G	c.(2467-2469)atC>atG	p.I823M	CASK_ENST00000361962.4_Missense_Mutation_p.I806M|CASK_ENST00000442742.2_Missense_Mutation_p.I795M|CASK_ENST00000318588.9_Missense_Mutation_p.I818M|CASK_ENST00000378166.4_Missense_Mutation_p.I818M|CASK_ENST00000421587.2_Missense_Mutation_p.I794M|CASK_ENST00000378158.1_Missense_Mutation_p.I806M			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	823	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GGATCTTCCGGATGGTCTCCA	0.512																																					NSCLC(42;104 1086 3090 27189 35040)	dbGAP											0													227.0	147.0	174.0					X																	41390311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2469C>G	X.37:g.41390311G>C	ENSP00000367405:p.Ile823Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.I823M	ENST00000378163.1	37	c.2469		X	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233835	0.58886	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	4.74	2.4	0.29515	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.50627	D	0.000117	T	0.74245	0.3691	H	0.94423	3.535	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.678;1.0;1.0;0.999	D;P;D;D;D	0.97110	0.999;0.847;0.997;1.0;0.995	T	0.73206	-0.4056	10	0.87932	D	0	.	4.3512	0.11157	0.1514:0.0:0.2893:0.5593	.	794;795;818;823;415	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	M	794;818;806;823;415;278;806;818;795	ENSP00000400526:I794M;ENSP00000322727:I818M;ENSP00000354641:I806M;ENSP00000367405:I823M;ENSP00000367421:I415M;ENSP00000367410:I278M;ENSP00000367400:I806M;ENSP00000367408:I818M;ENSP00000398007:I795M	ENSP00000322727:I818M	I	-	3	3	CASK	41275255	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.000000	0.40816	0.812000	0.34326	0.513000	0.50165	ATC	CASK	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000147044		0.512	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	46	0.00	0	G	NM_003688		41390311	41390311	-1	no_errors	ENST00000378163	ensembl	human	known	69_37n	missense	68	36.94	41	SNP	1.000	C
CAPN6	827	genome.wustl.edu	37	X	110494949	110494949	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:110494949C>T	ENST00000324068.1	-	6	888	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	241	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTTTCAACTTCTTGCTCCTCC	0.443																																						dbGAP											0													224.0	217.0	219.0					X																	110494949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.721G>A	X.37:g.110494949C>T	ENSP00000317214:p.Glu241Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E241K	ENST00000324068.1	37	c.721	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646080	0.87958	.	.	ENSG00000077274	ENST00000324068	D	0.91894	-2.93	6.17	5.27	0.74061	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97320	0.9943	10	0.87932	D	0	.	12.9614	0.58460	0.0:0.8257:0.1743:0.0	.	241	Q9Y6Q1	CAN6_HUMAN	K	241	ENSP00000317214:E241K	ENSP00000317214:E241K	E	-	1	0	CAPN6	110381605	.	.	1.000000	0.80357	0.985000	0.73830	.	.	2.618000	0.88619	0.600000	0.82982	GAA	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000077274		0.443	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	36	0.00	0	C			110494949	110494949	-1	no_errors	ENST00000324068	ensembl	human	known	69_37n	missense	58	24.68	19	SNP	0.934	T
CATSPER3	347732	genome.wustl.edu	37	5	134305689	134305689	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:134305689G>C	ENST00000282611.6	+	2	245	c.159G>C	c.(157-159)aaG>aaC	p.K53N	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	53					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTCTTTAAGATAATTATGA	0.398																																						dbGAP											0													216.0	195.0	202.0					5																	134305689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.159G>C	5.37:g.134305689G>C	ENSP00000282611:p.Lys53Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XS6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.K53N	ENST00000282611.6	37	c.159	CCDS4181.1	5	.	.	.	.	.	.	.	.	.	.	G	7.017	0.557852	0.13436	.	.	ENSG00000152705	ENST00000282611	D	0.97209	-4.29	5.53	2.25	0.28309	.	1.288610	0.05331	N	0.528356	D	0.91150	0.7213	N	0.14661	0.345	0.09310	N	1	B	0.33694	0.421	B	0.27500	0.08	D	0.86163	0.1595	10	0.23891	T	0.37	-1.5159	5.6874	0.17811	0.215:0.1623:0.6227:0.0	.	53	Q86XQ3	CTSR3_HUMAN	N	53	ENSP00000282611:K53N	ENSP00000282611:K53N	K	+	3	2	CATSPER3	134333588	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.190000	0.17057	0.810000	0.34279	0.558000	0.71614	AAG	CATSPER3	-	NULL	ENSG00000152705		0.398	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER3	HGNC	protein_coding	OTTHUMT00000251191.2	93	0.00	0	G	NM_178019		134305689	134305689	+1	no_errors	ENST00000282611	ensembl	human	known	69_37n	missense	69	23.08	21	SNP	0.000	C
CATSPERG	57828	genome.wustl.edu	37	19	38858194	38858194	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:38858194C>T	ENST00000409235.3	+	24	2931	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F	CATSPERG_ENST00000410018.1_Missense_Mutation_p.S899F|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	939					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGGAGACTCCGGCAGTTTC	0.557																																						dbGAP											0													257.0	281.0	273.0					19																	38858194		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2816C>T	19.37:g.38858194C>T	ENSP00000386962:p.Ser939Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.S939F	ENST00000409235.3	37	c.2816	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465969	0.63625	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.51071	0.72;0.72	4.22	4.22	0.49857	.	0.000000	0.41712	U	0.000838	T	0.56187	0.1968	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.962	T	0.60172	-0.7315	10	0.87932	D	0	-15.2651	12.0862	0.53698	0.0:1.0:0.0:0.0	.	939;899	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	F	899;939;939	ENSP00000387057:S899F;ENSP00000386962:S939F	ENSP00000386962:S939F	S	+	2	0	CATSPERG	43550034	0.957000	0.32711	0.617000	0.29091	0.951000	0.60555	4.636000	0.61339	1.876000	0.54355	0.491000	0.48974	TCC	CATSPERG	-	NULL	ENSG00000099338		0.557	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	69	0.00	0	C	NM_021185		38858194	38858194	+1	no_errors	ENST00000409235	ensembl	human	known	69_37n	missense	76	25.49	26	SNP	0.749	T
CCDC129	223075	genome.wustl.edu	37	7	31617842	31617842	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:31617842G>T	ENST00000407970.3	+	8	1002	c.964G>T	c.(964-966)Gat>Tat	p.D322Y	CCDC129_ENST00000409210.1_Missense_Mutation_p.D230Y|CCDC129_ENST00000451887.2_Missense_Mutation_p.D348Y|CCDC129_ENST00000319386.3_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	322										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCAAGCCTGTGATGATTTGCT	0.498																																						dbGAP											0													75.0	75.0	75.0					7																	31617842		2084	4231	6315	-	-	-	SO:0001583	missense	0			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.964G>T	7.37:g.31617842G>T	ENSP00000384416:p.Asp322Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	NULL	p.D348Y	ENST00000407970.3	37	c.1042	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404126	0.42613	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.20463	2.33;2.32;2.07	5.08	3.25	0.37280	.	.	.	.	.	T	0.31544	0.0800	L	0.60455	1.87	0.09310	N	1	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.59288	0.855;0.855;0.855	T	0.13361	-1.0512	8	.	.	.	6.0E-4	3.7432	0.08539	0.2652:0.1933:0.5415:0.0	.	348;332;322	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	Y	322;348;332;230	ENSP00000384416:D322Y;ENSP00000395835:D348Y;ENSP00000387214:D230Y	.	D	+	1	0	CCDC129	31584367	0.000000	0.05858	0.005000	0.12908	0.140000	0.21249	0.744000	0.26245	1.471000	0.48121	0.655000	0.94253	GAT	CCDC129	-	NULL	ENSG00000180347		0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	32	0.00	0	G	NM_194300		31617842	31617842	+1	no_errors	ENST00000451887	ensembl	human	known	69_37n	missense	53	17.19	11	SNP	0.000	T
CCDC17	149483	genome.wustl.edu	37	1	46088486	46088486	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:46088486C>T	ENST00000528266.1	-	5	824	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	CCDC17_ENST00000421127.2_Missense_Mutation_p.R217Q|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000343901.2_Missense_Mutation_p.R194Q|CCDC17_ENST00000445048.2_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	226										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TTCTGCCTCTCGCCGGGAGCT	0.682																																						dbGAP											0													17.0	17.0	17.0					1																	46088486		2202	4297	6499	-	-	-	SO:0001583	missense	0				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.677G>A	1.37:g.46088486C>T	ENSP00000432172:p.Arg226Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	NULL	p.R194Q	ENST00000528266.1	37	c.581	CCDS44131.2	1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963093	0.34659	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.17054	2.3;2.3;2.3	4.93	-5.81	0.02340	.	1.636100	0.03769	N	0.259428	T	0.12732	0.0309	L	0.43923	1.385	0.09310	N	1	B;B;B	0.20261	0.043;0.017;0.038	B;B;B	0.14578	0.011;0.005;0.008	T	0.29150	-1.0021	10	0.29301	T	0.29	1.05	6.0528	0.19794	0.0:0.2857:0.3446:0.3697	.	226;217;194	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	Q	217;194;226	ENSP00000389415:R217Q;ENSP00000341451:R194Q;ENSP00000432172:R226Q	ENSP00000341451:R194Q	R	-	2	0	CCDC17	45861073	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.639000	0.02011	-0.845000	0.04179	-0.367000	0.07326	CGA	CCDC17	-	NULL	ENSG00000159588		0.682	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC17	HGNC	protein_coding	OTTHUMT00000386833.1	14	0.00	0	C	NM_152500		46088486	46088486	-1	no_errors	ENST00000343901	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.000	T
CCDC50	152137	genome.wustl.edu	37	3	191093368	191093368	+	Intron	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:191093368C>T	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Silent_p.L322L	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.L322L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGCTCCACCTCCATGACGCAG	0.458																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											34.0	35.0	34.0					3																	191093368		2198	4284	6482	-	-	-	SO:0001627	intron_variant	0			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-4580C>T	3.37:g.191093368C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VH7	Silent	SNP	NULL	p.L322	ENST00000392455.3	37	c.966	CCDS33913.1	3																																																																																			CCDC50	-	NULL	ENSG00000152492		0.458	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1	22	0.00	0	C	NM_174908		191093368	191093368	+1	no_errors	ENST00000392456	ensembl	human	known	69_37n	silent	24	44.44	20	SNP	0.000	T
CCDC77	84318	genome.wustl.edu	37	12	521048	521048	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:521048C>T	ENST00000239830.4	+	4	353	c.174C>T	c.(172-174)ctC>ctT	p.L58L	CCDC77_ENST00000422000.1_Silent_p.L26L|CCDC77_ENST00000540180.1_Silent_p.L26L|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Silent_p.L26L	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	58						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CTAAGGAGCTCCTGGAATATT	0.493																																						dbGAP											0													95.0	92.0	93.0					12																	521048		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.174C>T	12.37:g.521048C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDE8	Silent	SNP	NULL	p.L58	ENST00000239830.4	37	c.174	CCDS8503.1	12																																																																																			CCDC77	-	NULL	ENSG00000120647		0.493	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	27	0.00	0	C	NM_032358		521048	521048	+1	no_errors	ENST00000239830	ensembl	human	known	69_37n	silent	33	22.73	10	SNP	0.998	T
CCDC79	283847	genome.wustl.edu	37	16	66819953	66819953	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:66819953T>C	ENST00000558713.2	-	7	613	c.541A>G	c.(541-543)Agt>Ggt	p.S181G	CCDC79_ENST00000432602.1_Missense_Mutation_p.S181G|CCDC79_ENST00000433574.1_Missense_Mutation_p.S181G|CCDC79_ENST00000433154.1_Missense_Mutation_p.S181G|CCDC79_ENST00000415744.1_Missense_Mutation_p.S181G|CCDC79_ENST00000561333.1_5'UTR			Q8NA31	TERB1_HUMAN	coiled-coil domain containing 79	181					meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2)	7						CACAGAGTACTACACACTGAA	0.294																																						dbGAP											0													99.0	82.0	87.0					16																	66819953		692	1587	2279	-	-	-	SO:0001583	missense	0			AK093213		16q22.1	2012-10-03			ENSG00000249961	ENSG00000249961			26675	protein-coding gene	gene with protein product							Standard	NM_001136505		Approved	FLJ35894	uc010viv.2	Q8NA31	OTTHUMG00000133562	ENST00000558713.2:c.541A>G	16.37:g.66819953T>C	ENSP00000462883:p.Ser181Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW1	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb	p.S181G	ENST00000558713.2	37	c.541		16	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847903	0.32699	.	.	ENSG00000177461	ENST00000433154;ENST00000432602;ENST00000433574;ENST00000415744	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.47	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.056768	0.64402	N	0.000002	T	0.42086	0.1187	M	0.66939	2.045	0.33898	D	0.63812	D;B	0.76494	0.999;0.197	D;B	0.65684	0.937;0.062	T	0.55547	-0.8124	10	0.56958	D	0.05	-13.3606	7.7845	0.29085	0.0:0.0725:0.1393:0.7883	.	181;181	Q8NA31;Q8NA31-2	CCD79_HUMAN;.	G	181	ENSP00000463762:S181G;ENSP00000462977:S181G;ENSP00000462037:S181G;ENSP00000462236:S181G	ENSP00000440822:S181G	S	-	1	0	CCDC79	65377454	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.268000	0.58883	0.910000	0.36722	0.533000	0.62120	AGT	CCDC79	-	superfamily_ARM-type_fold	ENSG00000249961		0.294	CCDC79-003	KNOWN	basic|appris_principal	protein_coding	CCDC79	HGNC	protein_coding	OTTHUMT00000418864.2	33	0.00	0	T			66819953	66819953	-1	no_errors	ENST00000433154	ensembl	human	known	69_37n	missense	33	31.25	15	SNP	1.000	C
CCL2	6347	genome.wustl.edu	37	17	32583746	32583746	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:32583746A>G	ENST00000225831.4	+	3	265	c.200A>G	c.(199-201)aAg>aGg	p.K67R	CCL2_ENST00000580907.1_3'UTR|AC005549.3_ENST00000601918.1_5'Flank	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	67					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	CACAGCTTCAAGACCATTGTG	0.522																																						dbGAP											0													98.0	84.0	89.0					17																	32583746		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"""Chemokine ligands"", ""Endogenous ligands"""	10618	protein-coding gene	gene with protein product	"""monocyte chemotactic protein 1, homologous to mouse Sig-je"", ""monocyte chemoattractant protein-1"", ""monocyte chemotactic and activating factor"", ""monocyte secretory protein JE"", ""small inducible cytokine subfamily A (Cys-Cys), member 2"""	158105	"""small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"""	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.200A>G	17.37:g.32583746A>G	ENSP00000225831:p.Lys67Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4V3|Q9UDF3	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.K67R	ENST00000225831.4	37	c.200	CCDS11277.1	17	.	.	.	.	.	.	.	.	.	.	A	12.80	2.047525	0.36085	.	.	ENSG00000108691	ENST00000225831	T	0.04917	3.53	4.97	0.985	0.19779	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.899723	0.09351	N	0.814185	T	0.03783	0.0107	.	.	.	0.23563	N	0.997408	B	0.17038	0.02	B	0.20384	0.029	T	0.48043	-0.9069	9	0.22706	T	0.39	.	3.9356	0.09304	0.3774:0.0:0.1052:0.5173	.	67	P13500	CCL2_HUMAN	R	67	ENSP00000225831:K67R	ENSP00000225831:K67R	K	+	2	0	CCL2	29607859	0.915000	0.31059	0.953000	0.39169	0.955000	0.61496	-0.127000	0.10547	0.346000	0.23899	0.402000	0.26972	AAG	CCL2	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000108691		0.522	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL2	HGNC	protein_coding	OTTHUMT00000256384.2	22	0.00	0	A	NM_002982		32583746	32583746	+1	no_errors	ENST00000225831	ensembl	human	known	69_37n	missense	33	19.51	8	SNP	0.959	G
CCM2	83605	genome.wustl.edu	37	7	45108170	45108170	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:45108170G>A	ENST00000258781.6	+	5	750	c.601G>A	c.(601-603)Gag>Aag	p.E201K	CCM2_ENST00000475551.1_Missense_Mutation_p.E195K|CCM2_ENST00000381112.3_Missense_Mutation_p.E222K|CCM2_ENST00000541586.1_Missense_Mutation_p.E143K|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Intron	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	201	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTGGCTGCAGAGAGCAAGGT	0.627																																						dbGAP											0													84.0	75.0	78.0					7																	45108170		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.601G>A	7.37:g.45108170G>A	ENSP00000258781:p.Glu201Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Missense_Mutation	SNP	pfscan_PTyr_interaction_dom	p.E222K	ENST00000258781.6	37	c.664	CCDS5500.1	7	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119035	0.77323	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000475551;ENST00000381112	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.88	4.88	0.63580	Phosphotyrosine interaction domain (1);	0.231119	0.43919	D	0.000508	T	0.64472	0.2601	M	0.71581	2.175	0.58432	D	0.999997	D;P;P;B	0.63880	0.993;0.59;0.873;0.361	P;B;B;B	0.59761	0.863;0.275;0.298;0.187	T	0.67432	-0.5672	10	0.51188	T	0.08	-12.6167	16.6219	0.84932	0.0:0.0:1.0:0.0	.	164;222;143;201	B7Z8D5;E9PDJ3;F5H551;Q9BSQ5	.;.;.;CCM2_HUMAN	K	201;143;195;222	ENSP00000258781:E201K;ENSP00000444725:E143K;ENSP00000417180:E195K;ENSP00000370503:E222K	ENSP00000258781:E201K	E	+	1	0	CCM2	45074695	1.000000	0.71417	0.920000	0.36463	0.995000	0.86356	9.110000	0.94302	2.268000	0.75426	0.655000	0.94253	GAG	CCM2	-	pfscan_PTyr_interaction_dom	ENSG00000136280		0.627	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCM2	HGNC	protein_coding	OTTHUMT00000251348.1	27	0.00	0	G	NM_031443		45108170	45108170	+1	no_errors	ENST00000381112	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	0.998	A
CCNT1	904	genome.wustl.edu	37	12	49088068	49088068	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:49088068A>G	ENST00000261900.3	-	9	1151	c.929T>C	c.(928-930)gTg>gCg	p.V310A		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	310					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						CAGGGAAGGCACTGCACTTGT	0.483																																						dbGAP											0													122.0	108.0	113.0					12																	49088068		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.929T>C	12.37:g.49088068A>G	ENSP00000261900:p.Val310Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.V310A	ENST00000261900.3	37	c.929	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	A	3.053	-0.194918	0.06259	.	.	ENSG00000129315	ENST00000261900	T	0.46819	0.86	5.49	3.15	0.36227	.	0.206191	0.32106	N	0.006574	T	0.19046	0.0457	N	0.08118	0	0.28255	N	0.925107	B	0.29835	0.258	B	0.18263	0.021	T	0.20240	-1.0281	10	0.07482	T	0.82	-10.0339	7.1649	0.25685	0.7497:0.0:0.2503:0.0	.	310	O60563	CCNT1_HUMAN	A	310	ENSP00000261900:V310A	ENSP00000261900:V310A	V	-	2	0	CCNT1	47374335	0.979000	0.34478	0.999000	0.59377	0.473000	0.32948	0.674000	0.25218	0.917000	0.36895	0.402000	0.26972	GTG	CCNT1	-	NULL	ENSG00000129315		0.483	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	68	0.00	0	A	NM_001240		49088068	49088068	-1	no_errors	ENST00000261900	ensembl	human	known	69_37n	missense	41	34.92	22	SNP	0.996	G
CCPG1	9236	genome.wustl.edu	37	15	55651931	55651931	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:55651931G>A	ENST00000310958.6	-	8	2338	c.2040C>T	c.(2038-2040)ttC>ttT	p.F680F	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Silent_p.F680F|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Silent_p.F680F	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	680					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		ACTTATTGATGAACTGATCAA	0.323																																						dbGAP											0													76.0	69.0	71.0					15																	55651931		1824	4076	5900	-	-	-	SO:0001819	synonymous_variant	0			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.2040C>T	15.37:g.55651931G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Silent	SNP	NULL	p.F680	ENST00000310958.6	37	c.2040	CCDS42039.1	15																																																																																			CCPG1	-	NULL	ENSG00000260916		0.323	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	30	0.00	0	G	NM_004748		55651931	55651931	-1	no_errors	ENST00000310958	ensembl	human	known	69_37n	silent	57	17.39	12	SNP	1.000	A
CD163L1	283316	genome.wustl.edu	37	12	7527045	7527045	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:7527045G>C	ENST00000313599.3	-	13	3459	c.3402C>G	c.(3400-3402)atC>atG	p.I1134M	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.I1144M|CD163L1_ENST00000396630.1_Missense_Mutation_p.I1134M			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1134	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACCTGAGCAGATGACCCCTG	0.547																																						dbGAP											0													106.0	91.0	96.0					12																	7527045		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3402C>G	12.37:g.7527045G>C	ENSP00000315945:p.Ile1134Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.I1134M	ENST00000313599.3	37	c.3402	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349733	0.41599	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.37411	1.2;1.2;1.2	2.52	2.52	0.30459	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.744262	0.11517	U	0.556109	T	0.58018	0.2093	M	0.85710	2.77	0.26085	N	0.981038	D;D	0.67145	0.996;0.996	D;D	0.73380	0.973;0.98	T	0.44236	-0.9341	10	0.59425	D	0.04	.	5.3163	0.15856	0.163:0.0:0.837:0.0	.	1144;1134	E7EVK4;Q9NR16	.;C163B_HUMAN	M	1134;1144;1134	ENSP00000315945:I1134M;ENSP00000393474:I1144M;ENSP00000379871:I1134M	ENSP00000315945:I1134M	I	-	3	3	CD163L1	7418312	0.966000	0.33281	0.974000	0.42286	0.858000	0.48976	0.118000	0.15605	1.694000	0.51137	0.462000	0.41574	ATC	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	ENSG00000177675		0.547	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	21	0.00	0	G	NM_174941		7527045	7527045	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	C
CD200R1L	344807	genome.wustl.edu	37	3	112546483	112546483	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:112546483C>A	ENST00000398214.1	-	3	386	c.161G>T	c.(160-162)tGc>tTc	p.C54F	CD200R1L_ENST00000448932.1_Missense_Mutation_p.C33F|CD200R1L_ENST00000488794.1_Missense_Mutation_p.C33F	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	54	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GATAGGAGGGCAACAAAGCAC	0.388																																						dbGAP											0													125.0	117.0	119.0					3																	112546483		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.161G>T	3.37:g.112546483C>A	ENSP00000381272:p.Cys54Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6WHB7	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.C54F	ENST00000398214.1	37	c.161	CCDS43131.1	3	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763729	0.31228	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.62364	0.03;0.03;0.03	3.82	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	M	0.66297	2.02	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62807	-0.6776	10	0.87932	D	0	.	8.9209	0.35610	0.2228:0.7772:0.0:0.0	.	54	Q6Q8B3	MO2R2_HUMAN	F	54;33;33	ENSP00000381272:C54F;ENSP00000418413:C33F;ENSP00000415132:C33F	ENSP00000381272:C54F	C	-	2	0	CD200R1L	114029173	0.726000	0.28059	0.009000	0.14445	0.001000	0.01503	2.468000	0.45102	0.946000	0.37632	-0.218000	0.12543	TGC	CD200R1L	-	NULL	ENSG00000206531		0.388	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD200R1L	HGNC	protein_coding	OTTHUMT00000354365.1	72	0.00	0	C	NM_001008784		112546483	112546483	-1	no_errors	ENST00000398214	ensembl	human	known	69_37n	missense	44	51.65	47	SNP	0.019	A
CD34	947	genome.wustl.edu	37	1	208062855	208062855	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:208062855C>T	ENST00000310833.7	-	5	1030	c.709G>A	c.(709-711)Gag>Aag	p.E237K	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.E79K|CD34_ENST00000537704.1_Missense_Mutation_p.E102K|CD34_ENST00000356522.4_Missense_Mutation_p.E237K	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	237					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGCCTCACCTCAGACTGGGCA	0.617																																						dbGAP											0													69.0	64.0	66.0					1																	208062855		2203	4300	6503	-	-	-	SO:0001583	missense	0			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.709G>A	1.37:g.208062855C>T	ENSP00000310036:p.Glu237Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.E237K	ENST00000310833.7	37	c.709	CCDS31011.1	1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717607	0.68844	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.38	5.38	0.77491	.	0.187214	0.45867	D	0.000340	T	0.51143	0.1657	M	0.74881	2.28	0.47341	D	0.99939	P;D;D;D	0.76494	0.892;0.996;0.994;0.999	P;P;D;D	0.81914	0.652;0.906;0.924;0.995	T	0.53528	-0.8426	10	0.72032	D	0.01	-8.1128	14.6516	0.68800	0.0:1.0:0.0:0.0	.	102;237;237;79	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	K	237;237;79;102;207	ENSP00000310036:E237K;ENSP00000348916:E237K;ENSP00000356003:E79K;ENSP00000442874:E102K	ENSP00000310036:E237K	E	-	1	0	CD34	206129478	0.992000	0.36948	0.964000	0.40570	0.873000	0.50193	3.544000	0.53640	2.520000	0.84964	0.650000	0.86243	GAG	CD34	-	pfam_CD34/Podocalyxin,prints_CD34	ENSG00000174059		0.617	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	38	0.00	0	C	NM_001773		208062855	208062855	-1	no_errors	ENST00000310833	ensembl	human	known	69_37n	missense	70	10.26	8	SNP	0.991	T
CD47	961	genome.wustl.edu	37	3	107776388	107776388	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:107776388C>T	ENST00000361309.5	-	7	918	c.813G>A	c.(811-813)ctG>ctA	p.L271L	CD47_ENST00000471694.1_5'Flank|CD47_ENST00000355354.7_Silent_p.L271L	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	271					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			AACCTGAAATCAGAAGAGGGC	0.308																																						dbGAP											0													88.0	83.0	84.0					3																	107776388		1818	4084	5902	-	-	-	SO:0001819	synonymous_variant	0				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.813G>A	3.37:g.107776388C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K198|D3DN59|Q53Y71|Q96A60	Silent	SNP	pfam_CD47_Vset,pfam_CD47_TM,pfscan_Ig-like	p.L271	ENST00000361309.5	37	c.813	CCDS43126.1	3																																																																																			CD47	-	pfam_CD47_TM	ENSG00000196776		0.308	CD47-004	KNOWN	basic|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102793.1	36	0.00	0	C	NM_001777		107776388	107776388	-1	no_errors	ENST00000361309	ensembl	human	known	69_37n	silent	36	53.85	42	SNP	1.000	T
CD86	942	genome.wustl.edu	37	3	121822403	121822403	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:121822403G>A	ENST00000330540.2	+	3	225	c.109G>A	c.(109-111)Gac>Aac	p.D37N	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.D31N|CD86_ENST00000493101.1_Intron|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000469710.1_5'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	37	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TGAGACTGCAGACCTGCCATG	0.423																																					GBM(67;1379 1389 36064 39806)	dbGAP											0													80.0	80.0	80.0					3																	121822403		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.109G>A	3.37:g.121822403G>A	ENSP00000332049:p.Asp37Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D37N	ENST00000330540.2	37	c.109	CCDS3009.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.66|14.66	2.601531|2.601531	0.46423|0.46423	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000330540;ENST00000482356;ENST00000393627|ENST00000478741	T;T;T|.	0.65549|.	-0.16;-0.16;-0.16|.	5.24|5.24	-1.44|-1.44	0.08856|0.08856	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);|.	0.982101|.	0.08332|.	N|.	0.962150|.	T|T	0.34193|0.34193	0.0889|0.0889	L|L	0.55743|0.55743	1.74|1.74	0.09310|0.09310	N|N	0.999999|0.999999	P|.	0.47106|.	0.89|.	P|.	0.45377|.	0.478|.	T|T	0.34153|0.34153	-0.9840|-0.9840	10|5	0.29301|.	T|.	0.29|.	-0.0033|-0.0033	1.0402|1.0402	0.01557|0.01557	0.1645:0.2522:0.2797:0.3037|0.1645:0.2522:0.2797:0.3037	.|.	37|.	P42081|.	CD86_HUMAN|.	N|K	37;31;31|32	ENSP00000332049:D37N;ENSP00000419116:D31N;ENSP00000377248:D31N|.	ENSP00000332049:D37N|.	D|R	+|+	1|2	0|0	CD86|CD86	123305093|123305093	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.827000|0.827000	0.46813|0.46813	-1.127000|-1.127000	0.03251|0.03251	-0.372000|-0.372000	0.07992|0.07992	-0.176000|-0.176000	0.13171|0.13171	GAC|AGA	CD86	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000114013		0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	CD86	HGNC	protein_coding	OTTHUMT00000355671.1	27	0.00	0	G	NM_006889		121822403	121822403	+1	no_errors	ENST00000330540	ensembl	human	known	69_37n	missense	26	44.68	21	SNP	0.019	A
CDR2	1039	genome.wustl.edu	37	16	22358682	22358682	+	Silent	SNP	G	G	A	rs201108991	byFrequency	TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:22358682G>A	ENST00000268383.2	-	5	1276	c.969C>T	c.(967-969)atC>atT	p.I323I		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	323						cytoplasm (GO:0005737)		p.I323I(1)		endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		GGCCCTTCACGATGTCACTCC	0.577													G|||	9	0.00179712	0.0	0.0	5008	,	,		21096	0.0069		0.001	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											74.0	56.0	62.0					16																	22358682		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.969C>T	16.37:g.22358682G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A8|Q13977	Silent	SNP	NULL	p.I323	ENST00000268383.2	37	c.969	CCDS32404.1	16																																																																																			CDR2	-	NULL	ENSG00000140743		0.577	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2	HGNC	protein_coding	OTTHUMT00000430081.1	42	0.00	0	G			22358682	22358682	-1	no_errors	ENST00000268383	ensembl	human	known	69_37n	silent	23	46.67	21	SNP	0.064	A
CENPE	1062	genome.wustl.edu	37	4	104061023	104061023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:104061023C>A	ENST00000265148.3	-	38	6216	c.6127G>T	c.(6127-6129)Gag>Tag	p.E2043*	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2043					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTCCTTAGCTCATCTCTTTCT	0.358																																						dbGAP											0													159.0	153.0	155.0					4																	104061023		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6127G>T	4.37:g.104061023C>A	ENSP00000265148:p.Glu2043*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E2043*	ENST00000265148.3	37	c.6127	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.428281	0.99667	.	.	ENSG00000138778	ENST00000265148;ENST00000394771	.	.	.	5.29	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.0537	0.19799	0.1522:0.69:0.0:0.1578	.	.	.	.	X	2043	.	ENSP00000265148:E2043X	E	-	1	0	CENPE	104280472	0.304000	0.24472	0.466000	0.27168	0.910000	0.53928	0.559000	0.23485	0.604000	0.29930	-0.195000	0.12781	GAG	CENPE	-	NULL	ENSG00000138778		0.358	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		60	0.00	0	C			104061023	104061023	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	nonsense	68	44.26	54	SNP	0.487	A
CEP250	11190	genome.wustl.edu	37	20	34057805	34057805	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:34057805G>A	ENST00000397527.1	+	10	1662	c.942G>A	c.(940-942)gaG>gaA	p.E314E	CEP250_ENST00000342580.4_Silent_p.E314E|CEP250_ENST00000397524.1_Silent_p.E314E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	314					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGACAGTGGAGATCCTGGTAC	0.453																																						dbGAP											0													84.0	77.0	79.0					20																	34057805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.942G>A	20.37:g.34057805G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	superfamily_Prefoldin	p.E314	ENST00000397527.1	37	c.942	CCDS13255.1	20																																																																																			CEP250	-	NULL	ENSG00000126001		0.453	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	21	0.00	0	G	NM_007186		34057805	34057805	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	silent	36	18.18	8	SNP	1.000	A
CEP250	11190	genome.wustl.edu	37	20	34092674	34092674	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:34092674G>A	ENST00000397527.1	+	30	7197	c.6477G>A	c.(6475-6477)ctG>ctA	p.L2159L	CEP250_ENST00000342580.4_Silent_p.L2103L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2159	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGGCAGCCCTGAGACAGACAG	0.582																																						dbGAP											0													48.0	51.0	50.0					20																	34092674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6477G>A	20.37:g.34092674G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	superfamily_Prefoldin	p.L2159	ENST00000397527.1	37	c.6477	CCDS13255.1	20																																																																																			CEP250	-	NULL	ENSG00000126001		0.582	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	21	0.00	0	G	NM_007186		34092674	34092674	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	silent	20	23.08	6	SNP	1.000	A
CEP85	64793	genome.wustl.edu	37	1	26584203	26584203	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:26584203A>T	ENST00000252992.4	+	5	1150	c.1019A>T	c.(1018-1020)aAa>aTa	p.K340I	CEP85_ENST00000451429.2_Missense_Mutation_p.K289I	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	340						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CTGAAGGAAAAAGAGCTTCTC	0.502																																						dbGAP											0													147.0	138.0	141.0					1																	26584203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1019A>T	1.37:g.26584203A>T	ENSP00000252992:p.Lys340Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Nonsense_Mutation	SNP	NULL	p.K14*	ENST00000252992.4	37	c.40	CCDS277.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.4|21.4	4.141666|4.141666	0.77775|0.77775	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	T;T|.	0.12672|.	2.66;2.66|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.099244|0.099244	0.64402|0.64402	D|D	0.000002|0.000002	T|.	0.66954|.	0.2842|.	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.997;0.998;0.997|.	T|.	0.70107|.	-0.4963|.	10|.	0.87932|0.66056	D|D	0|0.02	-25.0861|-25.0861	10.3349|10.3349	0.43844|0.43844	0.9269:0.0:0.0731:0.0|0.9269:0.0:0.0731:0.0	.|.	289;340;340|.	F8W7K4;Q6P2H3;Q6P2H3-2|.	.;CEP85_HUMAN;.|.	I|X	289;340|14	ENSP00000417002:K289I;ENSP00000252992:K340I|.	ENSP00000252992:K340I|ENSP00000391790:K14X	K|K	+|+	2|1	0|0	CEP85|CEP85	26456790|26456790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.337000|5.337000	0.65941|0.65941	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	AAA|AAG	CEP85	-	NULL	ENSG00000130695		0.502	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	35	0.00	0	A	NM_022778		26584203	26584203	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453146	ensembl	human	known	69_37n	nonsense	32	20.00	8	SNP	1.000	T
CEP350	9857	genome.wustl.edu	37	1	180003096	180003096	+	Silent	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:180003096A>G	ENST00000367607.3	+	16	4243	c.3825A>G	c.(3823-3825)tcA>tcG	p.S1275S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1275	Ser-rich.				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						GAACTTCTTCAGAAAGATCTA	0.458																																						dbGAP											0													127.0	119.0	122.0					1																	180003096		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.3825A>G	1.37:g.180003096A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.S1275	ENST00000367607.3	37	c.3825	CCDS1336.1	1																																																																																			CEP350	-	NULL	ENSG00000135837		0.458	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	40	0.00	0	A	NM_014810		180003096	180003096	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	silent	92	12.38	13	SNP	0.449	G
CEP97	79598	genome.wustl.edu	37	3	101484237	101484237	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:101484237G>A	ENST00000341893.3	+	11	3192	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N	CEP97_ENST00000327230.4_Missense_Mutation_p.D840N|CEP97_ENST00000494050.1_Missense_Mutation_p.D755N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	814					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TACATTGTCTGACGGTGCTTC	0.413																																						dbGAP											0													181.0	174.0	176.0					3																	101484237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.2440G>A	3.37:g.101484237G>A	ENSP00000342510:p.Asp814Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.D840N	ENST00000341893.3	37	c.2518	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093019	0.20471	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.54071	0.73;0.59;0.62	5.96	5.09	0.68999	.	0.920531	0.09312	N	0.819417	T	0.46444	0.1393	L	0.43152	1.355	0.29071	N	0.883306	B;B	0.16396	0.017;0.017	B;B	0.15484	0.007;0.013	T	0.39418	-0.9615	10	0.36615	T	0.2	-0.1247	10.044	0.42175	0.0686:0.0:0.7946:0.1368	.	755;814	E9PG22;Q8IW35	.;CEP97_HUMAN	N	814;840;755	ENSP00000342510:D814N;ENSP00000325881:D840N;ENSP00000418185:D755N	ENSP00000325881:D840N	D	+	1	0	CEP97	102966927	0.935000	0.31712	0.740000	0.30986	0.013000	0.08279	1.259000	0.32956	1.533000	0.49186	-0.140000	0.14226	GAC	CEP97	-	NULL	ENSG00000182504		0.413	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	33	0.00	0	G	NM_024548		101484237	101484237	+1	no_errors	ENST00000327230	ensembl	human	known	69_37n	missense	15	63.41	26	SNP	0.927	A
CES4A	283848	genome.wustl.edu	37	16	67038094	67038094	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:67038094C>G	ENST00000326686.5	+	9	1047	c.1047C>G	c.(1045-1047)gtC>gtG	p.V349V	CES4A_ENST00000540947.2_Silent_p.V349V|CES4A_ENST00000398354.1_Silent_p.V349V|CES4A_ENST00000541479.1_Silent_p.V372V|CES4A_ENST00000540579.1_Silent_p.V251V|CES4A_ENST00000338718.4_Silent_p.V372V|CES4A_ENST00000535696.1_Silent_p.V255V			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	349						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TTCTAGGTGTCAACAACCTGG	0.512																																						dbGAP											0													175.0	169.0	171.0					16																	67038094		2002	4179	6181	-	-	-	SO:0001819	synonymous_variant	0			AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1047C>G	16.37:g.67038094C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V349	ENST00000326686.5	37	c.1047		16																																																																																			CES4A	-	pfam_CarbesteraseB	ENSG00000172824		0.512	CES4A-201	KNOWN	basic|appris_principal	protein_coding	CES4A	HGNC	protein_coding		73	0.00	0	C	NM_173815		67038094	67038094	+1	no_errors	ENST00000326686	ensembl	human	known	69_37n	silent	52	25.71	18	SNP	1.000	G
CHGB	1114	genome.wustl.edu	37	20	5903756	5903756	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:5903756G>A	ENST00000378961.4	+	4	1170	c.966G>A	c.(964-966)ggG>ggA	p.G322G		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	322						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAGTTTAGGGGAAAAGAGGG	0.547																																						dbGAP											0													40.0	43.0	42.0					20																	5903756		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.966G>A	20.37:g.5903756G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	pfam_Granin,prints_Chromogranin_AB	p.G322	ENST00000378961.4	37	c.966	CCDS13092.1	20																																																																																			CHGB	-	pfam_Granin	ENSG00000089199		0.547	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	24	0.00	0	G	NM_001819		5903756	5903756	+1	no_errors	ENST00000378961	ensembl	human	known	69_37n	silent	20	39.39	13	SNP	0.969	A
CHD6	84181	genome.wustl.edu	37	20	40117094	40117094	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:40117094G>A	ENST00000373233.3	-	13	2008	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	611	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|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)				AGACCCTCCAGAAGTTTGCAG	0.438																																						dbGAP											0													147.0	137.0	140.0					20																	40117094		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.1831C>T	20.37:g.40117094G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,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.L611	ENST00000373233.3	37	c.1831	CCDS13317.1	20																																																																																			CHD6	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000124177		0.438	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	55	0.00	0	G			40117094	40117094	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	silent	58	34.09	30	SNP	1.000	A
CHSY3	337876	genome.wustl.edu	37	5	129243966	129243966	+	Silent	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:129243966T>C	ENST00000305031.4	+	2	1357	c.999T>C	c.(997-999)ctT>ctC	p.L333L	CTC-575N7.1_ENST00000515569.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	333					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GTGAATGCCTTAGAGAAATGT	0.507																																						dbGAP											0													171.0	143.0	153.0					5																	129243966		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.999T>C	5.37:g.129243966T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP97|Q76L22|Q86Y52	Silent	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.L333	ENST00000305031.4	37	c.999	CCDS34223.1	5																																																																																			CHSY3	-	pfam_Chond_GalNAc,pfam_Fringe-like	ENSG00000198108		0.507	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	72	0.00	0	T	NM_175856		129243966	129243966	+1	no_errors	ENST00000305031	ensembl	human	known	69_37n	silent	76	21.65	21	SNP	0.059	C
CLCA2	9635	genome.wustl.edu	37	1	86894140	86894140	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:86894140G>A	ENST00000370565.4	+	3	526	c.364G>A	c.(364-366)Gat>Aat	p.D122N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	122	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGCACATGGAGATGATCCATA	0.383																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	dbGAP											0													138.0	121.0	126.0					1																	86894140		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.364G>A	1.37:g.86894140G>A	ENSP00000359596:p.Asp122Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.D122N	ENST00000370565.4	37	c.364	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433661	0.83776	.	.	ENSG00000137975	ENST00000370565;ENST00000439777	T	0.22539	1.95	5.59	4.68	0.58851	Chloride channel calcium-activated (1);	0.056711	0.64402	D	0.000002	T	0.17831	0.0428	M	0.70842	2.15	0.45150	D	0.99816	B	0.33477	0.413	B	0.38616	0.277	T	0.02208	-1.1195	10	0.46703	T	0.11	-16.3808	14.512	0.67794	0.0713:0.0:0.9287:0.0	.	122	Q9UQC9	CLCA2_HUMAN	N	122	ENSP00000359596:D122N	ENSP00000359596:D122N	D	+	1	0	CLCA2	86666728	1.000000	0.71417	0.974000	0.42286	0.906000	0.53458	5.545000	0.67237	1.484000	0.48361	0.655000	0.94253	GAT	CLCA2	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000137975		0.383	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	34	0.00	0	G	NM_006536		86894140	86894140	+1	no_errors	ENST00000370565	ensembl	human	known	69_37n	missense	53	17.19	11	SNP	0.998	A
CLDN10	9071	genome.wustl.edu	37	13	96212695	96212695	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:96212695G>C	ENST00000299339.2	+	3	471	c.442G>C	c.(442-444)Gat>Cat	p.D148H	CLDN10_ENST00000376873.3_Missense_Mutation_p.D146H|CLDN10_ENST00000376855.1_Missense_Mutation_p.D66H	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	148					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			GGAATTCTTTGATCCTCTCTT	0.368																																						dbGAP											0													160.0	149.0	153.0					13																	96212695		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.442G>C	13.37:g.96212695G>C	ENSP00000299339:p.Asp148His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IBF9|Q96N78	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin10,prints_Claudin	p.D148H	ENST00000299339.2	37	c.442	CCDS9476.1	13	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097769	0.76870	.	.	ENSG00000134873	ENST00000376873;ENST00000299339;ENST00000376855	D;D;D	0.89343	-2.5;-2.5;-2.5	5.75	4.9	0.64082	.	0.045214	0.85682	D	0.000000	D	0.94889	0.8348	M	0.89030	3	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77004	0.989;0.989;0.989	D	0.95330	0.8429	10	0.87932	D	0	.	14.207	0.65741	0.0711:0.0:0.9289:0.0	.	148;148;146	Q6IBF9;P78369;Q96N78	.;CLD10_HUMAN;.	H	146;148;66	ENSP00000366069:D146H;ENSP00000299339:D148H;ENSP00000366051:D66H	ENSP00000299339:D148H	D	+	1	0	CLDN10	95010696	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.362000	0.73077	2.701000	0.92244	0.650000	0.86243	GAT	CLDN10	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000134873		0.368	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN10	HGNC	protein_coding	OTTHUMT00000045484.1	67	0.00	0	G	NM_006984		96212695	96212695	+1	no_errors	ENST00000299339	ensembl	human	known	69_37n	missense	161	24.41	52	SNP	1.000	C
CLSTN3	9746	genome.wustl.edu	37	12	7301602	7301602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:7301602G>T	ENST00000266546.6	+	13	2332	c.1882G>T	c.(1882-1884)Gaa>Taa	p.E628*	CLSTN3_ENST00000537408.1_Nonsense_Mutation_p.E640*	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	628					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCCATCCCTGAAGTGGAGGG	0.572																																						dbGAP											0													88.0	68.0	75.0					12																	7301602		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1882G>T	12.37:g.7301602G>T	ENSP00000266546:p.Glu628*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUT6|O94831|Q2T9J5|Q5UE57	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E628*	ENST00000266546.6	37	c.1882	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	43	9.944581	0.99302	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	.	.	.	5.56	5.56	0.83823	.	0.230261	0.44097	D	0.000491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-7.748	19.5349	0.95247	0.0:0.0:1.0:0.0	.	.	.	.	X	628;640	.	ENSP00000266546:E628X	E	+	1	0	CLSTN3	7192869	1.000000	0.71417	0.475000	0.27278	0.644000	0.38419	5.833000	0.69349	2.618000	0.88619	0.561000	0.74099	GAA	CLSTN3	-	NULL	ENSG00000139182		0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	20	0.00	0	G	NM_014718		7301602	7301602	+1	no_errors	ENST00000266546	ensembl	human	known	69_37n	nonsense	14	22.22	4	SNP	0.991	T
CLIP1	6249	genome.wustl.edu	37	12	122861994	122861994	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:122861994G>A	ENST00000540338.1	-	2	640	c.599C>T	c.(598-600)tCa>tTa	p.S200L	CLIP1_ENST00000361654.4_Missense_Mutation_p.S200L|CLIP1_ENST00000537178.1_Missense_Mutation_p.S200L|CLIP1_ENST00000302528.7_Missense_Mutation_p.S200L|CLIP1_ENST00000358808.2_Missense_Mutation_p.S200L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	200	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCCAGCCTCTGAAAGGTTGGA	0.453																																						dbGAP											0													158.0	150.0	153.0					12																	122861994		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.599C>T	12.37:g.122861994G>A	ENSP00000439093:p.Ser200Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.S200L	ENST00000540338.1	37	c.599	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.523274	0.96431	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.74881	2.28	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;1.0;0.799	D;D;D;P	0.97110	0.999;1.0;1.0;0.904	D	0.86701	0.1929	10	0.59425	D	0.04	-7.218	20.0912	0.97820	0.0:0.0:1.0:0.0	.	200;200;200;200	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	L	200;200;45;200;200;200;200	ENSP00000303585:S200L;ENSP00000351665:S200L;ENSP00000445531:S200L;ENSP00000439093:S200L;ENSP00000437786:S200L;ENSP00000441409:S200L	ENSP00000303585:S200L	S	-	2	0	CLIP1	121427947	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	9.612000	0.98347	2.746000	0.94184	0.591000	0.81541	TCA	CLIP1	-	superfamily_CAP-Gly_domain	ENSG00000130779		0.453	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	97	0.00	0	G	NM_002956		122861994	122861994	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	missense	96	21.77	27	SNP	1.000	A
CLTCL1	8218	genome.wustl.edu	37	22	19223377	19223377	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:19223377C>T	ENST00000263200.10	-	6	883	c.811G>A	c.(811-813)Ggt>Agt	p.G271S	CLTCL1_ENST00000427926.1_Missense_Mutation_p.G271S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.G271S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	271	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)					TAAATAACACCATGTTTAGCT	0.413			T	?	ALCL																																	dbGAP		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													77.0	76.0	76.0					22																	19223377		1988	4174	6162	-	-	-	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.811G>A	22.37:g.19223377C>T	ENSP00000445677:p.Gly271Ser	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.G271S	ENST00000263200.10	37	c.811	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355845	0.41700	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.25579	1.79;1.79;1.79	3.74	3.74	0.42951	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	L	0.56340	1.77	0.80722	D	1	B;P	0.35226	0.046;0.491	B;B	0.40038	0.06;0.317	T	0.24119	-1.0169	10	0.51188	T	0.08	-13.045	15.7151	0.77661	0.0:1.0:0.0:0.0	.	271;271	P53675-2;P53675	.;CLH2_HUMAN	S	271	ENSP00000439662:G271S;ENSP00000445677:G271S;ENSP00000441158:G271S	ENSP00000445677:G271S	G	-	1	0	CLTCL1	17603377	1.000000	0.71417	0.936000	0.37596	0.219000	0.24729	6.901000	0.75693	1.909000	0.55274	0.591000	0.81541	GGT	CLTCL1	-	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	42	0.00	0	C	NM_007098		19223377	19223377	-1	no_errors	ENST00000263200	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	1.000	T
CMYA5	202333	genome.wustl.edu	37	5	79027850	79027850	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:79027850G>A	ENST00000446378.2	+	2	3293	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1088					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)		AGATAAATCAGAGAAAGCAGA	0.403																																						dbGAP											0													68.0	63.0	65.0					5																	79027850		1855	4098	5953	-	-	-	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.3262G>A	5.37:g.79027850G>A	ENSP00000394770:p.Glu1088Lys	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.E1088K	ENST00000446378.2	37	c.3262	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	9.325	1.058981	0.19987	.	.	ENSG00000164309	ENST00000446378	T	0.48201	0.82	5.47	4.6	0.57074	.	0.237237	0.29861	N	0.011015	T	0.48484	0.1502	L	0.60455	1.87	0.09310	N	1	P	0.35745	0.518	B	0.37650	0.255	T	0.51450	-0.8704	10	0.87932	D	0	.	14.9061	0.70721	0.0:0.1425:0.8575:0.0	.	1088	Q8N3K9	CMYA5_HUMAN	K	1088	ENSP00000394770:E1088K	ENSP00000394770:E1088K	E	+	1	0	CMYA5	79063606	0.132000	0.22450	0.026000	0.17262	0.002000	0.02628	1.701000	0.37825	1.543000	0.49345	-0.150000	0.13652	GAG	CMYA5	-	NULL	ENSG00000164309		0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	26	0.00	0	G	NM_153610		79027850	79027850	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.086	A
CNOT10	25904	genome.wustl.edu	37	3	32767040	32767040	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:32767040C>G	ENST00000328834.5	+	9	1277	c.961C>G	c.(961-963)Caa>Gaa	p.Q321E	CNOT10_ENST00000331889.6_Missense_Mutation_p.Q321E|CNOT10_ENST00000454516.2_Missense_Mutation_p.Q381E|CNOT10_ENST00000538368.1_Missense_Mutation_p.Q93E|CNOT10_ENST00000463697.1_3'UTR	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	321					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AAAGGCTCTGCAAGAGAATGA	0.433																																						dbGAP											0													114.0	110.0	111.0					3																	32767040		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.961C>G	3.37:g.32767040C>G	ENSP00000330060:p.Gln321Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat	p.Q381E	ENST00000328834.5	37	c.1141	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351131	0.61183	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000540405;ENST00000538368;ENST00000454516	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.52	5.52	0.82312	Tetratricopeptide-like helical (1);	0.052116	0.85682	D	0.000000	T	0.40067	0.1102	N	0.19112	0.55	0.80722	D	1	B;B;P;B	0.34639	0.008;0.016;0.461;0.02	B;B;B;B	0.35182	0.009;0.013;0.197;0.023	T	0.20874	-1.0262	10	0.11485	T	0.65	-14.1133	19.4425	0.94827	0.0:1.0:0.0:0.0	.	381;321;320;321	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	E	321;321;221;93;381	ENSP00000329376:Q321E;ENSP00000330060:Q321E;ENSP00000442552:Q93E;ENSP00000399862:Q381E	ENSP00000330060:Q321E	Q	+	1	0	CNOT10	32742044	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	7.390000	0.79816	2.594000	0.87642	0.655000	0.94253	CAA	CNOT10	-	pfam_TPR-1,smart_TPR_repeat	ENSG00000182973		0.433	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	HGNC	protein_coding	OTTHUMT00000253248.2	45	0.00	0	C	NM_015442		32767040	32767040	+1	no_errors	ENST00000454516	ensembl	human	known	69_37n	missense	21	60.71	34	SNP	1.000	G
CNP	1267	genome.wustl.edu	37	17	40120676	40120676	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:40120676C>T	ENST00000393892.3	+	2	738	c.594C>T	c.(592-594)agC>agT	p.S198S	CNP_ENST00000472031.1_Intron|CNP_ENST00000393888.1_Silent_p.S178S|CNP_ENST00000591072.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	198					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CCAAGAAGAGCTCTGAGACCC	0.592																																						dbGAP											0													23.0	26.0	25.0					17																	40120676		1955	4148	6103	-	-	-	SO:0001819	synonymous_variant	0				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.594C>T	17.37:g.40120676C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase	p.S198	ENST00000393892.3	37	c.594	CCDS11414.2	17																																																																																			CNP	-	pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase	ENSG00000173786		0.592	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNP	HGNC	protein_coding	OTTHUMT00000257443.2	9	0.00	0	C			40120676	40120676	+1	no_errors	ENST00000393892	ensembl	human	known	69_37n	silent	20	20.00	5	SNP	0.570	T
CNTN6	27255	genome.wustl.edu	37	3	1445027	1445027	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:1445027C>A	ENST00000446702.2	+	23	3639	c.3012C>A	c.(3010-3012)ttC>ttA	p.F1004L	CNTN6_ENST00000350110.2_Missense_Mutation_p.F1004L|CNTN6_ENST00000539053.1_Missense_Mutation_p.F932L			Q9UQ52	CNTN6_HUMAN	contactin 6	1004					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAATTCAATTCTTAGAACCTA	0.303																																						dbGAP											0													81.0	79.0	80.0					3																	1445027		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.3012C>A	3.37:g.1445027C>A	ENSP00000407822:p.Phe1004Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F1004L	ENST00000446702.2	37	c.3012	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	c	0.013	-1.626251	0.00813	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.59638	0.25;0.27;0.25	5.09	0.607	0.17564	.	5.953610	0.00481	N	0.000128	T	0.25644	0.0624	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25950	-1.0117	10	0.09338	T	0.73	.	0.5742	0.00701	0.176:0.2745:0.1726:0.3769	.	1004	Q9UQ52	CNTN6_HUMAN	L	1004;932;1004	ENSP00000407822:F1004L;ENSP00000442791:F932L;ENSP00000341882:F1004L	ENSP00000341882:F1004L	F	+	3	2	CNTN6	1420027	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-1.582000	0.02117	0.179000	0.19938	-0.127000	0.14921	TTC	CNTN6	-	NULL	ENSG00000134115		0.303	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	67	0.00	0	C	NM_014461		1445027	1445027	+1	no_errors	ENST00000350110	ensembl	human	known	69_37n	missense	56	51.72	60	SNP	0.000	A
CNTNAP1	8506	genome.wustl.edu	37	17	40838993	40838993	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:40838993G>A	ENST00000264638.4	+	7	1190	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	325	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGGCTGCATAGAAAACGTAAT	0.632																																						dbGAP											0													48.0	44.0	45.0					17																	40838993		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.973G>A	17.37:g.40838993G>A	ENSP00000264638:p.Glu325Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E325K	ENST00000264638.4	37	c.973	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.188321	0.97362	.	.	ENSG00000108797	ENST00000264638	T	0.76709	-1.04	5.53	5.53	0.82687	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.84701	0.5530	L	0.52759	1.655	0.58432	D	0.999999	D	0.76494	0.999	D	0.72075	0.976	T	0.81495	-0.0907	10	0.27082	T	0.32	.	18.438	0.90653	0.0:0.0:1.0:0.0	.	325	P78357	CNTP1_HUMAN	K	325	ENSP00000264638:E325K	ENSP00000264638:E325K	E	+	1	0	CNTNAP1	38092519	1.000000	0.71417	0.865000	0.33974	0.855000	0.48748	9.379000	0.97198	2.588000	0.87417	0.561000	0.74099	GAA	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.632	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	18	0.00	0	G	NM_003632		40838993	40838993	+1	no_errors	ENST00000264638	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	A
COL23A1	91522	genome.wustl.edu	37	5	177676193	177676193	+	Missense_Mutation	SNP	C	C	G	rs372995342		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:177676193C>G	ENST00000390654.3	-	19	1431	c.1074G>C	c.(1072-1074)caG>caC	p.Q358H		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	358	Collagen-like 3.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GGTCTCCTTTCTGTCCTTTGG	0.622																																						dbGAP											0													154.0	159.0	157.0					5																	177676193		1967	4148	6115	-	-	-	SO:0001583	missense	0			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1074G>C	5.37:g.177676193C>G	ENSP00000375069:p.Gln358His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVR4|Q9NT93	Missense_Mutation	SNP	pfam_Collagen	p.Q358H	ENST00000390654.3	37	c.1074	CCDS4436.1	5	.	.	.	.	.	.	.	.	.	.	C	7.460	0.644541	0.14451	.	.	ENSG00000050767	ENST00000390654	D	0.93366	-3.21	5.19	-10.4	0.00318	.	1.346620	0.05271	N	0.517495	D	0.91446	0.7300	L	0.31371	0.925	0.42251	D	0.991972	D	0.61697	0.99	D	0.67103	0.949	D	0.85995	0.1491	10	0.48119	T	0.1	0.8241	7.6297	0.28232	0.3372:0.5352:0.0:0.1276	.	358	Q86Y22	CONA1_HUMAN	H	358	ENSP00000375069:Q358H	ENSP00000375069:Q358H	Q	-	3	2	COL23A1	177608799	0.000000	0.05858	0.299000	0.25016	0.608000	0.37181	-3.643000	0.00405	-1.668000	0.01471	0.313000	0.20887	CAG	COL23A1	-	pfam_Collagen	ENSG00000050767		0.622	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL23A1	HGNC	protein_coding	OTTHUMT00000253475.1	41	0.00	0	C	NM_173465		177676193	177676193	-1	no_errors	ENST00000390654	ensembl	human	known	69_37n	missense	47	38.16	29	SNP	0.074	G
COL6A6	131873	genome.wustl.edu	37	3	130289703	130289703	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:130289703G>A	ENST00000358511.6	+	6	2474	c.2443G>A	c.(2443-2445)Gat>Aat	p.D815N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D815N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	815	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTTTGTCATTGATAGCTCTGG	0.403																																						dbGAP											0													91.0	95.0	94.0					3																	130289703		1886	4133	6019	-	-	-	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2443G>A	3.37:g.130289703G>A	ENSP00000351310:p.Asp815Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D815N	ENST00000358511.6	37	c.2443	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186713	0.57909	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.97976	-4.64;-4.64	4.79	4.79	0.61399	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000027	D	0.98811	0.9599	M	0.90309	3.105	0.35970	D	0.835271	D	0.89917	1.0	D	0.79784	0.993	D	0.99967	1.1889	10	0.66056	D	0.02	.	14.586	0.68326	0.0:0.1469:0.8531:0.0	.	815	A6NMZ7	CO6A6_HUMAN	N	815	ENSP00000351310:D815N;ENSP00000399236:D815N	ENSP00000351310:D815N	D	+	1	0	COL6A6	131772393	1.000000	0.71417	0.514000	0.27761	0.498000	0.33706	7.344000	0.79328	2.366000	0.80165	0.561000	0.74099	GAT	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.403	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	37	0.00	0	G	NM_001102608		130289703	130289703	+1	no_errors	ENST00000358511	ensembl	human	known	69_37n	missense	17	58.54	24	SNP	0.999	A
COQ4	51117	genome.wustl.edu	37	9	131095838	131095838	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:131095838G>A	ENST00000300452.3	+	7	1035	c.712G>A	c.(712-714)Gag>Aag	p.E238K	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119			coenzyme Q4											endometrium(4)|large_intestine(1)|lung(4)	9						CCTGTACTATGAGCGGCGCTG	0.642																																						dbGAP											0													60.0	58.0	59.0					9																	131095838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151850	CCDS6898.1	9q34.2	2013-10-18	2013-10-18		ENSG00000167113	ENSG00000167113			19693	protein-coding gene	gene with protein product		612898	"""coenzyme Q4 homolog (yeast)"", ""coenzyme Q4 homolog (S. cerevisiae)"""			11469793, 18474229	Standard	NM_016035		Approved	CGI-92	uc004bur.4	Q9Y3A0	OTTHUMG00000020743	ENST00000300452.3:c.712G>A	9.37:g.131095838G>A	ENSP00000300452:p.Glu238Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CoenzQ_biosynthesis_Coq4	p.E238K	ENST00000300452.3	37	c.712	CCDS6898.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.546280	0.96488	.	.	ENSG00000167113	ENST00000300452	T	0.67171	-0.25	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87704	0.6244	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90838	0.4721	10	0.66056	D	0.02	-20.6168	18.4386	0.90656	0.0:0.0:1.0:0.0	.	238	Q9Y3A0	COQ4_HUMAN	K	238	ENSP00000300452:E238K	ENSP00000300452:E238K	E	+	1	0	COQ4	130135659	1.000000	0.71417	0.999000	0.59377	0.798000	0.45092	9.088000	0.94132	2.597000	0.87782	0.655000	0.94253	GAG	COQ4	-	pfam_CoenzQ_biosynthesis_Coq4	ENSG00000167113		0.642	COQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ4	HGNC	protein_coding	OTTHUMT00000054427.1	19	0.00	0	G	NM_016035		131095838	131095838	+1	no_errors	ENST00000300452	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	1.000	A
COTL1	23406	genome.wustl.edu	37	16	84623740	84623740	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:84623740C>A	ENST00000262428.4	-	3	451	c.289G>T	c.(289-291)Gac>Tac	p.D97Y	COTL1_ENST00000564057.1_Missense_Mutation_p.D28Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	97	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						AGGGTCTTGTCCGTCCCGGTT	0.602																																						dbGAP											0													98.0	74.0	82.0					16																	84623740		2199	4300	6499	-	-	-	SO:0001583	missense	0			L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.289G>T	16.37:g.84623740C>A	ENSP00000262428:p.Asp97Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDU3|D3DUL9|Q86XM5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.D97Y	ENST00000262428.4	37	c.289	CCDS10947.1	16	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036051	0.93630	.	.	ENSG00000103187	ENST00000262428	T	0.35789	1.29	5.34	5.34	0.76211	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70234	-0.4928	10	0.72032	D	0.01	.	18.0463	0.89334	0.0:1.0:0.0:0.0	.	97	Q14019	COTL1_HUMAN	Y	97	ENSP00000262428:D97Y	ENSP00000262428:D97Y	D	-	1	0	COTL1	83181241	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.300000	0.78841	2.494000	0.84150	0.561000	0.74099	GAC	COTL1	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	ENSG00000103187		0.602	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COTL1	HGNC	protein_coding	OTTHUMT00000269075.1	19	0.00	0	C	NM_021149		84623740	84623740	-1	no_errors	ENST00000262428	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	A
CPAMD8	27151	genome.wustl.edu	37	19	17014404	17014404	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:17014404C>G	ENST00000443236.1	-	34	4609	c.4578G>C	c.(4576-4578)gtG>gtC	p.V1526V		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1479						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						CCTTGGCACTCACAAACAGCC	0.612																																						dbGAP											0													93.0	111.0	105.0					19																	17014404		2033	4177	6210	-	-	-	SO:0001819	synonymous_variant	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.4578G>C	19.37:g.17014404C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC09|Q9ULD7	Nonstop_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.*1537S	ENST00000443236.1	37	c.4610	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	C	9.321	1.058155	0.19987	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.21	0.806	0.18708	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.976	0.30155	0.1595:0.5733:0.2673:0.0	.	.	.	.	S	1537	.	.	X	-	2	2	CPAMD8	16875404	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.921000	0.40035	1.383000	0.46405	0.456000	0.33151	TGA	CPAMD8	-	NULL	ENSG00000160111		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	47	0.00	0	C	NM_015692		17014404	17014404	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443236	ensembl	human	known	69_37n	nonstop	33	40.00	22	SNP	1.000	G
CPS1	1373	genome.wustl.edu	37	2	211455582	211455582	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:211455582C>T	ENST00000233072.5	+	9	1095	c.899C>T	c.(898-900)aCa>aTa	p.T300I	CPS1_ENST00000430249.2_Missense_Mutation_p.T306I|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	300	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AACTTAATAACAGGATTGGCT	0.398																																						dbGAP											0													92.0	100.0	97.0					2																	211455582		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.899C>T	2.37:g.211455582C>T	ENSP00000233072:p.Thr300Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.T306I	ENST00000233072.5	37	c.917	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096361	0.56075	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.87966	-2.32;-2.32	5.82	4.94	0.65067	Carbamoyl-phosphate synthase, GATase domain (1);Glutamine amidotransferase type 1 (2);	0.098719	0.64402	N	0.000001	T	0.75982	0.3924	N	0.10664	0.02	0.80722	D	1	B;B	0.32302	0.363;0.363	B;B	0.31245	0.126;0.126	T	0.76460	-0.2951	10	0.51188	T	0.08	2.8327	14.7489	0.69511	0.0:0.9308:0.0:0.0692	.	310;300	Q59HF8;P31327	.;CPSM_HUMAN	I	306;308;300;300	ENSP00000402608:T306I;ENSP00000233072:T300I	ENSP00000233072:T300I	T	+	2	0	CPS1	211163827	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.685000	0.61693	1.463000	0.47967	0.585000	0.79938	ACA	CPS1	-	pfam_GATASE_1,tigrfam_CarbamoylP_synth_ssu	ENSG00000021826		0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	34	0.00	0	C			211455582	211455582	+1	no_errors	ENST00000430249	ensembl	human	known	69_37n	missense	40	33.33	20	SNP	1.000	T
CPSF3L	54973	genome.wustl.edu	37	1	1250299	1250299	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:1250299C>T	ENST00000435064.1	-	7	689	c.607G>A	c.(607-609)Gag>Aag	p.E203K	CPSF3L_ENST00000421495.2_5'UTR|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E181K|CPSF3L_ENST00000540437.1_Missense_Mutation_p.E209K|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E174K|CPSF3L_ENST00000419704.1_Missense_Mutation_p.E102K|CPSF3L_ENST00000411962.1_Missense_Mutation_p.E105K	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	203					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	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;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TACGTGGACTCTGTGATGAGC	0.632																																						dbGAP											0													83.0	71.0	75.0					1																	1250299		2201	4297	6498	-	-	-	SO:0001583	missense	0			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.607G>A	1.37:g.1250299C>T	ENSP00000413493:p.Glu203Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.E209K	ENST00000435064.1	37	c.625	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.816420	0.90790	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000526332;ENST00000527719	T;T;T;T;T;T;T;T	0.60920	0.24;0.24;0.24;0.24;0.15;0.24;0.26;0.68	5.53	5.53	0.82687	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	H	0.98407	4.225	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	1.0;1.0;0.995;0.999;1.0;1.0	D	0.91577	0.5276	10	0.87932	D	0	-47.0706	19.4626	0.94924	0.0:1.0:0.0:0.0	.	181;174;105;102;209;203	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	K	203;105;102;209;181;174;233;79;209	ENSP00000413493:E203K;ENSP00000404886:E102K;ENSP00000445001:E209K;ENSP00000392848:E181K;ENSP00000444672:E174K;ENSP00000411233:E233K;ENSP00000434790:E79K;ENSP00000436743:E209K	ENSP00000400548:E105K	E	-	1	0	CPSF3L	1240162	1.000000	0.71417	0.954000	0.39281	0.483000	0.33249	7.371000	0.79600	2.601000	0.87937	0.651000	0.88453	GAG	CPSF3L	-	smart_Beta-lactamas-like	ENSG00000127054		0.632	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	42	0.00	0	C	NM_017871		1250299	1250299	-1	no_errors	ENST00000540437	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	T
CREB5	9586	genome.wustl.edu	37	7	28843891	28843891	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:28843891G>A	ENST00000357727.2	+	8	1168	c.778G>A	c.(778-780)Gag>Aag	p.E260K	CREB5_ENST00000396299.2_Missense_Mutation_p.E227K|CREB5_ENST00000396298.2_Missense_Mutation_p.E121K|CREB5_ENST00000409603.1_Missense_Mutation_p.E227K|CREB5_ENST00000396300.2_Missense_Mutation_p.E253K	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	260					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACACATGATGGAGATGATGGG	0.557																																						dbGAP											0													340.0	233.0	269.0					7																	28843891		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.778G>A	7.37:g.28843891G>A	ENSP00000350359:p.Glu260Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.E260K	ENST00000357727.2	37	c.778	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544610	0.86022	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.65549	-0.16;-0.15;-0.13;-0.16;-0.15	5.63	5.63	0.86233	.	0.148584	0.64402	D	0.000012	T	0.51736	0.1692	L	0.36672	1.1	0.80722	D	1	B;B	0.29531	0.247;0.247	B;B	0.25759	0.063;0.063	T	0.49753	-0.8906	10	0.09084	T	0.74	-12.6119	19.7368	0.96210	0.0:0.0:1.0:0.0	.	121;260	B4DU13;Q02930	.;CREB5_HUMAN	K	227;260;253;227;86;121	ENSP00000379593:E227K;ENSP00000350359:E260K;ENSP00000379594:E253K;ENSP00000387197:E227K;ENSP00000379592:E121K	ENSP00000350359:E260K	E	+	1	0	CREB5	28810416	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.460000	0.97641	2.679000	0.91253	0.549000	0.68633	GAG	CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.557	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	108	0.00	0	G	NM_004904		28843891	28843891	+1	no_errors	ENST00000357727	ensembl	human	known	69_37n	missense	56	45.63	47	SNP	1.000	A
CREBBP	1387	genome.wustl.edu	37	16	3900736	3900736	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:3900736C>T	ENST00000262367.5	-	2	1169	c.360G>A	c.(358-360)aaG>aaA	p.K120K	CREBBP_ENST00000382070.3_Silent_p.K120K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	120					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)		TCAGAGGGCTCTTGCCCATGG	0.657			"""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													42.0	42.0	42.0					16																	3900736		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	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.360G>A	16.37:g.3900736C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.K120	ENST00000262367.5	37	c.360	CCDS10509.1	16																																																																																			CREBBP	-	NULL	ENSG00000005339		0.657	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	9	0.00	0	C	NM_004380		3900736	3900736	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	silent	13	50.00	13	SNP	1.000	T
CRYZL1	9946	genome.wustl.edu	37	21	34969637	34969637	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:34969637G>A	ENST00000381554.3	-	10	832	c.747C>T	c.(745-747)atC>atT	p.I249I	AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381540.3_Silent_p.I249I|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000361534.2_Silent_p.I273I|CRYZL1_ENST00000290244.5_Silent_p.I234I	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	249					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						CAAGAAGTGTGATGATATCAT	0.368																																						dbGAP											0													222.0	209.0	213.0					21																	34969637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.747C>T	21.37:g.34969637G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.H193Y	ENST00000381554.3	37	c.577	CCDS13633.2	21	.	.	.	.	.	.	.	.	.	.	G	9.799	1.180044	0.21787	.	.	ENSG00000205758	ENST00000441940;ENST00000440526	.	.	.	5.25	4.37	0.52481	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53415	-0.8442	4	.	.	.	-19.1744	6.2046	0.20595	0.156:0.0:0.6932:0.1509	.	.	.	.	Y	25;193	.	.	H	-	1	0	CRYZL1	33891507	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.449000	0.52950	1.338000	0.45544	-0.142000	0.14014	CAC	CRYZL1	-	smart_PKS_ER	ENSG00000205758		0.368	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZL1	HGNC	protein_coding	OTTHUMT00000141282.2	88	0.00	0	G	NM_145858		34969637	34969637	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000440526	ensembl	human	putative	69_37n	missense	89	53.65	103	SNP	1.000	A
CSMD2	114784	genome.wustl.edu	37	1	34090797	34090797	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:34090797T>A	ENST00000373380.1	-	13	2193	c.1973A>T	c.(1972-1974)aAg>aTg	p.K658M	CSMD2_ENST00000373388.2_De_novo_Start_InFrame|CSMD2_ENST00000373381.4_Missense_Mutation_p.K1785M|CSMD2_ENST00000373377.1_De_novo_Start_InFrame			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1745	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCCAGCCTCTTGCCATAGCG	0.657																																						dbGAP											0													61.0	53.0	55.0					1																	34090797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1973A>T	1.37:g.34090797T>A	ENSP00000362478:p.Lys658Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	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.K1785M	ENST00000373380.1	37	c.5354		1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687251	0.88639	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.68479	-0.33;-0.33	6.17	2.6	0.31112	Complement control module (2);Sushi/SCR/CCP (3);	0.120287	0.52532	D	0.000063	T	0.72526	0.3471	M	0.65320	2	0.80722	D	1	P;P;P	0.51791	0.942;0.942;0.948	P;P;P	0.62649	0.873;0.886;0.905	T	0.68387	-0.5422	10	0.39692	T	0.17	.	6.3789	0.21523	0.0:0.5003:0.0:0.4997	.	658;1745;1785	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	M	1785;658	ENSP00000362479:K1785M;ENSP00000362478:K658M	ENSP00000241312:K1745M	K	-	2	0	CSMD2	33863384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.518000	0.45537	0.580000	0.29522	0.533000	0.62120	AAG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.657	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	19	0.00	0	T	NM_052896		34090797	34090797	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	1.000	A
CSMD2	114784	genome.wustl.edu	37	1	34204850	34204850	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:34204850G>A	ENST00000373381.4	-	15	2435	c.2259C>T	c.(2257-2259)atC>atT	p.I753I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	713	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAGGAAGGAGATGGAGCTGC	0.592																																						dbGAP											0													82.0	80.0	81.0					1																	34204850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2259C>T	1.37:g.34204850G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	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.I753	ENST00000373381.4	37	c.2259		1																																																																																			CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		22	0.00	0	G	NM_052896		34204850	34204850	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	silent	29	19.44	7	SNP	1.000	A
CSDE1	7812	genome.wustl.edu	37	1	115284172	115284172	+	Intron	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:115284172C>G	ENST00000358528.4	-	3	427				CSDE1_ENST00000369530.1_Missense_Mutation_p.K38N|CSDE1_ENST00000438362.2_Missense_Mutation_p.K38N|CSDE1_ENST00000339438.6_Intron|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000534699.1_Intron|CSDE1_ENST00000261443.5_Intron	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGGGTCCTCTTTTGTTTTT	0.443																																						dbGAP											0													241.0	192.0	207.0					1																	115284172		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1-1661G>C	1.37:g.115284172C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot	p.K38N	ENST00000358528.4	37	c.114	CCDS30812.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377097	0.82682	.	.	ENSG00000009307	ENST00000438362;ENST00000369530	.	.	.	5.72	4.8	0.61643	.	0.639115	0.15365	N	0.266189	T	0.39627	0.1085	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.78314	0.981;0.991	T	0.44236	-0.9341	9	0.25751	T	0.34	-28.7749	14.278	0.66194	0.0:0.9263:0.0:0.0737	.	38;38	E9PGZ0;G5E9Q2	.;.	N	38	.	ENSP00000358543:K38N	K	-	3	2	CSDE1	115085695	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.256000	0.65468	1.524000	0.49035	0.650000	0.86243	AAG	CSDE1	-	NULL	ENSG00000009307		0.443	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1	88	0.00	0	C	NM_007158		115284172	115284172	-1	no_errors	ENST00000369530	ensembl	human	known	69_37n	missense	70	24.73	23	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	113326143	113326143	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:113326143C>T	ENST00000297405.5	-	49	7932	c.7688G>A	c.(7687-7689)aGa>aAa	p.R2563K	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2459K|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2493K|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2523K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2563	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					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						ACCTATATATCTTATCCGGAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													108.0	113.0	111.0					8																	113326143		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7688G>A	8.37:g.113326143C>T	ENSP00000297405:p.Arg2563Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Missense_Mutation	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.R2563K	ENST00000297405.5	37	c.7688	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.321891	0.95682	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	5.63	5.63	0.86233	CUB (5);	0.000000	0.85682	D	0.000000	T	0.39860	0.1094	M	0.65975	2.015	0.51012	D	0.999904	P;P;D	0.76494	0.928;0.802;0.999	P;P;D	0.85130	0.737;0.777;0.997	T	0.10177	-1.0641	10	0.10636	T	0.68	.	19.6579	0.95851	0.0:1.0:0.0:0.0	.	2459;2563;2523	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	2523;2563;1833;2459;2493	ENSP00000345799:R2523K;ENSP00000297405:R2563K;ENSP00000341558:R1833K;ENSP00000412263:R2459K;ENSP00000343124:R2493K	ENSP00000297405:R2563K	R	-	2	0	CSMD3	113395319	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.006000	0.70724	2.636000	0.89361	0.579000	0.79373	AGA	CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000164796		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	59	0.00	0	C	NM_052900		113326143	113326143	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	75	32.43	36	SNP	1.000	T
CSPG4	1464	genome.wustl.edu	37	15	75980264	75980264	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:75980264C>T	ENST00000308508.5	-	3	3234	c.3142G>A	c.(3142-3144)Gac>Aac	p.D1048N		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1048	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGCCCGAGTCAGCATCGCTG	0.637																																						dbGAP											0													49.0	52.0	51.0					15																	75980264		2197	4293	6490	-	-	-	SO:0001583	missense	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3142G>A	15.37:g.75980264C>T	ENSP00000312506:p.Asp1048Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	p.D1048N	ENST00000308508.5	37	c.3142	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	25.4	4.633336	0.87660	.	.	ENSG00000173546	ENST00000308508	T	0.48201	0.82	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.70072	0.3182	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74456	-0.3659	10	0.62326	D	0.03	.	17.0533	0.86525	0.0:1.0:0.0:0.0	.	1048	Q6UVK1	CSPG4_HUMAN	N	1048	ENSP00000312506:D1048N	ENSP00000312506:D1048N	D	-	1	0	CSPG4	73767319	1.000000	0.71417	0.544000	0.28141	0.795000	0.44927	7.817000	0.86213	2.253000	0.74438	0.555000	0.69702	GAC	CSPG4	-	NULL	ENSG00000173546		0.637	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	16	0.00	0	C	NM_001897		75980264	75980264	-1	no_errors	ENST00000308508	ensembl	human	known	69_37n	missense	6	53.85	7	SNP	1.000	T
CSPP1	79848	genome.wustl.edu	37	8	68028194	68028194	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:68028194G>C	ENST00000262210.5	+	11	1349	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	CSPP1_ENST00000412460.1_Missense_Mutation_p.E146Q	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	475					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)			ACACTTTGAAGAGATGATACC	0.413																																						dbGAP											0													167.0	160.0	162.0					8																	68028194		1877	4113	5990	-	-	-	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.1318G>C	8.37:g.68028194G>C	ENSP00000262210:p.Glu440Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	NULL	p.E440Q	ENST00000262210.5	37	c.1318	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071645	0.76301	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.34072	1.39;1.38;1.38	5.61	4.68	0.58851	.	0.068217	0.56097	D	0.000025	T	0.55909	0.1950	L	0.56769	1.78	0.33696	D	0.613889	D;D;P;P	0.89917	1.0;1.0;0.946;0.946	D;D;P;P	0.85130	0.997;0.996;0.586;0.586	T	0.66945	-0.5795	10	0.66056	D	0.02	-15.3351	14.9242	0.70862	0.0:0.1438:0.8562:0.0	.	146;440;475;475	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	Q	440;475;146;146	ENSP00000262210:E440Q;ENSP00000415782:E146Q;ENSP00000430092:E146Q	ENSP00000262210:E440Q	E	+	1	0	CSPP1	68190748	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.979000	0.63806	2.657000	0.90304	0.655000	0.94253	GAG	CSPP1	-	NULL	ENSG00000104218		0.413	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	60	0.00	0	G	NM_024790		68028194	68028194	+1	no_errors	ENST00000262210	ensembl	human	known	69_37n	missense	54	45.45	45	SNP	1.000	C
CSRNP3	80034	genome.wustl.edu	37	2	166532849	166532849	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:166532849G>C	ENST00000342316.4	+	4	708	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	CSRNP3_ENST00000409420.1_Missense_Mutation_p.E178Q|CSRNP3_ENST00000314499.7_Missense_Mutation_p.E146Q	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	146					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGTAGAATCAGAAGAAGCCAG	0.413																																						dbGAP											0													182.0	189.0	187.0					2																	166532849		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.436G>C	2.37:g.166532849G>C	ENSP00000344042:p.Glu146Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.E146Q	ENST00000342316.4	37	c.436	CCDS2225.1	2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972945	0.92919	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.77	5.77	0.91146	.	0.049610	0.85682	D	0.000000	T	0.38746	0.1052	L	0.58101	1.795	0.58432	D	0.999999	D	0.71674	0.998	D	0.66979	0.948	T	0.00579	-1.1661	10	0.33141	T	0.24	-15.8117	19.3504	0.94381	0.0:0.0:1.0:0.0	.	146	Q8WYN3	CSRN3_HUMAN	Q	146;153;146;146;178	ENSP00000412081:E146Q;ENSP00000318258:E146Q;ENSP00000344042:E146Q;ENSP00000387195:E178Q	ENSP00000318258:E146Q	E	+	1	0	CSRNP3	166241095	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	7.952000	0.87827	2.885000	0.99019	0.655000	0.94253	GAA	CSRNP3	-	NULL	ENSG00000178662		0.413	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	26	0.00	0	G	NM_024969		166532849	166532849	+1	no_errors	ENST00000314499	ensembl	human	known	69_37n	missense	28	40.43	19	SNP	1.000	C
CT47B1	643311	genome.wustl.edu	37	X	120009245	120009245	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:120009245C>T	ENST00000371311.3	-	1	534	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	94	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						tcctcctcctcttcctccGTC	0.701																																						dbGAP											0													49.0	52.0	51.0					X																	120009245		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.280G>A	X.37:g.120009245C>T	ENSP00000360360:p.Glu94Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM97	Missense_Mutation	SNP	NULL	p.E94K	ENST00000371311.3	37	c.280	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161312	0.57368	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.74	1.74	0.24563	.	.	.	.	.	T	0.47432	0.1445	L	0.32530	0.975	0.09310	N	1	P	0.49696	0.927	D	0.67725	0.953	T	0.21143	-1.0254	8	0.59425	D	0.04	.	6.4377	0.21833	0.0:1.0:0.0:0.0	.	94	P0C2W7	CT47B_HUMAN	K	94	.	ENSP00000360360:E94K	E	-	1	0	CT47B1	119893273	0.007000	0.16637	0.002000	0.10522	0.174000	0.22865	1.806000	0.38892	1.181000	0.42912	0.179000	0.17066	GAG	CT47B1	-	NULL	ENSG00000236446		0.701	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	23	0.00	0	C	NM_001145718		120009245	120009245	-1	no_errors	ENST00000371311	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	0.002	T
CUL7	9820	genome.wustl.edu	37	6	43005599	43005599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:43005599G>A	ENST00000265348.3	-	26	5009	c.4924C>T	c.(4924-4926)Cag>Tag	p.Q1642*	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Nonsense_Mutation_p.Q1726*			Q14999	CUL7_HUMAN	cullin 7	1642					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)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GACAGCACCTGGGGCCGGTCG	0.622																																						dbGAP											0													71.0	61.0	65.0					6																	43005599		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4924C>T	6.37:g.43005599G>A	ENSP00000265348:p.Gln1642*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Nonsense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.Q1726*	ENST00000265348.3	37	c.5176	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	43	10.234927	0.99365	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.52	4.65	0.58169	.	0.171569	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.4134	10.3168	0.43743	0.0743:0.1359:0.7899:0.0	.	.	.	.	X	1642;1726	.	ENSP00000265348:Q1642X	Q	-	1	0	CUL7	43113577	1.000000	0.71417	0.442000	0.26870	0.921000	0.55340	5.902000	0.69869	1.317000	0.45149	0.655000	0.94253	CAG	CUL7	-	smart_Cullin_neddylation_domain	ENSG00000044090		0.622	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	24	0.00	0	G	NM_014780		43005599	43005599	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	nonsense	14	30.00	6	SNP	0.835	A
CWF19L2	143884	genome.wustl.edu	37	11	107288973	107288973	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:107288973C>T	ENST00000282251.5	-	9	1501	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	CWF19L2_ENST00000433523.1_Missense_Mutation_p.E492K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	492							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTGTTCTTCTCATCAACACTC	0.373																																						dbGAP											0													184.0	165.0	171.0					11																	107288973		2201	4298	6499	-	-	-	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1474G>A	11.37:g.107288973C>T	ENSP00000282251:p.Glu492Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.E492K	ENST00000282251.5	37	c.1474	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905818	0.92107	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.39592	1.07;1.07	5.52	5.52	0.82312	.	0.047833	0.85682	D	0.000000	T	0.67011	0.2848	M	0.80746	2.51	0.80722	D	1	D	0.64830	0.994	D	0.66847	0.947	T	0.69540	-0.5118	10	0.62326	D	0.03	-24.728	18.3643	0.90385	0.0:1.0:0.0:0.0	.	492	Q2TBE0	C19L2_HUMAN	K	492	ENSP00000282251:E492K;ENSP00000387533:E492K	ENSP00000282251:E492K	E	-	1	0	CWF19L2	106794183	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.242000	0.65389	2.761000	0.94854	0.591000	0.81541	GAG	CWF19L2	-	NULL	ENSG00000152404		0.373	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	98	0.00	0	C	NM_152434		107288973	107288973	-1	no_errors	ENST00000282251	ensembl	human	known	69_37n	missense	73	36.52	42	SNP	1.000	T
CWF19L2	143884	genome.wustl.edu	37	11	107299925	107299925	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:107299925C>G	ENST00000282251.5	-	8	1060	c.1033G>C	c.(1033-1035)Gaa>Caa	p.E345Q	CWF19L2_ENST00000433523.1_Missense_Mutation_p.E345Q	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	345							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTACACGTTTCTAAAGACCCA	0.348																																						dbGAP											0													101.0	104.0	103.0					11																	107299925		2201	4298	6499	-	-	-	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1033G>C	11.37:g.107299925C>G	ENSP00000282251:p.Glu345Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.E345Q	ENST00000282251.5	37	c.1033	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	C	6.379	0.437973	0.12104	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.23348	1.91;1.91	5.45	4.52	0.55395	.	0.994997	0.08169	N	0.987348	T	0.23133	0.0559	L	0.43701	1.375	0.21553	N	0.999646	B	0.18968	0.032	B	0.14578	0.011	T	0.19353	-1.0308	10	0.33940	T	0.23	-5.4427	7.7302	0.28783	0.0:0.7421:0.1664:0.0915	.	345	Q2TBE0	C19L2_HUMAN	Q	345	ENSP00000282251:E345Q;ENSP00000387533:E345Q	ENSP00000282251:E345Q	E	-	1	0	CWF19L2	106805135	0.105000	0.21958	0.157000	0.22605	0.149000	0.21700	1.823000	0.39062	1.397000	0.46682	0.591000	0.81541	GAA	CWF19L2	-	NULL	ENSG00000152404		0.348	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	68	0.00	0	C	NM_152434		107299925	107299925	-1	no_errors	ENST00000282251	ensembl	human	known	69_37n	missense	54	45.00	45	SNP	0.803	G
CYP26B1	56603	genome.wustl.edu	37	2	72362039	72362039	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:72362039G>C	ENST00000001146.2	-	4	915	c.712C>G	c.(712-714)Cag>Gag	p.Q238E	CYP26B1_ENST00000412253.1_Missense_Mutation_p.Q47E|CYP26B1_ENST00000546307.1_Missense_Mutation_p.Q163E	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	238					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TGCCGAGCCTGAATGCCCTGC	0.627																																						dbGAP											0													86.0	72.0	77.0					2																	72362039		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.712C>G	2.37:g.72362039G>C	ENSP00000001146:p.Gln238Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450	p.Q238E	ENST00000001146.2	37	c.712	CCDS1919.1	2	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523705	0.64747	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307;ENST00000474509	T;T;T;T	0.67345	-0.21;-0.21;-0.21;-0.26	5.11	5.11	0.69529	.	0.061013	0.64402	D	0.000003	T	0.59715	0.2214	L	0.34521	1.04	0.43896	D	0.996522	B;B;B	0.18461	0.009;0.028;0.002	B;B;B	0.23150	0.027;0.044;0.027	T	0.58526	-0.7621	10	0.62326	D	0.03	-12.5524	17.4917	0.87705	0.0:0.0:1.0:0.0	.	163;221;238	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	E	238;47;163;163	ENSP00000001146:Q238E;ENSP00000401465:Q47E;ENSP00000443304:Q163E;ENSP00000430888:Q163E	ENSP00000001146:Q238E	Q	-	1	0	CYP26B1	72215547	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	3.310000	0.51911	2.544000	0.85801	0.655000	0.94253	CAG	CYP26B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000003137		0.627	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP26B1	HGNC	protein_coding	OTTHUMT00000251969.1	32	0.00	0	G	NM_019885		72362039	72362039	-1	no_errors	ENST00000001146	ensembl	human	known	69_37n	missense	33	45.00	27	SNP	1.000	C
CYP2B6	1555	genome.wustl.edu	37	19	41518202	41518202	+	Splice_Site	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:41518202G>C	ENST00000324071.4	+	7	971		c.e7-1		CYP2B6_ENST00000593831.1_Splice_Site|CYP2B6_ENST00000330446.5_Splice_Site	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6						cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TTTCTGTACAGAGAGAGTCTA	0.478																																						dbGAP											0													56.0	47.0	50.0					19																	41518202		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.965-1G>C	19.37:g.41518202G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWP3|Q2V565|Q9UK46	Splice_Site	SNP	-	e7-1	ENST00000324071.4	37	c.965-1	CCDS12570.1	19	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292847	0.23564	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8989	0.63790	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2B6	46210042	1.000000	0.71417	0.976000	0.42696	0.038000	0.13279	7.085000	0.76875	2.115000	0.64714	0.306000	0.20318	.	CYP2B6	-	-	ENSG00000197408		0.478	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	HGNC	protein_coding	OTTHUMT00000463260.1	19	0.00	0	G	NM_000767	Intron	41518202	41518202	+1	no_errors	ENST00000324071	ensembl	human	known	69_37n	splice_site	39	20.41	10	SNP	1.000	C
CYTH3	9265	genome.wustl.edu	37	7	6204633	6204633	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:6204633C>G	ENST00000350796.3	-	13	1278	c.1142G>C	c.(1141-1143)aGa>aCa	p.R381T	CYTH3_ENST00000396741.2_Missense_Mutation_p.R296T|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	382	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GAAGGGATCTCTGCTGATACT	0.507																																						dbGAP											0													233.0	237.0	236.0					7																	6204633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1142G>C	7.37:g.6204633C>G	ENSP00000297044:p.Arg381Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2N8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.R381T	ENST00000350796.3	37	c.1142	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617676	0.46736	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.17213	2.29;2.29	5.66	5.66	0.87406	.	0.087589	0.85682	D	0.000000	T	0.20007	0.0481	M	0.63843	1.955	0.54753	D	0.999985	B;B	0.28667	0.038;0.219	B;B	0.27887	0.038;0.084	T	0.01621	-1.1310	10	0.32370	T	0.25	.	13.639	0.62239	0.0:0.9245:0.0:0.0755	.	296;381	B7Z2V9;O43739-2	.;.	T	381;296	ENSP00000297044:R381T;ENSP00000379967:R296T	ENSP00000297044:R381T	R	-	2	0	CYTH3	6171158	1.000000	0.71417	0.724000	0.30704	0.781000	0.44180	3.143000	0.50608	2.668000	0.90789	0.561000	0.74099	AGA	CYTH3	-	smart_Pleckstrin_homology	ENSG00000008256		0.507	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	44	0.00	0	C	NM_004227		6204633	6204633	-1	no_errors	ENST00000350796	ensembl	human	known	69_37n	missense	104	22.39	30	SNP	1.000	G
CYP51A1	1595	genome.wustl.edu	37	7	91747923	91747923	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:91747923C>A	ENST00000003100.8	-	8	1258	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	CYP51A1_ENST00000450723.1_Missense_Mutation_p.D260Y|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	359					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	AAATTTAGATCCTTGAGCTAA	0.323																																					GBM(70;1100 1190 11592 25836 51397)	dbGAP											0													94.0	94.0	94.0					7																	91747923		2203	4300	6503	-	-	-	SO:0001583	missense	0			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1093G>T	7.37:g.91747923C>A	ENSP00000003100:p.Asp365Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.D365Y	ENST00000003100.8	37	c.1093	CCDS5623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.403179|4.403179	0.83230|0.83230	.|.	.|.	ENSG00000001630|ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723|ENST00000422867	D;D|.	0.86230|.	-2.09;-2.09|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.137984|.	0.64402|.	D|.	0.000004|.	T|T	0.74550|0.74550	0.3731|0.3731	M|M	0.67625|0.67625	2.065|2.065	0.80722|0.80722	D|D	1|1	P;D|.	0.54601|.	0.852;0.967|.	P;P|.	0.57468|.	0.514;0.821|.	T|T	0.73861|0.73861	-0.3849|-0.3849	10|5	0.72032|.	D|.	0.01|.	.|.	18.6928|18.6928	0.91589|0.91589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	305;359|.	B3KRC6;Q16850|.	.;CP51A_HUMAN|.	Y|V	365;305;260|105	ENSP00000003100:D365Y;ENSP00000406757:D260Y|.	ENSP00000003100:D365Y|.	D|G	-|-	1|2	0|0	CYP51A1|CYP51A1	91585859|91585859	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.583000|7.583000	0.82559|0.82559	2.468000|2.468000	0.83385|0.83385	0.655000|0.655000	0.94253|0.94253	GAT|GGA	CYP51A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000001630		0.323	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP51A1	HGNC	protein_coding	OTTHUMT00000253812.4	47	0.00	0	C			91747923	91747923	-1	no_errors	ENST00000003100	ensembl	human	known	69_37n	missense	58	17.14	12	SNP	1.000	A
CYP3A7	1551	genome.wustl.edu	37	7	99315217	99315217	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:99315217C>T	ENST00000336374.2	-	5	366	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	122					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCTTCATCCTCAGCTATAGAG	0.413																																						dbGAP											0													103.0	93.0	96.0					7																	99315217		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.364G>A	7.37:g.99315217C>T	ENSP00000337450:p.Glu122Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D288|Q9H241	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.E122K	ENST00000336374.2	37	c.364	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	C	0.995	-0.692650	0.03303	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.69040	-0.37	3.98	-0.153	0.13403	.	0.101699	0.64402	D	0.000003	T	0.45677	0.1354	N	0.25957	0.775	0.27591	N	0.949278	B	0.13145	0.007	B	0.21708	0.036	T	0.21759	-1.0236	10	0.33940	T	0.23	.	4.6094	0.12395	0.0:0.4457:0.1612:0.393	.	122	P24462	CP3A7_HUMAN	K	122	ENSP00000337450:E122K	ENSP00000292414:E122K	E	-	1	0	CYP3A7	99153153	0.017000	0.18338	0.015000	0.15790	0.023000	0.10783	-0.080000	0.11339	-0.025000	0.13918	-0.467000	0.05162	GAG	CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160870		0.413	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	76	0.00	0	C			99315217	99315217	-1	no_errors	ENST00000336374	ensembl	human	known	69_37n	missense	106	25.87	37	SNP	0.573	T
CYP3A4	1576	genome.wustl.edu	37	7	99366023	99366023	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:99366023C>G	ENST00000336411.2	-	7	807	c.624G>C	c.(622-624)aaG>aaC	p.K208N	RP11-757A13.1_ENST00000608397.1_RNA|CYP3A4_ENST00000354593.2_Missense_Mutation_p.K58N	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	208					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|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)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TTAAAAGCTTCTTGGTGTTTT	0.373																																						dbGAP											0													123.0	118.0	120.0					7																	99366023		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.624G>C	7.37:g.99366023C>G	ENSP00000337915:p.Lys208Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P05184|Q16757|Q9UK50	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.K208N	ENST00000336411.2	37	c.624	CCDS5674.1	7	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009119	0.35415	.	.	ENSG00000160868	ENST00000354593;ENST00000336411;ENST00000544160	T;T	0.69040	-0.37;-0.37	4.33	2.47	0.30058	.	0.185298	0.56097	D	0.000030	T	0.59569	0.2203	L	0.56280	1.765	0.42466	D	0.9928	B;B;B;B;B	0.19706	0.021;0.019;0.038;0.038;0.038	B;B;B;B;B	0.26693	0.059;0.058;0.072;0.072;0.072	T	0.59348	-0.7471	10	0.62326	D	0.03	.	8.5398	0.33386	0.0:0.7965:0.0:0.2035	.	58;135;208;208;208	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	N	58;208;64	ENSP00000346607:K58N;ENSP00000337915:K208N	ENSP00000337915:K208N	K	-	3	2	CYP3A4	99203959	0.633000	0.27181	0.057000	0.19452	0.324000	0.28378	1.098000	0.31000	0.795000	0.33922	0.491000	0.48974	AAG	CYP3A4	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160868		0.373	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	HGNC	protein_coding	OTTHUMT00000345059.1	83	0.00	0	C			99366023	99366023	-1	no_errors	ENST00000336411	ensembl	human	known	69_37n	missense	124	25.30	42	SNP	0.795	G
BRINP1	1620	genome.wustl.edu	37	9	121930379	121930379	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:121930379C>T	ENST00000265922.3	-	8	1730	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	423					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGATGGGGCGCTGGCACAGCG	0.617																																						dbGAP											0													22.0	22.0	22.0					9																	121930379		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1269G>A	9.37:g.121930379C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.Q423	ENST00000265922.3	37	c.1269	CCDS6822.1	9																																																																																			DBC1	-	NULL	ENSG00000078725		0.617	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	25	0.00	0	C	NM_014618		121930379	121930379	-1	no_errors	ENST00000265922	ensembl	human	known	69_37n	silent	20	38.24	13	SNP	1.000	T
DDX11	1663	genome.wustl.edu	37	12	31256307	31256307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:31256307G>T	ENST00000407793.2	+	25	2760	c.2509G>T	c.(2509-2511)Gaa>Taa	p.E837*	DDX11_ENST00000545668.1_Nonsense_Mutation_p.E837*|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.M838I|DDX11_ENST00000228264.6_Missense_Mutation_p.M812I|DDX11_ENST00000350437.4_Missense_Mutation_p.M788I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	837					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACCTGTGCATGAAGGCCGTCA	0.642										Multiple Myeloma(12;0.14)																												dbGAP											0													8.0	10.0	9.0					12																	31256307		2191	4244	6435	-	-	-	SO:0001587	stop_gained	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2509G>T	12.37:g.31256307G>T	ENSP00000384703:p.Glu837*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.E837*	ENST00000407793.2	37	c.2509	CCDS44856.1	12	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	38|38|38	7.008375|7.008375|7.008375	0.97998|0.97998|0.97998	.|.|.	.|.|.	ENSG00000013573|ENSG00000013573|ENSG00000013573	ENST00000407793;ENST00000545668|ENST00000542838;ENST00000228264;ENST00000350437|ENST00000539702	.|D;D;D|.	.|0.91464|.	.|-2.85;-2.85;-2.85|.	3.23|3.23|3.23	3.23|3.23|3.23	0.37069|0.37069|0.37069	.|.|.	.|1.511340|.	.|0.04519|.	.|N|.	.|0.384301|.	.|T|.	.|0.71307|.	.|0.3324|.	M|M|M	0.73753|0.73753|0.73753	2.245|2.245|2.245	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D|.	.|0.69078|.	.|0.997;0.997;0.997|.	.|D;D;D|.	.|0.78314|.	.|0.991;0.99;0.991|.	.|T|.	.|0.72350|.	.|-0.4320|.	.|10|.	0.06757|0.72032|.	T|D|.	0.87|0.01|.	.|.|.	12.0234|12.0234|12.0234	0.53356|0.53356|0.53356	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|812;788;838|.	.|Q96FC9-3;Q96FC9-4;Q96FC9-2|.	.|.;.;.|.	X|I|L	837|838;812;788|104	.|ENSP00000443426:M838I;ENSP00000228264:M812I;ENSP00000309965:M788I|.	ENSP00000384703:E837X|ENSP00000228264:M812I|.	E|M|X	+|+|+	1|3|2	0|0|2	DDX11|DDX11|DDX11	31147574|31147574|31147574	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.652000|0.652000|0.652000	0.38707|0.38707|0.38707	8.518000|8.518000|8.518000	0.90559|0.90559|0.90559	1.632000|1.632000|1.632000	0.50472|0.50472|0.50472	0.505000|0.505000|0.505000	0.49811|0.49811|0.49811	GAA|ATG|TGA	DDX11	-	smart_ATP-dep_Helicase_C	ENSG00000013573		0.642	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	29	0.00	0	G	NM_030653		31256307	31256307	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	nonsense	27	30.77	12	SNP	1.000	T
DDX19A	55308	genome.wustl.edu	37	16	70400064	70400064	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:70400064C>G	ENST00000302243.7	+	8	844	c.681C>G	c.(679-681)ctC>ctG	p.L227L	DDX19A_ENST00000417604.2_Silent_p.L196L|DDX19A_ENST00000443119.2_Silent_p.L137L|RP11-529K1.3_ENST00000567706.1_Silent_p.L228L	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	227	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				GCTCCAAGCTCAAGTTCATTG	0.512																																						dbGAP											0													120.0	106.0	111.0					16																	70400064		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.681C>G	16.37:g.70400064C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPL0|B4DRZ7|Q53FM0	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S145*	ENST00000302243.7	37	c.434	CCDS10889.1	16																																																																																			DDX19A	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000168872		0.512	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19A	HGNC	protein_coding	OTTHUMT00000268967.2	69	0.00	0	C	NM_018332		70400064	70400064	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000575878	ensembl	human	novel	69_37n	nonsense	52	23.94	17	SNP	0.999	G
DDX20	11218	genome.wustl.edu	37	1	112309444	112309444	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:112309444C>G	ENST00000369702.4	+	11	3018	c.2398C>G	c.(2398-2400)Cag>Gag	p.Q800E	DDX20_ENST00000475700.1_Missense_Mutation_p.Q408E	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	800					ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGAATGCTCAGAGACATCC	0.393																																						dbGAP											0													79.0	80.0	79.0					1																	112309444		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.2398C>G	1.37:g.112309444C>G	ENSP00000358716:p.Gln800Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q800E	ENST00000369702.4	37	c.2398	CCDS842.1	1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.293977	0.60086	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.34072	1.38;1.91	5.82	4.83	0.62350	.	0.651319	0.16613	N	0.206829	T	0.20536	0.0494	L	0.60455	1.87	0.80722	D	1	P;B	0.52316	0.952;0.278	B;B	0.40677	0.337;0.057	T	0.03969	-1.0988	9	.	.	.	-16.1283	8.2119	0.31488	0.149:0.7121:0.0:0.1389	.	408;800	E9PJ60;Q9UHI6	.;DDX20_HUMAN	E	800;408	ENSP00000358716:Q800E;ENSP00000435660:Q408E	.	Q	+	1	0	DDX20	112110967	0.951000	0.32395	1.000000	0.80357	0.998000	0.95712	1.415000	0.34748	2.760000	0.94817	0.655000	0.94253	CAG	DDX20	-	NULL	ENSG00000064703		0.393	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX20	HGNC	protein_coding	OTTHUMT00000033063.2	21	0.00	0	C	NM_007204		112309444	112309444	+1	no_errors	ENST00000369702	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.873	G
DDX26B	203522	genome.wustl.edu	37	X	134686019	134686019	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:134686019C>T	ENST00000370752.4	+	8	1341	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	336										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGAACCTTCGCCCTTAACT	0.428																																						dbGAP											0													165.0	132.0	143.0					X																	134686019		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1007C>T	X.37:g.134686019C>T	ENSP00000359788:p.Ser336Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.S336L	ENST00000370752.4	37	c.1007	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004545	0.93287	.	.	ENSG00000165359	ENST00000370752	T	0.30981	1.51	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.72147	-0.4378	10	0.72032	D	0.01	-14.2138	17.5691	0.87930	0.0:1.0:0.0:0.0	.	336	Q5JSJ4	DX26B_HUMAN	L	336	ENSP00000359788:S336L	ENSP00000359788:S336L	S	+	2	0	DDX26B	134513685	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	7.818000	0.86416	2.363000	0.80096	0.600000	0.82982	TCG	DDX26B	-	NULL	ENSG00000165359		0.428	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	55	0.00	0	C	NM_182540		134686019	134686019	+1	no_errors	ENST00000370752	ensembl	human	known	69_37n	missense	78	31.90	37	SNP	0.998	T
DDX47	51202	genome.wustl.edu	37	12	12967130	12967130	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:12967130G>C	ENST00000358007.3	+	2	175	c.153G>C	c.(151-153)caG>caC	p.Q51H	DDX47_ENST00000352940.4_Missense_Mutation_p.Q51H	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	51					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CCAAGATCCAGATTGAAGCTA	0.398																																						dbGAP											0													306.0	288.0	294.0					12																	12967130		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127712	CCDS8655.1, CCDS8656.1	12p13.2	2010-07-06			ENSG00000213782	ENSG00000213782		"""DEAD-boxes"""	18682	protein-coding gene	gene with protein product		615428					Standard	NM_016355		Approved	DKFZp564O176, FLJ30012, HQ0256, RRP3	uc001rax.3	Q9H0S4	OTTHUMG00000168709	ENST00000358007.3:c.153G>C	12.37:g.12967130G>C	ENSP00000350698:p.Gln51His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXP4|G5E955|Q96GM0|Q96NV8|Q9UI98	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q51H	ENST00000358007.3	37	c.153	CCDS8655.1	12	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732227	0.69189	.	.	ENSG00000213782	ENST00000352940;ENST00000358007;ENST00000544400	D;T;D	0.82984	-1.67;1.19;-1.67	5.35	4.47	0.54385	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.063724	0.64402	D	0.000005	D	0.94614	0.8264	H	0.99746	4.745	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.998;1.0;0.996	D	0.94450	0.7666	10	0.87932	D	0	-7.2462	8.6512	0.34035	0.2118:0.0:0.7882:0.0	.	51;51;51;51	B4DYP6;Q9H4E3;G5E955;Q9H0S4	.;.;.;DDX47_HUMAN	H	51	ENSP00000319578:Q51H;ENSP00000350698:Q51H;ENSP00000444000:Q51H	ENSP00000319578:Q51H	Q	+	3	2	DDX47	12858397	1.000000	0.71417	0.987000	0.45799	0.972000	0.66771	1.623000	0.37008	1.496000	0.48567	-0.136000	0.14681	CAG	DDX47	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif	ENSG00000213782		0.398	DDX47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX47	HGNC	protein_coding	OTTHUMT00000400674.1	64	0.00	0	G	NM_016355		12967130	12967130	+1	no_errors	ENST00000358007	ensembl	human	known	69_37n	missense	82	12.63	12	SNP	0.972	C
DENND5B	160518	genome.wustl.edu	37	12	31545556	31545556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:31545556C>A	ENST00000389082.5	-	18	3595	c.3331G>T	c.(3331-3333)Gaa>Taa	p.E1111*	DENND5B_ENST00000536562.1_Nonsense_Mutation_p.E1146*|DENND5B_ENST00000306833.6_Nonsense_Mutation_p.E1146*	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1111					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ACCTCTTTTTCAGGTTTATGA	0.353																																						dbGAP											0													70.0	62.0	64.0					12																	31545556		1826	4068	5894	-	-	-	SO:0001587	stop_gained	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3331G>T	12.37:g.31545556C>A	ENSP00000373734:p.Glu1111*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.E1146*	ENST00000389082.5	37	c.3436	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	43	10.172484	0.99352	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.3914	17.6486	0.88155	0.0:1.0:0.0:0.0	.	.	.	.	X	1111;1146;1146	.	ENSP00000306482:E1146X	E	-	1	0	DENND5B	31436823	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.359000	0.79477	2.460000	0.83146	0.655000	0.94253	GAA	DENND5B	-	NULL	ENSG00000170456		0.353	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	71	0.00	0	C	NM_144973		31545556	31545556	-1	no_errors	ENST00000306833	ensembl	human	known	69_37n	nonsense	67	19.28	16	SNP	1.000	A
DEPTOR	64798	genome.wustl.edu	37	8	121019105	121019105	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:121019105G>A	ENST00000286234.5	+	7	1117	c.987G>A	c.(985-987)aaG>aaA	p.K329K	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Silent_p.K228K	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	329					intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.K329N(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATGCAAGGAAGACATTCACGG	0.498																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											145.0	120.0	129.0					8																	121019105		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.987G>A	8.37:g.121019105G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Silent	SNP	pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ	p.K329	ENST00000286234.5	37	c.987	CCDS6331.1	8																																																																																			DEPTOR	-	superfamily_PDZ	ENSG00000155792		0.498	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPTOR	HGNC	protein_coding	OTTHUMT00000381601.1	59	0.00	0	G	NM_022783		121019105	121019105	+1	no_errors	ENST00000286234	ensembl	human	known	69_37n	silent	51	27.14	19	SNP	1.000	A
DGKH	160851	genome.wustl.edu	37	13	42733494	42733494	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:42733494G>A	ENST00000337343.4	+	6	736	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	DGKH_ENST00000261491.5_Missense_Mutation_p.E239K|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000379274.2_Missense_Mutation_p.E103K|DGKH_ENST00000536612.1_Missense_Mutation_p.E103K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.E239K	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	239					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GGACATTATAGAAGATGAAGA	0.428																																						dbGAP											0													84.0	66.0	72.0					13																	42733494		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.715G>A	13.37:g.42733494G>A	ENSP00000337572:p.Glu239Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E239K	ENST00000337343.4	37	c.715	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	g	18.56	3.649639	0.67358	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.31	4.47	0.54385	.	0.051282	0.85682	N	0.000000	D	0.91693	0.7374	M	0.77616	2.38	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.879	D;D;P	0.80764	0.971;0.994;0.596	D	0.92194	0.5762	10	0.59425	D	0.04	.	14.1858	0.65605	0.0724:0.0:0.9276:0.0	.	103;239;239	Q86XP1-3;Q86XP1-2;Q86XP1	.;.;DGKH_HUMAN	K	239;239;239;103;103	ENSP00000440823:E239K;ENSP00000337572:E239K;ENSP00000261491:E239K;ENSP00000368576:E103K;ENSP00000445114:E103K	ENSP00000261491:E239K	E	+	1	0	DGKH	41631494	1.000000	0.71417	0.934000	0.37439	0.224000	0.24922	7.606000	0.82863	1.237000	0.43756	-0.119000	0.15052	GAA	DGKH	-	NULL	ENSG00000102780		0.428	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	30	0.00	0	G	NM_178009		42733494	42733494	+1	no_errors	ENST00000337343	ensembl	human	known	69_37n	missense	16	44.83	13	SNP	1.000	A
DGUOK	1716	genome.wustl.edu	37	2	74184263	74184263	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:74184263G>C	ENST00000264093.4	+	5	688	c.603G>C	c.(601-603)aaG>aaC	p.K201N	DGUOK_ENST00000348222.1_Intron|DGUOK_ENST00000462685.1_Intron|DGUOK-AS1_ENST00000413452.1_RNA|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK-AS1_ENST00000439192.1_RNA|DGUOK_ENST00000356837.6_Missense_Mutation_p.K179N	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	201					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	TTTGTTTGAAGAGACTGTACC	0.517																																						dbGAP											0													84.0	75.0	78.0					2																	74184263		2203	4300	6503	-	-	-	SO:0001583	missense	0			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.603G>C	2.37:g.74184263G>C	ENSP00000264093:p.Lys201Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase	p.K201N	ENST00000264093.4	37	c.603	CCDS1931.1	2	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376816	0.24857	.	.	ENSG00000114956	ENST00000264093;ENST00000356837;ENST00000347161	D;D	0.98044	-4.68;-4.68	5.3	4.41	0.53225	.	0.419426	0.28946	N	0.013628	D	0.95529	0.8547	L	0.37561	1.115	0.45837	D	0.998708	P	0.44690	0.841	P	0.44921	0.464	D	0.93885	0.7174	10	0.31617	T	0.26	-5.8702	13.2293	0.59933	0.0797:0.0:0.9203:0.0	.	201	Q16854	DGUOK_HUMAN	N	201;179;163	ENSP00000264093:K201N;ENSP00000349294:K179N	ENSP00000264093:K201N	K	+	3	2	DGUOK	74037771	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	3.819000	0.55686	1.207000	0.43291	0.561000	0.74099	AAG	DGUOK	-	pfam_Deoxynucleoside_kinase	ENSG00000114956		0.517	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK	HGNC	protein_coding	OTTHUMT00000252050.1	31	0.00	0	G			74184263	74184263	+1	no_errors	ENST00000264093	ensembl	human	known	69_37n	missense	54	32.50	26	SNP	1.000	C
DKK1	22943	genome.wustl.edu	37	10	54074293	54074293	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:54074293G>A	ENST00000373970.3	+	1	238	c.99G>A	c.(97-99)ttG>ttA	p.L33L	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	33					cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GCGCCACCTTGAACTCGGTTC	0.677											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													41.0	46.0	44.0					10																	54074293		2200	4292	6492	-	-	-	SO:0001819	synonymous_variant	0				CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.99G>A	10.37:g.54074293G>A		Somatic	997	WXS	Illumina GAIIx	Phase_IV	B2RC19	Silent	SNP	pfam_Dickkopf_N	p.L33	ENST00000373970.3	37	c.99	CCDS7246.1	10																																																																																			DKK1	-	NULL	ENSG00000107984		0.677	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK1	HGNC	protein_coding	OTTHUMT00000048100.1	13	0.00	0	G			54074293	54074293	+1	no_errors	ENST00000373970	ensembl	human	known	69_37n	silent	9	43.75	7	SNP	0.995	A
DLC1	10395	genome.wustl.edu	37	8	12952717	12952717	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:12952717C>G	ENST00000276297.4	-	11	3614	c.3205G>C	c.(3205-3207)Gac>Cac	p.D1069H	DLC1_ENST00000358919.2_Missense_Mutation_p.D632H|DLC1_ENST00000520226.1_Missense_Mutation_p.D558H|DLC1_ENST00000512044.2_Missense_Mutation_p.D666H|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1069	Polybasic cluster (PBR).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCTTGTAGTCTGGAACCTTG	0.547																																						dbGAP											0													104.0	92.0	96.0					8																	12952717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3205G>C	8.37:g.12952717C>G	ENSP00000276297:p.Asp1069His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.D1069H	ENST00000276297.4	37	c.3205	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.108698	0.94292	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.08546	3.35;3.11;3.1;3.08	4.97	4.97	0.65823	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	M	0.88640	2.97	0.80722	D	1	B;D;D	0.89917	0.431;1.0;1.0	B;D;D	0.97110	0.354;1.0;0.997	T	0.38693	-0.9649	10	0.87932	D	0	.	18.8143	0.92071	0.0:1.0:0.0:0.0	.	1069;666;632	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	H	1069;632;8;666;558	ENSP00000276297:D1069H;ENSP00000351797:D632H;ENSP00000422595:D666H;ENSP00000428028:D558H	ENSP00000276297:D1069H	D	-	1	0	DLC1	12997088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.646000	0.83445	2.761000	0.94854	0.650000	0.86243	GAC	DLC1	-	NULL	ENSG00000164741		0.547	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	30	0.00	0	C	NM_182643, NM_006094		12952717	12952717	-1	no_errors	ENST00000276297	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	1.000	G
DLG1	1739	genome.wustl.edu	37	3	196792627	196792627	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:196792627C>A	ENST00000419354.1	-	22	2471	c.2185G>T	c.(2185-2187)Gat>Tat	p.D729Y	DLG1_ENST00000448528.2_Missense_Mutation_p.D729Y|DLG1_ENST00000357674.4_Missense_Mutation_p.D718Y|DLG1_ENST00000443183.1_Missense_Mutation_p.D625Y|DLG1_ENST00000346964.2_Missense_Mutation_p.D751Y|DLG1_ENST00000452595.1_Missense_Mutation_p.D613Y|DLG1_ENST00000314062.3_Missense_Mutation_p.D678Y|DLG1_ENST00000450955.1_Missense_Mutation_p.D718Y|DLG1_ENST00000392382.2_Missense_Mutation_p.D696Y|DLG1_ENST00000422288.1_Missense_Mutation_p.D678Y			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	729	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATCAAGTCATCATTTATCCTG	0.313																																						dbGAP											0													126.0	120.0	122.0					3																	196792627		2203	4298	6501	-	-	-	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2185G>T	3.37:g.196792627C>A	ENSP00000407531:p.Asp729Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D751Y	ENST00000419354.1	37	c.2251	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195310	0.58017	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.43	5.43	0.79202	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.054595	0.64402	D	0.000001	T	0.60051	0.2239	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.992;1.0;0.997	D;D;D;D;D	0.76071	0.96;0.986;0.976;0.987;0.983	T	0.72434	-0.4295	10	0.87932	D	0	.	18.2314	0.89936	0.0:1.0:0.0:0.0	.	718;613;625;729;751	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	Y	751;742;718;716;678;729;613;678;729;625;696;718	ENSP00000345731:D751Y;ENSP00000350303:D718Y;ENSP00000321087:D678Y;ENSP00000407531:D729Y;ENSP00000398939:D613Y;ENSP00000413238:D678Y;ENSP00000391732:D729Y;ENSP00000396658:D625Y;ENSP00000376187:D696Y;ENSP00000411278:D718Y	ENSP00000321087:D678Y	D	-	1	0	DLG1	198277024	1.000000	0.71417	1.000000	0.80357	0.208000	0.24298	7.818000	0.86416	2.552000	0.86080	0.467000	0.42956	GAT	DLG1	-	pfam_Guanylate_kin,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin	ENSG00000075711		0.313	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	59	0.00	0	C	NM_004087		196792627	196792627	-1	no_errors	ENST00000346964	ensembl	human	known	69_37n	missense	135	16.05	26	SNP	1.000	A
DNAAF2	55172	genome.wustl.edu	37	14	50094744	50094744	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:50094744G>C	ENST00000298292.8	-	2	2073	c.1993C>G	c.(1993-1995)Caa>Gaa	p.Q665E	DNAAF2_ENST00000406043.3_Intron|RP11-649E7.7_ENST00000556657.1_RNA	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	665					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						GCATTAATTTGAATCTTATTA	0.338																																						dbGAP											0													41.0	40.0	40.0					14																	50094744		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1993C>G	14.37:g.50094744G>C	ENSP00000298292:p.Gln665Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	NULL	p.Q665E	ENST00000298292.8	37	c.1993	CCDS9691.2	14	.	.	.	.	.	.	.	.	.	.	G	9.192	1.026230	0.19512	.	.	ENSG00000165506	ENST00000298292	T	0.11930	2.73	5.47	1.38	0.22167	.	0.271841	0.28921	N	0.013709	T	0.09992	0.0245	L	0.28115	0.83	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15549	-1.0433	10	0.10902	T	0.67	.	17.5866	0.87983	0.0:0.5024:0.4976:0.0	.	665	Q9NVR5	KTU_HUMAN	E	665	ENSP00000298292:Q665E	ENSP00000298292:Q665E	Q	-	1	0	DNAAF2	49164494	1.000000	0.71417	0.985000	0.45067	0.949000	0.60115	1.469000	0.35343	0.047000	0.15862	-0.257000	0.10917	CAA	DNAAF2	-	NULL	ENSG00000165506		0.338	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAAF2	HGNC	protein_coding	OTTHUMT00000276813.1	38	0.00	0	G			50094744	50094744	-1	no_errors	ENST00000298292	ensembl	human	known	69_37n	missense	17	43.75	14	SNP	0.959	C
DNAH14	127602	genome.wustl.edu	37	1	225147894	225147894	+	Intron	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:225147894C>T	ENST00000445597.2	+	6	748				DNAH14_ENST00000400952.3_Missense_Mutation_p.S86F|DNAH14_ENST00000430092.1_Missense_Mutation_p.S86F|DNAH14_ENST00000439375.2_Missense_Mutation_p.S86F|DNAH14_ENST00000366850.3_Missense_Mutation_p.S86F|DNAH14_ENST00000366848.1_Missense_Mutation_p.S86F|DNAH14_ENST00000366849.1_Missense_Mutation_p.S86F|DNAH14_ENST00000498360.1_3'UTR			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						CATATGGTTTCTCCAGAGCCA	0.363																																						dbGAP											0													82.0	76.0	78.0					1																	225147894		1841	4078	5919	-	-	-	SO:0001627	intron_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.749-4287C>T	1.37:g.225147894C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.S86F	ENST00000445597.2	37	c.257		1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694694	0.30052	.	.	ENSG00000185842	ENST00000430092;ENST00000366850;ENST00000400952;ENST00000366849;ENST00000366848;ENST00000439375	T;T;T;T;T;T	0.36157	1.47;1.27;1.36;1.36;1.27;1.47	4.29	0.0746	0.14396	.	1.719800	0.03859	N	0.273637	T	0.25865	0.0630	.	.	.	0.09310	N	1	P;P;P	0.40032	0.699;0.699;0.699	B;B;B	0.38020	0.205;0.263;0.263	T	0.15694	-1.0428	9	0.56958	D	0.05	.	1.5592	0.02591	0.1702:0.4678:0.1654:0.1966	.	86;86;86	Q0VDD8-4;Q0VDD8-3;Q0VDD8-2	.;.;.	F	86	ENSP00000414402:S86F;ENSP00000355815:S86F;ENSP00000383737:S86F;ENSP00000355814:S86F;ENSP00000355813:S86F;ENSP00000392061:S86F	ENSP00000355813:S86F	S	+	2	0	DNAH14	223214517	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.471000	0.06631	-0.089000	0.12484	0.609000	0.83330	TCT	DNAH14	-	NULL	ENSG00000185842		0.363	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	50	0.00	0	C	XM_059166		225147894	225147894	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	missense	26	58.06	36	SNP	0.000	T
DNAH5	1767	genome.wustl.edu	37	5	13708288	13708288	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:13708288G>A	ENST00000265104.4	-	76	13386	c.13282C>T	c.(13282-13284)Ctg>Ttg	p.L4428L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4428					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATCTCGCAGATTTTCGCTC	0.453									Kartagener syndrome																													dbGAP											0													233.0	206.0	215.0					5																	13708288		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13282C>T	5.37:g.13708288G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L4428	ENST00000265104.4	37	c.13282	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy	ENSG00000039139		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	61	0.00	0	G	NM_001369		13708288	13708288	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	57	22.97	17	SNP	0.999	A
DNAH8	1769	genome.wustl.edu	37	6	38835879	38835879	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:38835879G>C	ENST00000359357.3	+	46	6338	c.6084G>C	c.(6082-6084)ttG>ttC	p.L2028F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L2245F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1992F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2028	AAA 1. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTCTGTATTGAGGACTCTTG	0.368																																						dbGAP											0													135.0	131.0	132.0					6																	38835879		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6084G>C	6.37:g.38835879G>C	ENSP00000352312:p.Leu2028Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	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.L2028F	ENST00000359357.3	37	c.6084		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.37|17.37	3.373072|3.373072	0.61624|0.61624	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	T;T;T|.	0.50813|.	0.73;0.73;0.73|.	5.73|5.73	2.05|2.05	0.26809|0.26809	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.70141|.	0.3190|.	M|M	0.94101|0.94101	3.495|3.495	0.54753|0.54753	D|D	0.999987|0.999987	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.70949|.	-0.4733|.	10|.	0.87932|.	D|.	0|.	.|.	5.7529|5.7529	0.18156|0.18156	0.3191:0.0:0.5633:0.1175|0.3191:0.0:0.5633:0.1175	.|.	2028|.	Q96JB1|.	DYH8_HUMAN|.	F|S	2233;2233;2028;1992|74	ENSP00000333363:L2233F;ENSP00000352312:L2028F;ENSP00000402294:L1992F|.	ENSP00000333363:L2233F|.	L|X	+|+	3|2	2|2	DNAH8|DNAH8	38943857|38943857	0.998000|0.998000	0.40836|0.40836	0.795000|0.795000	0.32087|0.32087	0.987000|0.987000	0.75469|0.75469	0.625000|0.625000	0.24477|0.24477	0.160000|0.160000	0.19432|0.19432	-0.137000|-0.137000	0.14449|0.14449	TTG|TGA	DNAH8	-	NULL	ENSG00000124721		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	86	0.00	0	G	NM_001206927		38835879	38835879	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	85	20.37	22	SNP	0.970	C
DNAH9	1770	genome.wustl.edu	37	17	11511580	11511580	+	Silent	SNP	T	T	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:11511580T>G	ENST00000262442.4	+	2	620	c.552T>G	c.(550-552)acT>acG	p.T184T	DNAH9_ENST00000579828.1_Silent_p.T184T|DNAH9_ENST00000454412.2_Silent_p.T184T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	184	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)		AGGGAAAAACTTTGCTGCCTC	0.512																																						dbGAP											0													121.0	123.0	122.0					17																	11511580		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.552T>G	17.37:g.11511580T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T184	ENST00000262442.4	37	c.552	CCDS11160.1	17																																																																																			DNAH9	-	NULL	ENSG00000007174		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	11	0.00	0	T	NM_001372		11511580	11511580	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	silent	20	20.00	5	SNP	0.006	G
DOCK10	55619	genome.wustl.edu	37	2	225738737	225738737	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:225738737C>G	ENST00000258390.7	-	11	1300	c.1233G>C	c.(1231-1233)gaG>gaC	p.E411D	DOCK10_ENST00000409592.3_Missense_Mutation_p.E405D	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	411					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)		CATTTTCATTCTCCGTAACAC	0.383																																						dbGAP											0													134.0	125.0	128.0					2																	225738737		1869	4107	5976	-	-	-	SO:0001583	missense	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.1233G>C	2.37:g.225738737C>G	ENSP00000258390:p.Glu411Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E411D	ENST00000258390.7	37	c.1233	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291652	0.23564	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.42131	0.98;0.98	5.87	2.09	0.27110	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	L	0.49778	1.585	0.34566	D	0.712953	B;B;B	0.26120	0.032;0.142;0.01	B;B;B	0.27262	0.015;0.078;0.008	T	0.22277	-1.0221	10	0.23302	T	0.38	.	4.7627	0.13116	0.0:0.4103:0.1515:0.4381	.	411;411;405	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	D	405;411	ENSP00000386694:E405D;ENSP00000258390:E411D	ENSP00000258390:E411D	E	-	3	2	DOCK10	225446981	0.996000	0.38824	0.999000	0.59377	0.836000	0.47400	0.400000	0.20932	0.494000	0.27859	-0.136000	0.14681	GAG	DOCK10	-	NULL	ENSG00000135905		0.383	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	80	0.00	0	C			225738737	225738737	-1	no_errors	ENST00000258390	ensembl	human	known	69_37n	missense	107	32.08	51	SNP	1.000	G
DOCK2	1794	genome.wustl.edu	37	5	169423141	169423141	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:169423141C>G	ENST00000256935.8	+	30	3125	c.3045C>G	c.(3043-3045)ttC>ttG	p.F1015L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.F507L|DOCK2_ENST00000540750.1_Missense_Mutation_p.F76L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1015	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCAGAAGTTCCTAGAACACA	0.493																																						dbGAP											0													104.0	95.0	98.0					5																	169423141		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3045C>G	5.37:g.169423141C>G	ENSP00000256935:p.Phe1015Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like,smart_SH3_domain,pfscan_SH3_domain	p.F1015L	ENST00000256935.8	37	c.3045	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343337	0.82022	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.27256	1.68;1.68;1.68	5.74	-2.76	0.05896	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.66439	2.03	0.37790	D	0.92731	P;P	0.52170	0.951;0.462	B;B	0.44224	0.444;0.173	T	0.36432	-0.9748	10	0.52906	T	0.07	.	12.7276	0.57180	0.0:0.303:0.0:0.697	.	507;1015	E7ERW7;Q92608	.;DOCK2_HUMAN	L	1015;507;76	ENSP00000256935:F1015L;ENSP00000429283:F507L;ENSP00000438827:F76L	ENSP00000256935:F1015L	F	+	3	2	DOCK2	169355719	0.998000	0.40836	0.976000	0.42696	0.918000	0.54935	0.244000	0.18124	-0.447000	0.07138	0.643000	0.83706	TTC	DOCK2	-	superfamily_ARM-type_fold,superfamily_Ferritin/RR-like	ENSG00000134516		0.493	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	40	0.00	0	C	NM_004946		169423141	169423141	+1	no_errors	ENST00000256935	ensembl	human	known	69_37n	missense	29	42.00	21	SNP	0.941	G
DPP4	1803	genome.wustl.edu	37	2	162879266	162879266	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:162879266C>T	ENST00000360534.3	-	12	1627	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	356					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AACACTTACTCTTCCAACCCA	0.388																																						dbGAP											0													153.0	147.0	149.0					2																	162879266		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1068+1G>A	2.37:g.162879266C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R356K	ENST00000360534.3	37	c.1067	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	C	7.613	0.675151	0.14841	.	.	ENSG00000197635	ENST00000360534	D	0.95853	-3.83	5.33	5.33	0.75918	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.189797	0.45606	D	0.000346	D	0.92557	0.7636	M	0.64997	1.995	0.45946	D	0.998776	B	0.28291	0.206	B	0.29716	0.106	D	0.87487	0.2424	10	0.07030	T	0.85	-25.6243	11.6324	0.51183	0.0:0.9167:0.0:0.0833	.	356	P27487	DPP4_HUMAN	K	356	ENSP00000353731:R356K	ENSP00000353731:R356K	R	-	2	0	DPP4	162587512	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	2.541000	0.45735	2.636000	0.89361	0.655000	0.94253	AGA	DPP4	-	pfam_Peptidase_S9B	ENSG00000197635		0.388	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	82	0.00	0	C		Missense_Mutation	162879266	162879266	-1	no_errors	ENST00000360534	ensembl	human	known	69_37n	missense	78	40.15	53	SNP	1.000	T
DPYSL2	1808	genome.wustl.edu	37	8	26441384	26441384	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:26441384C>G	ENST00000311151.5	+	3	610	c.198C>G	c.(196-198)atC>atG	p.I66M	DPYSL2_ENST00000523027.1_Missense_Mutation_p.I30M|DPYSL2_ENST00000521913.1_Missense_Mutation_p.I30M	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	66					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GGATGGTGATCCCCGGAGGAA	0.527																																						dbGAP											0													110.0	103.0	106.0					8																	26441384		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.198C>G	8.37:g.26441384C>G	ENSP00000309539:p.Ile66Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.I66M	ENST00000311151.5	37	c.198	CCDS6051.1	8	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273639	0.23221	.	.	ENSG00000092964	ENST00000521913;ENST00000493789;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D;D	0.90197	-2.63;-2.06;-2.63;-2.63;-2.63	5.48	-4.26	0.03755	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.107097	0.64402	D	0.000002	D	0.82944	0.5147	L	0.41961	1.31	0.54753	D	0.999982	B;B;B	0.15473	0.013;0.001;0.003	B;B;B	0.28916	0.096;0.01;0.016	T	0.63892	-0.6534	10	0.11485	T	0.65	-29.5297	10.6499	0.45642	0.0:0.3766:0.0919:0.5315	.	66;66;122	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	M	30;138;66;66;30	ENSP00000427985:I30M;ENSP00000427954:I138M;ENSP00000309539:I66M;ENSP00000428909:I66M;ENSP00000431117:I30M	ENSP00000309539:I66M	I	+	3	3	DPYSL2	26497301	0.968000	0.33430	0.807000	0.32361	0.817000	0.46193	0.058000	0.14301	-0.665000	0.05317	-0.145000	0.13849	ATC	DPYSL2	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000092964		0.527	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL2	HGNC	protein_coding	OTTHUMT00000216904.3	37	0.00	0	C	NM_001386		26441384	26441384	+1	no_errors	ENST00000311151	ensembl	human	known	69_37n	missense	39	14.89	7	SNP	0.891	G
DSCAML1	57453	genome.wustl.edu	37	11	117307850	117307850	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:117307850C>T	ENST00000321322.6	-	26	4889	c.4888G>A	c.(4888-4890)Gac>Aac	p.D1630N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.D1360N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1570					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCATCGTAGTCCAGGGTGGCG	0.592																																						dbGAP											0													71.0	66.0	67.0					11																	117307850		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4888G>A	11.37:g.117307850C>T	ENSP00000315465:p.Asp1630Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D1630N	ENST00000321322.6	37	c.4888	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824394	0.32237	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.59772	0.26;0.24	4.1	4.1	0.47936	Fibronectin, type III (1);	.	.	.	.	T	0.42720	0.1215	L	0.27053	0.805	0.80722	D	1	B	0.18013	0.025	B	0.16722	0.016	T	0.31971	-0.9924	9	0.07482	T	0.82	.	16.9031	0.86118	0.0:1.0:0.0:0.0	.	1570	Q8TD84	DSCL1_HUMAN	N	1360;1630;1337	ENSP00000434335:D1360N;ENSP00000315465:D1630N	ENSP00000315465:D1630N	D	-	1	0	DSCAML1	116813060	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.468000	0.60162	2.286000	0.76751	0.655000	0.94253	GAC	DSCAML1	-	superfamily_Fibronectin_type3	ENSG00000177103		0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	26	0.00	0	C	NM_020693		117307850	117307850	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	missense	5	73.68	14	SNP	1.000	T
DSP	1832	genome.wustl.edu	37	6	7580286	7580286	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:7580286A>C	ENST00000379802.3	+	23	4204	c.3863A>C	c.(3862-3864)aAg>aCg	p.K1288T	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1288	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGCAGAAGAAGCAGCATCTG	0.552																																						dbGAP											0													87.0	89.0	88.0					6																	7580286		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3863A>C	6.37:g.7580286A>C	ENSP00000369129:p.Lys1288Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K1288T	ENST00000379802.3	37	c.3863	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	A	9.266	1.044541	0.19748	.	.	ENSG00000096696	ENST00000379802	D	0.91792	-2.91	5.17	5.17	0.71159	.	0.095859	0.45361	D	0.000372	D	0.91727	0.7384	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.89824	0.3991	10	0.16896	T	0.51	.	14.666	0.68907	1.0:0.0:0.0:0.0	.	1288	P15924	DESP_HUMAN	T	1288	ENSP00000369129:K1288T	ENSP00000369129:K1288T	K	+	2	0	DSP	7525285	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.775000	0.62346	1.952000	0.56665	0.455000	0.32223	AAG	DSP	-	NULL	ENSG00000096696		0.552	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	10	0.00	0	A	NM_004415		7580286	7580286	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	1.000	C
DSP	1832	genome.wustl.edu	37	6	7583116	7583116	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:7583116A>C	ENST00000379802.3	+	24	5962	c.5621A>C	c.(5620-5622)aAg>aCg	p.K1874T	DSP_ENST00000418664.2_Missense_Mutation_p.K1275T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1874	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATTCCCGCAAGGAGGAGGCT	0.453																																						dbGAP											0													76.0	80.0	78.0					6																	7583116		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5621A>C	6.37:g.7583116A>C	ENSP00000369129:p.Lys1874Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K1874T	ENST00000379802.3	37	c.5621	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505222	0.26949	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.65364	-0.15;-0.15	5.38	5.38	0.77491	.	0.096535	0.44902	D	0.000412	T	0.21307	0.0513	N	0.12182	0.205	0.18873	N	0.999987	B;B	0.18863	0.031;0.01	B;B	0.14578	0.006;0.011	T	0.05566	-1.0877	10	0.13853	T	0.58	.	12.1969	0.54303	0.8477:0.1522:0.0:0.0	.	1322;1874	Q4LE79;P15924	.;DESP_HUMAN	T	1874;1275	ENSP00000369129:K1874T;ENSP00000396591:K1275T	ENSP00000369129:K1874T	K	+	2	0	DSP	7528115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.670000	0.46833	2.019000	0.59389	0.528000	0.53228	AAG	DSP	-	NULL	ENSG00000096696		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	36	0.00	0	A	NM_004415		7583116	7583116	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	1.000	C
DSP	1832	genome.wustl.edu	37	6	7585120	7585120	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:7585120A>T	ENST00000379802.3	+	24	7966	c.7625A>T	c.(7624-7626)aAg>aTg	p.K2542M	DSP_ENST00000418664.2_Missense_Mutation_p.K1943M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2542	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTTGACAGGAAGTTCTTTGAT	0.502																																						dbGAP											0													127.0	117.0	121.0					6																	7585120		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7625A>T	6.37:g.7585120A>T	ENSP00000369129:p.Lys2542Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K2542M	ENST00000379802.3	37	c.7625	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671559	0.47781	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.70045	-0.45;-0.45	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000003	T	0.61553	0.2356	L	0.36672	1.1	0.21105	N	0.99979	D;D	0.69078	0.997;0.981	D;P	0.64144	0.922;0.747	T	0.60454	-0.7260	10	0.54805	T	0.06	.	11.9699	0.53058	0.8554:0.1446:0.0:0.0	.	1990;2542	Q4LE79;P15924	.;DESP_HUMAN	M	2542;1943	ENSP00000369129:K2542M;ENSP00000396591:K1943M	ENSP00000369129:K2542M	K	+	2	0	DSP	7530119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.920000	0.40025	2.189000	0.69895	0.533000	0.62120	AAG	DSP	-	smart_Plectin_repeat	ENSG00000096696		0.502	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	33	0.00	0	A	NM_004415		7585120	7585120	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	37	19.15	9	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56335971	56335971	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:56335971C>G	ENST00000361203.3	-	90	21301	c.21294G>C	c.(21292-21294)agG>agC	p.R7098S	DST_ENST00000421834.2_Missense_Mutation_p.R5094S|DST_ENST00000370788.2_Missense_Mutation_p.R5012S|DST_ENST00000370754.5_Missense_Mutation_p.R7387S|DST_ENST00000370769.4_Missense_Mutation_p.R7209S|DST_ENST00000446842.2_Missense_Mutation_p.R6883S|DST_ENST00000244364.6_Missense_Mutation_p.R4795S|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7207					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)			TATCAATTCTCCTGAAGAAGT	0.383																																						dbGAP											0													66.0	61.0	63.0					6																	56335971		1875	4146	6021	-	-	-	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.21294G>C	6.37:g.56335971C>G	ENSP00000354508:p.Arg7098Ser	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.R7387S	ENST00000361203.3	37	c.22161		6	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926855	0.52759	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	6.02	5.15	0.70609	EF-hand-like domain (1);	0.000000	0.64402	D	0.000012	T	0.74283	0.3696	M	0.64630	1.985	0.34334	D	0.687977	D;D;D;D;D	0.89917	0.997;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.999;0.997;0.998;1.0	T	0.79899	-0.1608	9	0.87932	D	0	.	9.4338	0.38626	0.0:0.7891:0.0:0.2109	.	5094;7209;7387;7207;4795	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	4795;7387;7209;5094;6883;5012;7098	ENSP00000244364:R4795S;ENSP00000359790:R7387S;ENSP00000359805:R7209S;ENSP00000400883:R5094S;ENSP00000393645:R6883S;ENSP00000359824:R5012S;ENSP00000354508:R7098S	ENSP00000244364:R4795S	R	-	3	2	DST	56443930	0.988000	0.35896	1.000000	0.80357	0.987000	0.75469	0.277000	0.18734	1.551000	0.49450	0.655000	0.94253	AGG	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000151914		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	45	0.00	0	C	NM_001723		56335971	56335971	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	59	23.38	18	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56504379	56504379	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:56504379C>T	ENST00000361203.3	-	17	2102	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	DST_ENST00000370765.6_Missense_Mutation_p.D373N|DST_ENST00000421834.2_Missense_Mutation_p.D699N|DST_ENST00000370788.2_Missense_Mutation_p.D699N|DST_ENST00000518935.1_Missense_Mutation_p.D373N|DST_ENST00000370754.5_Missense_Mutation_p.D877N|DST_ENST00000370769.4_Missense_Mutation_p.D699N|DST_ENST00000446842.2_Missense_Mutation_p.D373N|DST_ENST00000244364.6_Missense_Mutation_p.D373N|DST_ENST00000312431.6_Missense_Mutation_p.D699N			Q03001	DYST_HUMAN	dystonin	699					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)			TGGAGTGTATCAAGGTGCCGT	0.353																																						dbGAP											0													97.0	101.0	100.0					6																	56504379		2203	4300	6503	-	-	-	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.2095G>A	6.37:g.56504379C>T	ENSP00000354508:p.Asp699Asn	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.D877N	ENST00000361203.3	37	c.2629		6	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702338	0.88924	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.34	4.45	0.53987	.	0.000000	0.53938	D	0.000050	D	0.94398	0.8198	M	0.69358	2.11	0.32182	N	0.580201	B;B;D;B;D;P;D;D;B;P	0.71674	0.385;0.29;0.976;0.421;0.984;0.563;0.967;0.998;0.159;0.692	B;B;P;B;P;P;P;D;B;P	0.77004	0.164;0.278;0.836;0.278;0.895;0.548;0.857;0.989;0.088;0.514	D	0.95254	0.8362	9	0.87932	D	0	.	16.0296	0.80570	0.0:0.8655:0.1344:0.0	.	728;699;699;877;815;373;373;373;699;373	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	N	373;877;699;699;373;699;699;699;373;739;373;373	ENSP00000244364:D373N;ENSP00000359790:D877N;ENSP00000359805:D699N;ENSP00000400883:D699N;ENSP00000393645:D373N;ENSP00000307959:D699N;ENSP00000359824:D699N;ENSP00000354508:D699N;ENSP00000404924:D373N;ENSP00000431030:D739N;ENSP00000359801:D373N;ENSP00000431003:D373N	ENSP00000244364:D373N	D	-	1	0	DST	56612338	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	5.912000	0.69948	1.440000	0.47531	0.650000	0.86243	GAT	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	48	0.00	0	C	NM_001723		56504379	56504379	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	39	22.00	11	SNP	1.000	T
DYX1C1	161582	genome.wustl.edu	37	15	55727116	55727116	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:55727116T>C	ENST00000321149.3	-	8	1401	c.1034A>G	c.(1033-1035)gAa>gGa	p.E345G	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.E345G|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E345G|DYX1C1_ENST00000380679.1_Missense_Mutation_p.E345G|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E345G	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	345					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AGAAGAATCTTCAATAGCCTT	0.308																																						dbGAP											0													128.0	134.0	132.0					15																	55727116		2192	4292	6484	-	-	-	SO:0001583	missense	0				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.1034A>G	15.37:g.55727116T>C	ENSP00000323275:p.Glu345Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	pfam_TPR-1,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E345G	ENST00000321149.3	37	c.1034	CCDS10154.1	15	.	.	.	.	.	.	.	.	.	.	T	19.48	3.835988	0.71373	.	.	ENSG00000256061	ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.29	5.29	0.74685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.194241	0.41938	U	0.000792	T	0.74275	0.3695	L	0.52206	1.635	0.47584	D	0.999464	D;D;D	0.89917	0.971;0.996;1.0	P;D;D	0.85130	0.89;0.968;0.997	T	0.76806	-0.2823	10	0.72032	D	0.01	.	14.6895	0.69072	0.0:0.0:0.0:1.0	.	345;345;345	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	G	345	ENSP00000403412:E345G;ENSP00000370054:E345G;ENSP00000402640:E345G;ENSP00000323275:E345G;ENSP00000299561:E345G	ENSP00000323275:E345G	E	-	2	0	DYX1C1	53514408	1.000000	0.71417	0.971000	0.41717	0.969000	0.65631	5.230000	0.65321	2.118000	0.64928	0.460000	0.39030	GAA	DYX1C1	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000256061		0.308	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYX1C1	HGNC	protein_coding	OTTHUMT00000254976.1	70	0.00	0	T	NM_130810		55727116	55727116	-1	no_errors	ENST00000321149	ensembl	human	known	69_37n	missense	102	36.25	58	SNP	1.000	C
E2F4	1874	genome.wustl.edu	37	16	67228646	67228646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:67228646G>T	ENST00000379378.3	+	6	630	c.571G>T	c.(571-573)Gag>Tag	p.E191*	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	191					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)			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)		TGGTCCCATTGAGGTTCTGCT	0.527																																						dbGAP											0													127.0	116.0	120.0					16																	67228646		2198	4300	6498	-	-	-	SO:0001587	stop_gained	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.571G>T	16.37:g.67228646G>T	ENSP00000368686:p.Glu191*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGR8|B5BU56|Q12991|Q15328	Nonsense_Mutation	SNP	pfam_E2F_TDP	p.E191*	ENST00000379378.3	37	c.571	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503510	0.85176	.	.	ENSG00000205250	ENST00000379378	.	.	.	5.91	4.95	0.65309	.	0.045770	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-20.1833	15.834	0.78782	0.0:0.1363:0.8637:0.0	.	.	.	.	X	191	.	ENSP00000368686:E191X	E	+	1	0	E2F4	65786147	1.000000	0.71417	0.826000	0.32828	0.879000	0.50718	6.667000	0.74451	1.487000	0.48415	0.655000	0.94253	GAG	E2F4	-	NULL	ENSG00000205250		0.527	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	HGNC	protein_coding	OTTHUMT00000421565.1	44	0.00	0	G	NM_001950		67228646	67228646	+1	no_errors	ENST00000379378	ensembl	human	known	69_37n	nonsense	28	33.33	14	SNP	0.993	T
EDEM3	80267	genome.wustl.edu	37	1	184680990	184680990	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:184680990C>A	ENST00000318130.8	-	15	1824	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Missense_Mutation_p.D477Y	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	520					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTACTGTCATCCAGTTCTGTA	0.323																																						dbGAP											0													79.0	74.0	75.0					1																	184680990		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1558G>T	1.37:g.184680990C>A	ENSP00000318147:p.Asp520Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.D520Y	ENST00000318130.8	37	c.1558	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742052	0.69418	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.73681	-0.77;-0.76	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	L	0.50333	1.59	0.80722	D	1	P	0.50443	0.935	P	0.50659	0.647	T	0.75932	-0.3143	9	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	520	Q9BZQ6	EDEM3_HUMAN	Y	520;477	ENSP00000318147:D520Y;ENSP00000356482:D477Y	.	D	-	1	0	EDEM3	182947613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.698000	0.92095	0.655000	0.94253	GAT	EDEM3	-	NULL	ENSG00000116406		0.323	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	40	0.00	0	C	NM_025191		184680990	184680990	-1	no_errors	ENST00000318130	ensembl	human	known	69_37n	missense	67	27.96	26	SNP	1.000	A
EEA1	8411	genome.wustl.edu	37	12	93221811	93221812	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:93221811_93221812delCT	ENST00000322349.8	-	12	1544_1545	c.1280_1281delAG	c.(1279-1281)gagfs	p.E427fs		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	427	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CTAGTTGGCGCTCTGTCTCCAG	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1280_1281delAG	12.37:g.93221813_93221814delCT	ENSP00000317955:p.Glu427fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14221	Frame_Shift_Del	DEL	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E427fs	ENST00000322349.8	37	c.1281_1280	CCDS31874.1	12																																																																																			EEA1	-	NULL	ENSG00000102189		0.386	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	50	0.00	0	CT	NM_003566		93221811	93221812	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	frame_shift_del	46	20.69	12	DEL	0.998:1.000	-
EIF2AK4	440275	genome.wustl.edu	37	15	40235627	40235627	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:40235627G>A	ENST00000263791.5	+	3	344	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E101K|EIF2AK4_ENST00000560648.1_Missense_Mutation_p.E101K|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E101K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	101	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCTATCAAATGAAAGTGTCAA	0.333																																						dbGAP											0													101.0	97.0	99.0					15																	40235627		1803	4076	5879	-	-	-	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.301G>A	15.37:g.40235627G>A	ENSP00000263791:p.Glu101Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_cat_dom	p.E101K	ENST00000263791.5	37	c.301	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.586072	0.96578	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.23754	1.89;1.89	6.17	6.17	0.99709	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.41124	1.26	0.58432	D	0.999999	P;P	0.49185	0.92;0.767	P;P	0.58780	0.845;0.779	T	0.00686	-1.1610	10	0.19147	T	0.46	-26.232	20.4745	0.99168	0.0:0.0:1.0:0.0	.	101;101	Q9P2K8;Q9P2K8-3	E2AK4_HUMAN;.	K	101	ENSP00000263791:E101K;ENSP00000372174:E101K	ENSP00000263791:E101K	E	+	1	0	EIF2AK4	38022919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.719000	0.91436	2.941000	0.99782	0.655000	0.94253	GAA	EIF2AK4	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain	ENSG00000128829		0.333	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	48	0.00	0	G			40235627	40235627	+1	no_errors	ENST00000263791	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	1.000	A
EIF2B4	8890	genome.wustl.edu	37	2	27591902	27591902	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:27591902C>G	ENST00000347454.4	-	4	560	c.389G>C	c.(388-390)aGc>aCc	p.S130T	SNX17_ENST00000542478.1_5'Flank|SNX17_ENST00000233575.2_5'Flank|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.S150T|AC074117.10_ENST00000412749.1_RNA|SNX17_ENST00000537606.1_5'Flank|EIF2B4_ENST00000445933.2_Missense_Mutation_p.S129T|EIF2B4_ENST00000493344.2_Missense_Mutation_p.S151T	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	130					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCTGGGGCTGGCCTTAGG	0.557																																						dbGAP											0													86.0	82.0	83.0					2																	27591902		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.389G>C	2.37:g.27591902C>G	ENSP00000233552:p.Ser130Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	pfam_IF-2B-related	p.S130T	ENST00000347454.4	37	c.389	CCDS33164.1	2	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293743	0.23564	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52	5.27	2.4	0.29515	.	0.514908	0.22305	N	0.061820	D	0.85745	0.5768	N	0.19112	0.55	0.27053	N	0.963746	B;B;B;B;B	0.26902	0.044;0.103;0.031;0.006;0.163	B;B;B;B;B	0.22601	0.02;0.04;0.04;0.018;0.04	T	0.72354	-0.4319	10	0.13108	T	0.6	7.0E-4	7.2422	0.26102	0.0:0.5443:0.364:0.0917	.	123;127;129;130;150	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	T	130;127;129;150;151	ENSP00000233552:S130T;ENSP00000394397:S129T;ENSP00000394869:S150T;ENSP00000429323:S151T	ENSP00000233552:S130T	S	-	2	0	EIF2B4	27445406	1.000000	0.71417	0.947000	0.38551	0.930000	0.56654	1.170000	0.31883	0.326000	0.23384	0.561000	0.74099	AGC	EIF2B4	-	NULL	ENSG00000115211		0.557	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2B4	HGNC	protein_coding	OTTHUMT00000324448.1	29	0.00	0	C			27591902	27591902	-1	no_errors	ENST00000347454	ensembl	human	known	69_37n	missense	50	20.63	13	SNP	0.961	G
EIF2D	1939	genome.wustl.edu	37	1	206784716	206784716	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:206784716C>T	ENST00000271764.2	-	2	276	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	EIF2D_ENST00000367114.3_Missense_Mutation_p.R23Q	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	23					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						CACATCAGCTCGAAGCTTTCT	0.438																																						dbGAP											0													87.0	77.0	81.0					1																	206784716		2203	4300	6503	-	-	-	SO:0001583	missense	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.68G>A	1.37:g.206784716C>T	ENSP00000271764:p.Arg23Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.R23Q	ENST00000271764.2	37	c.68	CCDS1465.1	1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524724	0.64747	.	.	ENSG00000143486	ENST00000367114;ENST00000271764;ENST00000367111;ENST00000437518	T;T;T	0.47177	0.85;0.85;0.85	5.99	3.0	0.34707	.	0.127979	0.53938	D	0.000044	T	0.48554	0.1506	M	0.81497	2.545	0.58432	D	0.999992	D;P;P	0.56287	0.975;0.87;0.919	B;P;B	0.44447	0.424;0.45;0.284	T	0.49360	-0.8948	10	0.42905	T	0.14	-17.9062	7.347	0.26668	0.126:0.6842:0.1217:0.0681	.	23;23;23	B4DGD2;P41214-2;P41214	.;.;EIF2D_HUMAN	Q	23	ENSP00000356081:R23Q;ENSP00000271764:R23Q;ENSP00000394685:R23Q	ENSP00000271764:R23Q	R	-	2	0	EIF2D	204851339	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.140000	0.50585	0.824000	0.34613	0.552000	0.68991	CGA	EIF2D	-	NULL	ENSG00000143486		0.438	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	38	0.00	0	C	NM_006893		206784716	206784716	-1	no_errors	ENST00000271764	ensembl	human	known	69_37n	missense	83	16.16	16	SNP	0.995	T
EIF4A2	1974	genome.wustl.edu	37	3	186506999	186506999	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:186506999G>A	ENST00000323963.5	+	11	1229	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	SNORA63_ENST00000363450.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.E294K|SNORA4_ENST00000584302.1_RNA|SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.E390K			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	389	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCGTGACATTGAGACTTTCTA	0.438			T	BCL6	NHL																																	dbGAP		Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													199.0	205.0	203.0					3																	186506999		2203	4300	6503	-	-	-	SO:0001583	missense	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1165G>A	3.37:g.186506999G>A	ENSP00000326381:p.Glu389Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E390K	ENST00000323963.5	37	c.1168	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252945	0.80135	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.36520	1.53;1.53;1.25	5.87	5.87	0.94306	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	L	0.52011	1.625	0.80722	D	1	D;D;D	0.69078	0.997;0.976;0.96	D;P;P	0.66084	0.941;0.846;0.705	T	0.52593	-0.8555	10	0.87932	D	0	-12.9168	18.0718	0.89410	0.0:0.0:1.0:0.0	.	294;390;389	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	K	389;390;294	ENSP00000326381:E389K;ENSP00000398370:E390K;ENSP00000348925:E294K	ENSP00000326381:E389K	E	+	1	0	EIF4A2	187989693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.283000	0.95860	2.941000	0.99782	0.655000	0.94253	GAG	EIF4A2	-	pfscan_Helicase_C	ENSG00000156976		0.438	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	44	0.00	0	G	NM_001967		186506999	186506999	+1	no_errors	ENST00000440191	ensembl	human	known	69_37n	missense	73	30.19	32	SNP	1.000	A
EIF5B	9669	genome.wustl.edu	37	2	99998687	99998687	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:99998687C>T	ENST00000289371.6	+	13	2329	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	709	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				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						ATGAATCTTTCAGGTAAGAGC	0.343																																					Colon(162;2388 2567 2705 3444)	dbGAP											0													139.0	125.0	129.0					2																	99998687		1836	4083	5919	-	-	-	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.2127C>T	2.37:g.99998687C>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.F709	ENST00000289371.6	37	c.2127	CCDS42721.1	2																																																																																			EIF5B	-	pfam_ProtSyn_GTP-bd,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	ENSG00000158417		0.343	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	77	0.00	0	C	NM_015904		99998687	99998687	+1	no_errors	ENST00000289371	ensembl	human	known	69_37n	silent	115	33.91	59	SNP	1.000	T
ELK1	2002	genome.wustl.edu	37	X	47498367	47498367	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:47498367G>A	ENST00000247161.3	-	3	680	c.581C>T	c.(580-582)tCg>tTg	p.S194L	ELK1_ENST00000592066.1_Missense_Mutation_p.S140L|ELK1_ENST00000376983.3_Missense_Mutation_p.S194L|ELK1_ENST00000343894.4_Intron	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	194					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						CCTGCTCCCCGAGGGGGGCGC	0.637																																						dbGAP											0													10.0	9.0	10.0					X																	47498367		2196	4269	6465	-	-	-	SO:0001583	missense	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.581C>T	X.37:g.47498367G>A	ENSP00000247161:p.Ser194Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S194L	ENST00000247161.3	37	c.581	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651826	0.29336	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.23147	1.92;1.92	4.39	3.52	0.40303	.	0.637130	0.14019	N	0.346889	T	0.14056	0.0340	N	0.12182	0.205	0.40267	D	0.978245	B	0.06786	0.001	B	0.04013	0.001	T	0.07888	-1.0749	10	0.27082	T	0.32	.	9.5822	0.39495	0.1106:0.0:0.8894:0.0	.	194	P19419	ELK1_HUMAN	L	194	ENSP00000247161:S194L;ENSP00000366182:S194L	ENSP00000247161:S194L	S	-	2	0	ELK1	47383311	0.647000	0.27304	0.078000	0.20375	0.986000	0.74619	0.961000	0.29267	0.943000	0.37553	0.529000	0.55759	TCG	ELK1	-	NULL	ENSG00000126767		0.637	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	15	0.00	0	G	NM_005229		47498367	47498367	-1	no_errors	ENST00000247161	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	0.483	A
ELMO1	9844	genome.wustl.edu	37	7	37262231	37262231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:37262231C>A	ENST00000310758.4	-	10	1416	c.769G>T	c.(769-771)Gag>Tag	p.E257*	ELMO1_ENST00000448602.1_Nonsense_Mutation_p.E257*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.E257*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	257					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGCCTCCTCTCATCAGGAGCC	0.423																																						dbGAP											0													138.0	128.0	132.0					7																	37262231		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.769G>T	7.37:g.37262231C>A	ENSP00000312185:p.Glu257*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Nonsense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E257*	ENST00000310758.4	37	c.769	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.683347|11.683347	0.99591|0.99591	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602|ENST00000433246	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.174405|.	0.49916|.	D|.	0.000133|.	.|T	.|0.76807	.|0.4039	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74147	.|-0.3759	.|4	0.22109|.	T|.	0.4|.	.|.	20.1454|20.1454	0.98074|0.98074	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	257;161;257;257|21	.|.	ENSP00000312185:E257X|.	E|M	-|-	1|3	0|0	ELMO1|ELMO1	37228756|37228756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.287000|0.287000	0.27160|0.27160	7.605000|7.605000	0.82844|0.82844	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|ATG	ELMO1	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000155849		0.423	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	35	0.00	0	C	NM_130442		37262231	37262231	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	nonsense	41	26.79	15	SNP	1.000	A
EML5	161436	genome.wustl.edu	37	14	89085011	89085011	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:89085011C>G	ENST00000380664.5	-	38	5496	c.5497G>C	c.(5497-5499)Gat>Cat	p.D1833H	EML5_ENST00000553320.1_5'Flank|EML5_ENST00000352093.5_Missense_Mutation_p.D1795H|EML5_ENST00000554922.1_Missense_Mutation_p.D1841H			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1833						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						TAACTGCTATCTGCAGAGAAG	0.418																																						dbGAP											0													75.0	71.0	72.0					14																	89085011		1884	4100	5984	-	-	-	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.5497G>C	14.37:g.89085011C>G	ENSP00000370039:p.Asp1833His	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.D1841H	ENST00000380664.5	37	c.5521	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088230	0.76756	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664;ENST00000555823	T;T;T;T	0.68025	1.88;1.88;1.88;-0.3	5.73	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049394	0.85682	D	0.000000	D	0.83617	0.5293	M	0.89414	3.03	0.58432	D	0.999994	D	0.89917	1.0	D	0.79784	0.993	D	0.86116	0.1565	10	0.87932	D	0	-21.7915	14.5117	0.67791	0.0:0.9297:0.0:0.0703	.	1833	Q05BV3	EMAL5_HUMAN	H	1841;1795;1833;251	ENSP00000451998:D1841H;ENSP00000298315:D1795H;ENSP00000370039:D1833H;ENSP00000452030:D251H	ENSP00000298315:D1795H	D	-	1	0	EML5	88154764	1.000000	0.71417	0.997000	0.53966	0.855000	0.48748	5.733000	0.68571	2.868000	0.98415	0.555000	0.69702	GAT	EML5	-	superfamily_WD40_repeat_dom	ENSG00000165521		0.418	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	34	0.00	0	C			89085011	89085011	-1	no_errors	ENST00000554922	ensembl	human	known	69_37n	missense	21	58.00	29	SNP	1.000	G
ENGASE	64772	genome.wustl.edu	37	17	77076351	77076351	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:77076351G>C	ENST00000579016.1	+	5	628	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	ENGASE_ENST00000539857.2_Missense_Mutation_p.E24Q	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	210						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGCCGGGGATGAGCGCTCGTA	0.552																																						dbGAP											0													60.0	67.0	65.0					17																	77076351		1991	4167	6158	-	-	-	SO:0001583	missense	0			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.628G>C	17.37:g.77076351G>C	ENSP00000462333:p.Glu210Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	pfam_Glyco_hydro_85,pfscan_BRCT_dom	p.E210Q	ENST00000579016.1	37	c.628	CCDS42394.1	17	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048159	0.36181	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.59	-1.59	0.08453	Glycoside hydrolase, family 85 (1);	0.369961	0.32386	N	0.006176	T	0.34106	0.0886	L	0.57536	1.79	0.20403	N	0.999907	B;P;B	0.36712	0.062;0.566;0.109	B;B;B	0.40702	0.11;0.338;0.103	T	0.21143	-1.0254	9	0.52906	T	0.07	-21.1611	3.8776	0.09064	0.1406:0.2345:0.5046:0.1204	.	24;210;210	B4DVK0;Q8NFI3;Q8NFI3-3	.;ENASE_HUMAN;.	Q	210	.	ENSP00000308158:E210Q	E	+	1	0	ENGASE	74587946	0.707000	0.27866	0.082000	0.20525	0.244000	0.25665	3.010000	0.49559	-0.008000	0.14320	-0.122000	0.15005	GAG	ENGASE	-	pfam_Glyco_hydro_85	ENSG00000167280		0.552	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENGASE	HGNC	protein_coding	OTTHUMT00000395807.1	23	0.00	0	G	NM_022759		77076351	77076351	+1	no_errors	ENST00000579016	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	0.336	C
ENDOV	284131	genome.wustl.edu	37	17	78397370	78397370	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:78397370G>C	ENST00000518137.1	+	5	482	c.454G>C	c.(454-456)Ggg>Cgg	p.G152R	ENDOV_ENST00000517295.2_Missense_Mutation_p.G69R|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000520284.1_5'UTR|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000518907.1_5'UTR|ENDOV_ENST00000323854.5_Missense_Mutation_p.G107R|ENDOV_ENST00000517795.1_5'UTR|ENDOV_ENST00000518644.1_Missense_Mutation_p.G69R|ENDOV_ENST00000520367.1_Missense_Mutation_p.G107R	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	152					DNA repair (GO:0006281)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|magnesium ion binding (GO:0000287)|single-stranded RNA binding (GO:0003727)|structure-specific DNA binding (GO:0043566)			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GCCGTGTGTTGGGGTGGCCAA	0.652								Direct reversal of damage																														dbGAP											0													36.0	38.0	38.0					17																	78397370		1921	4094	6015	-	-	-	SO:0001583	missense	0				CCDS54172.1, CCDS54173.1, CCDS54174.1	17q25.3	2011-05-05			ENSG00000173818	ENSG00000173818			26640	protein-coding gene	gene with protein product						12853604	Standard	NM_001164638		Approved	FLJ35220	uc021ueo.1	Q8N8Q3	OTTHUMG00000164638	ENST00000518137.1:c.454G>C	17.37:g.78397370G>C	ENSP00000429190:p.Gly152Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	pfam_Endonuclease-V	p.G152R	ENST00000518137.1	37	c.454	CCDS54172.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.143133|4.143133	0.77888|0.77888	.|.	.|.	ENSG00000173818|ENSG00000173818	ENST00000518137;ENST00000520367;ENST00000323854;ENST00000517295|ENST00000521634	T;T;T|.	0.68903|.	-0.36;-0.36;-0.36|.	4.42|4.42	4.42|4.42	0.53409|0.53409	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87458|0.87458	0.6182|0.6182	H|H	0.95884|0.95884	3.735|3.735	0.51233|0.51233	D|D	0.999914|0.999914	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.91875|0.91875	0.5511|0.5511	10|5	0.87932|.	D|.	0|.	-13.2519|-13.2519	16.8008|16.8008	0.85614|0.85614	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	152;107;107|.	Q8N8Q3;Q8N8Q3-2;Q8N8Q3-3|.	ENDOV_HUMAN;.;.|.	R|F	152;107;107;127|17	ENSP00000429190:G152R;ENSP00000431036:G107R;ENSP00000317810:G107R|.	ENSP00000317810:G107R|.	G|L	+|+	1|3	0|2	ENDOV|ENDOV	76011965|76011965	1.000000|1.000000	0.71417|0.71417	0.925000|0.925000	0.36789|0.36789	0.741000|0.741000	0.42261|0.42261	8.241000|8.241000	0.89816|0.89816	2.275000|2.275000	0.75901|0.75901	0.563000|0.563000	0.77884|0.77884	GGG|TTG	ENDOV	-	pfam_Endonuclease-V	ENSG00000173818		0.652	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENDOV	HGNC	protein_coding	OTTHUMT00000379487.1	38	0.00	0	G	NM_173627		78397370	78397370	+1	no_errors	ENST00000518137	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	1.000	C
ENPEP	2028	genome.wustl.edu	37	4	111441503	111441503	+	Missense_Mutation	SNP	C	C	A	rs138043602	byFrequency	TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:111441503C>A	ENST00000265162.5	+	10	2050	c.1708C>A	c.(1708-1710)Cag>Aag	p.Q570K	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	570					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TAACCCTTCTCAGCCCCCTTC	0.413																																						dbGAP											0													108.0	97.0	101.0					4																	111441503		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1708C>A	4.37:g.111441503C>A	ENSP00000265162:p.Gln570Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504U2	Nonsense_Mutation	SNP	NULL	p.S109*	ENST00000265162.5	37	c.326	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	C	4.091	0.014906	0.07959	.	.	ENSG00000138792	ENST00000265162	T	0.01258	5.09	5.93	3.24	0.37175	.	0.675639	0.15533	N	0.257369	T	0.01661	0.0053	N	0.25144	0.715	0.32469	N	0.543061	B	0.14012	0.009	B	0.08055	0.003	T	0.31223	-0.9951	10	0.16420	T	0.52	.	19.8532	0.96747	0.0:0.3689:0.6311:0.0	.	570	Q07075	AMPE_HUMAN	K	570	ENSP00000265162:Q570K	ENSP00000265162:Q570K	Q	+	1	0	ENPEP	111660952	0.001000	0.12720	0.470000	0.27216	0.859000	0.49053	-0.053000	0.11846	0.357000	0.24183	0.650000	0.86243	CAG	ENPEP	-	NULL	ENSG00000138792		0.413	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	32	0.00	0	C			111441503	111441503	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509344	ensembl	human	known	69_37n	nonsense	37	35.09	20	SNP	0.528	A
ENPEP	2028	genome.wustl.edu	37	4	111470981	111470981	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:111470981C>G	ENST00000265162.5	+	17	2782	c.2440C>G	c.(2440-2442)Caa>Gaa	p.Q814E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	814					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTCATTAGCTCAAGAAAAAGA	0.363																																						dbGAP											0													78.0	80.0	79.0					4																	111470981		2202	4300	6502	-	-	-	SO:0001583	missense	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2440C>G	4.37:g.111470981C>G	ENSP00000265162:p.Gln814Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Q814E	ENST00000265162.5	37	c.2440	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478559	0.84747	.	.	ENSG00000138792	ENST00000265162	T	0.04603	3.59	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	M	0.66378	2.025	0.80722	D	1	D	0.67145	0.996	D	0.67231	0.95	T	0.15122	-1.0448	10	0.07030	T	0.85	.	18.8559	0.92252	0.0:1.0:0.0:0.0	.	814	Q07075	AMPE_HUMAN	E	814	ENSP00000265162:Q814E	ENSP00000265162:Q814E	Q	+	1	0	ENPEP	111690430	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.440000	0.80464	2.466000	0.83321	0.655000	0.94253	CAA	ENPEP	-	NULL	ENSG00000138792		0.363	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	54	0.00	0	C			111470981	111470981	+1	no_errors	ENST00000265162	ensembl	human	known	69_37n	missense	38	47.95	35	SNP	1.000	G
EP400	57634	genome.wustl.edu	37	12	132516515	132516515	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:132516515C>A	ENST00000333577.4	+	31	5989	c.5880C>A	c.(5878-5880)ttC>ttA	p.F1960L	EP400_ENST00000330386.6_Missense_Mutation_p.F1843L|EP400_ENST00000389562.2_Missense_Mutation_p.F1923L|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Missense_Mutation_p.F1887L|EP400_ENST00000389561.2_Missense_Mutation_p.F1924L			Q96L91	EP400_HUMAN	E1A binding protein p400	1960	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGAGGAGTTTCAACAGAGACA	0.408																																						dbGAP											0													145.0	151.0	149.0					12																	132516515		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5880C>A	12.37:g.132516515C>A	ENSP00000333602:p.Phe1960Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F1960L	ENST00000333577.4	37	c.5880		12	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412625	0.42817	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.88664	-1.76;-1.76;-1.76;-1.76;-2.41	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.94588	0.8256	M	0.91459	3.21	0.37828	D	0.928626	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.59643	0.861;0.861;0.861	D	0.96209	0.9151	10	0.87932	D	0	.	13.4664	0.61256	0.0:0.9288:0.0:0.0712	.	1924;1843;1923	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	1960;1924;1923;1887;1843;1924	ENSP00000333602:F1960L;ENSP00000374212:F1924L;ENSP00000374213:F1923L;ENSP00000331737:F1887L;ENSP00000330620:F1843L	ENSP00000330620:F1843L	F	+	3	2	EP400	131082468	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.237000	0.43061	2.793000	0.96121	0.563000	0.77884	TTC	EP400	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000183495		0.408	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		43	0.00	0	C	NM_015409		132516515	132516515	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	missense	47	26.15	17	SNP	1.000	A
EPB41L2	2037	genome.wustl.edu	37	6	131184837	131184837	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:131184837C>T	ENST00000337057.3	-	18	3032	c.2851G>A	c.(2851-2853)Gaa>Aaa	p.E951K	EPB41L2_ENST00000531410.1_Missense_Mutation_p.E72K|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E147K|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E619K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E798K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E757K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E951K|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E619K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E693K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E881K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E881K|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E329K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E693K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E652K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	951	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTCTTGTTTCAGAAATTCCA	0.383																																						dbGAP											0													146.0	120.0	129.0					6																	131184837		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2851G>A	6.37:g.131184837C>T	ENSP00000338481:p.Glu951Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	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,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.E951K	ENST00000337057.3	37	c.2851	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.864499	0.97043	.	.	ENSG00000079819	ENST00000531410;ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000530757;ENST00000392427;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000527017	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	6.0	6.0	0.97389	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	M	0.90814	3.15	0.58432	D	0.999999	D;P;D;P;D;D	0.89917	0.996;0.766;0.979;0.931;0.996;1.0	D;P;P;P;D;D	0.97110	0.992;0.674;0.848;0.84;0.974;1.0	D	0.93272	0.6652	10	0.56958	D	0.05	.	20.4949	0.99206	0.0:1.0:0.0:0.0	.	619;798;951;693;329;118	B4DHI8;E9PPD9;O43491;Q68DV2;Q6R5J7;Q9UG62	.;.;E41L2_HUMAN;.;.;.	K	72;693;798;693;951;147;619;951;881;329;619;652;757;881;215	ENSP00000434596:E72K;ENSP00000434308:E693K;ENSP00000434576:E798K;ENSP00000402041:E693K;ENSP00000338481:E951K;ENSP00000436349:E147K;ENSP00000376222:E619K;ENSP00000357110:E951K;ENSP00000436348:E881K;ENSP00000437207:E329K;ENSP00000432803:E619K;ENSP00000431988:E652K;ENSP00000431647:E757K;ENSP00000436641:E881K;ENSP00000432949:E215K	ENSP00000338481:E951K	E	-	1	0	EPB41L2	131226530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.848000	0.98002	0.655000	0.94253	GAA	EPB41L2	-	pirsf_Band_41_protein,pfam_Band_4.1_C	ENSG00000079819		0.383	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	93	0.00	0	C			131184837	131184837	-1	no_errors	ENST00000337057	ensembl	human	known	69_37n	missense	69	24.47	23	SNP	1.000	T
EPHB4	2050	genome.wustl.edu	37	7	100420101	100420101	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:100420101C>T	ENST00000358173.3	-	4	1068	c.600G>A	c.(598-600)ctG>ctA	p.L200L	EPHB4_ENST00000360620.3_Silent_p.L200L|EPHB4_ENST00000477446.1_5'UTR|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	200	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGTTCACAGTCAGCTGGGCGC	0.647																																					GBM(200;2113 3072 25865 52728)	dbGAP											0													54.0	55.0	55.0					7																	100420101		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.600G>A	7.37:g.100420101C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	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_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,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.L200	ENST00000358173.3	37	c.600	CCDS5706.1	7																																																																																			EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000196411		0.647	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	13	0.00	0	C	NM_004444		100420101	100420101	-1	no_errors	ENST00000358173	ensembl	human	known	69_37n	silent	20	25.93	7	SNP	0.482	T
EPS8	2059	genome.wustl.edu	37	12	15822677	15822677	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:15822677G>C	ENST00000281172.5	-	5	723	c.287C>G	c.(286-288)gCc>gGc	p.A96G	RNU6-251P_ENST00000363235.1_RNA|EPS8_ENST00000543523.1_Missense_Mutation_p.A96G|EPS8_ENST00000543612.1_Missense_Mutation_p.A96G	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	96	PH; first part.				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)		TTTGCCCTTGGCATCAAGCAA	0.388																																						dbGAP											0													122.0	104.0	110.0					12																	15822677		2203	4300	6503	-	-	-	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.287C>G	12.37:g.15822677G>C	ENSP00000281172:p.Ala96Gly	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.A96G	ENST00000281172.5	37	c.287	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257422	0.80246	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.08	5.08	0.68730	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	M	0.69185	2.1	0.80722	D	1	P	0.42123	0.771	P	0.48334	0.574	T	0.59716	-0.7402	10	0.72032	D	0.01	-11.76	18.8401	0.92180	0.0:0.0:1.0:0.0	.	96	Q12929	EPS8_HUMAN	G	96	ENSP00000441867:A96G;ENSP00000281172:A96G;ENSP00000442388:A96G;ENSP00000445235:A96G;ENSP00000440591:A96G	ENSP00000281172:A96G	A	-	2	0	EPS8	15713944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.803000	0.85983	2.528000	0.85240	0.650000	0.86243	GCC	EPS8	-	pfam_PTB,smart_PTyr_interaction_dom	ENSG00000151491		0.388	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	51	0.00	0	G			15822677	15822677	-1	no_errors	ENST00000281172	ensembl	human	known	69_37n	missense	36	25.00	12	SNP	1.000	C
ERCC4	2072	genome.wustl.edu	37	16	14026115	14026115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:14026115G>T	ENST00000311895.7	+	6	1084	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*	CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000575156.1_Nonsense_Mutation_p.E359*|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	359	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AAAAATATCTGAAAAAATGGA	0.333			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													60.0	65.0	64.0					16																	14026115		2190	4293	6483	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1075G>T	16.37:g.14026115G>T	ENSP00000310520:p.Glu359*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV6|A8K111|O00140|Q8TD83	Nonsense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.E359*	ENST00000311895.7	37	c.1075	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932547	0.73442	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	.	.	.	5.4	5.4	0.78164	.	0.253448	0.46145	D	0.000317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-18.3937	18.5322	0.90996	0.0:0.0:1.0:0.0	.	.	.	.	X	359;348;348	.	ENSP00000310520:E359X	E	+	1	0	ERCC4	13933616	1.000000	0.71417	0.991000	0.47740	0.173000	0.22820	8.061000	0.89467	2.683000	0.91414	0.655000	0.94253	GAA	ERCC4	-	tigrfam_Rad1	ENSG00000175595		0.333	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	47	0.00	0	G	NM_005236		14026115	14026115	+1	no_errors	ENST00000311895	ensembl	human	known	69_37n	nonsense	68	19.77	17	SNP	1.000	T
ESRP1	54845	genome.wustl.edu	37	8	95654199	95654199	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:95654199G>A	ENST00000433389.2	+	2	338	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	RP11-22C11.2_ENST00000562760.1_RNA|ESRP1_ENST00000423620.2_Missense_Mutation_p.E50K|ESRP1_ENST00000358397.5_Missense_Mutation_p.E50K|ESRP1_ENST00000454170.2_Missense_Mutation_p.E50K	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	50					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ACAGTTGCACGAAGTGCTAGT	0.567																																						dbGAP											0													64.0	68.0	67.0					8																	95654199		1930	4137	6067	-	-	-	SO:0001583	missense	0			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.148G>A	8.37:g.95654199G>A	ENSP00000405738:p.Glu50Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.E50K	ENST00000433389.2	37	c.148	CCDS47897.1	8	.	.	.	.	.	.	.	.	.	.	G	8.997	0.979106	0.18812	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.94	4.06	0.47325	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.26268	0.0641	N	0.24115	0.695	0.47737	D	0.999501	B;B;B;B;B	0.12013	0.003;0.005;0.003;0.001;0.001	B;B;B;B;B	0.13407	0.002;0.009;0.001;0.002;0.001	T	0.05616	-1.0874	10	0.07644	T	0.81	-11.6068	12.9411	0.58345	0.0796:0.0:0.9204:0.0	.	50;50;50;50;50	Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;ESRP1_HUMAN	K	50	ENSP00000407349:E50K;ENSP00000405738:E50K;ENSP00000351168:E50K;ENSP00000402766:E50K	ENSP00000351168:E50K	E	+	1	0	ESRP1	95723375	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.353000	0.52247	1.060000	0.40578	-0.140000	0.14226	GAA	ESRP1	-	superfamily_RNaseH-like_dom	ENSG00000104413		0.567	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	23	0.00	0	G	NM_017697		95654199	95654199	+1	no_errors	ENST00000433389	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	1.000	A
ETAA1	54465	genome.wustl.edu	37	2	67624583	67624583	+	Start_Codon_SNP	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:67624583G>C	ENST00000272342.5	+	1	133	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	1						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CATAGGCAATGAGTCGGCGAA	0.587																																						dbGAP											0													21.0	20.0	20.0					2																	67624583		2189	4288	6477	-	-	-	SO:0001582	initiator_codon_variant	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.3G>C	2.37:g.67624583G>C	ENSP00000272342:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BT7|Q53SC4	Missense_Mutation	SNP	NULL	p.M1I	ENST00000272342.5	37	c.3	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323552	0.81580	.	.	ENSG00000143971	ENST00000272342	T	0.19938	2.11	4.97	4.97	0.65823	.	0.045991	0.85682	D	0.000000	T	0.23249	0.0562	.	.	.	0.80722	D	1	P	0.46064	0.872	B	0.41813	0.367	T	0.01684	-1.1296	9	0.87932	D	0	-23.3373	13.9146	0.63890	0.0:0.0:1.0:0.0	.	1	Q9NY74	ETAA1_HUMAN	I	1	ENSP00000272342:M1I	ENSP00000272342:M1I	M	+	3	0	ETAA1	67478087	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	4.326000	0.59241	2.740000	0.93945	0.650000	0.86243	ATG	ETAA1	-	NULL	ENSG00000143971		0.587	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	9	0.00	0	G	NM_019002	Missense_Mutation	67624583	67624583	+1	no_errors	ENST00000272342	ensembl	human	known	69_37n	missense	14	46.15	12	SNP	1.000	C
ETAA1	54465	genome.wustl.edu	37	2	67630796	67630796	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:67630796G>A	ENST00000272342.5	+	5	1112	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	328						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CATTACTAATGAAACTCTGGT	0.383																																						dbGAP											0													52.0	56.0	54.0					2																	67630796		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.982G>A	2.37:g.67630796G>A	ENSP00000272342:p.Glu328Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BT7|Q53SC4	Missense_Mutation	SNP	NULL	p.E328K	ENST00000272342.5	37	c.982	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563850	0.27915	.	.	ENSG00000143971	ENST00000272342	T	0.31769	1.48	5.76	3.01	0.34805	.	0.696719	0.14338	N	0.325904	T	0.25791	0.0628	M	0.66939	2.045	0.21579	N	0.99963	B	0.31318	0.319	B	0.23574	0.047	T	0.19647	-1.0299	10	0.29301	T	0.29	-23.1082	4.9837	0.14180	0.3145:0.1438:0.5418:0.0	.	328	Q9NY74	ETAA1_HUMAN	K	328	ENSP00000272342:E328K	ENSP00000272342:E328K	E	+	1	0	ETAA1	67484300	0.003000	0.15002	0.443000	0.26883	0.868000	0.49771	0.732000	0.26072	0.370000	0.24538	0.585000	0.79938	GAA	ETAA1	-	NULL	ENSG00000143971		0.383	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	23	0.00	0	G	NM_019002		67630796	67630796	+1	no_errors	ENST00000272342	ensembl	human	known	69_37n	missense	29	43.40	23	SNP	0.158	A
EYS	346007	genome.wustl.edu	37	6	64431491	64431491	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:64431491C>A	ENST00000370621.3	-	44	9025	c.8499G>T	c.(8497-8499)atG>atT	p.M2833I	EYS_ENST00000370616.2_Missense_Mutation_p.M2833I|EYS_ENST00000503581.1_Missense_Mutation_p.M2812I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2833	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCAGAGAACTCATTTTAGTGG	0.383																																						dbGAP											0													263.0	207.0	224.0					6																	64431491		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8499G>T	6.37:g.64431491C>A	ENSP00000359655:p.Met2833Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.M2833I	ENST00000370621.3	37	c.8499		6	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852873	0.32699	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.75260	-0.92;-0.92;-0.92	4.85	3.04	0.35103	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.061240	0.64402	U	0.000008	T	0.51193	0.1660	L	0.50333	1.59	0.80722	D	1	B;B	0.32350	0.366;0.263	B;B	0.37650	0.255;0.147	T	0.43845	-0.9366	10	0.20519	T	0.43	.	8.061	0.30633	0.1567:0.7621:0.0:0.0812	.	2812;2833	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	I	2812;2833;2833	ENSP00000424243:M2812I;ENSP00000359655:M2833I;ENSP00000359650:M2833I	ENSP00000359650:M2833I	M	-	3	0	EYS	64489450	1.000000	0.71417	0.212000	0.23672	0.806000	0.45545	3.208000	0.51114	0.447000	0.26695	0.650000	0.86243	ATG	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.383	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	90	0.00	0	C	XM_294050		64431491	64431491	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	92	20.00	23	SNP	0.998	A
FAM114A2	10827	genome.wustl.edu	37	5	153409079	153409079	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:153409079G>C	ENST00000351797.4	-	5	541	c.465C>G	c.(463-465)ttC>ttG	p.F155L	FAM114A2_ENST00000520313.1_Missense_Mutation_p.F85L|FAM114A2_ENST00000520667.1_Missense_Mutation_p.F155L|FAM114A2_ENST00000522858.1_Missense_Mutation_p.F155L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	155							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AGATGGTAGAGAATACACCAA	0.438																																						dbGAP											0													106.0	96.0	100.0					5																	153409079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.465C>G	5.37:g.153409079G>C	ENSP00000341597:p.Phe155Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8D8|Q9H7E0	Missense_Mutation	SNP	pfam_DUF719	p.F155L	ENST00000351797.4	37	c.465	CCDS4323.1	5	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.688853	0.00738	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000433795;ENST00000520313;ENST00000522395;ENST00000523705	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.48	3.7	0.42460	.	0.145429	0.47852	N	0.000207	T	0.06826	0.0174	N	0.00841	-1.15	0.28145	N	0.929638	B;B	0.12630	0.001;0.006	B;B	0.15870	0.005;0.014	T	0.35351	-0.9792	10	0.02654	T	1	-5.0704	3.6602	0.08236	0.2736:0.0:0.4496:0.2768	.	85;155	E7ESJ7;Q9NRY5	.;F1142_HUMAN	L	155;155;155;155;85;155;155	ENSP00000341597:F155L;ENSP00000430489:F155L;ENSP00000430384:F155L;ENSP00000429088:F85L;ENSP00000430186:F155L;ENSP00000428827:F155L	ENSP00000341597:F155L	F	-	3	2	FAM114A2	153389272	0.978000	0.34361	0.764000	0.31436	0.061000	0.15899	0.056000	0.14256	0.688000	0.31529	0.313000	0.20887	TTC	FAM114A2	-	pfam_DUF719	ENSG00000055147		0.438	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	44	0.00	0	G	NM_018691		153409079	153409079	-1	no_errors	ENST00000351797	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	0.997	C
AMER1	139285	genome.wustl.edu	37	X	63412320	63412320	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:63412320C>G	ENST00000330258.3	-	2	1119	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	AMER1_ENST00000374869.3_Missense_Mutation_p.E283Q|AMER1_ENST00000403336.1_Missense_Mutation_p.E283Q	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	283					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTATGGGGCTCCTCTAGGCTA	0.557																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											86.0	87.0	87.0					X																	63412320		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.847G>C	X.37:g.63412320C>G	ENSP00000329117:p.Glu283Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E283Q	ENST00000330258.3	37	c.847	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	C	9.456	1.091945	0.20471	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.16743	2.32;2.32;2.32	5.22	5.22	0.72569	.	0.201875	0.41396	D	0.000886	T	0.35799	0.0944	M	0.63428	1.95	0.09310	N	1	D	0.63880	0.993	P	0.60012	0.867	T	0.09907	-1.0653	10	0.42905	T	0.14	-17.5949	16.5355	0.84372	0.0:1.0:0.0:0.0	.	283	Q5JTC6	F123B_HUMAN	Q	283	ENSP00000364003:E283Q;ENSP00000329117:E283Q;ENSP00000384722:E283Q	ENSP00000329117:E283Q	E	-	1	0	FAM123B	63329045	0.001000	0.12720	0.352000	0.25734	0.037000	0.13140	1.186000	0.32078	2.562000	0.86427	0.600000	0.82982	GAG	FAM123B	-	pfam_Uncharacterised_FAM123	ENSG00000184675		0.557	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	32	0.00	0	C	NM_152424		63412320	63412320	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	missense	36	30.77	16	SNP	0.139	G
FAM171B	165215	genome.wustl.edu	37	2	187626849	187626849	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:187626849C>T	ENST00000304698.5	+	8	1983	c.1780C>T	c.(1780-1782)Cat>Tat	p.H594Y		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	594						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATTCATTCTCATGCACAGCC	0.478																																						dbGAP											0													77.0	75.0	76.0					2																	187626849		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1780C>T	2.37:g.187626849C>T	ENSP00000304108:p.His594Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.H594Y	ENST00000304698.5	37	c.1780	CCDS33347.1	2	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138237	0.56936	.	.	ENSG00000144369	ENST00000304698	T	0.34072	1.38	5.76	5.76	0.90799	.	0.304858	0.36893	N	0.002346	T	0.48241	0.1489	L	0.57536	1.79	0.43971	D	0.996652	P;P	0.39157	0.662;0.662	P;P	0.45377	0.478;0.478	T	0.46978	-0.9152	10	0.87932	D	0	-11.5675	19.9857	0.97347	0.0:1.0:0.0:0.0	.	594;595	Q6P995;A8K122	F171B_HUMAN;.	Y	594	ENSP00000304108:H594Y	ENSP00000304108:H594Y	H	+	1	0	FAM171B	187335094	1.000000	0.71417	0.922000	0.36590	0.798000	0.45092	3.303000	0.51858	2.706000	0.92434	0.655000	0.94253	CAT	FAM171B	-	pfam_Uncharacterised_FAM171	ENSG00000144369		0.478	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1	20	0.00	0	C	NM_177454		187626849	187626849	+1	no_errors	ENST00000304698	ensembl	human	known	69_37n	missense	34	35.85	19	SNP	0.991	T
FAM173B	134145	genome.wustl.edu	37	5	10236621	10236621	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:10236621G>A	ENST00000511437.1	-	3	425	c.413C>T	c.(412-414)tCt>tTt	p.S138F	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.S138F|FAM173B_ENST00000510052.1_Intron	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	138						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AAATTTGGCAGATCCATGCAC	0.413																																						dbGAP											0													79.0	77.0	77.0					5																	10236621		1855	4102	5957	-	-	-	SO:0001583	missense	0				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.413C>T	5.37:g.10236621G>A	ENSP00000422338:p.Ser138Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	NULL	p.S138F	ENST00000511437.1	37	c.413	CCDS43301.1	5	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820370	0.50633	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.22336	1.96;1.96	5.23	3.27	0.37495	.	0.394979	0.27866	N	0.017536	T	0.23572	0.0570	M	0.79475	2.455	0.09310	N	1	P;P	0.45715	0.865;0.855	B;B	0.42738	0.307;0.396	T	0.31613	-0.9937	10	0.59425	D	0.04	-7.7492	2.7775	0.05351	0.0989:0.1405:0.477:0.2835	.	138;138	E9PBZ4;Q6P4H8	.;F173B_HUMAN	F	138	ENSP00000422338:S138F;ENSP00000420876:S138F	ENSP00000420876:S138F	S	-	2	0	FAM173B	10289621	0.387000	0.25188	0.002000	0.10522	0.962000	0.63368	1.836000	0.39191	0.638000	0.30545	0.655000	0.94253	TCT	FAM173B	-	NULL	ENSG00000150756		0.413	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM173B	HGNC	protein_coding	OTTHUMT00000366048.2	24	0.00	0	G	NM_199133		10236621	10236621	-1	no_errors	ENST00000511437	ensembl	human	known	69_37n	missense	36	37.93	22	SNP	0.002	A
FAM189A2	9413	genome.wustl.edu	37	9	71990715	71990715	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:71990715G>C	ENST00000257515.8	+	4	607	c.187G>C	c.(187-189)Gac>Cac	p.D63H	FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.D63H	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	63						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAAGTGCACAGACAAAGAAAA	0.413																																						dbGAP											0													142.0	140.0	141.0					9																	71990715		2203	4300	6503	-	-	-	SO:0001583	missense	0			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.187G>C	9.37:g.71990715G>C	ENSP00000257515:p.Asp63His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	pfam_CD20-like	p.D63H	ENST00000257515.8	37	c.187	CCDS6629.1	9	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017618	0.75161	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	T;T	0.02197	4.4;4.4	5.53	5.53	0.82687	.	0.120379	0.56097	D	0.000024	T	0.05410	0.0143	N	0.14661	0.345	0.44162	D	0.996963	D	0.54397	0.966	P	0.60345	0.873	T	0.54781	-0.8242	10	0.72032	D	0.01	-28.0702	19.0519	0.93050	0.0:0.0:1.0:0.0	.	63	Q15884	F1892_HUMAN	H	63;63;62	ENSP00000395675:D63H;ENSP00000257515:D63H	ENSP00000257515:D63H	D	+	1	0	FAM189A2	71180535	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.595000	0.74109	2.599000	0.87857	0.462000	0.41574	GAC	FAM189A2	-	pfam_CD20-like	ENSG00000135063		0.413	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	HGNC	protein_coding	OTTHUMT00000052576.2	67	0.00	0	G	NM_004816		71990715	71990715	+1	no_errors	ENST00000257515	ensembl	human	known	69_37n	missense	70	13.58	11	SNP	1.000	C
FAM49B	51571	genome.wustl.edu	37	8	130861491	130861491	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:130861491C>T	ENST00000519824.2	-	10	1111	c.838G>A	c.(838-840)Gat>Aat	p.D280N	FAM49B_ENST00000519110.1_Missense_Mutation_p.D280N|FAM49B_ENST00000401979.2_Missense_Mutation_p.D280N|FAM49B_ENST00000522250.1_Missense_Mutation_p.D134N|FAM49B_ENST00000517654.1_Missense_Mutation_p.D280N|FAM49B_ENST00000519540.1_Missense_Mutation_p.D280N|FAM49B_ENST00000522746.1_Missense_Mutation_p.D280N|FAM49B_ENST00000522941.1_Missense_Mutation_p.D134N|FAM49B_ENST00000523509.1_Missense_Mutation_p.D280N	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	280						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TAACTTACATCAATTTTGGAA	0.368																																						dbGAP											0													85.0	82.0	83.0					8																	130861491		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.838G>A	8.37:g.130861491C>T	ENSP00000429150:p.Asp280Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	pfam_DUF1394	p.D280N	ENST00000519824.2	37	c.838	CCDS6361.1	8	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175273	0.78564	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941	T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.54481	0.1861	M	0.68593	2.085	0.80722	D	1	B	0.30686	0.29	B	0.37989	0.262	T	0.51164	-0.8740	10	0.35671	T	0.21	-19.409	18.6619	0.91474	0.0:1.0:0.0:0.0	.	280	Q9NUQ9	FA49B_HUMAN	N	280;280;280;280;134;280;280;280;134	ENSP00000428117:D280N;ENSP00000429802:D280N;ENSP00000384880:D280N;ENSP00000429078:D280N;ENSP00000429978:D134N;ENSP00000429150:D280N;ENSP00000430674:D280N;ENSP00000429499:D280N;ENSP00000430433:D134N	ENSP00000384880:D280N	D	-	1	0	FAM49B	130930673	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.750000	0.85110	2.647000	0.89833	0.460000	0.39030	GAT	FAM49B	-	pfam_DUF1394	ENSG00000153310		0.368	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	HGNC	protein_coding	OTTHUMT00000380390.2	33	0.00	0	C	NM_016623		130861491	130861491	-1	no_errors	ENST00000401979	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	1.000	T
FAM72A	729533	genome.wustl.edu	37	1	206154007	206154007	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:206154007G>A	ENST00000367128.3	+	4	1254	c.406G>A	c.(406-408)Gat>Aat	p.D136N	FAM72A_ENST00000367129.2_Missense_Mutation_p.D136N|FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000341209.5_Missense_Mutation_p.D96N			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	136						mitochondrion (GO:0005739)				endometrium(2)	2						AGAGAGTACAGATGAAGATGT	0.279																																						dbGAP											0													45.0	46.0	46.0					1																	206154007		1568	3572	5140	-	-	-	SO:0001583	missense	0			CR407567	CCDS73016.1	1q32.1	2008-03-26			ENSG00000196550	ENSG00000196550			24044	protein-coding gene	gene with protein product		614710				12477932	Standard	NM_001123168		Approved	MGC57827, RP11-312O7.1	uc001hdr.4	Q5TYM5	OTTHUMG00000042552	ENST00000367128.3:c.406G>A	1.37:g.206154007G>A	ENSP00000356096:p.Asp136Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RV15|Q5TYM4	Missense_Mutation	SNP	NULL	p.D136N	ENST00000367128.3	37	c.406	CCDS41458.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304745	0.60305	.	.	ENSG00000196550	ENST00000367129;ENST00000367128;ENST00000341209	T;T;T	0.33654	1.4;1.4;1.4	3.34	3.34	0.38264	.	0.072466	0.56097	U	0.000036	T	0.42653	0.1212	M	0.67953	2.075	0.40999	D	0.984917	P	0.46784	0.884	P	0.47864	0.559	T	0.44019	-0.9355	10	0.39692	T	0.17	.	12.0647	0.53581	0.0:0.0:1.0:0.0	.	136	Q5TYM5	FA72A_HUMAN	N	136;136;96	ENSP00000356097:D136N;ENSP00000356096:D136N;ENSP00000340661:D96N	ENSP00000340661:D96N	D	+	1	0	FAM72A	204320630	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.997000	0.57016	1.885000	0.54596	0.479000	0.44913	GAT	FAM72A	-	NULL	ENSG00000196550		0.279	FAM72A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM72A	HGNC	protein_coding	OTTHUMT00000100825.1	88	0.00	0	G			206154007	206154007	+1	no_errors	ENST00000367128	ensembl	human	known	69_37n	missense	256	24.12	82	SNP	1.000	A
FAM9A	171482	genome.wustl.edu	37	X	8763373	8763373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:8763373C>A	ENST00000543214.1	-	7	712	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	FAM9A_ENST00000381003.3_Nonsense_Mutation_p.E193*	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	193	Glu-rich.					nucleus (GO:0005634)		p.E193K(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				gcttctgcttcttctgctTCA	0.478																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											76.0	65.0	69.0					X																	8763373		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.577G>T	X.37:g.8763373C>A	ENSP00000440163:p.Glu193*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLH5|Q2M2D1	Nonsense_Mutation	SNP	NULL	p.E193*	ENST00000543214.1	37	c.577	CCDS14131.1	X	.	.	.	.	.	.	.	.	.	.	c	12.88	2.071631	0.36566	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.334	0.334	0.15948	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	193	.	ENSP00000370391:E193X	E	-	1	0	FAM9A	8723373	0.024000	0.19004	0.004000	0.12327	0.005000	0.04900	0.947000	0.29082	0.395000	0.25257	0.396000	0.25979	GAA	FAM9A	-	NULL	ENSG00000183304		0.478	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	HGNC	protein_coding	OTTHUMT00000055697.1	95	0.00	0	C	NM_174951		8763373	8763373	-1	no_errors	ENST00000381003	ensembl	human	known	69_37n	nonsense	60	37.76	37	SNP	0.005	A
FANCA	2175	genome.wustl.edu	37	16	89838157	89838157	+	Missense_Mutation	SNP	C	C	A	rs201589909		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:89838157C>A	ENST00000389301.3	-	23	2110	c.2080G>T	c.(2080-2082)Gac>Tac	p.D694Y	FANCA_ENST00000568369.1_Missense_Mutation_p.D694Y|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	694					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACGCTGCTGTCATCCTCATTG	0.507			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0													166.0	134.0	145.0					16																	89838157		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2080G>T	16.37:g.89838157C>A	ENSP00000373952:p.Asp694Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.D694Y	ENST00000389301.3	37	c.2080	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574220	0.45902	.	.	ENSG00000187741	ENST00000389301	D	0.85484	-1.99	4.45	2.46	0.29980	.	0.889331	0.09613	N	0.778607	D	0.88081	0.6341	L	0.60455	1.87	0.09310	N	1	D;D	0.71674	0.998;0.996	P;P	0.61397	0.888;0.819	T	0.75260	-0.3380	10	0.59425	D	0.04	-5.6545	6.3657	0.21453	0.0:0.7747:0.0:0.2253	.	694;694	B4DRI7;O15360	.;FANCA_HUMAN	Y	694	ENSP00000373952:D694Y	ENSP00000373952:D694Y	D	-	1	0	FANCA	88365658	0.002000	0.14202	0.002000	0.10522	0.009000	0.06853	1.388000	0.34442	1.011000	0.39340	0.551000	0.68910	GAC	FANCA	-	NULL	ENSG00000187741		0.507	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	67	0.00	0	C			89838157	89838157	-1	no_errors	ENST00000389301	ensembl	human	known	69_37n	missense	90	14.29	15	SNP	0.001	A
FARP1	10160	genome.wustl.edu	37	13	99093081	99093081	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:99093081C>T	ENST00000319562.6	+	24	3052	c.2787C>T	c.(2785-2787)atC>atT	p.I929I	FARP1_ENST00000376586.2_Silent_p.I960I|FARP1_ENST00000595437.1_Silent_p.I960I	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	929					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACTTCAGCATCGCAGTGGAGG	0.657																																						dbGAP											0													47.0	34.0	39.0					13																	99093081		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2787C>T	13.37:g.99093081C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JVI9|Q6IQ29	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.I960	ENST00000319562.6	37	c.2880	CCDS9487.1	13																																																																																			FARP1	-	NULL	ENSG00000152767		0.657	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	15	0.00	0	C	NM_005766		99093081	99093081	+1	no_errors	ENST00000376586	ensembl	human	known	69_37n	silent	36	21.74	10	SNP	0.408	T
FARP2	9855	genome.wustl.edu	37	2	242352742	242352742	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:242352742G>A	ENST00000264042.3	+	7	699	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	FARP2_ENST00000373287.4_Missense_Mutation_p.E177K|FARP2_ENST00000545004.1_Missense_Mutation_p.E177K	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	177	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGATTACGATGAAACGCTGGA	0.388																																						dbGAP											0													84.0	69.0	74.0					2																	242352742		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.529G>A	2.37:g.242352742G>A	ENSP00000264042:p.Glu177Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E177K	ENST00000264042.3	37	c.529	CCDS33424.1	2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734726	0.89482	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;T;T	0.32988	1.43;1.43;1.43	5.34	5.34	0.76211	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.122215	0.56097	D	0.000034	T	0.52853	0.1760	M	0.84326	2.69	0.53005	D	0.999968	D;B;P	0.56968	0.978;0.289;0.951	P;B;P	0.56865	0.758;0.186;0.808	T	0.56974	-0.7890	10	0.49607	T	0.09	.	14.6441	0.68748	0.0:0.1451:0.8549:0.0	.	177;177;177	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	K	177	ENSP00000264042:E177K;ENSP00000443876:E177K;ENSP00000362384:E177K	ENSP00000264042:E177K	E	+	1	0	FARP2	242001415	1.000000	0.71417	0.390000	0.26220	0.769000	0.43574	7.004000	0.76317	2.505000	0.84491	0.650000	0.86243	GAA	FARP2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000006607		0.388	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	36	0.00	0	G			242352742	242352742	+1	no_errors	ENST00000264042	ensembl	human	known	69_37n	missense	37	33.93	19	SNP	0.996	A
FASN	2194	genome.wustl.edu	37	17	80051192	80051192	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:80051192C>T	ENST00000306749.2	-	5	776	c.558G>A	c.(556-558)ggG>ggA	p.G186G		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	186	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CATTGATGCCCCCCACGATGG	0.657																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													41.0	30.0	34.0					17																	80051192		2182	4285	6467	-	-	-	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.558G>A	17.37:g.80051192C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.G186	ENST00000306749.2	37	c.558	CCDS11801.1	17																																																																																			FASN	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom	ENSG00000169710		0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	18	0.00	0	C	NM_004104		80051192	80051192	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	silent	27	18.18	6	SNP	0.007	T
FAT1	2195	genome.wustl.edu	37	4	187540106	187540106	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:187540106C>T	ENST00000441802.2	-	10	7843	c.7634G>A	c.(7633-7635)aGa>aAa	p.R2545K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2545	Cadherin 23. {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						TATCTGTCCTCTCTCATTTAT	0.403										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													70.0	65.0	67.0					4																	187540106		1827	4085	5912	-	-	-	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.7634G>A	4.37:g.187540106C>T	ENSP00000406229:p.Arg2545Lys	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.R2545K	ENST00000441802.2	37	c.7634	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	5.108	0.205543	0.09704	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01647	4.71	5.2	2.58	0.30949	Cadherin (4);Cadherin-like (1);	0.305221	0.39985	N	0.001203	T	0.01558	0.0050	N	0.11756	0.17	0.35599	D	0.80768	B	0.25235	0.121	B	0.33521	0.165	T	0.55988	-0.8053	10	0.31617	T	0.26	.	10.6291	0.45525	0.0:0.794:0.0:0.206	.	2545	Q14517	FAT1_HUMAN	K	2545;2547	ENSP00000406229:R2545K	ENSP00000260147:R2547K	R	-	2	0	FAT1	187777100	1.000000	0.71417	0.584000	0.28653	0.479000	0.33129	2.360000	0.44151	0.459000	0.27016	-0.768000	0.03414	AGA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.403	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	44	0.00	0	C	NM_005245		187540106	187540106	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	27	37.21	16	SNP	0.971	T
FAT2	2196	genome.wustl.edu	37	5	150901470	150901470	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:150901470C>G	ENST00000261800.5	-	18	10696	c.10684G>C	c.(10684-10686)Gac>Cac	p.D3562H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3562	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAGCGTGTCCTGGGGGTCT	0.597																																						dbGAP											0													96.0	85.0	89.0					5																	150901470		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10684G>C	5.37:g.150901470C>G	ENSP00000261800:p.Asp3562His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D3562H	ENST00000261800.5	37	c.10684	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.134766|4.134766	0.77662|0.77662	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.39229|.	1.09|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Cadherin (3);Cadherin-like (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	D|D	0.83188|0.83188	0.5200|0.5200	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.84327|0.84327	0.0519|0.0519	10|5	0.72032|.	D|.	0.01|.	.|.	19.5013|19.5013	0.95095|0.95095	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3562;753|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	H|A	3562|420	ENSP00000261800:D3562H|.	ENSP00000261800:D3562H|.	D|G	-|-	1|2	0|0	FAT2|FAT2	150881663|150881663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.639000|0.639000	0.38242|0.38242	7.713000|7.713000	0.84693|0.84693	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	GAC|GGA	FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	24	0.00	0	C	NM_001447		150901470	150901470	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	G
FBF1	85302	genome.wustl.edu	37	17	73922234	73922234	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:73922234G>A	ENST00000586717.1	-	11	976	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	FBF1_ENST00000389570.4_Missense_Mutation_p.R235C|FBF1_ENST00000319129.5_Missense_Mutation_p.R235C			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	235					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CGAGCAGGGCGAGGCCCTTCC	0.647																																						dbGAP											0													15.0	18.0	17.0					17																	73922234		2005	4156	6161	-	-	-	SO:0001583	missense	0			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.703C>T	17.37:g.73922234G>A	ENSP00000465132:p.Arg235Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	superfamily_HRDC-like	p.R235C	ENST00000586717.1	37	c.703		17	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685359	0.88639	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.22539	1.95;1.95	5.43	4.46	0.54185	.	.	.	.	.	T	0.39118	0.1066	L	0.56769	1.78	0.42079	D	0.991242	D;D;D	0.89917	0.998;1.0;0.999	P;P;P	0.62184	0.731;0.899;0.804	T	0.29150	-1.0021	9	0.72032	D	0.01	-3.3056	13.5985	0.62004	0.0754:0.0:0.9246:0.0	.	249;235;235	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	C	235;235;235;248	ENSP00000374221:R235C;ENSP00000324292:R235C	ENSP00000324292:R235C	R	-	1	0	FBF1	71433829	1.000000	0.71417	0.980000	0.43619	0.921000	0.55340	2.444000	0.44890	1.283000	0.44513	0.561000	0.74099	CGC	FBF1	-	NULL	ENSG00000188878		0.647	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	11	0.00	0	G	NM_001080542		73922234	73922234	-1	no_errors	ENST00000389570	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127610376	127610376	+	Splice_Site	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:127610376C>G	ENST00000508053.1	-	66	8569		c.e66-1		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)		TCATCAAGGTCTGAAATTAGA	0.448																																						dbGAP											0													68.0	69.0	69.0					5																	127610376		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.7595-1G>C	5.37:g.127610376C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU01|Q59ES6	Splice_Site	SNP	-	e60-1	ENST00000508053.1	37	c.7595-1	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131794	0.77662	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6729	0.91518	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127638275	1.000000	0.71417	0.999000	0.59377	0.767000	0.43475	7.609000	0.82925	2.701000	0.92244	0.585000	0.79938	.	FBN2	-	-	ENSG00000138829		0.448	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	28	0.00	0	C	NM_001999	Intron	127610376	127610376	-1	no_errors	ENST00000262464	ensembl	human	known	69_37n	splice_site	38	15.56	7	SNP	1.000	G
FBXL13	222235	genome.wustl.edu	37	7	102572360	102572360	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:102572360C>G	ENST00000313221.4	-	9	1171	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.E249Q|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000456695.1_Missense_Mutation_p.E249Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.E249Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379306.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000455112.2_Missense_Mutation_p.E249Q	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	249										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ACATTCAACTCTTGCAAGTTC	0.353																																						dbGAP											0													134.0	115.0	122.0					7																	102572360		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.745G>C	7.37:g.102572360C>G	ENSP00000321927:p.Glu249Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.E249Q	ENST00000313221.4	37	c.745	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639759	0.87760	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.03181	4.32;4.32;4.02;4.32;4.32;4.32;4.02;4.32	5.71	5.71	0.89125	.	0.301114	0.30036	N	0.010570	T	0.13628	0.0330	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.71674	0.977;0.998;0.987;0.981	P;D;P;D	0.67231	0.848;0.95;0.809;0.924	T	0.00178	-1.1951	10	0.56958	D	0.05	.	18.0288	0.89277	0.0:1.0:0.0:0.0	.	249;249;249;249	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	Q	249	ENSP00000377367:E249Q;ENSP00000368610:E249Q;ENSP00000368608:E249Q;ENSP00000368607:E249Q;ENSP00000388608:E249Q;ENSP00000321927:E249Q;ENSP00000409716:E249Q;ENSP00000391550:E249Q	ENSP00000321927:E249Q	E	-	1	0	FBXL13	102359596	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.459000	0.53021	2.683000	0.91414	0.655000	0.94253	GAG	FBXL13	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000161040		0.353	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	50	0.00	0	C	NM_145032		102572360	102572360	-1	no_errors	ENST00000313221	ensembl	human	known	69_37n	missense	61	27.91	24	SNP	1.000	G
FER1L6	654463	genome.wustl.edu	37	8	125076647	125076647	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:125076647C>A	ENST00000522917.1	+	26	3594	c.3388C>A	c.(3388-3390)Ccc>Acc	p.P1130T	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1130T|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1130						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCCCAGGATCCCCCAGCAGA	0.577																																						dbGAP											0													111.0	121.0	118.0					8																	125076647		2028	4184	6212	-	-	-	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3388C>A	8.37:g.125076647C>A	ENSP00000428280:p.Pro1130Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P1130T	ENST00000522917.1	37	c.3388	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	C	0.225	-1.025299	0.02061	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80566	-1.39;-1.39	5.14	3.3	0.37823	.	1.116480	0.07204	U	0.858033	T	0.71256	0.3318	L	0.38175	1.15	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.52801	-0.8527	10	0.14656	T	0.56	-1.4034	8.4024	0.32594	0.1766:0.6532:0.1702:0.0	.	1130	Q2WGJ9	FR1L6_HUMAN	T	1130	ENSP00000428280:P1130T;ENSP00000381982:P1130T	ENSP00000381982:P1130T	P	+	1	0	FER1L6	125145828	0.000000	0.05858	0.004000	0.12327	0.041000	0.13682	0.196000	0.17176	0.527000	0.28560	0.462000	0.41574	CCC	FER1L6	-	NULL	ENSG00000214814		0.577	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	38	0.00	0	C	NM_001039112		125076647	125076647	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	0.004	A
FGD5	152273	genome.wustl.edu	37	3	14939068	14939068	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:14939068G>A	ENST00000285046.5	+	5	2911	c.2801G>A	c.(2800-2802)aGa>aAa	p.R934K	FGD5_ENST00000543601.1_Missense_Mutation_p.R693K|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	934	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CATGAAGGCAGAGACACATTG	0.557																																						dbGAP											0													66.0	64.0	65.0					3																	14939068		1995	4175	6170	-	-	-	SO:0001583	missense	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2801G>A	3.37:g.14939068G>A	ENSP00000285046:p.Arg934Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R934K	ENST00000285046.5	37	c.2801	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	3.090	-0.187096	0.06299	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.61274	0.12;0.12	4.73	2.47	0.30058	Dbl homology (DH) domain (5);	0.581323	0.15429	N	0.262803	T	0.25865	0.0630	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.08055	0.002;0.003	T	0.19192	-1.0313	10	0.08599	T	0.76	-11.1654	3.8066	0.08780	0.5585:0.0:0.4415:0.0	.	693;934	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	K	934;693	ENSP00000285046:R934K;ENSP00000445949:R693K	ENSP00000285046:R934K	R	+	2	0	FGD5	14914072	0.988000	0.35896	0.193000	0.23327	0.761000	0.43186	0.328000	0.19681	0.892000	0.36259	0.591000	0.81541	AGA	FGD5	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000154783		0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	53	0.00	0	G	NM_152536		14939068	14939068	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	missense	35	53.85	42	SNP	0.007	A
FILIP1	27145	genome.wustl.edu	37	6	76023499	76023499	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:76023499C>T	ENST00000237172.7	-	5	2379	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	FILIP1_ENST00000370020.1_Silent_p.E584E|FILIP1_ENST00000393004.2_Silent_p.E683E|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	683										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GGTGCTTGATCTCCTCTAGTT	0.423																																						dbGAP											0													225.0	223.0	224.0					6																	76023499		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2049G>A	6.37:g.76023499C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.E683	ENST00000237172.7	37	c.2049	CCDS4984.1	6																																																																																			FILIP1	-	NULL	ENSG00000118407		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	74	0.00	0	C	XM_029179		76023499	76023499	-1	no_errors	ENST00000237172	ensembl	human	known	69_37n	silent	58	34.83	31	SNP	1.000	T
FLNC	2318	genome.wustl.edu	37	7	128477783	128477783	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:128477783G>A	ENST00000325888.8	+	5	1204	c.943G>A	c.(943-945)Gag>Aag	p.E315K	FLNC_ENST00000346177.6_Missense_Mutation_p.E315K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	315					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTCTACATCGAGGACCCTGA	0.642																																						dbGAP											0													13.0	15.0	14.0					7																	128477783		2092	4215	6307	-	-	-	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.943G>A	7.37:g.128477783G>A	ENSP00000327145:p.Glu315Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E315K	ENST00000325888.8	37	c.943	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.757633	0.96898	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84298	-1.83;-1.83	5.52	5.52	0.82312	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91828	0.7414	M	0.67517	2.055	0.54753	D	0.999982	D;D	0.89917	1.0;0.99	D;P	0.85130	0.997;0.657	D	0.92329	0.5872	10	0.87932	D	0	.	18.4844	0.90823	0.0:0.0:1.0:0.0	.	315;315	Q14315-2;Q14315	.;FLNC_HUMAN	K	315	ENSP00000327145:E315K;ENSP00000344002:E315K	ENSP00000327145:E315K	E	+	1	0	FLNC	128265019	1.000000	0.71417	0.978000	0.43139	0.970000	0.65996	7.965000	0.87945	2.617000	0.88574	0.650000	0.86243	GAG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	10	0.00	0	G			128477783	128477783	+1	no_errors	ENST00000325888	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	A
FMNL2	114793	genome.wustl.edu	37	2	153473673	153473673	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:153473673C>G	ENST00000288670.9	+	13	1648	c.1281C>G	c.(1279-1281)ctC>ctG	p.L427L	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	427	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)		p.L427L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAAAGCAACTCATGCAGAGGA	0.443																																						dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											134.0	129.0	131.0					2																	153473673		1967	4161	6128	-	-	-	SO:0001819	synonymous_variant	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1281C>G	2.37:g.153473673C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	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,prints_Wilms_tumour	p.L427	ENST00000288670.9	37	c.1281	CCDS46429.1	2																																																																																			FMNL2	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000157827		0.443	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333582.2	41	0.00	0	C	NM_052905		153473673	153473673	+1	no_errors	ENST00000288670	ensembl	human	known	69_37n	silent	53	39.08	34	SNP	0.998	G
FN3KRP	79672	genome.wustl.edu	37	17	80680683	80680683	+	Missense_Mutation	SNP	G	G	A	rs139582864	byFrequency	TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:80680683G>A	ENST00000269373.6	+	4	462	c.389G>A	c.(388-390)aGa>aAa	p.R130K	FN3KRP_ENST00000535965.1_Missense_Mutation_p.R80K	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	130							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTGCAAGGGAGAGGAGGTGGG	0.557																																						dbGAP											0													181.0	155.0	164.0					17																	80680683		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.389G>A	17.37:g.80680683G>A	ENSP00000269373:p.Arg130Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969F4|Q9H0U7	Missense_Mutation	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.R130K	ENST00000269373.6	37	c.389	CCDS11817.1	17	.	.	.	.	.	.	.	.	.	.	G	2.602	-0.292676	0.05568	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.40476	1.03;1.04	5.82	-8.2	0.01045	Protein kinase-like domain (1);	0.226336	0.51477	N	0.000088	T	0.15435	0.0372	N	0.12182	0.205	0.24765	N	0.992909	B	0.02656	0.0	B	0.06405	0.002	T	0.35176	-0.9799	10	0.02654	T	1	-7.1582	13.6059	0.62048	0.8076:0.0931:0.0992:0.0	.	130	Q9HA64	KT3K_HUMAN	K	130;80	ENSP00000269373:R130K;ENSP00000444994:R80K	ENSP00000269373:R130K	R	+	2	0	FN3KRP	78273972	1.000000	0.71417	0.322000	0.25334	0.110000	0.19582	1.431000	0.34925	-1.340000	0.02227	-0.768000	0.03414	AGA	FN3KRP	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000141560		0.557	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3KRP	HGNC	protein_coding	OTTHUMT00000439219.1	85	0.00	0	G	NM_024619		80680683	80680683	+1	no_errors	ENST00000269373	ensembl	human	known	69_37n	missense	91	28.35	36	SNP	0.990	A
FNBP1L	54874	genome.wustl.edu	37	1	93998592	93998592	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:93998592G>C	ENST00000271234.7	+	8	904	c.753G>C	c.(751-753)atG>atC	p.M251I	FNBP1L_ENST00000370253.2_Missense_Mutation_p.M251I|FNBP1L_ENST00000604705.1_Missense_Mutation_p.M251I|FNBP1L_ENST00000260506.8_Missense_Mutation_p.M251I|FNBP1L_ENST00000370256.4_Missense_Mutation_p.M251I	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	251	F-BAR domain. {ECO:0000250}.|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)		TGGAAGGAATGATTCTTGCAG	0.358																																						dbGAP											0													99.0	96.0	97.0					1																	93998592		1860	4104	5964	-	-	-	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.753G>C	1.37:g.93998592G>C	ENSP00000271234:p.Met251Ile	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.M251I	ENST00000271234.7	37	c.753	CCDS53343.1	1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503778	0.44558	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.58	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.27053	0.805	0.58432	D	0.999993	P;P;B	0.52170	0.949;0.951;0.046	D;P;B	0.63381	0.914;0.906;0.013	T	0.08576	-1.0715	10	0.02654	T	1	-13.79	14.8504	0.70292	0.0706:0.0:0.9294:0.0	.	71;251;251	B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.	I	251;251;251;251;118	ENSP00000359278:M251I;ENSP00000271234:M251I;ENSP00000260506:M251I;ENSP00000359275:M251I	ENSP00000260506:M251I	M	+	3	0	FNBP1L	93771180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.174000	0.94824	2.627000	0.88993	0.591000	0.81541	ATG	FNBP1L	-	NULL	ENSG00000137942		0.358	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	FNBP1L	HGNC	protein_coding		19	0.00	0	G	NM_017737		93998592	93998592	+1	no_errors	ENST00000271234	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	1.000	C
FOXO4	4303	genome.wustl.edu	37	X	70316624	70316624	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:70316624C>T	ENST00000374259.3	+	1	578	c.246C>T	c.(244-246)ccC>ccT	p.P82P	FOXO4_ENST00000341558.3_Intron|FOXO4_ENST00000466874.1_Intron	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	82					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GCCCCCAGCCCGGAATCCTGG	0.637																																						dbGAP											0													9.0	9.0	9.0					X																	70316624		1782	4007	5789	-	-	-	SO:0001819	synonymous_variant	0				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.246C>T	X.37:g.70316624C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P82	ENST00000374259.3	37	c.246	CCDS43969.1	X																																																																																			FOXO4	-	NULL	ENSG00000184481		0.637	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	18	0.00	0	C	NM_005938		70316624	70316624	+1	no_errors	ENST00000374259	ensembl	human	known	69_37n	silent	19	44.12	15	SNP	0.450	T
FPGT	8790	genome.wustl.edu	37	1	74665373	74665373	+	Silent	SNP	C	C	T	rs200086357		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:74665373C>T	ENST00000609362.1	+	2	145	c.108C>T	c.(106-108)ttC>ttT	p.F36F	FPGT_ENST00000534056.1_Silent_p.F36F|LRRIQ3_ENST00000370911.3_5'Flank|FPGT-TNNI3K_ENST00000370895.1_Silent_p.F36F|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT-TNNI3K_ENST00000370893.1_Silent_p.F36F|LRRIQ3_ENST00000354431.4_5'Flank|FPGT-TNNI3K_ENST00000370899.3_Silent_p.F36F|FPGT-TNNI3K_ENST00000557284.2_Silent_p.F49F|TNNI3K_ENST00000370891.2_Silent_p.F36F|FPGT_ENST00000370898.3_Silent_p.F49F|FPGT_ENST00000524915.1_3'UTR|FPGT_ENST00000370894.5_Silent_p.F36F|FPGT_ENST00000482102.2_Silent_p.F58F|LRRIQ3_ENST00000370909.2_5'Flank|FPGT_ENST00000467578.2_Silent_p.F49F	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	36					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GTGGAGAATTCTGGGACATAG	0.398																																						dbGAP											0													101.0	101.0	101.0					1																	74665373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.108C>T	1.37:g.74665373C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F36	ENST00000609362.1	37	c.108	CCDS663.1	1																																																																																			FPGT-TNNI3K	-	NULL	ENSG00000116783		0.398	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT-TNNI3K	HGNC	protein_coding		45	0.00	0	C			74665373	74665373	+1	no_errors	ENST00000370891	ensembl	human	known	69_37n	silent	80	30.43	35	SNP	1.000	T
FREM1	158326	genome.wustl.edu	37	9	14868860	14868860	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:14868860G>C	ENST00000380880.3	-	2	899	c.116C>G	c.(115-117)tCt>tGt	p.S39C	FREM1_ENST00000380881.4_Missense_Mutation_p.S39C|FREM1_ENST00000422223.2_Missense_Mutation_p.S39C			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	39					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGGAAGGCAGAGTGGCCCTT	0.572																																						dbGAP											0													43.0	46.0	45.0					9																	14868860		2009	4174	6183	-	-	-	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.116C>G	9.37:g.14868860G>C	ENSP00000370262:p.Ser39Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.S39C	ENST00000380880.3	37	c.116	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353231	0.41700	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.13538	2.58;2.58;2.58	5.36	5.36	0.76844	.	0.337808	0.31859	N	0.006945	T	0.39835	0.1093	M	0.82630	2.6	0.39671	D	0.970752	D	0.89917	1.0	D	0.69142	0.962	T	0.38802	-0.9644	10	0.62326	D	0.03	-10.9434	14.6721	0.68951	0.0:0.145:0.855:0.0	.	39	Q5H8C1	FREM1_HUMAN	C	39	ENSP00000370263:S39C;ENSP00000412940:S39C;ENSP00000370262:S39C	ENSP00000370257:S39C	S	-	2	0	FREM1	14858860	1.000000	0.71417	0.687000	0.30102	0.010000	0.07245	7.381000	0.79718	2.521000	0.84997	0.563000	0.77884	TCT	FREM1	-	NULL	ENSG00000164946		0.572	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	22	0.00	0	G	NM_144966		14868860	14868860	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	19	40.62	13	SNP	0.992	C
FRYL	285527	genome.wustl.edu	37	4	48636338	48636338	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:48636338C>G	ENST00000503238.1	-	1	89	c.90G>C	c.(88-90)aaG>aaC	p.K30N	FRYL_ENST00000514783.1_5'Flank|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.K30N|FRYL_ENST00000507711.1_Missense_Mutation_p.K30N|FRYL_ENST00000537810.1_Missense_Mutation_p.K30N			O94915	FRYL_HUMAN	FRY-like	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.K30N(1)		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						CTTCAATTTTCTTTTCAGCTT	0.353																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											116.0	107.0	110.0					4																	48636338		1855	4094	5949	-	-	-	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.90G>C	4.37:g.48636338C>G	ENSP00000426064:p.Lys30Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K30N	ENST00000503238.1	37	c.90	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126329	0.56721	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000505759	T;T;T;T	0.46451	1.87;1.87;1.87;0.87	5.0	4.14	0.48551	.	0.000000	0.64402	U	0.000001	T	0.43986	0.1272	N	0.22421	0.69	0.80722	D	1	P;P;B	0.51057	0.941;0.455;0.26	P;B;B	0.56960	0.81;0.137;0.054	T	0.33752	-0.9856	10	0.42905	T	0.14	.	14.268	0.66133	0.0:0.9239:0.0:0.0761	.	81;30;30	Q6ZNE6;F2Z2S2;O94915	.;.;FRYL_HUMAN	N	30;30;30;30;122	ENSP00000426064:K30N;ENSP00000351113:K30N;ENSP00000441114:K30N;ENSP00000421584:K30N	ENSP00000351113:K30N	K	-	3	2	FRYL	48331095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.711000	0.54868	2.475000	0.83589	0.650000	0.86243	AAG	FRYL	-	NULL	ENSG00000075539		0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	84	0.00	0	C			48636338	48636338	-1	no_errors	ENST00000358350	ensembl	human	known	69_37n	missense	78	37.10	46	SNP	1.000	G
FSD1L	83856	genome.wustl.edu	37	9	108297397	108297397	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:108297397G>C	ENST00000481272.1	+	12	1295	c.1176G>C	c.(1174-1176)caG>caC	p.Q392H	FSD1L_ENST00000374710.3_Missense_Mutation_p.Q360H|FSD1L_ENST00000374707.1_Missense_Mutation_p.Q173H|FSD1L_ENST00000539376.1_Missense_Mutation_p.Q245H|FSD1L_ENST00000394926.3_Missense_Mutation_p.Q371H|FSD1L_ENST00000484973.1_Missense_Mutation_p.Q359H	NM_001145313.1	NP_001138785.1	Q9BXM9	FSD1L_HUMAN	fibronectin type III and SPRY domain containing 1-like	392	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									NS(1)|endometrium(1)	2						TCAAGGCCCAGAAGGATTGTA	0.413																																						dbGAP											0													129.0	102.0	110.0					9																	108297397		692	1591	2283	-	-	-	SO:0001583	missense	0			AF316830	CCDS6765.2, CCDS47999.1, CCDS6765.3, CCDS75870.1	9q31	2013-02-11	2006-03-10	2006-03-10	ENSG00000106701	ENSG00000106701		"""Fibronectin type III domain containing"""	13753	protein-coding gene	gene with protein product		609829	"""cystatin and DUF19 domain containing 1"", ""coiled-coil domain containing 10"""	CSDUFD1, CCDC10, FSD1NL, FSD1CL		11267680	Standard	XM_005252254		Approved		uc004bcq.2	Q9BXM9	OTTHUMG00000020426	ENST00000481272.1:c.1176G>C	9.37:g.108297397G>C	ENSP00000417492:p.Gln392His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A338|A6NKH7|B7Z5S6|B7Z5W3|Q5T879|Q5T880	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.Q245H	ENST00000481272.1	37	c.735	CCDS47999.1	9	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915263	0.33815	.	.	ENSG00000106701	ENST00000374710;ENST00000481272;ENST00000484973;ENST00000394926;ENST00000539376;ENST00000374707	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;2.55;0.12;0.12	5.95	5.95	0.96441	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000001	T	0.58061	0.2096	L	0.54323	1.7	0.51482	D	0.999921	B;B;B	0.24576	0.045;0.06;0.106	B;B;B	0.25405	0.027;0.06;0.052	T	0.54636	-0.8264	10	0.56958	D	0.05	.	19.367	0.94468	0.0:0.0:1.0:0.0	.	371;392;360	F8W946;Q9BXM9;Q9BXM9-2	.;FSD1L_HUMAN;.	H	360;392;359;371;245;173	ENSP00000363842:Q360H;ENSP00000417492:Q392H;ENSP00000419691:Q359H;ENSP00000378384:Q371H;ENSP00000438140:Q245H;ENSP00000363839:Q173H	ENSP00000363839:Q173H	Q	+	3	2	FSD1L	107337218	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.412000	0.52679	2.826000	0.97356	0.563000	0.77884	CAG	FSD1L	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000106701		0.413	FSD1L-007	NOVEL	basic|CCDS	protein_coding	FSD1L	HGNC	protein_coding	OTTHUMT00000349935.1	29	0.00	0	G	NM_207647		108297397	108297397	+1	no_errors	ENST00000539376	ensembl	human	known	69_37n	missense	42	34.85	23	SNP	1.000	C
FUK	197258	genome.wustl.edu	37	16	70506491	70506491	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:70506491C>T	ENST00000288078.6	+	14	1621	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	FUK_ENST00000571514.1_5'UTR|FUK_ENST00000378912.2_Silent_p.F495F	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	463						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTGAATTCTTCAAGAGGACAG	0.617																																						dbGAP											0													57.0	58.0	58.0					16																	70506491		1951	4146	6097	-	-	-	SO:0001819	synonymous_variant	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1389C>T	16.37:g.70506491C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.F495	ENST00000288078.6	37	c.1485	CCDS10891.2	16																																																																																			FUK	-	pfam_Fucokinase	ENSG00000157353		0.617	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	27	0.00	0	C	NM_145059		70506491	70506491	+1	no_errors	ENST00000378912	ensembl	human	known	69_37n	silent	34	18.18	8	SNP	1.000	T
GABBR2	9568	genome.wustl.edu	37	9	101065570	101065570	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:101065570C>G	ENST00000259455.2	-	16	2824	c.2365G>C	c.(2365-2367)Gag>Cag	p.E789Q		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	789					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGTAGGCCCTCCAGGCGGGAT	0.542																																						dbGAP											0													150.0	131.0	138.0					9																	101065570		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2365G>C	9.37:g.101065570C>G	ENSP00000259455:p.Glu789Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.E789Q	ENST00000259455.2	37	c.2365	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174341	0.38413	.	.	ENSG00000136928	ENST00000259455	T	0.78364	-1.17	5.74	5.74	0.90152	.	0.088030	0.85682	D	0.000000	T	0.56790	0.2009	N	0.03608	-0.345	0.58432	D	0.999993	P	0.41673	0.759	B	0.37833	0.259	T	0.60895	-0.7172	10	0.16420	T	0.52	.	17.4184	0.87507	0.0:1.0:0.0:0.0	.	789	O75899	GABR2_HUMAN	Q	789	ENSP00000259455:E789Q	ENSP00000259455:E789Q	E	-	1	0	GABBR2	100105391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.805000	0.86005	2.717000	0.92951	0.505000	0.49811	GAG	GABBR2	-	prints_GPCR_3_GABA_rcpt_B2	ENSG00000136928		0.542	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	90	0.00	0	C			101065570	101065570	-1	no_errors	ENST00000259455	ensembl	human	known	69_37n	missense	104	26.76	38	SNP	1.000	G
GABRA2	2555	genome.wustl.edu	37	4	46264068	46264068	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:46264068C>T	ENST00000510861.1	-	9	1107	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	GABRA2_ENST00000514090.1_Missense_Mutation_p.A312T|GABRA2_ENST00000356504.1_Missense_Mutation_p.A312T|GABRA2_ENST00000381620.4_Missense_Mutation_p.A312T|GABRA2_ENST00000507069.1_Missense_Mutation_p.A312T|GABRA2_ENST00000515082.1_Missense_Mutation_p.A312T|GABRA2_ENST00000540012.1_Missense_Mutation_p.A257T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	312					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAGTCCATGGCAGTTGCATAA	0.413																																						dbGAP											0													137.0	124.0	128.0					4																	46264068		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.934G>A	4.37:g.46264068C>T	ENSP00000421828:p.Ala312Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A257T	ENST00000510861.1	37	c.769	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.404546	0.96051	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.96175	0.9126	10	0.87932	D	0	.	18.4017	0.90519	0.0:1.0:0.0:0.0	.	257;312;312	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	T	312;312;312;312;257;312;312	ENSP00000421828:A312T;ENSP00000421300:A312T;ENSP00000371033:A312T;ENSP00000348897:A312T;ENSP00000444409:A257T;ENSP00000427603:A312T;ENSP00000423840:A312T	ENSP00000348897:A312T	A	-	1	0	GABRA2	45958825	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.765000	0.85310	2.676000	0.91093	0.591000	0.81541	GCC	GABRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000151834		0.413	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	48	0.00	0	C			46264068	46264068	-1	no_errors	ENST00000540012	ensembl	human	known	69_37n	missense	68	13.92	11	SNP	1.000	T
GALNT5	11227	genome.wustl.edu	37	2	158114646	158114646	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:158114646A>C	ENST00000259056.4	+	1	537	c.52A>C	c.(52-54)Atc>Ctc	p.I18L		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	18					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTTGGCATTTATCTTTGTAGC	0.498																																						dbGAP											0													131.0	122.0	125.0					2																	158114646		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.52A>C	2.37:g.158114646A>C	ENSP00000259056:p.Ile18Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I18L	ENST00000259056.4	37	c.52	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543308	0.86022	.	.	ENSG00000136542	ENST00000259056	T	0.62364	0.03	5.36	5.36	0.76844	.	0.532318	0.18261	N	0.146637	T	0.58206	0.2106	L	0.36672	1.1	0.34629	D	0.719378	D	0.53312	0.959	P	0.47744	0.556	T	0.71404	-0.4603	10	0.87932	D	0	.	10.8285	0.46647	0.9235:0.0:0.0764:0.0	.	18	Q7Z7M9	GALT5_HUMAN	L	18	ENSP00000259056:I18L	ENSP00000259056:I18L	I	+	1	0	GALNT5	157822892	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.817000	0.62650	2.157000	0.67596	0.533000	0.62120	ATC	GALNT5	-	NULL	ENSG00000136542		0.498	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	57	0.00	0	A	NM_014568		158114646	158114646	+1	no_errors	ENST00000259056	ensembl	human	known	69_37n	missense	50	28.57	20	SNP	1.000	C
GART	2618	genome.wustl.edu	37	21	34897181	34897181	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:34897181G>A	ENST00000381831.3	-	11	1456	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	GART_ENST00000361093.5_Missense_Mutation_p.S398L|GART_ENST00000381839.3_Missense_Mutation_p.S398L|GART_ENST00000381815.4_Missense_Mutation_p.S398L|GART_ENST00000543717.1_5'Flank	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	398					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CTCAAGGGCTGATATGAGATT	0.488																																						dbGAP											0													139.0	127.0	131.0					21																	34897181		2203	4300	6503	-	-	-	SO:0001583	missense	0			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1193C>T	21.37:g.34897181G>A	ENSP00000371253:p.Ser398Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.S398L	ENST00000381831.3	37	c.1193	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088781	0.20390	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.03	3.29	0.37713	Rudiment single hybrid motif (1);Phosphoribosylglycinamide synthetase, C-domain (2);	0.515836	0.22362	N	0.061073	T	0.39627	0.1085	L	0.60845	1.875	0.23765	N	0.996906	B	0.09022	0.002	B	0.12156	0.007	T	0.36040	-0.9764	10	0.59425	D	0.04	-0.6296	11.5028	0.50448	0.1863:0.0:0.8137:0.0	.	398	P22102	PUR2_HUMAN	L	398	ENSP00000371236:S398L;ENSP00000371253:S398L;ENSP00000371261:S398L;ENSP00000354388:S398L	ENSP00000354388:S398L	S	-	2	0	GART	33819051	0.001000	0.12720	0.002000	0.10522	0.287000	0.27160	1.059000	0.30517	0.452000	0.26830	0.557000	0.71058	TCA	GART	-	pfam_PRibGlycinamide_synth_C-dom,superfamily_Rudment_hybrid_motif,tigrfam_PRibGlycinamide_synth	ENSG00000159131		0.488	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	42	0.00	0	G	NM_000819		34897181	34897181	-1	no_errors	ENST00000381815	ensembl	human	known	69_37n	missense	58	43.69	45	SNP	0.004	A
GCC2	9648	genome.wustl.edu	37	2	109086943	109086943	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:109086943A>T	ENST00000309863.6	+	6	1872	c.1158A>T	c.(1156-1158)aaA>aaT	p.K386N		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	386					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TAGAGTTTAAAATTAATGAAT	0.289																																						dbGAP											0													50.0	56.0	54.0					2																	109086943		2063	4238	6301	-	-	-	SO:0001583	missense	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1158A>T	2.37:g.109086943A>T	ENSP00000307939:p.Lys386Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.K386N	ENST00000309863.6	37	c.1158	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621839	0.46840	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896;ENST00000393318	T	0.65916	-0.18	5.93	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	N	0.24115	0.695	0.46849	D	0.99922	D	0.89917	1.0	D	0.85130	0.997	T	0.61133	-0.7124	10	0.44086	T	0.13	.	7.2769	0.26290	0.7051:0.0:0.2949:0.0	.	386	Q8IWJ2	GCC2_HUMAN	N	386;386;349;131	ENSP00000307939:K386N	ENSP00000307939:K386N	K	+	3	2	GCC2	108453375	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	2.836000	0.48183	1.059000	0.40554	0.533000	0.62120	AAA	GCC2	-	NULL	ENSG00000135968		0.289	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	22	0.00	0	A	NM_014635		109086943	109086943	+1	no_errors	ENST00000309863	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	T
GFI1	2672	genome.wustl.edu	37	1	92948572	92948572	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:92948572C>T	ENST00000370332.1	-	3	465	c.147G>A	c.(145-147)gcG>gcA	p.A49A	GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000294702.5_Silent_p.A49A|GFI1_ENST00000427103.1_Silent_p.A49A	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	49					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCCGGGGCTCCGCCTTCGCCC	0.657																																						dbGAP											0													33.0	42.0	39.0					1																	92948572		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.147G>A	1.37:g.92948572C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N564	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A49	ENST00000370332.1	37	c.147	CCDS30773.1	1																																																																																			GFI1	-	NULL	ENSG00000162676		0.657	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFI1	HGNC	protein_coding	OTTHUMT00000030054.1	26	0.00	0	C	NM_005263		92948572	92948572	-1	no_errors	ENST00000294702	ensembl	human	known	69_37n	silent	18	25.00	6	SNP	1.000	T
GFPT2	9945	genome.wustl.edu	37	5	179755315	179755315	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:179755315G>A	ENST00000253778.8	-	7	727	c.558C>T	c.(556-558)ttC>ttT	p.F186F		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	186	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGACACTCTTGAAAACCAGCG	0.527											OREG0017113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													114.0	112.0	113.0					5																	179755315		2048	4190	6238	-	-	-	SO:0001819	synonymous_variant	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.558C>T	5.37:g.179755315G>A		Somatic	1956	WXS	Illumina GAIIx	Phase_IV	Q53XM2|Q9BWS4	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.F186	ENST00000253778.8	37	c.558	CCDS43411.1	5																																																																																			GFPT2	-	pfam_GATase_dom	ENSG00000131459		0.527	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	57	0.00	0	G	NM_005110		179755315	179755315	-1	no_errors	ENST00000253778	ensembl	human	known	69_37n	silent	68	17.86	15	SNP	1.000	A
GINS2	51659	genome.wustl.edu	37	16	85715277	85715277	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:85715277C>T	ENST00000253462.3	-	3	316	c.216G>A	c.(214-216)gaG>gaA	p.E72E		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	72					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CCCTCATCTTCTCCAACTTTT	0.348																																						dbGAP											0													132.0	126.0	128.0					16																	85715277		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.216G>A	16.37:g.85715277C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUM5|Q6IAG9	Silent	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.E72	ENST00000253462.3	37	c.216	CCDS10953.1	16																																																																																			GINS2	-	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	ENSG00000131153		0.348	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	92	0.00	0	C	NM_016095		85715277	85715277	-1	no_errors	ENST00000253462	ensembl	human	known	69_37n	silent	79	20.00	20	SNP	1.000	T
GJD2	57369	genome.wustl.edu	37	15	35044878	35044878	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:35044878A>G	ENST00000290374.4	-	2	1243	c.767T>C	c.(766-768)tTc>tCc	p.F256S	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	256					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGCAAACATGAACACTAGAAA	0.527																																						dbGAP											0													154.0	121.0	132.0					15																	35044878		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.767T>C	15.37:g.35044878A>G	ENSP00000290374:p.Phe256Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M241|Q9P2R0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.F256S	ENST00000290374.4	37	c.767	CCDS10040.1	15	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927762	0.73327	.	.	ENSG00000159248	ENST00000290374	D	0.96396	-4.0	5.86	5.86	0.93980	Gap junction protein, cysteine-rich domain (1);	0.000000	0.64402	D	0.000001	D	0.98779	0.9589	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99701	1.1004	10	0.87932	D	0	.	16.2538	0.82501	1.0:0.0:0.0:0.0	.	256	Q9UKL4	CXD2_HUMAN	S	256	ENSP00000290374:F256S	ENSP00000290374:F256S	F	-	2	0	GJD2	32832170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.244000	0.73946	0.528000	0.53228	TTC	GJD2	-	pfam_Connexin_CCC,prints_Connexin	ENSG00000159248		0.527	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	HGNC	protein_coding	OTTHUMT00000251875.2	56	0.00	0	A			35044878	35044878	-1	no_errors	ENST00000290374	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	1.000	G
GMNN	51053	genome.wustl.edu	37	6	24785964	24785965	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:24785964_24785965delAG	ENST00000230056.3	+	7	899_900	c.567_568delAG	c.(565-570)tcagaafs	p.E190fs	GMNN_ENST00000356509.3_Frame_Shift_Del_p.E190fs	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	190	Homeodomain binding.				mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						TGGAAGACTCAGAAATTGGCAC	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.567_568delAG	6.37:g.24785964_24785965delAG	ENSP00000230056:p.Glu190fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMM8|Q9H1Z1	Frame_Shift_Del	DEL	pfam_Geminin_fam	p.E190fs	ENST00000230056.3	37	c.567_568	CCDS4560.1	6																																																																																			GMNN	-	pfam_Geminin_fam	ENSG00000112312		0.386	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNN	HGNC	protein_coding	OTTHUMT00000040021.2	38	0.00	0	AG	NM_015895		24785964	24785965	+1	no_errors	ENST00000230056	ensembl	human	known	69_37n	frame_shift_del	43	14.00	7	DEL	0.088:0.092	-
GOLGB1	2804	genome.wustl.edu	37	3	121413701	121413701	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:121413701T>G	ENST00000340645.5	-	13	5779	c.5654A>C	c.(5653-5655)aAa>aCa	p.K1885T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K1890T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1885					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTGAAGCATTTTTAGTTCACC	0.373																																						dbGAP											0													154.0	171.0	165.0					3																	121413701		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5654A>C	3.37:g.121413701T>G	ENSP00000341848:p.Lys1885Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.K1885T	ENST00000340645.5	37	c.5654	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	6.541	0.468007	0.12461	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16196	2.36;2.36	5.92	2.04	0.26737	.	0.000000	0.56097	D	0.000027	T	0.30293	0.0760	M	0.65975	2.015	0.09310	N	1	D;D;B;D	0.89917	1.0;1.0;0.029;0.98	D;D;B;P	0.85130	0.973;0.997;0.027;0.737	T	0.11891	-1.0569	10	0.29301	T	0.29	.	3.6075	0.08048	0.1322:0.0737:0.1379:0.6562	.	1810;1890;1890;1885	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	T	1885;1890	ENSP00000341848:K1885T;ENSP00000377275:K1890T	ENSP00000341848:K1885T	K	-	2	0	GOLGB1	122896391	0.946000	0.32159	0.016000	0.15963	0.491000	0.33493	1.990000	0.40717	0.100000	0.17581	0.528000	0.53228	AAA	GOLGB1	-	NULL	ENSG00000173230		0.373	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	48	0.00	0	T	NM_004487		121413701	121413701	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	39	40.00	26	SNP	0.052	G
GOLIM4	27333	genome.wustl.edu	37	3	167728605	167728605	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:167728605C>G	ENST00000470487.1	-	15	2556	c.1867G>C	c.(1867-1869)Gaa>Caa	p.E623Q	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E595Q	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	623	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTCAAATCTTCCTGAACCTAA	0.328																																						dbGAP											0													126.0	127.0	127.0					3																	167728605		2202	4300	6502	-	-	-	SO:0001583	missense	0			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1867G>C	3.37:g.167728605C>G	ENSP00000417354:p.Glu623Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E623Q	ENST00000470487.1	37	c.1867	CCDS3204.1	3	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827665	0.90955	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.63	5.63	0.86233	.	0.090746	0.85682	D	0.000000	T	0.75657	0.3879	M	0.71581	2.175	0.51012	D	0.9999	D;D	0.76494	0.999;0.996	D;D	0.63703	0.917;0.917	T	0.70483	-0.4859	9	0.18710	T	0.47	-19.5416	17.903	0.88910	0.0:1.0:0.0:0.0	.	595;623	F8W785;O00461	.;GOLI4_HUMAN	Q	623;595	.	ENSP00000309893:E595Q	E	-	1	0	GOLIM4	169211299	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.766000	0.62279	2.657000	0.90304	0.555000	0.69702	GAA	GOLIM4	-	NULL	ENSG00000173905		0.328	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLIM4	HGNC	protein_coding	OTTHUMT00000351278.2	48	0.00	0	C			167728605	167728605	-1	no_errors	ENST00000470487	ensembl	human	known	69_37n	missense	78	39.06	50	SNP	1.000	G
GOLIM4	27333	genome.wustl.edu	37	3	167759237	167759237	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:167759237C>G	ENST00000470487.1	-	6	1232	c.543G>C	c.(541-543)gaG>gaC	p.E181D	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E181D	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	181	Golgi targeting.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTTGTCTATTCTCTTCTCTCA	0.333																																						dbGAP											0													217.0	188.0	198.0					3																	167759237		2203	4300	6503	-	-	-	SO:0001583	missense	0			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.543G>C	3.37:g.167759237C>G	ENSP00000417354:p.Glu181Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E181D	ENST00000470487.1	37	c.543	CCDS3204.1	3	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411134	0.62399	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.58	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	M	0.77103	2.36	0.47949	D	0.999553	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.70350	-0.4896	9	0.27785	T	0.31	-22.1632	9.6256	0.39748	0.0:0.7226:0.0:0.2774	.	181;181	F8W785;O00461	.;GOLI4_HUMAN	D	181	.	ENSP00000309893:E181D	E	-	3	2	GOLIM4	169241931	1.000000	0.71417	0.998000	0.56505	0.709000	0.40893	0.931000	0.28871	0.343000	0.23821	-0.151000	0.13558	GAG	GOLIM4	-	NULL	ENSG00000173905		0.333	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLIM4	HGNC	protein_coding	OTTHUMT00000351278.2	108	0.00	0	C			167759237	167759237	-1	no_errors	ENST00000470487	ensembl	human	known	69_37n	missense	208	23.25	63	SNP	1.000	G
GPI	2821	genome.wustl.edu	37	19	34890129	34890129	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:34890129C>G	ENST00000356487.5	+	15	1528	c.1287C>G	c.(1285-1287)ttC>ttG	p.F429L	GPI_ENST00000415930.3_Missense_Mutation_p.F440L|GPI_ENST00000586425.1_Missense_Mutation_p.F429L|RP11-618P17.4_ENST00000606020.1_5'Flank	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	429					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)	p.F429F(1)|p.F429L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGGCCAACTTCTTGGCCCAGA	0.587																																						dbGAP											2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											33.0	34.0	34.0					19																	34890129		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1287C>G	19.37:g.34890129C>G	ENSP00000348877:p.Phe429Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.F440L	ENST00000356487.5	37	c.1320	CCDS12437.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349465	0.82132	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94046	-3.34;-3.34	6.08	2.71	0.32032	.	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;0.999	D;D;D;D	0.91635	0.973;0.999;0.973;0.974	D	0.95024	0.8163	10	0.87932	D	0	-11.4579	11.0289	0.47761	0.0:0.7922:0.0:0.2078	.	401;440;402;429	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	L	440;429	ENSP00000405573:F440L;ENSP00000348877:F429L	ENSP00000348877:F429L	F	+	3	2	GPI	39581969	1.000000	0.71417	0.966000	0.40874	0.844000	0.47949	1.593000	0.36686	0.402000	0.25451	0.655000	0.94253	TTC	GPI	-	pfam_G6P_Isomerase	ENSG00000105220		0.587	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	16	0.00	0	C			34890129	34890129	+1	no_errors	ENST00000415930	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	1.000	G
GPR116	221395	genome.wustl.edu	37	6	46839704	46839704	+	Silent	SNP	G	G	T	rs376559445		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:46839704G>T	ENST00000283296.7	-	11	1575	c.1287C>A	c.(1285-1287)ctC>ctA	p.L429L	GPR116_ENST00000545669.1_5'Flank|GPR116_ENST00000265417.7_Silent_p.L429L|GPR116_ENST00000362015.4_Silent_p.L429L|GPR116_ENST00000456426.2_Silent_p.L287L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	429	Ig-like 2.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATCAGCCTTGAGGGTGTATC	0.483																																					NSCLC(59;410 1274 8751 36715 50546)	dbGAP											0													125.0	109.0	114.0					6																	46839704		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1287C>A	6.37:g.46839704G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.L429	ENST00000283296.7	37	c.1287	CCDS4919.1	6																																																																																			GPR116	-	pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt	ENSG00000069122		0.483	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	52	0.00	0	G	NM_015234		46839704	46839704	-1	no_errors	ENST00000265417	ensembl	human	known	69_37n	silent	54	29.87	23	SNP	0.124	T
GPR157	80045	genome.wustl.edu	37	1	9171339	9171339	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:9171339C>T	ENST00000377411.4	-	2	735	c.593G>A	c.(592-594)aGa>aAa	p.R198K	GPR157_ENST00000414642.2_Missense_Mutation_p.R198K	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTACCGCTCTGTTGATGTG	0.627											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													67.0	64.0	65.0					1																	9171339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.593G>A	1.37:g.9171339C>T	ENSP00000366628:p.Arg198Lys	Somatic	654	WXS	Illumina GAIIx	Phase_IV	A2A334|Q8WWB8|Q9HA73	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_7TM_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_supfam,pfscan_GPCR_2-like,prints_GCR1-cAMP_receptor	p.R198K	ENST00000377411.4	37	c.593	CCDS100.2	1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413027	0.42817	.	.	ENSG00000180758	ENST00000377411;ENST00000414642	T;T	0.37058	1.22;1.22	5.22	5.22	0.72569	GPCR, family 2-like (1);	0.197808	0.52532	D	0.000068	T	0.46464	0.1394	L	0.54323	1.7	0.22947	N	0.998524	D;B;B	0.58620	0.983;0.051;0.051	P;B;B	0.54499	0.754;0.033;0.018	T	0.43410	-0.9393	10	0.13470	T	0.59	-5.5824	17.7643	0.88473	0.0:1.0:0.0:0.0	.	198;198;198	E7ENU8;A8KA23;Q5UAW9	.;.;GP157_HUMAN	K	198	ENSP00000366628:R198K;ENSP00000411172:R198K	ENSP00000366628:R198K	R	-	2	0	GPR157	9093926	0.996000	0.38824	0.390000	0.26220	0.411000	0.31082	1.524000	0.35942	2.425000	0.82216	0.585000	0.79938	AGA	GPR157	-	pfam_GPCR_2_secretin-like,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_2-like	ENSG00000180758		0.627	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR157	HGNC	protein_coding	OTTHUMT00000127658.2	27	0.00	0	C	NM_024980		9171339	9171339	-1	no_errors	ENST00000377411	ensembl	human	known	69_37n	missense	35	14.29	6	SNP	0.948	T
TNIP1	10318	genome.wustl.edu	37	5	150406533	150406533	+	IGR	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:150406533G>A	ENST00000389378.2	-	0	3268				GPX3_ENST00000388825.4_Missense_Mutation_p.G105E|GPX3_ENST00000517973.1_Missense_Mutation_p.E54K	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1						defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCAATTTGGAAAACAGGAA	0.498																																						dbGAP											0													122.0	124.0	124.0					5																	150406533		2081	4261	6342	-	-	-	SO:0001628	intergenic_variant	0			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025			5.37:g.150406533G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase	p.G105E	ENST00000389378.2	37	c.314	CCDS34280.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.487547|3.487547	0.63962|0.63962	.|.	.|.	ENSG00000211445|ENSG00000211445	ENST00000517973;ENST00000521632;ENST00000520059|ENST00000388825;ENST00000521650	.|T;T	.|0.09911	.|2.93;2.93	5.44|5.44	5.44|5.44	0.79542|0.79542	.|Thioredoxin-like fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47266|0.47266	0.1436|0.1436	H|H	0.95114|0.95114	3.625|3.625	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.62835|0.62835	-0.6770|-0.6770	6|10	0.87932|0.72032	D|D	0|0.01	.|.	17.0557|17.0557	0.86533|0.86533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|105	.|P22352	.|GPX3_HUMAN	K|E	54;75;3|105;114	.|ENSP00000373477:G105E;ENSP00000427873:G114E	ENSP00000429709:E54K|ENSP00000373477:G105E	E|G	+|+	1|2	0|0	GPX3|GPX3	150386726|150386726	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	8.761000|8.761000	0.91691|0.91691	2.545000|2.545000	0.85829|0.85829	0.655000|0.655000	0.94253|0.94253	GAA|GGA	GPX3	-	pfam_Glutathione_peroxidase,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase	ENSG00000211445		0.498	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX3	HGNC	protein_coding	OTTHUMT00000374914.1	47	0.00	0	G	NM_006058		150406533	150406533	+1	pseudogene	ENST00000388825	ensembl	human	known	69_37n	missense	51	16.39	10	SNP	1.000	A
GRIA3	2892	genome.wustl.edu	37	X	122598859	122598859	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:122598859G>A	ENST00000371251.1	+	13	2272	c.2220G>A	c.(2218-2220)atG>atA	p.M740I	GRIA3_ENST00000264357.5_Missense_Mutation_p.M740I|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000542149.1_Missense_Mutation_p.M740I|GRIA3_ENST00000371256.5_Missense_Mutation_p.M740I			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	740					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGTCAACCATGAATGAGTACA	0.488																																						dbGAP											0													133.0	113.0	119.0					X																	122598859		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2220G>A	X.37:g.122598859G>A	ENSP00000360297:p.Met740Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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.M740I	ENST00000371251.1	37	c.2220	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814562	0.50527	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.12	5.12	0.69794	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	N	0.21545	0.675	0.80722	D	1	P;P	0.45531	0.86;0.831	P;P	0.58721	0.844;0.758	T	0.46748	-0.9169	10	0.66056	D	0.02	.	16.5308	0.84357	0.0:0.0:1.0:0.0	.	740;740	P42263;P42263-2	GRIA3_HUMAN;.	I	740	ENSP00000264357:M740I;ENSP00000446146:M740I;ENSP00000360302:M740I;ENSP00000360297:M740I	ENSP00000264357:M740I	M	+	3	0	GRIA3	122426540	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.058000	0.89460	2.104000	0.64026	0.415000	0.27848	ATG	GRIA3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000125675		0.488	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	50	0.00	0	G	NM_000828		122598859	122598859	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	missense	54	29.49	23	SNP	1.000	A
GRIN1	2902	genome.wustl.edu	37	9	140056490	140056490	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:140056490G>A	ENST00000371561.3	+	11	2679	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	GRIN1_ENST00000350902.5_Missense_Mutation_p.E528K|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.E528K|GRIN1_ENST00000371550.4_Missense_Mutation_p.E528K|GRIN1_ENST00000315048.3_Missense_Mutation_p.E528K|GRIN1_ENST00000371546.4_Missense_Mutation_p.E549K|GRIN1_ENST00000371555.4_Missense_Mutation_p.E549K|GRIN1_ENST00000371553.3_Missense_Mutation_p.E549K|GRIN1_ENST00000371560.3_Missense_Mutation_p.E549K	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	528					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCAGTACATCGAGTTTTCCAA	0.627																																					NSCLC(113;717 1653 2089 20474 37618)	dbGAP											0													42.0	34.0	37.0					9																	140056490		2158	4249	6407	-	-	-	SO:0001583	missense	0				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1582G>A	9.37:g.140056490G>A	ENSP00000360616:p.Glu528Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E528K	ENST00000371561.3	37	c.1582	CCDS7031.1	9	.	.	.	.	.	.	.	.	.	.	g	27.3	4.821517	0.90873	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	3.96	3.96	0.45880	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	U	0.000000	T	0.51398	0.1672	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D	0.89917	0.972;0.974;0.965;0.965;0.972;1.0	P;P;P;P;P;D	0.69142	0.627;0.618;0.493;0.615;0.734;0.962	T	0.60239	-0.7302	10	0.72032	D	0.01	.	14.5889	0.68347	0.0:0.0:1.0:0.0	.	549;549;528;528;528;528	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	K	528;528;528;528;549;549;549;528;549	ENSP00000360616:E528K;ENSP00000316696:E528K;ENSP00000316915:E528K;ENSP00000360605:E528K;ENSP00000360601:E549K;ENSP00000360610:E549K;ENSP00000360608:E549K;ENSP00000360614:E528K;ENSP00000360615:E549K	ENSP00000316696:E528K	E	+	1	0	GRIN1	139176311	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.997000	0.93544	1.762000	0.52044	0.450000	0.29827	GAG	GRIN1	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000176884		0.627	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	22	0.00	0	G	NM_007327		140056490	140056490	+1	no_errors	ENST00000371561	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
HCFC2	29915	genome.wustl.edu	37	12	104487278	104487278	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:104487278T>A	ENST00000229330.4	+	10	1503	c.1399T>A	c.(1399-1401)Tct>Act	p.S467T	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	467					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTATATCCATCTTTGGCATC	0.328																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	dbGAP											0													91.0	87.0	88.0					12																	104487278		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1399T>A	12.37:g.104487278T>A	ENSP00000229330:p.Ser467Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S467T	ENST00000229330.4	37	c.1399	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	T	9.070	0.996619	0.19043	.	.	ENSG00000111727	ENST00000229330	T	0.01725	4.67	5.66	0.665	0.17896	Fibronectin, type III (2);	0.694460	0.14591	N	0.310229	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.49273	-0.8957	10	0.16896	T	0.51	-0.4238	4.448	0.11607	0.0:0.2567:0.1616:0.5817	.	467	Q9Y5Z7	HCFC2_HUMAN	T	467	ENSP00000229330:S467T	ENSP00000229330:S467T	S	+	1	0	HCFC2	103011408	0.050000	0.20438	0.000000	0.03702	0.507000	0.33981	0.854000	0.27791	-0.110000	0.12022	0.482000	0.46254	TCT	HCFC2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000111727		0.328	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	47	0.00	0	T	NM_013320		104487278	104487278	+1	no_errors	ENST00000229330	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	0.002	A
HDLBP	3069	genome.wustl.edu	37	2	242179340	242179340	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:242179340C>G	ENST00000391975.1	-	18	2594	c.2367G>C	c.(2365-2367)gaG>gaC	p.E789D	HDLBP_ENST00000427183.2_Missense_Mutation_p.E756D|HDLBP_ENST00000391976.2_Missense_Mutation_p.E789D|HDLBP_ENST00000310931.4_Missense_Mutation_p.E789D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	789	KH 9. {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)		AGGCCTCCAGCTCCTTCTGTG	0.597																																						dbGAP											0													87.0	84.0	85.0					2																	242179340		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.2367G>C	2.37:g.242179340C>G	ENSP00000375836:p.Glu789Asp	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.E789D	ENST00000391975.1	37	c.2367	CCDS2547.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.76|12.76|12.76	2.033382|2.033382|2.033382	0.35893|0.35893|0.35893	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000427487	.|T;T;T;T|.	.|0.46451|.	.|0.87;0.87;0.87;0.87|.	5.38|5.38|5.38	-0.865|-0.865|-0.865	0.10662|0.10662|0.10662	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.72153|0.72153|0.72153	0.3425|0.3425|0.3425	M|M|M	0.83384|0.83384|0.83384	2.64|2.64|2.64	0.54753|0.54753|0.54753	D|D|D	0.999982|0.999982|0.999982	.|B;B|.	.|0.24092|.	.|0.097;0.022|.	.|B;B|.	.|0.31751|.	.|0.135;0.034|.	T|T|T	0.72707|0.72707|0.72707	-0.4212|-0.4212|-0.4212	5|10|5	.|0.17369|.	.|T|.	.|0.5|.	-25.3723|-25.3723|-25.3723	11.0508|11.0508|11.0508	0.47889|0.47889|0.47889	0.0:0.52:0.0:0.48|0.0:0.52:0.0:0.48|0.0:0.52:0.0:0.48	.|.|.	.|756;789|.	.|E7EM71;Q00341|.	.|.;VIGLN_HUMAN|.	P|D|T	598|789;789;789;756|191	.|ENSP00000375836:E789D;ENSP00000375837:E789D;ENSP00000312042:E789D;ENSP00000399139:E756D|.	.|ENSP00000312042:E789D|.	A|E|S	-|-|-	1|3|2	0|2|0	HDLBP|HDLBP|HDLBP	241828013|241828013|241828013	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.422000|0.422000|0.422000	0.26621|0.26621|0.26621	0.437000|0.437000|0.437000	0.31866|0.31866|0.31866	2.681000|2.681000|2.681000	0.46926|0.46926|0.46926	-0.003000|-0.003000|-0.003000	0.14444|0.14444|0.14444	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|GAG|AGC	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.597	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	63	0.00	0	C	NM_203346		242179340	242179340	-1	no_errors	ENST00000310931	ensembl	human	known	69_37n	missense	84	20.00	21	SNP	1.000	G
MROH2B	133558	genome.wustl.edu	37	5	41018851	41018851	+	Missense_Mutation	SNP	A	A	C	rs200254458		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:41018851A>C	ENST00000399564.4	-	26	3065	c.2615T>G	c.(2614-2616)cTt>cGt	p.L872R	MROH2B_ENST00000506092.2_Missense_Mutation_p.L427R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	872																	GGTCTTCAGAAGTTTTCCTAG	0.448																																						dbGAP											0													123.0	120.0	121.0					5																	41018851		1925	4134	6059	-	-	-	SO:0001583	missense	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.2615T>G	5.37:g.41018851A>C	ENSP00000382476:p.Leu872Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L872R	ENST00000399564.4	37	c.2615	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	A	21.0	4.074658	0.76415	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.71817	-0.6;-0.6	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.49916	D	0.000121	D	0.83092	0.5179	M	0.73962	2.25	0.36180	D	0.849348	D	0.89917	1.0	D	0.91635	0.999	D	0.88030	0.2774	10	0.87932	D	0	.	12.9364	0.58316	1.0:0.0:0.0:0.0	.	872	Q7Z745	HTRB2_HUMAN	R	427;577;872	ENSP00000441504:L427R;ENSP00000382476:L872R	ENSP00000296803:L577R	L	-	2	0	HEATR7B2	41054608	1.000000	0.71417	0.710000	0.30468	0.995000	0.86356	4.572000	0.60886	2.311000	0.77944	0.533000	0.62120	CTT	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.448	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	57	0.00	0	A	NM_173489		41018851	41018851	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	missense	77	16.30	15	SNP	0.575	C
HECTD1	25831	genome.wustl.edu	37	14	31642457	31642457	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:31642457C>T	ENST00000399332.1	-	6	1549	c.1061G>A	c.(1060-1062)aGa>aAa	p.R354K	HECTD1_ENST00000553700.1_Missense_Mutation_p.R354K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	354					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACTATCTAATCTCCGGAGTCC	0.453																																						dbGAP											0													131.0	124.0	126.0					14																	31642457		1889	4138	6027	-	-	-	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.1061G>A	14.37:g.31642457C>T	ENSP00000382269:p.Arg354Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.R354K	ENST00000399332.1	37	c.1061	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.069108	0.93950	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.71579	1.02;1.02;-0.58	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	L	0.46157	1.445	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.77262	-0.2653	10	0.52906	T	0.07	-19.7226	20.6525	0.99598	0.0:1.0:0.0:0.0	.	354	Q9ULT8	HECD1_HUMAN	K	354	ENSP00000450697:R354K;ENSP00000382269:R354K;ENSP00000452015:R354K	ENSP00000261312:R354K	R	-	2	0	HECTD1	30712208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.890000	0.99128	0.585000	0.79938	AGA	HECTD1	-	superfamily_ARM-type_fold	ENSG00000092148		0.453	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	43	0.00	0	C			31642457	31642457	-1	no_errors	ENST00000399332	ensembl	human	known	69_37n	missense	35	45.31	29	SNP	1.000	T
HELB	92797	genome.wustl.edu	37	12	66703995	66703995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:66703995G>A	ENST00000247815.4	+	4	1346	c.1287G>A	c.(1285-1287)tgG>tgA	p.W429*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	429					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACCATATTTGGACTAATGGTG	0.418																																						dbGAP											0													124.0	119.0	121.0					12																	66703995		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1287G>A	12.37:g.66703995G>A	ENSP00000247815:p.Trp429*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C9|Q4G0T2|Q9H7L5	Nonsense_Mutation	SNP	NULL	p.W429*	ENST00000247815.4	37	c.1287	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942634	0.73672	.	.	ENSG00000127311	ENST00000247815	.	.	.	5.52	0.91	0.19337	.	1.266710	0.05135	N	0.493236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	2.2685	2.9141	0.05746	0.1545:0.1139:0.4732:0.2584	.	.	.	.	X	429	.	.	W	+	3	0	HELB	64990262	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.440000	0.06888	0.252000	0.21531	0.655000	0.94253	TGG	HELB	-	NULL	ENSG00000127311		0.418	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	34	0.00	0	G			66703995	66703995	+1	no_errors	ENST00000247815	ensembl	human	known	69_37n	nonsense	39	25.00	13	SNP	0.000	A
HELQ	113510	genome.wustl.edu	37	4	84368172	84368172	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:84368172C>G	ENST00000295488.3	-	4	1370	c.1208G>C	c.(1207-1209)aGt>aCt	p.S403T	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	403	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TATACCAAAACTTGACAAACC	0.393								Other identified genes with known or suspected DNA repair function																														dbGAP											0													35.0	35.0	35.0					4																	84368172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1208G>C	4.37:g.84368172C>G	ENSP00000295488:p.Ser403Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S403T	ENST00000295488.3	37	c.1208	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	C	3.514	-0.099124	0.07010	.	.	ENSG00000163312	ENST00000295488	T	0.15017	2.46	5.44	2.74	0.32292	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.271368	0.48767	N	0.000167	T	0.11707	0.0285	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.12502	-1.0545	10	0.17369	T	0.5	-46.0071	6.7649	0.23560	0.1284:0.6655:0.1355:0.0706	.	403	Q8TDG4	HELQ_HUMAN	T	403	ENSP00000295488:S403T	ENSP00000295488:S403T	S	-	2	0	HELQ	84587196	0.993000	0.37304	1.000000	0.80357	0.645000	0.38454	0.896000	0.28377	0.767000	0.33267	0.585000	0.79938	AGT	HELQ	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000163312		0.393	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	27	0.00	0	C	NM_133636		84368172	84368172	-1	no_errors	ENST00000295488	ensembl	human	known	69_37n	missense	20	52.38	22	SNP	1.000	G
HERC6	55008	genome.wustl.edu	37	4	89329723	89329723	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:89329723G>A	ENST00000264346.7	+	11	1381	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K	HERC6_ENST00000380265.5_Missense_Mutation_p.R441K	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	441					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GAAATGGCAAGAGATACCTTC	0.333																																						dbGAP											0													78.0	70.0	73.0					4																	89329723		1838	4095	5933	-	-	-	SO:0001583	missense	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1322G>A	4.37:g.89329723G>A	ENSP00000264346:p.Arg441Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R441K	ENST00000264346.7	37	c.1322	CCDS47098.1	4	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301518	0.40694	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.39406	1.08;1.09	4.36	2.59	0.31030	.	0.419190	0.23293	N	0.049771	T	0.38054	0.1026	M	0.72894	2.215	0.80722	D	1	B;B	0.17268	0.021;0.012	B;B	0.16722	0.016;0.007	T	0.20140	-1.0284	10	0.42905	T	0.14	.	6.0464	0.19762	0.1052:0.1919:0.7029:0.0	.	441;441	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	K	441	ENSP00000369617:R441K;ENSP00000264346:R441K	ENSP00000264346:R441K	R	+	2	0	HERC6	89548746	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	3.038000	0.49783	0.565000	0.29255	0.484000	0.47621	AGA	HERC6	-	NULL	ENSG00000138642		0.333	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	74	0.00	0	G			89329723	89329723	+1	no_errors	ENST00000264346	ensembl	human	known	69_37n	missense	43	29.03	18	SNP	0.999	A
HIP1	3092	genome.wustl.edu	37	7	75192345	75192345	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:75192345G>C	ENST00000336926.6	-	11	940	c.914C>G	c.(913-915)tCa>tGa	p.S305*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.S305*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	305					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						GATATGTTCTGACAGGGCTGA	0.577			T	PDGFRB	CMML																																	dbGAP		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													80.0	76.0	77.0					7																	75192345		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.914C>G	7.37:g.75192345G>C	ENSP00000336747:p.Ser305*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Nonsense_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.S305*	ENST00000336926.6	37	c.914	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.147652	0.97324	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	.	.	.	5.48	5.48	0.80851	.	0.112558	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-9.6323	18.3364	0.90290	0.0:0.0:1.0:0.0	.	.	.	.	X	305	.	ENSP00000336747:S305X	S	-	2	0	HIP1	75030281	1.000000	0.71417	0.985000	0.45067	0.390000	0.30446	9.243000	0.95416	2.572000	0.86782	0.655000	0.94253	TCA	HIP1	-	pfam_ANTH	ENSG00000127946		0.577	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	48	0.00	0	G	NM_005338		75192345	75192345	-1	no_errors	ENST00000336926	ensembl	human	known	69_37n	nonsense	45	38.36	28	SNP	1.000	C
HIST1H2AA	221613	genome.wustl.edu	37	6	25726392	25726392	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:25726392C>G	ENST00000297012.3	-	1	398	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGGTGACTCTCAGTCTTCTTG	0.483																																						dbGAP											0													380.0	329.0	346.0					6																	25726392		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.364G>C	6.37:g.25726392C>G	ENSP00000297012:p.Glu122Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E122Q	ENST00000297012.3	37	c.364	CCDS4562.1	6	.	.	.	.	.	.	.	.	.	.	C	5.120	0.207769	0.09704	.	.	ENSG00000164508	ENST00000297012	T	0.42513	0.97	3.43	1.64	0.23874	Histone-fold (2);Histone H2A (1);	0.131461	0.32444	N	0.006084	T	0.13457	0.0326	L	0.33710	1.025	0.42164	D	0.991618	B	0.16396	0.017	B	0.14023	0.01	T	0.05099	-1.0906	10	0.38643	T	0.18	.	7.525	0.27650	0.0:0.7765:0.0:0.2234	.	122	Q96QV6	H2A1A_HUMAN	Q	122	ENSP00000297012:E122Q	ENSP00000297012:E122Q	E	-	1	0	HIST1H2AA	25834371	1.000000	0.71417	0.074000	0.20217	0.441000	0.31987	5.409000	0.66374	0.464000	0.27142	-0.142000	0.14014	GAG	HIST1H2AA	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000164508		0.483	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AA	HGNC	protein_coding	OTTHUMT00000040065.1	160	0.00	0	C	NM_170745		25726392	25726392	-1	no_errors	ENST00000297012	ensembl	human	known	69_37n	missense	200	22.18	57	SNP	1.000	G
HMGCS1	3157	genome.wustl.edu	37	5	43298179	43298179	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:43298179C>G	ENST00000325110.6	-	4	712	c.506G>C	c.(505-507)aGa>aCa	p.R169T	HMGCS1_ENST00000433297.2_Missense_Mutation_p.R169T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	169					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACCTGTAGGTCTAGCATTTCC	0.398																																						dbGAP											0													106.0	102.0	103.0					5																	43298179		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.506G>C	5.37:g.43298179C>G	ENSP00000322706:p.Arg169Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDL8	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.R169T	ENST00000325110.6	37	c.506	CCDS34154.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.180646	0.94846	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	D;D	0.91237	-2.81;-2.81	5.75	5.75	0.90469	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98818	1.0746	10	0.87932	D	0	-25.5577	19.9392	0.97153	0.0:1.0:0.0:0.0	.	169	Q01581	HMCS1_HUMAN	T	169;169;158	ENSP00000322706:R169T;ENSP00000399402:R169T	ENSP00000322706:R169T	R	-	2	0	HMGCS1	43333936	1.000000	0.71417	0.483000	0.27378	0.999000	0.98932	7.487000	0.81328	2.713000	0.92767	0.655000	0.94253	AGA	HMGCS1	-	pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	ENSG00000112972		0.398	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS1	HGNC	protein_coding	OTTHUMT00000368022.1	37	0.00	0	C			43298179	43298179	-1	no_errors	ENST00000325110	ensembl	human	known	69_37n	missense	60	10.45	7	SNP	1.000	G
HNRNPL	3191	genome.wustl.edu	37	19	39334666	39334666	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:39334666C>T	ENST00000221419.5	-	5	1155	c.789G>A	c.(787-789)ctG>ctA	p.L263L	HNRNPL_ENST00000600873.1_Silent_p.L130L|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	263	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ATTCGATCTTCAGAGTGCAAC	0.517																																						dbGAP											0													154.0	139.0	144.0					19																	39334666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.789G>A	19.37:g.39334666C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND69|A6NIT8|Q9H3P3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L263	ENST00000221419.5	37	c.789	CCDS33015.1	19																																																																																			HNRNPL	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000104824		0.517	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1	47	0.00	0	C			39334666	39334666	-1	no_errors	ENST00000221419	ensembl	human	known	69_37n	silent	54	16.92	11	SNP	1.000	T
HOOK3	84376	genome.wustl.edu	37	8	42823256	42823256	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:42823256G>C	ENST00000307602.4	+	11	1221	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	341					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TAAACTCTTAGAAGAGAAGAA	0.383			T	RET	papillary thyroid																																	dbGAP		Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													86.0	87.0	87.0					8																	42823256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1021G>C	8.37:g.42823256G>C	ENSP00000305699:p.Glu341Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	pfam_HOOK,superfamily_t-SNARE	p.E341Q	ENST00000307602.4	37	c.1021	CCDS6139.1	8	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016131	0.75161	.	.	ENSG00000168172	ENST00000307602	T	0.22539	1.95	5.37	5.37	0.77165	.	0.142961	0.64402	D	0.000009	T	0.30603	0.0770	L	0.28504	0.86	0.58432	D	0.999998	P;B	0.50617	0.937;0.04	P;B	0.56216	0.794;0.078	T	0.00832	-1.1548	10	0.32370	T	0.25	-23.8783	19.0793	0.93175	0.0:0.0:1.0:0.0	.	341;341	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	Q	341	ENSP00000305699:E341Q	ENSP00000305699:E341Q	E	+	1	0	HOOK3	42942413	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.956000	0.87863	2.649000	0.89929	0.655000	0.94253	GAA	HOOK3	-	pfam_HOOK	ENSG00000168172		0.383	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2	32	0.00	0	G	NM_032410		42823256	42823256	+1	no_errors	ENST00000307602	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	1.000	C
HOXD3	3232	genome.wustl.edu	37	2	177033861	177033861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:177033861C>T	ENST00000468418.3	+	3	2109	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	HOXD3_ENST00000410016.1_Nonsense_Mutation_p.Q7*|HOXD3_ENST00000249440.3_Nonsense_Mutation_p.Q7*			P31249	HXD3_HUMAN	homeobox D3	7					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TGAGCAGGGTCAGCAGGCCCT	0.542																																						dbGAP											0													84.0	81.0	82.0					2																	177033861		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.19C>T	2.37:g.177033861C>T	ENSP00000424734:p.Gln7*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99955|Q9BSC5	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Q7*	ENST00000468418.3	37	c.19	CCDS2270.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223979	0.79576	.	.	ENSG00000128652	ENST00000432796;ENST00000468418;ENST00000410016;ENST00000249440	.	.	.	5.32	5.32	0.75619	.	0.221838	0.31884	N	0.006910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	12.6939	0.56992	0.0:0.9241:0.0:0.0759	.	.	.	.	X	7	.	ENSP00000249440:Q7X	Q	+	1	0	HOXD3	176742107	0.034000	0.19679	1.000000	0.80357	0.993000	0.82548	0.240000	0.18042	2.648000	0.89879	0.655000	0.94253	CAG	HOXD3	-	NULL	ENSG00000128652		0.542	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD3	HGNC	protein_coding	OTTHUMT00000334246.4	27	0.00	0	C			177033861	177033861	+1	no_errors	ENST00000249440	ensembl	human	known	69_37n	nonsense	35	14.63	6	SNP	0.999	T
HS6ST3	266722	genome.wustl.edu	37	13	97485350	97485350	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:97485350G>A	ENST00000376705.2	+	2	1338	c.1314G>A	c.(1312-1314)cgG>cgA	p.R438R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	438					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GGGAGGAGCGGAGGCTGCAGC	0.597																																						dbGAP											0													51.0	58.0	55.0					13																	97485350		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1314G>A	13.37:g.97485350G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0L0|Q68CW6	Silent	SNP	pfam_Sulfotransferase	p.R438	ENST00000376705.2	37	c.1314	CCDS9481.1	13																																																																																			HS6ST3	-	NULL	ENSG00000185352		0.597	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST3	HGNC	protein_coding	OTTHUMT00000045517.2	36	0.00	0	G	NM_153456		97485350	97485350	+1	no_errors	ENST00000376705	ensembl	human	known	69_37n	silent	24	31.43	11	SNP	0.977	A
HTRA2	27429	genome.wustl.edu	37	2	74758059	74758059	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:74758059C>T	ENST00000258080.3	+	3	1363	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Intron|HTRA2_ENST00000467961.1_3'UTR	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	245	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CACGCTGCCTCTGGGACGCTC	0.552																																						dbGAP											0													199.0	210.0	207.0					2																	74758059		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.733C>T	2.37:g.74758059C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_PDZ,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.L245	ENST00000258080.3	37	c.733	CCDS1951.1	2																																																																																			HTRA2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	ENSG00000115317		0.552	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA2	HGNC	protein_coding	OTTHUMT00000252219.2	26	0.00	0	C	NM_013247		74758059	74758059	+1	no_errors	ENST00000258080	ensembl	human	known	69_37n	silent	21	46.34	19	SNP	0.994	T
IFNA13	3447	genome.wustl.edu	37	9	21367943	21367943	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:21367943G>C	ENST00000449498.1	-	1	132	c.67C>G	c.(67-69)Ctg>Gtg	p.L23V		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	22					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)|type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TCACAGCCCAGAGAGCAGCTT	0.537																																						dbGAP											0													68.0	75.0	73.0					9																	21367943		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.67C>G	9.37:g.21367943G>C	ENSP00000394494:p.Leu23Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	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.L23V	ENST00000449498.1	37	c.67	CCDS6505.2	9	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044042	0.36085	.	.	ENSG00000233816	ENST00000449498	T	0.04317	3.65	2.56	1.64	0.23874	.	0.000000	0.64402	D	0.000016	T	0.15305	0.0369	M	0.81802	2.56	0.09310	N	1	D	0.67145	0.996	P	0.62184	0.899	T	0.02683	-1.1124	10	0.72032	D	0.01	.	6.7704	0.23591	0.1469:0.0:0.8531:0.0	.	23	E9PB07	.	V	23	ENSP00000394494:L23V	ENSP00000394494:L23V	L	-	1	2	IFNA13	21357943	0.129000	0.22400	0.005000	0.12908	0.010000	0.07245	2.170000	0.42443	0.402000	0.25451	0.313000	0.20887	CTG	IFNA13	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000233816		0.537	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA13	HGNC	protein_coding	OTTHUMT00000051904.2	38	0.00	0	G	NM_006900		21367943	21367943	-1	no_errors	ENST00000449498	ensembl	human	known	69_37n	missense	26	46.00	23	SNP	0.035	C
IARS	3376	genome.wustl.edu	37	9	95009730	95009730	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:95009730C>G	ENST00000375643.3	-	26	2986	c.2720G>C	c.(2719-2721)gGa>gCa	p.G907A	IARS_ENST00000443024.2_Missense_Mutation_p.G907A|IARS_ENST00000375627.1_5'Flank|IARS_ENST00000447699.2_Missense_Mutation_p.G797A|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	907					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CTTAAAGGCTCCCTTCAGACG	0.493																																						dbGAP											0													170.0	138.0	149.0					9																	95009730		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2720G>C	9.37:g.95009730C>G	ENSP00000364794:p.Gly907Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.G907A	ENST00000375643.3	37	c.2720	CCDS6694.1	9	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164709	0.57476	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000449893	T;T;T	0.10960	2.82;2.82;2.82	5.66	5.66	0.87406	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.046747	0.85682	D	0.000000	T	0.17577	0.0422	M	0.72894	2.215	0.80722	D	1	P;B;B	0.35307	0.494;0.002;0.005	B;B;B	0.33254	0.16;0.009;0.005	T	0.01212	-1.1417	10	0.45353	T	0.12	-24.3357	19.3516	0.94389	0.0:1.0:0.0:0.0	.	417;907;752	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	A	907;907;797;907;139	ENSP00000364794:G907A;ENSP00000406448:G907A;ENSP00000415020:G797A	ENSP00000364794:G907A	G	-	2	0	IARS	94049551	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.692000	0.54727	2.671000	0.90904	0.563000	0.77884	GGA	IARS	-	superfamily_tRNAsynth_1a_anticodon-bd	ENSG00000196305		0.493	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	42	0.00	0	C	NM_002161		95009730	95009730	-1	no_errors	ENST00000375643	ensembl	human	known	69_37n	missense	75	20.83	20	SNP	1.000	G
IGHG1	3500	genome.wustl.edu	37	14	106209379	106209379	+	RNA	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:106209379G>A	ENST00000390548.2	-	0	29							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AGGGTGCCAGGGGGAAGACCG	0.672																																						dbGAP											0													32.0	37.0	35.0					14																	106209379		2043	4179	6222	-	-	-			0			J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106209379G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.P10	ENST00000390548.2	37	c.30		14																																																																																			IGHG1	-	pfscan_Ig-like	ENSG00000211896		0.672	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IGHG1	HGNC	IG_C_gene	OTTHUMT00000326504.1	44	0.00	0	G	NG_001019		106209379	106209379	-1	no_start_codon	ENST00000390548	ensembl	human	known	69_37n	silent	38	25.49	13	SNP	0.167	A
IGHV3-64	28414	genome.wustl.edu	37	14	107113972	107113972	+	RNA	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:107113972G>T	ENST00000454421.2	-	0	199									immunoglobulin heavy variable 3-64																		AGGCTGCACAGGAGAGTCTCA	0.557																																						dbGAP											0													112.0	126.0	122.0					14																	107113972		1866	4133	5999	-	-	-			0			M99682		14q32.33	2012-02-08			ENSG00000223648	ENSG00000223648		"""Immunoglobulins / IGH locus"""	5617	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151971		14.37:g.107113972G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S41	ENST00000454421.2	37	c.123		14																																																																																			IGHV3-64	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000223648		0.557	IGHV3-64-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-64	HGNC	IG_V_gene	OTTHUMT00000324617.1	82	0.00	0	G	NG_001019		107113972	107113972	-1	no_stop_codon	ENST00000454421	ensembl	human	known	69_37n	silent	90	16.51	18	SNP	0.995	T
IKBKE	9641	genome.wustl.edu	37	1	206658611	206658611	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:206658611G>A	ENST00000367120.3	+	15	1957	c.1584G>A	c.(1582-1584)gtG>gtA	p.V528V	IKBKE_ENST00000537984.1_Silent_p.V443V	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	528	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGGAGCTGGTGAAGAGCCGGG	0.582																																						dbGAP											0													59.0	52.0	54.0					1																	206658611		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1584G>A	1.37:g.206658611G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT78|Q3B754|Q3KR43|Q5JTS6	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.V528	ENST00000367120.3	37	c.1584	CCDS30996.1	1																																																																																			IKBKE	-	NULL	ENSG00000143466		0.582	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	30	0.00	0	G			206658611	206658611	+1	no_errors	ENST00000367120	ensembl	human	known	69_37n	silent	62	11.43	8	SNP	0.921	A
IL17RD	54756	genome.wustl.edu	37	3	57131939	57131939	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:57131939C>G	ENST00000296318.7	-	12	1880	c.1792G>C	c.(1792-1794)Gag>Cag	p.E598Q	IL17RD_ENST00000320057.5_Missense_Mutation_p.E454Q|IL17RD_ENST00000463523.1_Missense_Mutation_p.E454Q|IL17RD_ENST00000427856.2_Missense_Mutation_p.E574Q	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	598					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAGTCACTCTCAGGCCCTGGT	0.572																																						dbGAP											0													34.0	37.0	36.0					3																	57131939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1792G>C	3.37:g.57131939C>G	ENSP00000296318:p.Glu598Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	pfam_SEFIR,superfamily_TIR_dom	p.E598Q	ENST00000296318.7	37	c.1792	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767610	0.49574	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	4.92	4.92	0.64577	.	0.181458	0.45606	D	0.000352	T	0.19208	0.0461	L	0.53249	1.67	0.33606	D	0.602919	P;B;B	0.46395	0.877;0.437;0.277	B;B;B	0.41860	0.368;0.174;0.189	T	0.20273	-1.0280	10	0.72032	D	0.01	-29.5167	19.0104	0.92871	0.0:1.0:0.0:0.0	.	454;598;574	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	Q	598;454;574;454	ENSP00000296318:E598Q;ENSP00000322250:E454Q;ENSP00000399209:E574Q;ENSP00000417516:E454Q	ENSP00000296318:E598Q	E	-	1	0	IL17RD	57106979	1.000000	0.71417	0.377000	0.26055	0.038000	0.13279	6.375000	0.73137	2.664000	0.90586	0.655000	0.94253	GAG	IL17RD	-	NULL	ENSG00000144730		0.572	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	17	0.00	0	C	NM_017563		57131939	57131939	-1	no_errors	ENST00000296318	ensembl	human	known	69_37n	missense	12	67.57	25	SNP	0.676	G
IL17RD	54756	genome.wustl.edu	37	3	57135219	57135219	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:57135219G>C	ENST00000296318.7	-	11	1240	c.1152C>G	c.(1150-1152)ttC>ttG	p.F384L	IL17RD_ENST00000320057.5_Missense_Mutation_p.F240L|IL17RD_ENST00000463523.1_Missense_Mutation_p.F240L|IL17RD_ENST00000427856.2_Missense_Mutation_p.F360L	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	384	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CACAGCCACAGAAGTCCTGGA	0.562																																						dbGAP											0													60.0	49.0	53.0					3																	57135219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1152C>G	3.37:g.57135219G>C	ENSP00000296318:p.Phe384Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	pfam_SEFIR,superfamily_TIR_dom	p.F384L	ENST00000296318.7	37	c.1152	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885448	0.51908	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.52	4.65	0.58169	SEFIR (1);	0.111522	0.64402	D	0.000003	T	0.42653	0.1212	L	0.50333	1.59	0.58432	D	0.999997	D;D;P	0.61080	0.967;0.989;0.893	P;P;P	0.59643	0.782;0.861;0.543	T	0.16482	-1.0401	10	0.27785	T	0.31	-16.5434	12.5215	0.56062	0.1396:0.0:0.8604:0.0	.	240;384;360	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	L	384;240;360;240	ENSP00000296318:F384L;ENSP00000322250:F240L;ENSP00000399209:F360L;ENSP00000417516:F240L	ENSP00000296318:F384L	F	-	3	2	IL17RD	57110259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.249000	0.43169	1.468000	0.48064	0.563000	0.77884	TTC	IL17RD	-	pfam_SEFIR,superfamily_TIR_dom	ENSG00000144730		0.562	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	30	0.00	0	G	NM_017563		57135219	57135219	-1	no_errors	ENST00000296318	ensembl	human	known	69_37n	missense	15	53.12	17	SNP	1.000	C
IMPA2	3613	genome.wustl.edu	37	18	12030413	12030413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr18:12030413C>T	ENST00000269159.3	+	8	1065	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	IMPA2_ENST00000588927.1_Nonsense_Mutation_p.Q86*|IMPA2_ENST00000589238.1_Nonsense_Mutation_p.Q86*|RP11-703I16.1_ENST00000587619.1_RNA	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	275					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GCTCATAGCTCAGGCCTTACA	0.617																																						dbGAP											0													92.0	74.0	80.0					18																	12030413		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.823C>T	18.37:g.12030413C>T	ENSP00000269159:p.Gln275*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ29|Q9UJT3	Nonsense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	p.Q275*	ENST00000269159.3	37	c.823	CCDS11855.1	18	.	.	.	.	.	.	.	.	.	.	C	37	6.543020	0.97650	.	.	ENSG00000141401	ENST00000269159	.	.	.	5.27	5.27	0.74061	.	0.136255	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.741	18.8937	0.92414	0.0:1.0:0.0:0.0	.	.	.	.	X	275	.	ENSP00000269159:Q275X	Q	+	1	0	IMPA2	12020413	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	3.314000	0.51943	2.471000	0.83476	0.561000	0.74099	CAG	IMPA2	-	pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	ENSG00000141401		0.617	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA2	HGNC	protein_coding	OTTHUMT00000254601.1	42	0.00	0	C			12030413	12030413	+1	no_errors	ENST00000269159	ensembl	human	known	69_37n	nonsense	43	30.65	19	SNP	1.000	T
IMPG2	50939	genome.wustl.edu	37	3	100948257	100948257	+	Missense_Mutation	SNP	T	T	A	rs139944942	byFrequency	TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:100948257T>A	ENST00000193391.7	-	17	3787	c.3600A>T	c.(3598-3600)agA>agT	p.R1200S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1200					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CATACATCTGTCTGATTTCTT	0.532																																						dbGAP											0													158.0	138.0	145.0					3																	100948257		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3600A>T	3.37:g.100948257T>A	ENSP00000193391:p.Arg1200Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.R1200S	ENST00000193391.7	37	c.3600	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245921	0.80024	.	.	ENSG00000081148	ENST00000193391	T	0.33216	1.42	5.72	-1.68	0.08212	.	0.000000	0.85682	D	0.000000	T	0.25494	0.0620	M	0.70275	2.135	0.46279	D	0.998964	B;B	0.32918	0.39;0.39	B;B	0.27380	0.079;0.079	T	0.10847	-1.0612	10	0.87932	D	0	-5.28	7.3865	0.26884	0.0:0.5164:0.1385:0.3451	.	1200;1200	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	S	1200	ENSP00000193391:R1200S	ENSP00000193391:R1200S	R	-	3	2	IMPG2	102430947	0.982000	0.34865	0.999000	0.59377	0.976000	0.68499	0.152000	0.16302	0.104000	0.17725	-0.261000	0.10672	AGA	IMPG2	-	NULL	ENSG00000081148		0.532	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	55	0.00	0	T			100948257	100948257	-1	no_errors	ENST00000193391	ensembl	human	known	69_37n	missense	40	42.86	30	SNP	0.996	A
ING2	3622	genome.wustl.edu	37	4	184431864	184431864	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:184431864C>T	ENST00000302327.3	+	2	804	c.602C>T	c.(601-603)tCa>tTa	p.S201L	ING2_ENST00000434682.2_Missense_Mutation_p.S161L	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	201					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGGGAAGCTTCACCTGTTGAG	0.423																																						dbGAP											0													101.0	95.0	97.0					4																	184431864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.602C>T	4.37:g.184431864C>T	ENSP00000307183:p.Ser201Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZDS1|O95698	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S201L	ENST00000302327.3	37	c.602	CCDS3833.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002784	0.74932	.	.	ENSG00000168556	ENST00000302327;ENST00000434682	D;D	0.85556	-2.0;-2.0	5.55	5.55	0.83447	Zinc finger, FYVE/PHD-type (1);	0.063724	0.64402	D	0.000003	D	0.91005	0.7171	M	0.62723	1.935	0.80722	D	1	D;D	0.67145	0.981;0.996	D;P	0.69824	0.966;0.906	D	0.88169	0.2863	10	0.30078	T	0.28	-13.1433	19.6941	0.96016	0.0:1.0:0.0:0.0	.	161;201	B6ZDS1;Q9H160	.;ING2_HUMAN	L	201;161	ENSP00000307183:S201L;ENSP00000412586:S161L	ENSP00000307183:S201L	S	+	2	0	ING2	184668858	1.000000	0.71417	0.684000	0.30055	0.998000	0.95712	7.289000	0.78701	2.885000	0.99019	0.655000	0.94253	TCA	ING2	-	superfamily_Znf_FYVE_PHD	ENSG00000168556		0.423	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING2	HGNC	protein_coding	OTTHUMT00000318652.1	47	0.00	0	C	NM_001564		184431864	184431864	+1	no_errors	ENST00000302327	ensembl	human	known	69_37n	missense	38	26.92	14	SNP	0.999	T
INPPL1	3636	genome.wustl.edu	37	11	71940780	71940780	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:71940780C>G	ENST00000298229.2	+	7	1031	c.827C>G	c.(826-828)tCa>tGa	p.S276*	INPPL1_ENST00000541756.1_Nonsense_Mutation_p.S34*|INPPL1_ENST00000538751.1_Nonsense_Mutation_p.S34*	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	276					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						GACTTCCTGTCAGGCATCCAG	0.547																																						dbGAP											0													91.0	81.0	85.0					11																	71940780		2200	4293	6493	-	-	-	SO:0001587	stop_gained	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.827C>G	11.37:g.71940780C>G	ENSP00000298229:p.Ser276*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX5|Q13577|Q13578	Nonsense_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.S276*	ENST00000298229.2	37	c.827	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	c	42	9.439973	0.99171	.	.	ENSG00000165458	ENST00000545256;ENST00000298229;ENST00000541756;ENST00000538751	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.5002	0.75691	0.0:1.0:0.0:0.0	.	.	.	.	X	34;276;34;34	.	ENSP00000298229:S276X	S	+	2	0	INPPL1	71618428	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.382000	0.73167	2.426000	0.82243	0.609000	0.83330	TCA	INPPL1	-	NULL	ENSG00000165458		0.547	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	32	0.00	0	C	NM_001567		71940780	71940780	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	nonsense	16	40.74	11	SNP	1.000	G
INTS8	55656	genome.wustl.edu	37	8	95886801	95886803	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:95886801_95886803delTGT	ENST00000523731.1	+	23	2792_2794	c.2659_2661delTGT	c.(2659-2661)tgtdel	p.C888del	INTS8_ENST00000447247.1_Intron	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	888					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AATGATAAAATGTTGTTCTTTGC	0.276																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2659_2661delTGT	8.37:g.95886804_95886806delTGT	ENSP00000430338:p.Cys888del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	In_Frame_Del	DEL	NULL	p.C888in_frame_del	ENST00000523731.1	37	c.2659_2661	CCDS34925.1	8																																																																																			INTS8	-	NULL	ENSG00000164941		0.276	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	81	0.00	0	TGT	NM_017864		95886801	95886803	+1	no_errors	ENST00000523731	ensembl	human	known	69_37n	in_frame_del	102	15.57	19	DEL	1.000:1.000:0.998	-
IP6K1	9807	genome.wustl.edu	37	3	49770247	49770247	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:49770247T>C	ENST00000321599.4	-	4	894	c.593A>G	c.(592-594)gAg>gGg	p.E198G	IP6K1_ENST00000395238.1_Missense_Mutation_p.E33G|IP6K1_ENST00000468463.1_Missense_Mutation_p.E198G|IP6K1_ENST00000460540.1_Missense_Mutation_p.E33G	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	198					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GTCCTTGGACTCGGAGCGCAT	0.567																																						dbGAP											0													84.0	74.0	77.0					3																	49770247		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.593A>G	3.37:g.49770247T>C	ENSP00000323780:p.Glu198Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	pfam_IPK	p.E198G	ENST00000321599.4	37	c.593	CCDS33760.1	3	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325305	0.81580	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000468463;ENST00000460540	T;T;T;T	0.42900	0.96;1.86;0.96;1.86	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	M	0.81341	2.54	0.80722	D	1	P;P	0.39520	0.629;0.676	B;P	0.44696	0.136;0.458	T	0.52961	-0.8505	10	0.25751	T	0.34	-12.0684	15.7498	0.77976	0.0:0.0:0.0:1.0	.	198;198	C9JNA8;Q92551	.;IP6K1_HUMAN	G	198;33;198;33	ENSP00000323780:E198G;ENSP00000378659:E33G;ENSP00000420467:E198G;ENSP00000420762:E33G	ENSP00000323780:E198G	E	-	2	0	IP6K1	49745251	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	8.005000	0.88553	2.131000	0.65755	0.383000	0.25322	GAG	IP6K1	-	NULL	ENSG00000176095		0.567	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K1	HGNC	protein_coding	OTTHUMT00000350380.1	17	0.00	0	T	NM_153273		49770247	49770247	-1	no_errors	ENST00000321599	ensembl	human	known	69_37n	missense	31	34.04	16	SNP	1.000	C
ITGAL	3683	genome.wustl.edu	37	16	30485581	30485581	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:30485581G>A	ENST00000356798.6	+	2	306	c.126G>A	c.(124-126)ggG>ggA	p.G42G	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Silent_p.G42G|ITGAL_ENST00000454514.2_Silent_p.G42G|ITGAL_ENST00000358164.5_Silent_p.G42G|Y_RNA_ENST00000410769.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	42					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CGCGCGCCGGGAGGCACTTTG	0.711																																					NSCLC(110;1462 1641 3311 33990 49495)	dbGAP											0													21.0	23.0	22.0					16																	30485581		2191	4286	6477	-	-	-	SO:0001819	synonymous_variant	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.126G>A	16.37:g.30485581G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G42	ENST00000356798.6	37	c.126	CCDS32433.1	16																																																																																			ITGAL	-	smart_Int_alpha_beta-p	ENSG00000005844		0.711	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	22	0.00	0	G			30485581	30485581	+1	no_errors	ENST00000356798	ensembl	human	known	69_37n	silent	12	58.62	17	SNP	1.000	A
ITGB3BP	23421	genome.wustl.edu	37	1	63944439	63944439	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:63944439C>A	ENST00000271002.10	-	4	331	c.250G>T	c.(250-252)Gat>Tat	p.D84Y	ITGB3BP_ENST00000371092.3_Missense_Mutation_p.D123Y|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.D84Y	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	84					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						ACTTACTCATCATTGTCTTTT	0.264																																						dbGAP											0													114.0	118.0	117.0					1																	63944439		2200	4293	6493	-	-	-	SO:0001583	missense	0			U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.250G>T	1.37:g.63944439C>A	ENSP00000271002:p.Asp84Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Missense_Mutation	SNP	pfam_NRIF3_coact_rcpt	p.D123Y	ENST00000271002.10	37	c.367	CCDS30736.1	1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795954	0.50208	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	T;T;T	0.57752	0.38;0.38;0.38	4.22	3.31	0.37934	.	0.000000	0.53938	D	0.000041	T	0.51432	0.1674	L	0.48642	1.525	0.40119	D	0.976572	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.987;0.986	T	0.56890	-0.7904	10	0.72032	D	0.01	.	8.263	0.31797	0.0:0.8935:0.0:0.1065	.	84;123;84	Q13352-2;Q13352-5;Q13352	.;.;CENPR_HUMAN	Y	84;123;84	ENSP00000271002:D84Y;ENSP00000360133:D123Y;ENSP00000283568:D84Y	ENSP00000271002:D84Y	D	-	1	0	ITGB3BP	63717027	0.996000	0.38824	0.993000	0.49108	0.828000	0.46876	0.487000	0.22356	1.368000	0.46115	0.655000	0.94253	GAT	ITGB3BP	-	pfam_NRIF3_coact_rcpt	ENSG00000142856		0.264	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB3BP	HGNC	protein_coding	OTTHUMT00000037242.2	139	0.00	0	C	NM_014288		63944439	63944439	-1	no_errors	ENST00000371092	ensembl	human	known	69_37n	missense	195	18.33	44	SNP	0.996	A
ITPA	3704	genome.wustl.edu	37	20	3202556	3202556	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:3202556G>A	ENST00000380113.3	+	7	673	c.481G>A	c.(481-483)Gag>Aag	p.E161K	ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.2_Missense_Mutation_p.E144K|ITPA_ENST00000399838.3_Missense_Mutation_p.E120K	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						TGATGGATATGAGCAGACGTA	0.617																																						dbGAP											0													73.0	69.0	70.0					20																	3202556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.481G>A	20.37:g.3202556G>A	ENSP00000369456:p.Glu161Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ham1p-like,tigrfam_Ham1p-like	p.E161K	ENST00000380113.3	37	c.481	CCDS13051.1	20	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032390	0.35893	.	.	ENSG00000125877	ENST00000380113;ENST00000455664;ENST00000399838	.	.	.	5.32	3.38	0.38709	.	0.222458	0.46442	N	0.000290	T	0.42539	0.1207	L	0.35414	1.06	0.38240	D	0.941293	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31558	-0.9939	9	0.35671	T	0.21	.	8.2635	0.31799	0.1825:0.0:0.8175:0.0	.	144;161	B2BCH7;Q9BY32	.;ITPA_HUMAN	K	161;144;120	.	ENSP00000369456:E161K	E	+	1	0	ITPA	3150556	0.978000	0.34361	0.702000	0.30337	0.955000	0.61496	1.711000	0.37930	0.742000	0.32697	-0.258000	0.10820	GAG	ITPA	-	pfam_Ham1p-like,tigrfam_Ham1p-like	ENSG00000125877		0.617	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPA	HGNC	protein_coding	OTTHUMT00000077719.2	42	0.00	0	G			3202556	3202556	+1	no_errors	ENST00000380113	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.964	A
ITPR3	3710	genome.wustl.edu	37	6	33647831	33647831	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:33647831A>T	ENST00000374316.5	+	32	5205	c.4145A>T	c.(4144-4146)tAc>tTc	p.Y1382F	ITPR3_ENST00000605930.1_Missense_Mutation_p.Y1382F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1382					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)	AAAAACGTCTACACTGAGATC	0.632																																						dbGAP											0													81.0	59.0	67.0					6																	33647831		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.4145A>T	6.37:g.33647831A>T	ENSP00000363435:p.Tyr1382Phe	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.Y1382F	ENST00000374316.5	37	c.4145	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543047	0.86022	.	.	ENSG00000096433	ENST00000374316	D	0.92149	-2.98	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.93605	0.7958	M	0.66297	2.02	0.58432	D	0.999999	D	0.71674	0.998	D	0.68765	0.96	D	0.93254	0.6637	10	0.42905	T	0.14	-30.2902	14.1023	0.65065	1.0:0.0:0.0:0.0	.	1382	Q14573	ITPR3_HUMAN	F	1382	ENSP00000363435:Y1382F	ENSP00000363435:Y1382F	Y	+	2	0	ITPR3	33755809	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.287000	0.95975	1.790000	0.52503	0.379000	0.24179	TAC	ITPR3	-	NULL	ENSG00000096433		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	15	0.00	0	A	NM_002224		33647831	33647831	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	T
ITSN2	50618	genome.wustl.edu	37	2	24535095	24535095	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:24535095A>T	ENST00000355123.4	-	5	781	c.338T>A	c.(337-339)aTt>aAt	p.I113N	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Missense_Mutation_p.I113N|ITSN2_ENST00000406921.3_Missense_Mutation_p.I113N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	113					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGAGCAGAAATTAATGGAGA	0.358																																						dbGAP											0													93.0	90.0	91.0					2																	24535095		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.338T>A	2.37:g.24535095A>T	ENSP00000347244:p.Ile113Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.I113N	ENST00000355123.4	37	c.338	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	A	13.92	2.382080	0.42207	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011;ENST00000443927	T;T;T;T;T;T	0.60040	0.22;0.23;0.22;0.66;0.72;1.47	5.07	3.94	0.45596	.	0.181637	0.25450	U	0.030596	T	0.47451	0.1446	N	0.08118	0	0.31370	N	0.680274	D;D;D;B	0.59357	0.985;0.985;0.985;0.143	P;P;P;B	0.58391	0.838;0.838;0.838;0.105	T	0.48725	-0.9010	10	0.31617	T	0.26	.	8.4574	0.32908	0.8485:0.0:0.1515:0.0	.	113;113;113;113	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	N	113;113;113;112;113;113;99	ENSP00000354561:I113N;ENSP00000347244:I113N;ENSP00000370250:I113N;ENSP00000384499:I113N;ENSP00000391224:I113N;ENSP00000391715:I99N	ENSP00000347244:I113N	I	-	2	0	ITSN2	24388599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.779000	0.55379	2.266000	0.75297	0.533000	0.62120	ATT	ITSN2	-	NULL	ENSG00000198399		0.358	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	43	0.00	0	A	NM_006277		24535095	24535095	-1	no_errors	ENST00000355123	ensembl	human	known	69_37n	missense	109	14.73	19	SNP	0.989	T
JAK2	3717	genome.wustl.edu	37	9	5044465	5044465	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:5044465G>C	ENST00000381652.3	+	5	907	c.413G>C	c.(412-414)cGa>cCa	p.R138P	JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.R138P	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	138	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|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 Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.R138Q(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GGAATATCTCGAGGTGCTGAA	0.368		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													dbGAP		Dom	yes		9	9p24	3717	Janus kinase 2		L	1	Substitution - Missense(1)	skin(1)											149.0	134.0	139.0					9																	5044465		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.413G>C	9.37:g.5044465G>C	ENSP00000371067:p.Arg138Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14636|O75297	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R138P	ENST00000381652.3	37	c.413	CCDS6457.1	9	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459269	0.84317	.	.	ENSG00000096968	ENST00000539801;ENST00000381652	T;T	0.41758	0.99;0.99	5.35	5.35	0.76521	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.066073	0.64402	D	0.000006	T	0.45155	0.1328	L	0.46157	1.445	0.80722	D	1	D	0.56746	0.977	P	0.49561	0.615	T	0.43909	-0.9362	10	0.72032	D	0.01	-9.3917	12.7432	0.57266	0.0757:0.0:0.9243:0.0	.	138	O60674	JAK2_HUMAN	P	138	ENSP00000440387:R138P;ENSP00000371067:R138P	ENSP00000371067:R138P	R	+	2	0	JAK2	5034465	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.050000	0.76620	2.646000	0.89796	0.655000	0.94253	CGA	JAK2	-	superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain	ENSG00000096968		0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	73	0.00	0	G			5044465	5044465	+1	no_errors	ENST00000381652	ensembl	human	known	69_37n	missense	40	48.72	38	SNP	1.000	C
JUN	3725	genome.wustl.edu	37	1	59247812	59247813	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:59247812_59247813delTC	ENST00000371222.2	-	1	1972_1973	c.930_931delGA	c.(928-933)cagaaafs	p.K311fs		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	311	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|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 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 transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|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)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	TTCATGACTTTCTGTTTAAGCT	0.53			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		1	1p32-p31	3725	jun oncogene		M	0																																										-	-	-	SO:0001589	frameshift_variant	0			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.930_931delGA	1.37:g.59247812_59247813delTC	ENSP00000360266:p.Lys311fs	Somatic	1037	WXS	Illumina GAIIx	Phase_IV	Q6FHM7|Q96G93	Frame_Shift_Del	DEL	pfam_JNK,pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.K311fs	ENST00000371222.2	37	c.931_930	CCDS610.1	1																																																																																			JUN	-	pfam_bZIP_1,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	ENSG00000177606		0.530	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUN	HGNC	protein_coding	OTTHUMT00000023042.1	29	0.00	0	TC	NM_002228		59247812	59247813	-1	no_errors	ENST00000371222	ensembl	human	known	69_37n	frame_shift_del	41	37.88	25	DEL	1.000:1.000	-
KALRN	8997	genome.wustl.edu	37	3	123946843	123946843	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:123946843T>A	ENST00000240874.3	+	2	231	c.74T>A	c.(73-75)tTt>tAt	p.F25Y	KALRN_ENST00000460856.1_Missense_Mutation_p.F25Y|KALRN_ENST00000360013.3_Missense_Mutation_p.F25Y	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	25					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						ACAGGGTCTTTTCGGAATGAT	0.488																																						dbGAP											0													236.0	224.0	228.0					3																	123946843		2203	4300	6503	-	-	-	SO:0001583	missense	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.74T>A	3.37:g.123946843T>A	ENSP00000240874:p.Phe25Tyr	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.F25Y	ENST00000240874.3	37	c.74	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.13|15.13	2.740611|2.740611	0.49045|0.49045	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000448253;ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	T;T|T;T;T	0.60299|0.59906	2.51;0.2|0.81;0.73;0.23	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.079594|0.079594	0.51477|0.51477	D|D	0.000094|0.000094	T|T	0.37376|0.37376	0.1001|0.1001	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.33073	.|0.08;0.396;0.131	.|B;B;B	.|0.34346	.|0.087;0.099;0.18	T|T	0.33111|0.33111	-0.9881|-0.9881	8|10	0.72032|0.02654	D|T	0.01|1	.|.	14.9157|14.9157	0.70795|0.70795	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|25;25;25	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	I|Y	53;3|25	ENSP00000395236:F53I;ENSP00000346122:F3I|ENSP00000418611:F25Y;ENSP00000240874:F25Y;ENSP00000353109:F25Y	ENSP00000346122:F3I|ENSP00000240874:F25Y	F|F	+|+	1|2	0|0	KALRN|KALRN	125429533|125429533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.343000|2.343000	0.44001|0.44001	2.113000|2.113000	0.64589|0.64589	0.482000|0.482000	0.46254|0.46254	TTC|TTT	KALRN	-	NULL	ENSG00000160145		0.488	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	130	0.00	0	T	NM_003947		123946843	123946843	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	missense	108	38.29	67	SNP	1.000	A
KALRN	8997	genome.wustl.edu	37	3	124132497	124132497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:124132497G>T	ENST00000240874.3	+	14	2678	c.2521G>T	c.(2521-2523)Gag>Tag	p.E841*	KALRN_ENST00000460856.1_Nonsense_Mutation_p.E841*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.E841*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	841					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						GTACATCACGGAGGTCCAGGC	0.542																																						dbGAP											0													144.0	97.0	113.0					3																	124132497		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.2521G>T	3.37:g.124132497G>T	ENSP00000240874:p.Glu841*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_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.E841*	ENST00000240874.3	37	c.2521	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.796563	0.99266	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.614	0.95622	0.0:0.0:1.0:0.0	.	.	.	.	X	841	.	ENSP00000240874:E841X	E	+	1	0	KALRN	125615187	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.873000	0.98535	0.561000	0.74099	GAG	KALRN	-	NULL	ENSG00000160145		0.542	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	35	0.00	0	G	NM_003947		124132497	124132497	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	nonsense	18	62.50	30	SNP	1.000	T
KANSL1	284058	genome.wustl.edu	37	17	44249016	44249016	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:44249016G>C	ENST00000262419.6	-	2	964	c.494C>G	c.(493-495)tCa>tGa	p.S165*	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S165*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S165*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S165*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S165*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	165					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGAATGTGTTGAACTTTTAGT	0.438																																						dbGAP											0													140.0	189.0	172.0					17																	44249016		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.494C>G	17.37:g.44249016G>C	ENSP00000262419:p.Ser165*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	NULL	p.S165*	ENST00000262419.6	37	c.494	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445913	0.84101	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	6.04	6.04	0.98038	.	0.300242	0.32120	N	0.006541	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.8105	17.3121	0.87212	0.0:0.0:1.0:0.0	.	.	.	.	X	165	.	ENSP00000262419:S165X	S	-	2	0	KIAA1267	41604793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.611000	0.54132	2.873000	0.98535	0.561000	0.74099	TCA	KANSL1	-	NULL	ENSG00000120071		0.438	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	26	0.00	0	G	NM_015443		44249016	44249016	-1	no_errors	ENST00000262419	ensembl	human	known	69_37n	nonsense	18	37.93	11	SNP	1.000	C
KANSL1	284058	genome.wustl.edu	37	17	44249261	44249261	+	Silent	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:44249261G>C	ENST00000262419.6	-	2	719	c.249C>G	c.(247-249)ctC>ctG	p.L83L	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000432791.1_Silent_p.L83L|KANSL1_ENST00000572904.1_Silent_p.L83L|KANSL1_ENST00000574590.1_Silent_p.L83L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.L83L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	83					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CATCAGAGCAGAGATAAGATG	0.453																																						dbGAP											0													120.0	146.0	137.0					17																	44249261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.249C>G	17.37:g.44249261G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	NULL	p.L83	ENST00000262419.6	37	c.249	CCDS11503.1	17																																																																																			KANSL1	-	NULL	ENSG00000120071		0.453	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	31	0.00	0	G	NM_015443		44249261	44249261	-1	no_errors	ENST00000262419	ensembl	human	known	69_37n	silent	36	38.98	23	SNP	0.997	C
KANSL3	55683	genome.wustl.edu	37	2	97274300	97274300	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:97274300C>T	ENST00000431828.1	-	14	1762	c.1686G>A	c.(1684-1686)ctG>ctA	p.L562L	KANSL3_ENST00000599854.1_Silent_p.L475L|KANSL3_ENST00000440133.1_Silent_p.L356L|KANSL3_ENST00000441706.2_Silent_p.L475L|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	562					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GTCTCTTCAGCAGCTGAGAAC	0.542																																						dbGAP											0													156.0	146.0	149.0					2																	97274300		2029	4208	6237	-	-	-	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1686G>A	2.37:g.97274300C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	NULL	p.L562	ENST00000431828.1	37	c.1686	CCDS46361.1	2																																																																																			KANSL3	-	NULL	ENSG00000114982		0.542	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL3	HGNC	protein_coding	OTTHUMT00000339040.2	87	0.00	0	C	NM_017991		97274300	97274300	-1	no_errors	ENST00000431828	ensembl	human	known	69_37n	silent	123	40.67	85	SNP	1.000	T
KCND2	3751	genome.wustl.edu	37	7	119914821	119914821	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:119914821G>A	ENST00000331113.4	+	1	1100	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	45					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.L45L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCATTGTGCTGAATGTGAGTG	0.602																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											130.0	140.0	136.0					7																	119914821		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.135G>A	7.37:g.119914821G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.L45	ENST00000331113.4	37	c.135	CCDS5776.1	7																																																																																			KCND2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000184408		0.602	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	32	0.00	0	G	NM_012281		119914821	119914821	+1	no_errors	ENST00000331113	ensembl	human	known	69_37n	silent	23	28.12	9	SNP	1.000	A
KCNJ11	3767	genome.wustl.edu	37	11	17409584	17409584	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:17409584C>G	ENST00000339994.4	-	1	622	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	KCNJ11_ENST00000528731.1_Intron|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	19					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GCAGGGTCCTCTGCCAGGCGT	0.662																																						dbGAP											0													59.0	64.0	62.0					11																	17409584		2200	4293	6493	-	-	-	SO:0001583	missense	0			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.55G>C	11.37:g.17409584C>G	ENSP00000345708:p.Glu19Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	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_Kir6.2	p.E19Q	ENST00000339994.4	37	c.55	CCDS31436.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.47|15.47	2.841681|2.841681	0.51057|0.51057	.|.	.|.	ENSG00000187486|ENSG00000187486	ENST00000339994|ENST00000528992	D|.	0.87334|.	-2.24|.	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	0.069893|.	0.56097|.	D|.	0.000035|.	T|T	0.69450|0.69450	0.3112|0.3112	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	P|.	0.45348|.	0.856|.	P|.	0.46825|.	0.528|.	T|T	0.69030|0.69030	-0.5253|-0.5253	10|5	0.36615|.	T|.	0.2|.	.|.	16.7629|16.7629	0.85517|0.85517	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	19|.	B2RC52|.	.|.	Q|H	19|24	ENSP00000345708:E19Q|.	ENSP00000345708:E19Q|.	E|Q	-|-	1|3	0|2	KCNJ11|KCNJ11	17366160|17366160	0.999000|0.999000	0.42202|0.42202	0.969000|0.969000	0.41365|0.41365	0.460000|0.460000	0.32559|0.32559	4.889000|4.889000	0.63171|0.63171	1.939000|1.939000	0.56221|0.56221	0.462000|0.462000	0.41574|0.41574	GAG|CAG	KCNJ11	-	pirsf_K_chnl_inward-rec_Kir	ENSG00000187486		0.662	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ11	HGNC	protein_coding	OTTHUMT00000387037.1	19	0.00	0	C	NM_000525		17409584	17409584	-1	no_errors	ENST00000339994	ensembl	human	known	69_37n	missense	8	63.64	14	SNP	1.000	G
KCNU1	157855	genome.wustl.edu	37	8	36780092	36780092	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:36780092C>T	ENST00000399881.3	+	24	2718	c.2681C>T	c.(2680-2682)gCc>gTc	p.A894V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	894					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTCAGCACTGCCTTTTCTACG	0.502																																						dbGAP											0													140.0	134.0	136.0					8																	36780092		1893	4122	6015	-	-	-	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2681C>T	8.37:g.36780092C>T	ENSP00000382770:p.Ala894Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.A894V	ENST00000399881.3	37	c.2681	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056036	0.55325	.	.	ENSG00000215262	ENST00000399881	T	0.42900	0.96	5.32	5.32	0.75619	.	0.471711	0.17343	U	0.177668	T	0.37919	0.1021	L	0.44542	1.39	0.80722	D	1	B	0.33694	0.421	B	0.29785	0.107	T	0.35992	-0.9766	10	0.87932	D	0	-3.7933	15.7182	0.77685	0.0:1.0:0.0:0.0	.	894	A8MYU2	KCNU1_HUMAN	V	894	ENSP00000382770:A894V	ENSP00000382770:A894V	A	+	2	0	KCNU1	36899250	0.538000	0.26394	0.986000	0.45419	0.159000	0.22180	1.806000	0.38892	2.485000	0.83878	0.655000	0.94253	GCC	KCNU1	-	NULL	ENSG00000215262		0.502	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	75	0.00	0	C	NM_001031836		36780092	36780092	+1	no_errors	ENST00000399881	ensembl	human	known	69_37n	missense	124	12.68	18	SNP	0.993	T
KCNQ3	3786	genome.wustl.edu	37	8	133492505	133492505	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:133492505G>A	ENST00000388996.4	-	1	695	c.275C>T	c.(274-276)cCg>cTg	p.P92L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P92L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	92					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCGGCTCAGCGGGGTCTTGGC	0.687																																						dbGAP											0													36.0	41.0	40.0					8																	133492505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.275C>T	8.37:g.133492505G>A	ENSP00000373648:p.Pro92Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.P92L	ENST00000388996.4	37	c.275	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114034	0.37339	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.99023	-5.33;-5.34	4.43	4.43	0.53597	.	0.244479	0.28572	N	0.014866	D	0.98273	0.9428	L	0.49126	1.545	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.50860	0.652;0.652	D	0.99191	1.0870	10	0.87932	D	0	-9.9931	16.2364	0.82377	0.0:0.0:1.0:0.0	.	92;92	E7ET42;O43525	.;KCNQ3_HUMAN	L	92;92;81	ENSP00000373648:P92L;ENSP00000428790:P92L	ENSP00000373648:P92L	P	-	2	0	KCNQ3	133561687	1.000000	0.71417	0.979000	0.43373	0.026000	0.11368	6.266000	0.72540	2.297000	0.77311	0.557000	0.71058	CCG	KCNQ3	-	prints_K_chnl_volt-dep_KCNQ3	ENSG00000184156		0.687	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	38	0.00	0	G	NM_004519		133492505	133492505	-1	no_errors	ENST00000388996	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.999	A
KDM4A	9682	genome.wustl.edu	37	1	44156660	44156660	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:44156660G>C	ENST00000372396.3	+	14	2316	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	728					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TCCTTATCTTGAGGAGGATGG	0.537																																						dbGAP											0													279.0	263.0	268.0					1																	44156660		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2182G>C	1.37:g.44156660G>C	ENSP00000361473:p.Glu728Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E728Q	ENST00000372396.3	37	c.2182	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262298	0.59431	.	.	ENSG00000066135	ENST00000372396	T	0.16743	2.32	5.15	5.15	0.70609	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.52759	1.655	0.48395	D	0.999646	D	0.89917	1.0	D	0.63488	0.915	T	0.01524	-1.1333	10	0.30854	T	0.27	-23.8582	18.664	0.91481	0.0:0.0:1.0:0.0	.	728	O75164	KDM4A_HUMAN	Q	728	ENSP00000361473:E728Q	ENSP00000361473:E728Q	E	+	1	0	KDM4A	43929247	1.000000	0.71417	0.948000	0.38648	0.389000	0.30415	6.727000	0.74764	2.409000	0.81822	0.563000	0.77884	GAG	KDM4A	-	smart_Znf_PHD	ENSG00000066135		0.537	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	34	0.00	0	G	NM_014663		44156660	44156660	+1	no_errors	ENST00000372396	ensembl	human	known	69_37n	missense	57	18.57	13	SNP	0.999	C
KDM5B	10765	genome.wustl.edu	37	1	202718234	202718234	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:202718234G>A	ENST00000367265.3	-	14	3019	c.1855C>T	c.(1855-1857)Cgc>Tgc	p.R619C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R655C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	619	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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 corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGAAGCAAGCGATAATGCTCC	0.418																																						dbGAP											0													105.0	88.0	94.0					1																	202718234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1855C>T	1.37:g.202718234G>A	ENSP00000356234:p.Arg619Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95811|Q15752|Q9Y3Q5	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.R619C	ENST00000367265.3	37	c.1855	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468095	0.84533	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72394	-0.65;-0.65;-0.65	5.72	4.77	0.60923	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.84741	0.5539	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.985	D	0.86775	0.1975	10	0.87932	D	0	-18.6392	13.7962	0.63173	0.0:0.0:0.7243:0.2757	.	655;619	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	619;461;655;461	ENSP00000356234:R619C;ENSP00000356233:R655C;ENSP00000235790:R461C	ENSP00000235790:R461C	R	-	1	0	KDM5B	200984857	1.000000	0.71417	0.745000	0.31077	0.900000	0.52787	5.454000	0.66651	2.695000	0.91970	0.557000	0.71058	CGC	KDM5B	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000117139		0.418	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	34	0.00	0	G	NM_006618		202718234	202718234	-1	no_errors	ENST00000367265	ensembl	human	known	69_37n	missense	67	31.63	31	SNP	0.997	A
KIAA0195	9772	genome.wustl.edu	37	17	73489641	73489641	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:73489641G>C	ENST00000314256.7	+	17	2550	c.2156G>C	c.(2155-2157)gGa>gCa	p.G719A	KIAA0195_ENST00000375248.5_Missense_Mutation_p.G729A|KIAA0195_ENST00000579208.1_Missense_Mutation_p.G370A	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	719						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGGGACGGAGCTGACATC	0.612																																						dbGAP											0													113.0	104.0	107.0					17																	73489641		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2156G>C	17.37:g.73489641G>C	ENSP00000313885:p.Gly719Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.G719A	ENST00000314256.7	37	c.2156	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705779	0.48412	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.83335	-1.71;-1.71	5.55	4.58	0.56647	.	0.050768	0.85682	D	0.000000	D	0.89825	0.6827	M	0.81802	2.56	0.80722	D	1	D;D;D	0.71674	0.974;0.998;0.996	P;P;P	0.61275	0.48;0.886;0.772	D	0.91070	0.4892	10	0.72032	D	0.01	-12.3913	14.1227	0.65201	0.0721:0.0:0.9279:0.0	.	729;729;719	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	A	719;729	ENSP00000313885:G719A;ENSP00000364397:G729A	ENSP00000313885:G719A	G	+	2	0	KIAA0195	71001236	1.000000	0.71417	0.629000	0.29254	0.966000	0.64601	9.759000	0.98931	1.341000	0.45600	0.561000	0.74099	GGA	KIAA0195	-	NULL	ENSG00000177728		0.612	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	29	0.00	0	G	NM_014738		73489641	73489641	+1	no_errors	ENST00000314256	ensembl	human	known	69_37n	missense	29	42.00	21	SNP	1.000	C
AREL1	9870	genome.wustl.edu	37	14	75130698	75130698	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:75130698G>A	ENST00000356357.4	-	19	2788	c.2273C>T	c.(2272-2274)tCc>tTc	p.S758F	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	758	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TAGCTGAGAGGAGCCTGTTGT	0.567																																						dbGAP											0													80.0	85.0	83.0					14																	75130698		2095	4224	6319	-	-	-	SO:0001583	missense	0			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.2273C>T	14.37:g.75130698G>A	ENSP00000348714:p.Ser758Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.S758F	ENST00000356357.4	37	c.2273	CCDS41971.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.105391	0.94245	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.62105	0.05;0.05	5.73	5.73	0.89815	HECT (4);	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.90650	3.135	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.86340	0.1704	10	0.72032	D	0.01	.	19.9084	0.97016	0.0:0.0:1.0:0.0	.	758	O15033	K0317_HUMAN	F	758;597;597	ENSP00000348714:S758F;ENSP00000452101:S597F	ENSP00000348714:S758F	S	-	2	0	KIAA0317	74200451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.711000	0.92665	0.650000	0.86243	TCC	KIAA0317	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000119682		0.567	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	52	0.00	0	G	NM_014821		75130698	75130698	-1	no_errors	ENST00000356357	ensembl	human	known	69_37n	missense	26	49.02	25	SNP	1.000	A
KIAA0556	23247	genome.wustl.edu	37	16	27761291	27761291	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:27761291G>A	ENST00000261588.4	+	16	3029	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1004						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTCCAAGGGTGAACCGGTGCA	0.498																																						dbGAP											0													37.0	36.0	37.0					16																	27761291		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3010G>A	16.37:g.27761291G>A	ENSP00000261588:p.Glu1004Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.E1004K	ENST00000261588.4	37	c.3010	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	6.184	0.402165	0.11696	.	.	ENSG00000047578	ENST00000261588	T	0.13778	2.56	4.98	1.87	0.25490	.	0.234155	0.42821	D	0.000654	T	0.07683	0.0193	N	0.26042	0.785	0.36640	D	0.876778	B	0.09022	0.002	B	0.12156	0.007	T	0.27872	-1.0061	10	0.18276	T	0.48	-18.6313	5.8538	0.18708	0.2289:0.1416:0.6295:0.0	.	1004	O60303	K0556_HUMAN	K	1004	ENSP00000261588:E1004K	ENSP00000261588:E1004K	E	+	1	0	KIAA0556	27668792	1.000000	0.71417	0.122000	0.21767	0.036000	0.12997	4.046000	0.57376	0.591000	0.29711	-0.137000	0.14449	GAA	KIAA0556	-	NULL	ENSG00000047578		0.498	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	13	0.00	0	G	NM_015202		27761291	27761291	+1	no_errors	ENST00000261588	ensembl	human	known	69_37n	missense	8	68.00	17	SNP	0.819	A
KIAA0930	23313	genome.wustl.edu	37	22	45599780	45599780	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:45599780G>A	ENST00000336156.5	-	6	668	c.603C>T	c.(601-603)gtC>gtT	p.V201V	KIAA0930_ENST00000443310.3_Silent_p.V183V|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000251993.7_Silent_p.V206V|KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000391627.2_Silent_p.V167V	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	201										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CCTGAAAGATGACCCCCTGGA	0.612																																						dbGAP											0													261.0	179.0	207.0					22																	45599780		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.603C>T	22.37:g.45599780G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Silent	SNP	pfam_DUF2045	p.V206	ENST00000336156.5	37	c.618	CCDS33665.1	22																																																																																			KIAA0930	-	pfam_DUF2045	ENSG00000100364		0.612	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	44	0.00	0	G	NM_001009880		45599780	45599780	-1	no_errors	ENST00000251993	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	1.000	A
KIAA1033	23325	genome.wustl.edu	37	12	105538125	105538125	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:105538125C>G	ENST00000332180.5	+	21	2158	c.2071C>G	c.(2071-2073)Cat>Gat	p.H691D		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGTGCATACTCATTTAAAGCT	0.343																																						dbGAP											0													128.0	126.0	127.0					12																	105538125		1823	4073	5896	-	-	-	SO:0001583	missense	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2071C>G	12.37:g.105538125C>G	ENSP00000328062:p.His691Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.H691D	ENST00000332180.5	37	c.2071	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900185	0.72754	.	.	ENSG00000136051	ENST00000332180	T	0.45668	0.89	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	M	0.67953	2.075	0.80722	D	1	B;B	0.20261	0.043;0.043	B;B	0.22880	0.042;0.042	T	0.36432	-0.9748	10	0.48119	T	0.1	.	20.5934	0.99428	0.0:1.0:0.0:0.0	.	692;691	B7ZKT9;Q2M389	.;WASH7_HUMAN	D	691	ENSP00000328062:H691D	ENSP00000328062:H691D	H	+	1	0	KIAA1033	104062255	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.773000	0.85462	2.872000	0.98467	0.650000	0.86243	CAT	KIAA1033	-	NULL	ENSG00000136051		0.343	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	44	0.00	0	C	NM_015275		105538125	105538125	+1	no_errors	ENST00000332180	ensembl	human	known	69_37n	missense	68	17.07	14	SNP	1.000	G
CFAP97	57587	genome.wustl.edu	37	4	186112073	186112074	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:186112073_186112074delGA	ENST00000458385.2	-	2	396_397	c.277_278delTC	c.(277-279)tcafs	p.S93fs	KIAA1430_ENST00000296775.6_Frame_Shift_Del_p.S93fs|KIAA1430_ENST00000514798.1_Frame_Shift_Del_p.S93fs	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		93										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGCTGGCAATGAGAAAGAACTT	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000458385.2:c.277_278delTC	4.37:g.186112075_186112076delGA	ENSP00000409964:p.Ser93fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Frame_Shift_Del	DEL	NULL	p.S93fs	ENST00000458385.2	37	c.278_277	CCDS47168.1	4																																																																																			KIAA1430	-	NULL	ENSG00000164323		0.351	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	84	0.00	0	GA			186112073	186112074	-1	no_errors	ENST00000296775	ensembl	human	known	69_37n	frame_shift_del	99	16.67	20	DEL	0.001:0.000	-
KIAA1755	85449	genome.wustl.edu	37	20	36841549	36841549	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:36841549C>G	ENST00000279024.4	-	14	3769	c.3498G>C	c.(3496-3498)caG>caC	p.Q1166H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1166										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGACCTGGCTCTGCCTGGGGG	0.642																																						dbGAP											0													38.0	41.0	40.0					20																	36841549		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3498G>C	20.37:g.36841549C>G	ENSP00000279024:p.Gln1166His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.Q1166H	ENST00000279024.4	37	c.3498	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725703	0.30593	.	.	ENSG00000149633	ENST00000279024	T	0.06849	3.25	5.14	4.19	0.49359	.	0.524529	0.16362	N	0.217710	T	0.09949	0.0244	L	0.52573	1.65	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.14392	-1.0474	10	0.42905	T	0.14	.	11.1804	0.48625	0.0:0.793:0.207:0.0	.	1166	Q5JYT7	K1755_HUMAN	H	1166	ENSP00000279024:Q1166H	ENSP00000279024:Q1166H	Q	-	3	2	KIAA1755	36274963	0.028000	0.19301	0.080000	0.20451	0.085000	0.17905	1.028000	0.30128	1.367000	0.46095	0.561000	0.74099	CAG	KIAA1755	-	NULL	ENSG00000149633		0.642	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	10	0.00	0	C	NM_001029864		36841549	36841549	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.129	G
KIF1B	23095	genome.wustl.edu	37	1	10412788	10412788	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:10412788C>G	ENST00000377086.1	+	38	4251	c.4049C>G	c.(4048-4050)tCt>tGt	p.S1350C	KIF1B_ENST00000377081.1_Missense_Mutation_p.S1350C|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.S1304C			O60333	KIF1B_HUMAN	kinesin family member 1B	1350					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCACAACTCTAGCAGGTGG	0.483																																						dbGAP											0													110.0	107.0	108.0					1																	10412788		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4049C>G	1.37:g.10412788C>G	ENSP00000366290:p.Ser1350Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1304C	ENST00000377086.1	37	c.3911		1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240648	0.79912	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72835	-0.62;-0.69;-0.69	5.69	4.77	0.60923	.	0.111171	0.64402	N	0.000005	T	0.75845	0.3905	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.71674	0.974;0.983;0.998;0.988;0.991;0.969	P;P;D;D;P;P	0.65443	0.895;0.873;0.935;0.928;0.886;0.694	T	0.78912	-0.2017	10	0.62326	D	0.03	.	16.6774	0.85283	0.0:0.8703:0.1297:0.0	.	1336;1310;1350;1324;1350;1304	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	C	1350;1304;1350;1350	ENSP00000263934:S1304C;ENSP00000366290:S1350C;ENSP00000366284:S1350C	ENSP00000263934:S1304C	S	+	2	0	KIF1B	10335375	0.998000	0.40836	0.957000	0.39632	0.962000	0.63368	3.779000	0.55379	1.380000	0.46344	0.655000	0.94253	TCT	KIF1B	-	pfam_Kinesin-like	ENSG00000054523		0.483	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	76	0.00	0	C			10412788	10412788	+1	no_errors	ENST00000263934	ensembl	human	known	69_37n	missense	53	48.04	49	SNP	1.000	G
KIAA2013	90231	genome.wustl.edu	37	1	11982839	11982839	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:11982839C>T	ENST00000376572.3	-	2	1926	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	KIAA2013_ENST00000376576.3_Missense_Mutation_p.E581K	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	581						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCATGTGCTCATCATGGGCC	0.607																																						dbGAP											0													48.0	44.0	45.0					1																	11982839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1741G>A	1.37:g.11982839C>T	ENSP00000365756:p.Glu581Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	pfam_DUF2152	p.E581K	ENST00000376572.3	37	c.1741	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715035	0.89112	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.68	4.77	0.60923	.	0.056306	0.64402	D	0.000002	T	0.64875	0.2638	L	0.46157	1.445	0.54753	D	0.999983	P;P	0.50066	0.915;0.931	P;P	0.56648	0.702;0.803	T	0.67612	-0.5626	9	0.66056	D	0.02	-33.4717	13.4748	0.61301	0.0:0.9254:0.0:0.0746	.	581;581	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	K	581	.	ENSP00000365756:E581K	E	-	1	0	KIAA2013	11905426	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.487000	0.81328	1.410000	0.46936	0.555000	0.69702	GAG	KIAA2013	-	pfam_DUF2152	ENSG00000116685		0.607	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	48	0.00	0	C	NM_138346		11982839	11982839	-1	no_errors	ENST00000376576	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	1.000	T
KIF27	55582	genome.wustl.edu	37	9	86457233	86457233	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:86457233T>G	ENST00000297814.2	-	17	3783	c.3640A>C	c.(3640-3642)Aag>Cag	p.K1214Q	KIF27_ENST00000334204.2_Missense_Mutation_p.K1117Q|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K1148Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1214					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGGTTTTCTTATAGAAATAA	0.363																																						dbGAP											0													31.0	29.0	29.0					9																	86457233		2202	4297	6499	-	-	-	SO:0001583	missense	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3640A>C	9.37:g.86457233T>G	ENSP00000297814:p.Lys1214Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K1214Q	ENST00000297814.2	37	c.3640	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	T	19.44	3.828605	0.71258	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.78924	-1.11;-1.22;-1.15	4.24	4.24	0.50183	.	0.000000	0.56097	D	0.000022	D	0.85652	0.5746	M	0.68593	2.085	0.37479	D	0.915923	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.994	D	0.87620	0.2509	10	0.45353	T	0.12	.	13.5796	0.61893	0.0:0.0:0.0:1.0	.	1117;1148;1214	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Q	1214;1148;1117	ENSP00000297814:K1214Q;ENSP00000401688:K1148Q;ENSP00000333928:K1117Q	ENSP00000297814:K1214Q	K	-	1	0	KIF27	85647053	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.530000	0.67141	1.787000	0.52448	0.381000	0.24937	AAG	KIF27	-	NULL	ENSG00000165115		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	50	0.00	0	T	NM_017576		86457233	86457233	-1	no_errors	ENST00000297814	ensembl	human	known	69_37n	missense	66	25.00	22	SNP	1.000	G
KIF27	55582	genome.wustl.edu	37	9	86485437	86485437	+	Silent	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:86485437G>C	ENST00000297814.2	-	12	2897	c.2754C>G	c.(2752-2754)ctC>ctG	p.L918L	KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000413982.1_Silent_p.L852L	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	918					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GACAAACCTGGAGATGGTCTA	0.398																																						dbGAP											0													77.0	73.0	75.0					9																	86485437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2754C>G	9.37:g.86485437G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L918	ENST00000297814.2	37	c.2754	CCDS6665.1	9																																																																																			KIF27	-	NULL	ENSG00000165115		0.398	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	104	0.00	0	G	NM_017576		86485437	86485437	-1	no_errors	ENST00000297814	ensembl	human	known	69_37n	silent	143	22.16	41	SNP	0.995	C
KLHDC3	116138	genome.wustl.edu	37	6	42985434	42985434	+	Splice_Site	SNP	G	G	C	rs112701450		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:42985434G>C	ENST00000326974.4	+	3	526		c.e3+1		KLHDC3_ENST00000332245.8_Intron|KLHDC3_ENST00000244670.8_Splice_Site	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3						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)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTTGACGTCAGTGAGTATGGA	0.552																																						dbGAP											0													82.0	83.0	83.0					6																	42985434		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.331+1G>C	6.37:g.42985434G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2W9	Splice_Site	SNP	-	e2+1	ENST00000326974.4	37	c.331+1	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601612	0.66445	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2529	0.93932	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLHDC3	43093412	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.271000	0.95698	2.632000	0.89209	0.561000	0.74099	.	KLHDC3	-	-	ENSG00000124702		0.552	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1	44	0.00	0	G	NM_057161	Intron	42985434	42985434	+1	no_errors	ENST00000326974	ensembl	human	known	69_37n	splice_site	39	23.53	12	SNP	1.000	C
KLHL31	401265	genome.wustl.edu	37	6	53519444	53519444	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:53519444C>G	ENST00000407079.1	-	1	626	c.627G>C	c.(625-627)atG>atC	p.M209I	KLHL31_ENST00000370905.3_Missense_Mutation_p.M209I			Q9H511	KLH31_HUMAN	kelch-like family member 31	209	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ATGTAAGTTTCATAAACTGAT	0.333																																						dbGAP											0													78.0	79.0	79.0					6																	53519444		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.627G>C	6.37:g.53519444C>G	ENSP00000384644:p.Met209Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6N9J2|B2RP49	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.M209I	ENST00000407079.1	37	c.627	CCDS34478.1	6	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504025	0.26949	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68025	-0.3;-0.3	6.03	4.17	0.49024	BTB/Kelch-associated (2);	0.099958	0.64402	D	0.000002	T	0.28234	0.0697	N	0.12961	0.28	0.32774	N	0.503367	B	0.14805	0.011	B	0.15870	0.014	T	0.12192	-1.0557	10	0.49607	T	0.09	.	5.1976	0.15246	0.0:0.6092:0.195:0.1957	.	209	Q9H511	KLH31_HUMAN	I	209	ENSP00000359942:M209I;ENSP00000384644:M209I	ENSP00000359942:M209I	M	-	3	0	KLHL31	53627403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.563000	0.36364	2.868000	0.98415	0.555000	0.69702	ATG	KLHL31	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000124743		0.333	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	HGNC	protein_coding	OTTHUMT00000040965.1	52	0.00	0	C	NM_001003760		53519444	53519444	-1	no_errors	ENST00000370905	ensembl	human	known	69_37n	missense	51	31.08	23	SNP	1.000	G
KPNB1	3837	genome.wustl.edu	37	17	45734247	45734247	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:45734247G>A	ENST00000290158.4	+	4	711	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	KPNB1_ENST00000540627.1_5'UTR|KPNB1_ENST00000537679.1_5'Flank|KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000535458.2_5'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	102					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ATTGGGTACAGAAACTTACCG	0.438																																						dbGAP											0													116.0	106.0	109.0					17																	45734247		2203	4300	6503	-	-	-	SO:0001583	missense	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.304G>A	17.37:g.45734247G>A	ENSP00000290158:p.Glu102Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.E102K	ENST00000290158.4	37	c.304	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.007667	0.97195	.	.	ENSG00000108424	ENST00000290158	T	0.66460	-0.21	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	L	0.38175	1.15	0.42711	D	0.993644	D	0.89917	1.0	D	0.97110	1.0	T	0.70425	-0.4875	9	0.28530	T	0.3	-4.1996	20.5666	0.99351	0.0:0.0:1.0:0.0	.	102	Q14974	IMB1_HUMAN	K	102	ENSP00000290158:E102K	ENSP00000290158:E102K	E	+	1	0	KPNB1	43089246	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.841000	0.99482	2.854000	0.98071	0.655000	0.94253	GAA	KPNB1	-	superfamily_ARM-type_fold	ENSG00000108424		0.438	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2	68	0.00	0	G	NM_002265		45734247	45734247	+1	no_errors	ENST00000290158	ensembl	human	known	69_37n	missense	89	19.64	22	SNP	1.000	A
KRT86	3892	genome.wustl.edu	37	12	52646209	52646209	+	Intron	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:52646209G>T	ENST00000544024.1	+	1	129				KRT121P_ENST00000529785.1_RNA			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCATCACTGAGGGCCGCCT	0.622																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000544024.1:c.-5+2997G>T	12.37:g.52646209G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P78387	RNA	SNP	-	NULL	ENST00000544024.1	37	NULL	CCDS41785.1	12																																																																																			KRT121P	-	-	ENSG00000135477		0.622	KRT86-202	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT121P	HGNC	protein_coding		25	0.00	0	G	NM_002284		52646209	52646209	-1	no_errors	ENST00000529785	ensembl	human	known	69_37n	rna	16	48.39	15	SNP	0.009	T
KRR1	11103	genome.wustl.edu	37	12	75900637	75900637	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:75900637C>T	ENST00000229214.4	-	3	341	c.318G>A	c.(316-318)aaG>aaA	p.K106K	KRR1_ENST00000438169.2_Silent_p.K106K	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	106					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATCAAAAGTCTTCTTTGTAG	0.378																																						dbGAP											0													123.0	111.0	115.0					12																	75900637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.318G>A	12.37:g.75900637C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.K106	ENST00000229214.4	37	c.318	CCDS9012.1	12																																																																																			KRR1	-	NULL	ENSG00000111615		0.378	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRR1	HGNC	protein_coding	OTTHUMT00000405727.1	51	0.00	0	C	NM_007043		75900637	75900637	-1	no_errors	ENST00000229214	ensembl	human	known	69_37n	silent	51	26.09	18	SNP	1.000	T
KRTAP20-1	337975	genome.wustl.edu	37	21	31988928	31988928	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:31988928C>T	ENST00000334664.2	+	1	179	c.155C>T	c.(154-156)tCa>tTa	p.S52L	KRTAP6-1_ENST00000329122.2_5'Flank	NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	52			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			intermediate filament (GO:0005882)		p.S52L(1)		breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						AGATATTGGTCATATGGTTTC	0.448																																						dbGAP											1	Substitution - Missense(1)	breast(1)											239.0	213.0	221.0					21																	31988928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP001708	CCDS13603.1	21q22.1	2011-02-10			ENSG00000244624	ENSG00000244624		"""Keratin associated proteins"""	18943	protein-coding gene	gene with protein product						12359730	Standard	NM_181615		Approved	KAP20.1	uc011ade.2	Q3LI63	OTTHUMG00000057801	ENST00000334664.2:c.155C>T	21.37:g.31988928C>T	ENSP00000335503:p.Ser52Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_KRTAP	p.S52L	ENST00000334664.2	37	c.155	CCDS13603.1	21	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533663	0.27387	.	.	ENSG00000244624	ENST00000334664	T	0.30981	1.51	4.1	3.21	0.36854	.	0.655352	0.11666	U	0.541317	T	0.22166	0.0534	.	.	.	0.09310	N	1	B	0.30179	0.271	B	0.25405	0.06	T	0.17745	-1.0359	9	0.87932	D	0	.	7.582	0.27970	0.0:0.8864:0.0:0.1136	.	52	Q3LI63	KR201_HUMAN	L	52	ENSP00000335503:S52L	ENSP00000335503:S52L	S	+	2	0	KRTAP20-1	30910799	0.003000	0.15002	0.034000	0.17996	0.416000	0.31233	0.554000	0.23407	1.301000	0.44836	0.643000	0.83706	TCA	KRTAP20-1	-	NULL	ENSG00000244624		0.448	KRTAP20-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP20-1	HGNC	protein_coding	OTTHUMT00000128253.3	161	0.00	0	C			31988928	31988928	+1	no_errors	ENST00000334664	ensembl	human	known	69_37n	missense	157	47.67	143	SNP	0.038	T
KRTAP4-6	81871	genome.wustl.edu	37	17	39296555	39296555	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:39296555C>T	ENST00000345847.4	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	62	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)		p.R62H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						gcagctgggacggcagcAGGT	0.667																																						dbGAP											2	Substitution - Missense(2)	urinary_tract(1)|lung(1)																																								-	-	-	SO:0001583	missense	0			AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.185G>A	17.37:g.39296555C>T	ENSP00000328270:p.Arg62His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BYR1	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R62H	ENST00000345847.4	37	c.185	CCDS54125.1	17	.	.	.	.	.	.	.	.	.	.	.	12.34	1.910112	0.33721	.	.	ENSG00000198090	ENST00000345847	T	0.00612	6.22	4.8	-4.94	0.03057	.	1.669520	0.04239	N	0.336543	T	0.00552	0.0018	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44128	-0.9348	7	0.46703	T	0.11	.	0.5825	0.00714	0.3633:0.1775:0.1189:0.3402	.	.	.	.	H	62	ENSP00000328270:R62H	ENSP00000328270:R62H	R	-	2	0	KRTAP4-6	36550081	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.698000	0.05092	-0.422000	0.07405	-0.856000	0.03024	CGT	KRTAP4-6	-	pfam_Keratin-assoc	ENSG00000198090		0.667	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-6	HGNC	protein_coding	OTTHUMT00000257779.1	63	0.00	0	C			39296555	39296555	-1	no_errors	ENST00000345847	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	0.000	T
L1CAM	3897	genome.wustl.edu	37	X	153128186	153128186	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:153128186C>T	ENST00000370060.1	-	29	3895	c.3706G>A	c.(3706-3708)Gag>Aag	p.E1236K	L1CAM_ENST00000370057.3_Missense_Mutation_p.E1236K|L1CAM_ENST00000361981.3_Missense_Mutation_p.E1227K|L1CAM_ENST00000361699.4_Missense_Mutation_p.E1232K|L1CAM_ENST00000370055.1_Missense_Mutation_p.E1227K|L1CAM_ENST00000543994.1_Missense_Mutation_p.E1238K|L1CAM_ENST00000538883.1_Missense_Mutation_p.E1234K	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1236					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCGCCTCCTTCTCCTTC	0.602																																						dbGAP											0													92.0	74.0	80.0					X																	153128186		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3706G>A	X.37:g.153128186C>T	ENSP00000359077:p.Glu1236Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1238K	ENST00000370060.1	37	c.3712	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994267	0.74703	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000370058;ENST00000361699	T;T;T;T;T;T;D;T	0.83335	0.16;0.16;0.16;0.2;0.22;0.22;-1.71;0.18	4.7	3.84	0.44239	.	0.000000	0.52532	D	0.000063	D	0.84160	0.5411	L	0.38531	1.155	0.35292	D	0.782243	D;P;B	0.60575	0.988;0.889;0.063	D;P;B	0.63192	0.912;0.66;0.012	D	0.86596	0.1863	10	0.44086	T	0.13	.	11.2118	0.48804	0.0:0.9063:0.0:0.0937	.	1227;1232;1236	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	K	1236;1238;1236;1234;1227;1227;132;1232	ENSP00000359077:E1236K;ENSP00000438430:E1238K;ENSP00000359074:E1236K;ENSP00000439645:E1234K;ENSP00000354712:E1227K;ENSP00000359072:E1227K;ENSP00000359075:E132K;ENSP00000355380:E1232K	ENSP00000355380:E1232K	E	-	1	0	L1CAM	152781380	1.000000	0.71417	0.898000	0.35279	0.861000	0.49209	7.333000	0.79214	0.978000	0.38470	0.529000	0.55759	GAG	L1CAM	-	NULL	ENSG00000198910		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	45	0.00	0	C	NM_024003		153128186	153128186	-1	no_errors	ENST00000543994	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	T
LAMA4	3910	genome.wustl.edu	37	6	112441587	112441587	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:112441587G>A	ENST00000230538.7	-	33	4961	c.4564C>T	c.(4564-4566)Cta>Tta	p.L1522L	LAMA4_ENST00000522006.1_Silent_p.L1515L|LAMA4_ENST00000389463.4_Silent_p.L1515L|LAMA4_ENST00000424408.2_Silent_p.L1515L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1522	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCAAAAATAGAGTCATGAAG	0.413																																						dbGAP											0													99.0	92.0	94.0					6																	112441587		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4564C>T	6.37:g.112441587G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.L1522	ENST00000230538.7	37	c.4564	CCDS43491.1	6																																																																																			LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000112769		0.413	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	69	0.00	0	G	NM_001105206		112441587	112441587	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	silent	45	31.82	21	SNP	1.000	A
LAMB4	22798	genome.wustl.edu	37	7	107746285	107746285	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:107746285C>G	ENST00000388781.3	-	8	930	c.847G>C	c.(847-849)Gat>Cat	p.D283H	LAMB4_ENST00000388780.3_Missense_Mutation_p.D283H|LAMB4_ENST00000414450.2_Missense_Mutation_p.D283H|LAMB4_ENST00000205386.4_Missense_Mutation_p.D283H|LAMB4_ENST00000418464.1_Missense_Mutation_p.D283H	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	283	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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						CTGAAAACATCTCCCCGCATC	0.463																																						dbGAP											0													97.0	87.0	90.0					7																	107746285		2203	4300	6503	-	-	-	SO:0001583	missense	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.847G>C	7.37:g.107746285C>G	ENSP00000373433:p.Asp283His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.D283H	ENST00000388781.3	37	c.847	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346092	0.82022	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.34472	1.36;1.36;1.38;1.38;1.43	4.64	4.64	0.57946	EGF-like, laminin (3);	0.000000	0.51477	D	0.000099	T	0.63224	0.2493	M	0.80616	2.505	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.67225	-0.5724	10	0.51188	T	0.08	.	17.7268	0.88367	0.0:1.0:0.0:0.0	.	283	A4D0S4	LAMB4_HUMAN	H	283	ENSP00000205386:D283H;ENSP00000373433:D283H;ENSP00000373432:D283H;ENSP00000402353:D283H;ENSP00000402265:D283H	ENSP00000205386:D283H	D	-	1	0	LAMB4	107533521	1.000000	0.71417	0.770000	0.31555	0.975000	0.68041	5.123000	0.64703	2.407000	0.81776	0.655000	0.94253	GAT	LAMB4	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000091128		0.463	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	19	0.00	0	C	XM_209857		107746285	107746285	-1	no_errors	ENST00000205386	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	1.000	G
LAMC2	3918	genome.wustl.edu	37	1	183191238	183191238	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:183191238A>G	ENST00000264144.4	+	6	720	c.655A>G	c.(655-657)Aag>Gag	p.K219E	LAMC2_ENST00000493293.1_Missense_Mutation_p.K219E	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	219	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGATGGCTGGAAGGCTGTCCA	0.448																																						dbGAP											0													179.0	159.0	166.0					1																	183191238		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.655A>G	1.37:g.183191238A>G	ENSP00000264144:p.Lys219Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.K219E	ENST00000264144.4	37	c.655	CCDS1352.1	1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440168	0.43326	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.17213	2.44;2.29	4.76	4.76	0.60689	Laminin B type IV (1);Growth factor, receptor (1);	0.295543	0.30383	N	0.009755	T	0.15565	0.0375	L	0.41824	1.3	0.38944	D	0.958209	B;P	0.49253	0.105;0.921	B;B	0.43445	0.038;0.42	T	0.08351	-1.0726	10	0.23891	T	0.37	.	11.4839	0.50342	0.7664:0.2336:0.0:0.0	.	219;219	Q13753;Q13753-2	LAMC2_HUMAN;.	E	219	ENSP00000432063:K219E;ENSP00000264144:K219E	ENSP00000264144:K219E	K	+	1	0	LAMC2	181457861	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.776000	0.47709	1.782000	0.52362	0.528000	0.53228	AAG	LAMC2	-	superfamily_Growth_fac_rcpt,pfscan_Laminin_B_type_IV	ENSG00000058085		0.448	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	58	0.00	0	A	NM_005562		183191238	183191238	+1	no_errors	ENST00000264144	ensembl	human	known	69_37n	missense	108	15.50	20	SNP	1.000	G
LAPTM4A	9741	genome.wustl.edu	37	2	20234122	20234122	+	Missense_Mutation	SNP	C	C	T	rs145912850	byFrequency	TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:20234122C>T	ENST00000175091.4	-	6	1090	c.583G>A	c.(583-585)Gtg>Atg	p.V195M		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	195					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCGGCACGTTTCGGTTG	0.418																																					Ovarian(90;1240 1386 7711 14384 46863)	dbGAP											0													138.0	139.0	139.0					2																	20234122		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.583G>A	2.37:g.20234122C>T	ENSP00000175091:p.Val195Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW22	Missense_Mutation	SNP	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	p.V195M	ENST00000175091.4	37	c.583	CCDS1696.1	2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011541	0.35511	.	.	ENSG00000068697	ENST00000175091	T	0.49432	0.78	5.85	-0.653	0.11447	.	0.388327	0.31685	N	0.007232	T	0.14743	0.0356	N	0.02802	-0.49	0.24431	N	0.994573	B	0.24576	0.106	B	0.14023	0.01	T	0.07462	-1.0771	10	0.27785	T	0.31	-0.3066	0.6704	0.00858	0.4398:0.1547:0.1648:0.2406	.	195	Q15012	LAP4A_HUMAN	M	195	ENSP00000175091:V195M	ENSP00000175091:V195M	V	-	1	0	LAPTM4A	20097603	0.704000	0.27836	0.957000	0.39632	0.954000	0.61252	0.130000	0.15850	0.048000	0.15891	0.655000	0.94253	GTG	LAPTM4A	-	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	ENSG00000068697		0.418	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAPTM4A	HGNC	protein_coding	OTTHUMT00000207494.1	25	0.00	0	C	NM_014713		20234122	20234122	-1	no_errors	ENST00000175091	ensembl	human	known	69_37n	missense	42	33.33	21	SNP	0.994	T
LCA5	167691	genome.wustl.edu	37	6	80223093	80223093	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:80223093C>T	ENST00000392959.1	-	4	1167	c.556G>A	c.(556-558)Gag>Aag	p.E186K	LCA5_ENST00000369846.4_Missense_Mutation_p.E186K|LCA5_ENST00000467898.3_Missense_Mutation_p.E186K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	186					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACCCTTTTCTCAGTTGCCCGT	0.363																																						dbGAP											0													161.0	156.0	157.0					6																	80223093		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.556G>A	6.37:g.80223093C>T	ENSP00000376686:p.Glu186Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P542|Q9BWX7	Missense_Mutation	SNP	NULL	p.E186K	ENST00000392959.1	37	c.556	CCDS4990.1	6	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995102	0.93167	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.78364	-1.17;-1.17	6.07	6.07	0.98685	.	0.057054	0.64402	D	0.000002	D	0.85779	0.5776	M	0.66939	2.045	0.58432	D	0.999998	P;D	0.76494	0.909;0.999	P;D	0.71656	0.701;0.974	D	0.85604	0.1254	10	0.72032	D	0.01	-17.5312	19.6475	0.95784	0.0:1.0:0.0:0.0	.	186;186	B4DRL2;Q86VQ0	.;LCA5_HUMAN	K	186	ENSP00000358861:E186K;ENSP00000376686:E186K	ENSP00000358861:E186K	E	-	1	0	LCA5	80279812	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.195000	0.72088	2.885000	0.99019	0.655000	0.94253	GAG	LCA5	-	NULL	ENSG00000135338		0.363	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	HGNC	protein_coding	OTTHUMT00000259269.1	125	0.00	0	C	NM_181714		80223093	80223093	-1	no_errors	ENST00000369846	ensembl	human	known	69_37n	missense	139	28.35	55	SNP	1.000	T
LEPREL4	10609	genome.wustl.edu	37	17	39959674	39959674	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:39959674C>G	ENST00000355468.3	-	8	1622	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	LEPREL4_ENST00000393928.1_Missense_Mutation_p.E386Q			Q92791	SC65_HUMAN	leprecan-like 4	386	Asp/Glu-rich (acidic).				synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCTGTCTCCTCCAGCTCCATC	0.602																																						dbGAP											0													117.0	105.0	109.0					17																	39959674		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.1156G>C	17.37:g.39959674C>G	ENSP00000347649:p.Glu386Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GI6|Q9H4F6	Missense_Mutation	SNP	NULL	p.E386Q	ENST00000355468.3	37	c.1156	CCDS11408.1	17	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486215	0.26686	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.39056	1.1;1.1	5.8	2.7	0.31948	.	0.214325	0.47093	D	0.000241	T	0.22704	0.0548	L	0.27053	0.805	0.28150	N	0.929428	B;B	0.27351	0.176;0.091	B;B	0.28849	0.095;0.027	T	0.17410	-1.0370	10	0.11182	T	0.66	-14.6032	3.6889	0.08339	0.1383:0.5866:0.1332:0.1418	.	375;386	B4DVZ5;Q92791	.;SC65_HUMAN	Q	386;386;375	ENSP00000347649:E386Q;ENSP00000377505:E386Q	ENSP00000347649:E386Q	E	-	1	0	LEPREL4	37213200	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	1.787000	0.38704	0.383000	0.24910	-0.133000	0.14855	GAG	LEPREL4	-	NULL	ENSG00000141696		0.602	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL4	HGNC	protein_coding	OTTHUMT00000257439.2	43	0.00	0	C			39959674	39959674	-1	no_errors	ENST00000355468	ensembl	human	known	69_37n	missense	37	32.14	18	SNP	1.000	G
LILRB4	11006	genome.wustl.edu	37	19	55176603	55176603	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:55176603C>G	ENST00000391736.1	+	8	1044	c.729C>G	c.(727-729)ctC>ctG	p.L243L	LILRB4_ENST00000430952.2_Silent_p.L243L|LILRB4_ENST00000391734.3_Silent_p.L243L|LILRB4_ENST00000391733.3_Silent_p.L243L|LILRB4_ENST00000270452.2_Silent_p.L243L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	243					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACCAGCCCCTCATGCCTACAG	0.637																																						dbGAP											0													46.0	40.0	42.0					19																	55176603		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.729C>G	19.37:g.55176603C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	pfam_Immunoglobulin,pfscan_Ig-like	p.L243	ENST00000391736.1	37	c.729	CCDS12902.1	19																																																																																			LILRB4	-	NULL	ENSG00000186818		0.637	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	33	0.00	0	C			55176603	55176603	+1	no_errors	ENST00000270452	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.003	G
LRP1	4035	genome.wustl.edu	37	12	57604145	57604145	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:57604145C>T	ENST00000243077.3	+	82	13102	c.12636C>T	c.(12634-12636)ctC>ctT	p.L4212L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4212	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	GCTGTTTCCTCAATGCACGGA	0.632																																						dbGAP											0													51.0	51.0	51.0					12																	57604145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.12636C>T	12.37:g.57604145C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Silent	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.L4212	ENST00000243077.3	37	c.12636	CCDS8932.1	12																																																																																			LRP1	-	superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom	ENSG00000123384		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	15	0.00	0	C	NM_002332		57604145	57604145	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	silent	13	31.58	6	SNP	0.999	T
LRIG3	121227	genome.wustl.edu	37	12	59271206	59271206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:59271206C>A	ENST00000320743.3	-	15	2798	c.2512G>T	c.(2512-2514)Gaa>Taa	p.E838*	LRIG3_ENST00000379141.4_Nonsense_Mutation_p.E778*	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	838					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGCAATCTTCATTCCTCCGC	0.502			T	ROS1	NSCLC																																	dbGAP		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													187.0	114.0	138.0					12																	59271206		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2512G>T	12.37:g.59271206C>A	ENSP00000326759:p.Glu838*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXL7|Q8NC72	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E838*	ENST00000320743.3	37	c.2512	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	C	40	7.947085	0.98577	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	.	.	.	5.59	5.59	0.84812	.	0.000000	0.37761	N	0.001952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.961	0.97250	0.0:1.0:0.0:0.0	.	.	.	.	X	778;838	.	.	E	-	1	0	LRIG3	57557473	1.000000	0.71417	0.111000	0.21465	0.362000	0.29581	7.750000	0.85110	2.783000	0.95769	0.655000	0.94253	GAA	LRIG3	-	NULL	ENSG00000139263		0.502	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	36	0.00	0	C	NM_153377		59271206	59271206	-1	no_errors	ENST00000320743	ensembl	human	known	69_37n	nonsense	16	20.00	4	SNP	1.000	A
LRRCC1	85444	genome.wustl.edu	37	8	86027725	86027725	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:86027725C>T	ENST00000360375.3	+	6	985	c.836C>T	c.(835-837)tCt>tTt	p.S279F	LRRCC1_ENST00000414626.2_Missense_Mutation_p.S259F	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	279					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GTGTGTCAATCTTCTGAGCCA	0.368																																						dbGAP											0													95.0	88.0	90.0					8																	86027725		1876	4118	5994	-	-	-	SO:0001583	missense	0			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.836C>T	8.37:g.86027725C>T	ENSP00000353538:p.Ser279Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin	p.S279F	ENST00000360375.3	37	c.836	CCDS43750.1	8	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502967	0.44558	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.38722	1.25;1.12	5.08	5.08	0.68730	.	0.000000	0.36200	N	0.002732	T	0.60508	0.2274	M	0.67953	2.075	0.49483	D	0.999793	D;D;D	0.67145	0.99;0.988;0.996	P;P;P	0.62813	0.877;0.804;0.907	T	0.64241	-0.6454	10	0.66056	D	0.02	-5.1179	15.6031	0.76639	0.0:1.0:0.0:0.0	.	259;186;279	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	F	186;279;259	ENSP00000353538:S279F;ENSP00000394695:S259F	ENSP00000353538:S279F	S	+	2	0	LRRCC1	86214977	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	4.465000	0.60141	2.345000	0.79718	0.585000	0.79938	TCT	LRRCC1	-	NULL	ENSG00000133739		0.368	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	HGNC	protein_coding	OTTHUMT00000380267.1	40	0.00	0	C	NM_033402		86027725	86027725	+1	no_errors	ENST00000360375	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.998	T
LUC7L3	51747	genome.wustl.edu	37	17	48828109	48828109	+	3'UTR	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:48828109G>A	ENST00000505658.1	+	0	1575				LUC7L3_ENST00000544170.1_3'UTR|LUC7L3_ENST00000393227.2_Splice_Site_p.V427V|LUC7L3_ENST00000240304.1_Intron			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)						mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GTTTGACAGTGCAGCGTAAGT	0.393																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.*87G>A	17.37:g.48828109G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	NULL	p.A78T	ENST00000505658.1	37	c.232	CCDS11573.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.09|10.09	1.255821|1.255821	0.22965|0.22965	.|.	.|.	ENSG00000108848|ENSG00000108848	ENST00000511974;ENST00000513969|ENST00000503728	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|.	.|.	.|.	.|.	T|T	0.72236|0.72236	0.3435|0.3435	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69420|0.69420	-0.5150|-0.5150	4|4	.|.	.|.	.|.	.|.	15.9197|15.9197	0.79552|0.79552	0.0:0.0:0.8643:0.1357|0.0:0.0:0.8643:0.1357	.|.	.|.	.|.	.|.	T|Y	44;78|76	.|.	.|.	A|C	+|+	1|2	0|0	LUC7L3|LUC7L3	46183108|46183108	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.541000|7.541000	0.82084|0.82084	2.811000|2.811000	0.96726|0.96726	0.655000|0.655000	0.94253|0.94253	GCA|TGC	LUC7L3	-	NULL	ENSG00000108848		0.393	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	HGNC	protein_coding	OTTHUMT00000368205.2	9	0.00	0	G	NM_016424		48828109	48828109	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000513969	ensembl	human	putative	69_37n	missense	19	20.83	5	SNP	1.000	A
LZTS1	11178	genome.wustl.edu	37	8	20107469	20107469	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:20107469C>G	ENST00000381569.1	-	4	1912	c.1555G>C	c.(1555-1557)Gac>Cac	p.D519H	LZTS1_ENST00000265801.6_Missense_Mutation_p.D519H|LZTS1_ENST00000522290.1_Intron			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	519					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|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)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GACATCTGGTCATGGCCTTGC	0.667																																						dbGAP											0													78.0	81.0	80.0					8																	20107469		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1555G>C	8.37:g.20107469C>G	ENSP00000370981:p.Asp519His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	pfam_Fez1	p.D519H	ENST00000381569.1	37	c.1555	CCDS6015.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.7|21.7	4.189591|4.189591	0.78789|0.78789	.|.	.|.	ENSG00000061337|ENSG00000061337	ENST00000381569;ENST00000265801|ENST00000334294	T;T|.	0.47177|.	0.85;0.85|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.157526|.	0.53938|.	D|.	0.000041|.	T|T	0.57666|0.57666	0.2069|0.2069	N|N	0.25485|0.25485	0.75|0.75	0.43137|0.43137	D|D	0.994882|0.994882	B|.	0.24768|.	0.111|.	B|.	0.23275|.	0.045|.	T|T	0.61647|0.61647	-0.7020|-0.7020	10|6	0.54805|0.52906	T|T	0.06|0.07	-45.19|-45.19	16.846|16.846	0.85981|0.85981	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	519|.	Q9Y250|.	LZTS1_HUMAN|.	H|I	519|56	ENSP00000370981:D519H;ENSP00000265801:D519H|.	ENSP00000265801:D519H|ENSP00000335163:M56I	D|M	-|-	1|3	0|0	LZTS1|LZTS1	20151749|20151749	0.990000|0.990000	0.36364|0.36364	0.991000|0.991000	0.47740|0.47740	0.990000|0.990000	0.78478|0.78478	3.918000|3.918000	0.56432|0.56432	2.315000|2.315000	0.78130|0.78130	0.556000|0.556000	0.70494|0.70494	GAC|ATG	LZTS1	-	pfam_Fez1	ENSG00000061337		0.667	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	38	0.00	0	C	NM_021020		20107469	20107469	-1	no_errors	ENST00000265801	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	0.997	G
LY6H	4062	genome.wustl.edu	37	8	144239845	144239845	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:144239845C>T	ENST00000430474.2	-	4	410	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	LY6H_ENST00000342752.4_Missense_Mutation_p.R103Q|LY6H_ENST00000414417.2_Missense_Mutation_p.R103Q	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	82	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GAAAAAGTGTCGCTTAACGAA	0.547																																						dbGAP											0													111.0	113.0	112.0					8																	144239845		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.245G>A	8.37:g.144239845C>T	ENSP00000409899:p.Arg82Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAD2|J3KQI0|Q6IAX0	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.R103Q	ENST00000430474.2	37	c.308	CCDS6396.1	8	.	.	.	.	.	.	.	.	.	.	c	19.98	3.927512	0.73327	.	.	ENSG00000176956	ENST00000430474;ENST00000342752;ENST00000414417	T;T;T	0.42131	1.0;0.98;0.98	3.38	3.38	0.38709	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.160024	0.30085	N	0.010448	T	0.37348	0.1000	N	0.08118	0	0.34408	D	0.696098	D	0.71674	0.998	D	0.76575	0.988	T	0.33214	-0.9877	10	0.15066	T	0.55	-13.9589	10.5491	0.45077	0.0:1.0:0.0:0.0	.	82	O94772	LY6H_HUMAN	Q	82;103;103	ENSP00000409899:R82Q;ENSP00000342711:R103Q;ENSP00000399485:R103Q	ENSP00000342711:R103Q	R	-	2	0	LY6H	144311220	0.858000	0.29795	0.990000	0.47175	0.976000	0.68499	2.698000	0.47068	2.208000	0.71279	0.511000	0.50034	CGA	LY6H	-	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	ENSG00000176956		0.547	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6H	HGNC	protein_coding	OTTHUMT00000337535.1	44	0.00	0	C			144239845	144239845	-1	no_errors	ENST00000342752	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.990	T
MAGEA11	4110	genome.wustl.edu	37	X	148798335	148798335	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:148798335A>T	ENST00000355220.5	+	5	1291	c.1189A>T	c.(1189-1191)Atg>Ttg	p.M397L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.M368L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	397	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACCAGCAAGATGAAAGTTCT	0.547																																						dbGAP											0													164.0	135.0	144.0					X																	148798335		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1189A>T	X.37:g.148798335A>T	ENSP00000347358:p.Met397Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.M397L	ENST00000355220.5	37	c.1189	CCDS48180.1	X	.	.	.	.	.	.	.	.	.	.	N	11.65	1.700485	0.30142	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.05025	3.51;3.51	0.976	-0.387	0.12463	.	.	.	.	.	T	0.08846	0.0219	M	0.78285	2.405	0.09310	N	1	B;B	0.23185	0.035;0.081	B;B	0.28139	0.028;0.086	T	0.36187	-0.9758	8	.	.	.	.	3.7069	0.08404	0.5327:0.4673:0.0:0.0	.	368;397	G5E962;P43364	.;MAGAB_HUMAN	L	368;397	ENSP00000328177:M368L;ENSP00000347358:M397L	.	M	+	1	0	MAGEA11	148576070	0.012000	0.17670	0.189000	0.23252	0.668000	0.39293	-0.355000	0.07671	-0.181000	0.10619	0.350000	0.21858	ATG	MAGEA11	-	pfam_MAGE,pfscan_MAGE	ENSG00000185247		0.547	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEA11	HGNC	protein_coding	OTTHUMT00000058725.4	30	0.00	0	A	NM_005366		148798335	148798335	+1	no_errors	ENST00000355220	ensembl	human	known	69_37n	missense	33	18.60	8	SNP	0.183	T
MAGEB6	158809	genome.wustl.edu	37	X	26212603	26212603	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:26212603G>C	ENST00000379034.1	+	2	789	c.640G>C	c.(640-642)Gag>Cag	p.E214Q		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	214	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGAGAAGAAAGAGTCCATTTT	0.473																																						dbGAP											0													88.0	74.0	79.0					X																	26212603		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.640G>C	X.37:g.26212603G>C	ENSP00000368320:p.Glu214Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E214Q	ENST00000379034.1	37	c.640	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819062	0.32145	.	.	ENSG00000176746	ENST00000379034	T	0.04862	3.54	3.1	0.127	0.14727	.	0.597438	0.15357	U	0.266618	T	0.13670	0.0331	L	0.41632	1.29	0.09310	N	1	D	0.76494	0.999	D	0.77557	0.99	T	0.11542	-1.0583	10	0.39692	T	0.17	.	10.1616	0.42855	0.0:0.6197:0.3803:0.0	.	214	Q8N7X4	MAGB6_HUMAN	Q	214	ENSP00000368320:E214Q	ENSP00000368320:E214Q	E	+	1	0	MAGEB6	26122524	0.008000	0.16893	0.001000	0.08648	0.002000	0.02628	0.348000	0.20031	-0.080000	0.12685	-0.226000	0.12346	GAG	MAGEB6	-	pfam_MAGE,pfscan_MAGE	ENSG00000176746		0.473	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	31	0.00	0	G	NM_173523		26212603	26212603	+1	no_errors	ENST00000379034	ensembl	human	known	69_37n	missense	29	34.09	15	SNP	0.001	C
MAGEA8	4107	genome.wustl.edu	37	X	149013455	149013455	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:149013455G>A	ENST00000542674.1	+	3	930	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	MAGEA8_ENST00000535454.1_Missense_Mutation_p.E137K|MAGEA8_ENST00000286482.1_Missense_Mutation_p.E137K	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	137	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CACAAAGGCAGAAATGCTTGA	0.453																																						dbGAP											0													87.0	85.0	85.0					X																	149013455		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.409G>A	X.37:g.149013455G>A	ENSP00000443776:p.Glu137Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUN9	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E137K	ENST00000542674.1	37	c.409	CCDS14692.1	X	.	.	.	.	.	.	.	.	.	.	.	15.07	2.724890	0.48833	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.06608	3.28;3.28;3.28	0.963	0.963	0.19649	.	0.095084	0.64402	D	0.000002	T	0.23410	0.0566	M	0.89658	3.05	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02098	-1.1214	10	0.66056	D	0.02	.	4.9839	0.14180	0.0:0.0:1.0:0.0	.	137	P43361	MAGA8_HUMAN	K	137	ENSP00000438293:E137K;ENSP00000443776:E137K;ENSP00000286482:E137K	ENSP00000286482:E137K	E	+	1	0	MAGEA8	148774113	0.633000	0.27181	0.048000	0.18961	0.329000	0.28539	1.590000	0.36654	0.769000	0.33313	0.181000	0.17075	GAA	MAGEA8	-	pfam_MAGE,pfscan_MAGE	ENSG00000156009		0.453	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	47	0.00	0	G	NM_005364		149013455	149013455	+1	no_errors	ENST00000286482	ensembl	human	known	69_37n	missense	78	17.89	17	SNP	0.048	A
MAN2A1	4124	genome.wustl.edu	37	5	109120580	109120580	+	Silent	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:109120580T>C	ENST00000261483.4	+	10	2765	c.1713T>C	c.(1711-1713)gcT>gcC	p.A571A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	571					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)		ATCATGATGCTATCACAGGAA	0.343																																						dbGAP											0													122.0	122.0	122.0					5																	109120580		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	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.1713T>C	5.37:g.109120580T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16767	Silent	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.A571	ENST00000261483.4	37	c.1713	CCDS34209.1	5																																																																																			MAN2A1	-	pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom	ENSG00000112893		0.343	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	52	0.00	0	T			109120580	109120580	+1	no_errors	ENST00000261483	ensembl	human	known	69_37n	silent	70	10.26	8	SNP	0.940	C
MAN2A1	4124	genome.wustl.edu	37	5	109202657	109202657	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:109202657G>C	ENST00000261483.4	+	22	4445	c.3393G>C	c.(3391-3393)ttG>ttC	p.L1131F		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1131					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)		AGATCAACTTGAGTCCAATGG	0.393																																						dbGAP											0													144.0	131.0	135.0					5																	109202657		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.3393G>C	5.37:g.109202657G>C	ENSP00000261483:p.Leu1131Phe	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.L1131F	ENST00000261483.4	37	c.3393	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556894	0.65425	.	.	ENSG00000112893	ENST00000261483	D	0.85861	-2.04	6.03	5.16	0.70880	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.163741	0.41396	D	0.000899	D	0.89949	0.6863	M	0.81802	2.56	0.44711	D	0.997705	P	0.49253	0.921	P	0.56278	0.795	D	0.89958	0.4084	9	.	.	.	-15.8709	10.5767	0.45231	0.0689:0.1329:0.7982:0.0	.	1131	Q16706	MA2A1_HUMAN	F	1131	ENSP00000261483:L1131F	.	L	+	3	2	MAN2A1	109230556	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.605000	0.46283	1.551000	0.49450	0.655000	0.94253	TTG	MAN2A1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000112893		0.393	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	19	0.00	0	G			109202657	109202657	+1	no_errors	ENST00000261483	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	1.000	C
MANBA	4126	genome.wustl.edu	37	4	103592459	103592459	+	Silent	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:103592459G>C	ENST00000226578.4	-	9	1308	c.1209C>G	c.(1207-1209)ctC>ctG	p.L403L	MANBA_ENST00000505239.1_Silent_p.L346L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	403					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTTCATCACAGAGTTCATAGA	0.373																																						dbGAP											0													88.0	90.0	90.0					4																	103592459		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1209C>G	4.37:g.103592459G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BC3|Q9NYX9	Silent	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.L403	ENST00000226578.4	37	c.1209	CCDS3658.1	4																																																																																			MANBA	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF	ENSG00000109323		0.373	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2	46	0.00	0	G			103592459	103592459	-1	no_errors	ENST00000226578	ensembl	human	known	69_37n	silent	33	46.88	30	SNP	0.990	C
MAPK14	1432	genome.wustl.edu	37	6	36043611	36043611	+	Intron	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:36043611C>T	ENST00000229794.4	+	7	883				MAPK14_ENST00000229795.3_Intron|MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTCTGTTCCTCTTCTGCCCTT	0.433																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	dbGAP											0													95.0	88.0	90.0					6																	36043611		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.496-14C>T	6.37:g.36043611C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	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,pfscan_Prot_kinase_cat_dom	p.S170F	ENST00000229794.4	37	c.509	CCDS4816.1	6																																																																																			MAPK14	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000112062		0.433	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK14	HGNC	protein_coding	OTTHUMT00000357450.1	46	0.00	0	C	NM_001315		36043611	36043611	+1	no_errors	ENST00000491957	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	0.007	T
MAPRE1	22919	genome.wustl.edu	37	20	31434459	31434459	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:31434459G>A	ENST00000375571.5	+	6	772	c.633G>A	c.(631-633)gaG>gaA	p.E211E	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	211	DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AAGACTTGGAGAAAGAGAGGG	0.423																																						dbGAP											0													170.0	160.0	163.0					20																	31434459		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.633G>A	20.37:g.31434459G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.E211	ENST00000375571.5	37	c.633	CCDS13208.1	20																																																																																			MAPRE1	-	pfam_EB1_C	ENSG00000101367		0.423	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE1	HGNC	protein_coding	OTTHUMT00000078647.2	67	0.00	0	G	NM_012325		31434459	31434459	+1	no_errors	ENST00000375571	ensembl	human	known	69_37n	silent	50	21.88	14	SNP	1.000	A
MAST2	23139	genome.wustl.edu	37	1	46495164	46495164	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:46495164G>A	ENST00000361297.2	+	19	2528	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	MAST2_ENST00000372009.2_Missense_Mutation_p.E679K|MAST2_ENST00000477968.1_3'UTR	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGAGGGTGATGAGGCACTGCC	0.562																																						dbGAP											0													58.0	59.0	59.0					1																	46495164		1967	4151	6118	-	-	-	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2245G>A	1.37:g.46495164G>A	ENSP00000354671:p.Glu749Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E749K	ENST00000361297.2	37	c.2245	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762595	0.89932	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.24538	1.85;1.85;1.85	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.109595	0.64402	D	0.000010	T	0.23727	0.0574	N	0.25332	0.735	0.50813	D	0.999894	B;B;B;P	0.39131	0.081;0.032;0.117;0.661	B;B;B;B	0.39339	0.031;0.1;0.082;0.297	T	0.06972	-1.0797	10	0.72032	D	0.01	-9.0093	18.2058	0.89854	0.0:0.0:1.0:0.0	.	679;423;679;749	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	K	749;679;423;634	ENSP00000354671:E749K;ENSP00000361079:E679K;ENSP00000361078:E634K	ENSP00000354671:E749K	E	+	1	0	MAST2	46267751	1.000000	0.71417	0.968000	0.41197	0.972000	0.66771	9.869000	0.99810	2.291000	0.77112	0.555000	0.69702	GAG	MAST2	-	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	ENSG00000086015		0.562	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	32	0.00	0	G	NM_015112		46495164	46495164	+1	no_errors	ENST00000361297	ensembl	human	known	69_37n	missense	18	47.06	16	SNP	1.000	A
MBNL3	55796	genome.wustl.edu	37	X	131516235	131516235	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:131516235G>T	ENST00000370853.3	-	7	1102	c.1024C>A	c.(1024-1026)Ccg>Acg	p.P342T	MBNL3_ENST00000394311.2_Missense_Mutation_p.P246T|MBNL3_ENST00000538204.1_Missense_Mutation_p.P280T|MBNL3_ENST00000370839.3_Missense_Mutation_p.P307T|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.P246T|MBNL3_ENST00000370849.3_Missense_Mutation_p.P292T|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370857.3_Missense_Mutation_p.P330T	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	342					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GCAGCGAACGGAACGCTGGTG	0.458																																						dbGAP											0													225.0	194.0	204.0					X																	131516235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.1024C>A	X.37:g.131516235G>T	ENSP00000359890:p.Pro342Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	smart_Znf_CCCH	p.P342T	ENST00000370853.3	37	c.1024	CCDS14633.1	X	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769457	0.90020	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000442191	T;T;T	0.65916	0.44;-0.18;0.68	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.79793	0.4507	M	0.72894	2.215	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;0.997;0.999;0.999	T	0.79745	-0.1674	10	0.54805	T	0.06	-10.1085	19.371	0.94484	0.0:0.0:1.0:0.0	.	280;342;307;292;246	Q9NUK0-4;Q9NUK0;Q9NUK0-2;Q9NUK0-3;Q8IUR4	.;MBNL3_HUMAN;.;.;.	T	246;280;330;342;292;307;246;123	ENSP00000359894:P330T;ENSP00000359890:P342T;ENSP00000359876:P307T	ENSP00000359876:P307T	P	-	1	0	MBNL3	131343916	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.476000	0.97823	2.527000	0.85204	0.600000	0.82982	CCG	MBNL3	-	NULL	ENSG00000076770		0.458	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBNL3	HGNC	protein_coding	OTTHUMT00000058319.1	65	0.00	0	G	NM_018388		131516235	131516235	-1	no_errors	ENST00000370853	ensembl	human	known	69_37n	missense	78	27.10	29	SNP	1.000	T
MBOAT7	79143	genome.wustl.edu	37	19	54677870	54677870	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:54677870G>C	ENST00000245615.1	-	8	1767	c.1287C>G	c.(1285-1287)atC>atG	p.I429M	MBOAT7_ENST00000338624.6_Missense_Mutation_p.I356M|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.I356M|TMC4_ENST00000376591.4_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	429					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TACAGAAGTAGATGGAGGCCC	0.637																																					NSCLC(97;826 2151 10470 22540)	dbGAP											0													86.0	79.0	81.0					19																	54677870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1287C>G	19.37:g.54677870G>C	ENSP00000245615:p.Ile429Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	pfam_MBOAT_fam	p.I429M	ENST00000245615.1	37	c.1287	CCDS12883.1	19	.	.	.	.	.	.	.	.	.	.	g	17.98	3.521873	0.64747	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.18960	2.18;2.18;2.19	4.79	0.944	0.19537	.	0.529865	0.20649	N	0.088252	T	0.23688	0.0573	L	0.50333	1.59	0.51233	D	0.999912	B;P;B	0.49559	0.177;0.925;0.002	B;P;B	0.48840	0.186;0.592;0.002	T	0.02821	-1.1106	10	0.39692	T	0.17	-7.6573	9.8604	0.41112	0.0:0.2828:0.5715:0.1457	.	411;356;429	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	M	356;356;429	ENSP00000410503:I356M;ENSP00000344377:I356M;ENSP00000245615:I429M	ENSP00000245615:I429M	I	-	3	3	MBOAT7	59369682	1.000000	0.71417	0.969000	0.41365	0.955000	0.61496	3.089000	0.50183	0.493000	0.27837	0.480000	0.44947	ATC	MBOAT7	-	NULL	ENSG00000125505		0.637	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	24	0.00	0	G	NM_024298		54677870	54677870	-1	no_errors	ENST00000245615	ensembl	human	known	69_37n	missense	16	48.39	15	SNP	1.000	C
MCAT	27349	genome.wustl.edu	37	22	43537171	43537171	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:43537171C>T	ENST00000290429.6	-	2	553	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	MCAT_ENST00000327555.5_Missense_Mutation_p.E170K|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	170					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CCTGTACCTTCAGCAAATTCC	0.507																																						dbGAP											0													212.0	187.0	195.0					22																	43537171		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.508G>A	22.37:g.43537171C>T	ENSP00000290429:p.Glu170Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY72|O95510|O95511	Missense_Mutation	SNP	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase	p.E170K	ENST00000290429.6	37	c.508	CCDS33660.1	22	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821448	0.71028	.	.	ENSG00000100294	ENST00000327555;ENST00000290429	T;T	0.58060	0.36;0.36	4.32	3.3	0.37823	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.053759	0.64402	N	0.000001	T	0.58977	0.2160	L	0.59912	1.85	0.58432	D	0.999999	B;D	0.57571	0.322;0.98	B;P	0.56788	0.155;0.806	T	0.55730	-0.8095	10	0.31617	T	0.26	.	10.1455	0.42760	0.0:0.9058:0.0:0.0942	.	170;170	B0QY72;Q8IVS2	.;FABD_HUMAN	K	170	ENSP00000331306:E170K;ENSP00000290429:E170K	ENSP00000290429:E170K	E	-	1	0	MCAT	41867115	1.000000	0.71417	0.957000	0.39632	0.988000	0.76386	4.954000	0.63631	1.025000	0.39708	0.655000	0.94253	GAA	MCAT	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase	ENSG00000100294		0.507	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAT	HGNC	protein_coding	OTTHUMT00000319677.2	78	0.00	0	C	NM_173467		43537171	43537171	-1	no_errors	ENST00000290429	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	1.000	T
MED12	9968	genome.wustl.edu	37	X	70340925	70340925	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:70340925G>A	ENST00000374080.3	+	5	690	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	MED12_ENST00000333646.6_Missense_Mutation_p.G220R|MED12_ENST00000374102.1_Missense_Mutation_p.G220R			Q93074	MED12_HUMAN	mediator complex subunit 12	220					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCCACGATAGGGCCCTTGCC	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													84.0	82.0	83.0					X																	70340925		2019	4156	6175	-	-	-	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.658G>A	X.37:g.70340925G>A	ENSP00000363193:p.Gly220Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.G220R	ENST00000374080.3	37	c.658	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	15.49	2.848975	0.51164	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.57436	0.4;0.41;0.41;0.41	5.44	5.44	0.79542	.	0.115731	0.64402	D	0.000011	T	0.56016	0.1957	L	0.47716	1.5	0.50813	D	0.999896	B;P;P;P	0.47545	0.344;0.845;0.897;0.457	B;B;P;B	0.52758	0.3;0.265;0.708;0.222	T	0.49679	-0.8914	10	0.26408	T	0.33	-15.0353	12.5712	0.56339	0.0804:0.0:0.9196:0.0	.	220;67;220;220	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	R	220;220;220;220;188	ENSP00000333125:G220R;ENSP00000363215:G220R;ENSP00000363193:G220R;ENSP00000414203:G188R	ENSP00000333125:G220R	G	+	1	0	MED12	70257650	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	5.147000	0.64851	2.517000	0.84864	0.600000	0.82982	GGG	MED12	-	NULL	ENSG00000184634		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	25	0.00	0	G	NM_005120		70340925	70340925	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	0.927	A
MEF2A	4205	genome.wustl.edu	37	15	100185769	100185769	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:100185769A>T	ENST00000557785.1	+	4	407	c.58A>T	c.(58-60)Act>Tct	p.T20S	MEF2A_ENST00000453228.2_Missense_Mutation_p.T20S|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000354410.5_Missense_Mutation_p.T20S|MEF2A_ENST00000338042.6_Missense_Mutation_p.T20S|MEF2A_ENST00000557942.1_Missense_Mutation_p.T20S	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	20	Lys-rich (basic).|MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGTTTAGGTCACTTTTACAAA	0.318																																						dbGAP											0													66.0	65.0	65.0					15																	100185769		1857	4113	5970	-	-	-	SO:0001583	missense	0				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.58A>T	15.37:g.100185769A>T	ENSP00000453441:p.Thr20Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.T20S	ENST00000557785.1	37	c.58	CCDS53978.1	15	.	.	.	.	.	.	.	.	.	.	A	26.6	4.754394	0.89843	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042	D;D;D	0.86497	-2.13;-2.13;-2.13	5.19	5.19	0.71726	Transcription factor, MADS-box (6);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	M	0.86502	2.82	0.52501	D	0.999954	D;D;D;D	0.67145	0.996;0.991;0.995;0.979	D;P;D;P	0.68039	0.955;0.893;0.925;0.746	D	0.94803	0.7972	10	0.87932	D	0	-19.2326	15.0324	0.71717	1.0:0.0:0.0:0.0	.	20;20;20;20	Q02078;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.	S	20	ENSP00000404110:T20S;ENSP00000346389:T20S;ENSP00000337202:T20S	ENSP00000337202:T20S	T	+	1	0	MEF2A	98003292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.951000	0.56629	0.482000	0.46254	ACT	MEF2A	-	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	ENSG00000068305		0.318	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2A	HGNC	protein_coding	OTTHUMT00000415985.1	25	0.00	0	A			100185769	100185769	+1	no_errors	ENST00000338042	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	1.000	T
METTL25	84190	genome.wustl.edu	37	12	82783660	82783660	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:82783660G>C	ENST00000248306.3	+	3	559	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	164							methyltransferase activity (GO:0008168)										GGCAATGTCAGAGCTGATCAG	0.318																																						dbGAP											0													122.0	131.0	128.0					12																	82783660		2203	4296	6499	-	-	-	SO:0001583	missense	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.490G>C	12.37:g.82783660G>C	ENSP00000248306:p.Glu164Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5Y3	Missense_Mutation	SNP	NULL	p.E164Q	ENST00000248306.3	37	c.490	CCDS9024.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.438825|3.438825	0.62955|0.62955	.|.	.|.	ENSG00000127720|ENSG00000127720	ENST00000248306;ENST00000548200|ENST00000550058	T;T|.	0.46063|.	0.88;0.88|.	5.77|5.77	4.87|4.87	0.63330|0.63330	.|.	0.111142|.	0.64402|.	D|.	0.000005|.	T|T	0.68439|0.68439	0.3001|0.3001	L|L	0.54965|0.54965	1.715|1.715	0.49213|0.49213	D|D	0.999768|0.999768	P|.	0.43231|.	0.801|.	P|.	0.48089|.	0.566|.	T|T	0.66862|0.66862	-0.5816|-0.5816	10|5	0.34782|.	T|.	0.22|.	-17.0202|-17.0202	15.139|15.139	0.72595|0.72595	0.0:0.1409:0.8591:0.0|0.0:0.1409:0.8591:0.0	.|.	164|.	Q8N6Q8|.	CL026_HUMAN|.	Q|H	164|122	ENSP00000248306:E164Q;ENSP00000446878:E164Q|.	ENSP00000248306:E164Q|.	E|Q	+|+	1|3	0|2	C12orf26|C12orf26	81307791|81307791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	3.475000|3.475000	0.53136|0.53136	1.422000|1.422000	0.47177|0.47177	0.591000|0.591000	0.81541|0.81541	GAG|CAG	METTL25	-	NULL	ENSG00000127720		0.318	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	35	0.00	0	G	NM_032230		82783660	82783660	+1	no_errors	ENST00000248306	ensembl	human	known	69_37n	missense	38	34.48	20	SNP	1.000	C
MFSD3	113655	genome.wustl.edu	37	8	145736542	145736542	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:145736542C>G	ENST00000301327.4	+	5	1494	c.1234C>G	c.(1234-1236)Ctc>Gtc	p.L412V	RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	412					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGCACCTTTCTCTGAGCTGA	0.567																																						dbGAP											0													147.0	135.0	139.0					8																	145736542		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.1234C>G	8.37:g.145736542C>G	ENSP00000301327:p.Leu412Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L412V	ENST00000301327.4	37	c.1234	CCDS6431.1	8	.	.	.	.	.	.	.	.	.	.	C	6.060	0.379360	0.11466	.	.	ENSG00000167700	ENST00000301327	T	0.64438	-0.1	4.32	1.43	0.22495	.	0.553968	0.18323	N	0.144747	T	0.38081	0.1027	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.31223	-0.9951	10	0.87932	D	0	-34.3145	7.5884	0.28006	0.1036:0.5295:0.3669:0.0	.	412	Q96ES6	MFSD3_HUMAN	V	412	ENSP00000301327:L412V	ENSP00000301327:L412V	L	+	1	0	MFSD3	145707350	0.000000	0.05858	0.194000	0.23346	0.005000	0.04900	0.053000	0.14184	0.094000	0.17404	-0.502000	0.04539	CTC	MFSD3	-	NULL	ENSG00000167700		0.567	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD3	HGNC	protein_coding	OTTHUMT00000382478.2	55	0.00	0	C	NM_138431		145736542	145736542	+1	no_errors	ENST00000301327	ensembl	human	known	69_37n	missense	33	46.77	29	SNP	0.064	G
MID2	11043	genome.wustl.edu	37	X	107167684	107167684	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:107167684T>G	ENST00000262843.6	+	8	2095	c.1547T>G	c.(1546-1548)aTa>aGa	p.I516R	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.I486R	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	516	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GTTAAAGCCATAAACCAAGCC	0.448																																						dbGAP											0													79.0	64.0	69.0					X																	107167684		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1547T>G	X.37:g.107167684T>G	ENSP00000262843:p.Ile516Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I516R	ENST00000262843.6	37	c.1547	CCDS14532.2	X	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888857	0.91814	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.56275	1.09;0.47	5.99	5.99	0.97316	Fibronectin, type III (3);B30.2/SPRY domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	N	0.24115	0.695	0.80722	D	1	D;B	0.63046	0.992;0.133	P;B	0.62184	0.899;0.111	T	0.60682	-0.7215	10	0.59425	D	0.04	.	13.1933	0.59723	0.0:0.0:0.0:1.0	.	516;486	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	R	516;486	ENSP00000262843:I516R;ENSP00000413976:I486R	ENSP00000262843:I516R	I	+	2	0	MID2	107054340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.025000	0.59659	0.486000	0.48141	ATA	MID2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	ENSG00000080561		0.448	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2	29	0.00	0	T	NM_012216		107167684	107167684	+1	no_errors	ENST00000262843	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	1.000	G
MINPP1	9562	genome.wustl.edu	37	10	89312227	89312227	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:89312227G>A	ENST00000371996.4	+	5	1497	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	MINPP1_ENST00000536010.1_Missense_Mutation_p.E285K|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	486					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TACATCTGATGAACTATGAGT	0.358																																						dbGAP											0													75.0	78.0	77.0					10																	89312227		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1456G>A	10.37:g.89312227G>A	ENSP00000361064:p.Glu486Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk	p.E486K	ENST00000371996.4	37	c.1456	CCDS7384.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055005	0.75960	.	.	ENSG00000107789	ENST00000371996;ENST00000546140;ENST00000536010	T;T	0.80123	-1.34;-1.23	6.05	6.05	0.98169	.	0.112121	0.64402	D	0.000013	D	0.84973	0.5591	L	0.32530	0.975	0.58432	D	0.999998	D	0.76494	0.999	D	0.65987	0.94	D	0.84206	0.0453	10	0.48119	T	0.1	-30.6625	19.5894	0.95501	0.0:0.0:1.0:0.0	.	486	Q9UNW1	MINP1_HUMAN	K	486;345;285	ENSP00000361064:E486K;ENSP00000437823:E285K	ENSP00000361064:E486K	E	+	1	0	MINPP1	89302207	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	6.013000	0.70776	2.878000	0.98634	0.650000	0.86243	GAA	MINPP1	-	NULL	ENSG00000107789		0.358	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINPP1	HGNC	protein_coding	OTTHUMT00000049221.1	12	0.00	0	G			89312227	89312227	+1	no_errors	ENST00000371996	ensembl	human	known	69_37n	missense	10	61.54	16	SNP	1.000	A
MIR222	407007	genome.wustl.edu	37	X	45606466	45606466	+	RNA	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:45606466G>A	ENST00000384992.1	-	0	64				MIR221_ENST00000385135.1_RNA	NR_029636.1				microRNA 222																		TGTAGCTGCTGATTACGAAAG	0.488																																						dbGAP											0													46.0	39.0	41.0					X																	45606466		1568	3582	5150	-	-	-			0					Xp11.3	2011-09-12		2008-12-18	ENSG00000207725	ENSG00000207725		"""ncRNAs / Micro RNAs"""	31602	non-coding RNA	RNA, micro		300569		MIRN222			Standard	NR_029636		Approved	hsa-mir-222	uc011mlf.1				X.37:g.45606466G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000384992.1	37	NULL		X																																																																																			MIR222	-	-	ENSG00000207725		0.488	MIR222-201	KNOWN	basic	miRNA	MIR222	HGNC	miRNA		15	0.00	0	G	NR_029636		45606466	45606466	-1	no_errors	ENST00000384992	ensembl	human	known	69_37n	rna	20	41.18	14	SNP	1.000	A
MIR518C	574477	genome.wustl.edu	37	19	54214325	54214325	+	RNA	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:54214325G>C	ENST00000384822.1	+	0	101				MIR524_ENST00000385242.1_RNA|MIR517A_ENST00000385001.1_RNA|MIR519D_ENST00000385246.1_RNA	NR_030199.1				microRNA 518c																		CTTCCCTTTGGAGTGTTACGG	0.458																																						dbGAP											0													108.0	100.0	103.0					19																	54214325		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207553	ENSG00000207553		"""ncRNAs / Micro RNAs"""	32109	non-coding RNA	RNA, micro				MIRN518C			Standard	NR_030199		Approved	hsa-mir-518c	uc021vac.1				19.37:g.54214325G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000384822.1	37	NULL		19																																																																																			MIR524	-	-	ENSG00000207977		0.458	MIR518C-201	KNOWN	basic	miRNA	MIR524	HGNC	miRNA		72	0.00	0	G	NR_030199		54214325	54214325	+1	no_errors	ENST00000385242	ensembl	human	known	69_37n	rna	93	32.12	44	SNP	0.001	C
MKL1	57591	genome.wustl.edu	37	22	40825709	40825709	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:40825709C>T	ENST00000355630.3	-	7	792	c.202G>A	c.(202-204)Gat>Aat	p.D68N	MKL1_ENST00000396617.3_Missense_Mutation_p.D68N|MKL1_ENST00000407029.1_Missense_Mutation_p.D68N|MKL1_ENST00000402042.1_Missense_Mutation_p.D68N|MKL1_ENST00000402630.1_Missense_Mutation_p.D68N	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	68	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						TTGAGGTCATCGGCTAGTCTG	0.557			T	RBM15	acute megakaryocytic leukemia																																	dbGAP		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													107.0	93.0	98.0					22																	40825709		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.202G>A	22.37:g.40825709C>T	ENSP00000347847:p.Asp68Asn	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.D68N	ENST00000355630.3	37	c.202	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.802318	0.96960	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630	D;D;D;D;D	0.99832	-7.02;-7.02;-7.02;-7.02;-7.02	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.99;0.997	D	0.97139	0.9823	10	0.66056	D	0.02	-15.108	19.2381	0.93869	0.0:1.0:0.0:0.0	.	68;68;68	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	N	68	ENSP00000347847:D68N;ENSP00000379861:D68N;ENSP00000385584:D68N;ENSP00000385835:D68N;ENSP00000385076:D68N	ENSP00000347847:D68N	D	-	1	0	MKL1	39155655	1.000000	0.71417	0.960000	0.40013	0.987000	0.75469	6.053000	0.71089	2.633000	0.89246	0.467000	0.42956	GAT	MKL1	-	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	ENSG00000196588		0.557	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKL1	HGNC	protein_coding	OTTHUMT00000321522.1	48	0.00	0	C	NM_020831		40825709	40825709	-1	no_errors	ENST00000355630	ensembl	human	known	69_37n	missense	58	24.68	19	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49440498	49440498	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:49440498C>T	ENST00000301067.7	-	15	4311	c.4312G>A	c.(4312-4314)Gac>Aac	p.D1438N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1438	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGTGAGGGGTCGGAGGCCTGG	0.587																																						dbGAP											0													65.0	72.0	70.0					12																	49440498		2116	4220	6336	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4312G>A	12.37:g.49440498C>T	ENSP00000301067:p.Asp1438Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Missense_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_PHD-finger,pfscan_Znf_RING	p.D1438N	ENST00000301067.7	37	c.4312	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206642	0.58343	.	.	ENSG00000167548	ENST00000301067	D	0.88201	-2.35	5.09	5.09	0.68999	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.38959	N	0.001503	D	0.92335	0.7568	L	0.42632	1.34	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	D	0.93270	0.6651	10	0.87932	D	0	.	17.2846	0.87138	0.0:1.0:0.0:0.0	.	1438	O14686	MLL2_HUMAN	N	1438	ENSP00000301067:D1438N	ENSP00000301067:D1438N	D	-	1	0	MLL2	47726765	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.818000	0.86416	2.367000	0.80283	0.561000	0.74099	GAC	MLL2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000167548		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	26	0.00	0	C			49440498	49440498	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	11	29.41	5	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151880189	151880189	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:151880189G>C	ENST00000262189.6	-	35	5353	c.5135C>G	c.(5134-5136)tCa>tGa	p.S1712*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S1712*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1712					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)										GGAATCATTTGACATCTGTAC	0.348																																						dbGAP											0													304.0	313.0	310.0					7																	151880189		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.5135C>G	7.37:g.151880189G>C	ENSP00000262189:p.Ser1712*	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.S1712*	ENST00000262189.6	37	c.5135	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	47	13.864323	0.99767	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.1	5.1	0.69264	.	0.000000	0.37393	N	0.002107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.9021	0.92446	0.0:0.0:1.0:0.0	.	.	.	.	X	1712	.	ENSP00000262189:S1712X	S	-	2	0	MLL3	151511122	1.000000	0.71417	0.968000	0.41197	0.966000	0.64601	9.542000	0.98086	2.551000	0.86045	0.563000	0.77884	TCA	MLL3	-	smart_HMG_superfamily	ENSG00000055609		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	66	0.00	0	G			151880189	151880189	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	101	31.29	46	SNP	1.000	C
MLYCD	23417	genome.wustl.edu	37	16	83948687	83948687	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:83948687G>A	ENST00000262430.4	+	5	1094	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	359	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TACAGATTCGGAATGTAAGGA	0.522																																						dbGAP											0													174.0	177.0	176.0					16																	83948687		1974	4165	6139	-	-	-	SO:0001583	missense	0			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1075G>A	16.37:g.83948687G>A	ENSP00000262430:p.Glu359Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	pfam_Malonyl_CoA_deC	p.E359K	ENST00000262430.4	37	c.1075	CCDS42206.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497585	0.85069	.	.	ENSG00000103150	ENST00000262430	D	0.89810	-2.57	4.89	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	M	0.69523	2.12	0.58432	D	0.999999	D	0.52996	0.957	P	0.56612	0.802	D	0.92381	0.5913	10	0.66056	D	0.02	-26.01	13.3185	0.60421	0.0817:0.0:0.9183:0.0	.	359	O95822	DCMC_HUMAN	K	359	ENSP00000262430:E359K	ENSP00000262430:E359K	E	+	1	0	MLYCD	82506188	1.000000	0.71417	0.041000	0.18516	0.003000	0.03518	6.944000	0.75940	2.445000	0.82738	0.511000	0.50034	GAA	MLYCD	-	pfam_Malonyl_CoA_deC	ENSG00000103150		0.522	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLYCD	HGNC	protein_coding	OTTHUMT00000433009.1	59	0.00	0	G	NM_012213		83948687	83948687	+1	no_errors	ENST00000262430	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	0.938	A
MMGT1	93380	genome.wustl.edu	37	X	135055869	135055869	+	5'UTR	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:135055869G>A	ENST00000305963.2	-	0	353				MMGT1_ENST00000433339.2_Missense_Mutation_p.S54L	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1						magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						CAAAAGAAGCGAAGGACGGCG	0.622																																						dbGAP											0													24.0	16.0	19.0					X																	135055869		1769	3243	5012	-	-	-	SO:0001623	5_prime_UTR_variant	0			AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"""ER membrane protein complex subunit 5"""		"""transmembrane protein 32"""	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.-35C>T	X.37:g.135055869G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	pfam_Magnesium_transport	p.S54L	ENST00000305963.2	37	c.161	CCDS14653.1	X	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612901	0.46631	.	.	ENSG00000169446	ENST00000433339	.	.	.	5.02	2.3	0.28687	.	.	.	.	.	T	0.30103	0.0754	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.30621	-0.9972	7	0.87932	D	0	.	4.1075	0.10043	0.1988:0.0:0.6186:0.1826	.	54	Q8N4V1-2	.	L	54	.	ENSP00000411359:S54L	S	-	2	0	MMGT1	134883535	0.048000	0.20356	0.087000	0.20705	0.080000	0.17528	0.458000	0.21892	0.161000	0.19458	-0.197000	0.12766	TCG	MMGT1	-	NULL	ENSG00000169446		0.622	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMGT1	HGNC	protein_coding	OTTHUMT00000058453.3	10	0.00	0	G	NM_173470		135055869	135055869	-1	no_errors	ENST00000433339	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.057	A
MMP21	118856	genome.wustl.edu	37	10	127461192	127461192	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:127461192G>C	ENST00000368808.3	-	3	824	c.825C>G	c.(823-825)atC>atG	p.I275M		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	275					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	TGAGAAGGCTGATGCCCGTGT	0.552																																						dbGAP											0													161.0	140.0	147.0					10																	127461192		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.825C>G	10.37:g.127461192G>C	ENSP00000357798:p.Ile275Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZP9|Q8NG02	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.I275M	ENST00000368808.3	37	c.825	CCDS7647.1	10	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453628	0.63290	.	.	ENSG00000154485	ENST00000368808	T	0.22336	1.96	4.51	3.62	0.41486	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.114665	0.56097	D	0.000022	T	0.35307	0.0927	L	0.60845	1.875	0.46521	D	0.999085	D	0.52996	0.957	P	0.61328	0.887	T	0.03534	-1.1027	10	0.33940	T	0.23	-22.3371	10.5189	0.44907	0.0952:0.0:0.9048:0.0	.	275	Q8N119	MMP21_HUMAN	M	275	ENSP00000357798:I275M	ENSP00000357798:I275M	I	-	3	3	MMP21	127451182	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.032000	0.49736	1.132000	0.42129	-0.254000	0.11334	ATC	MMP21	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000154485		0.552	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP21	HGNC	protein_coding	OTTHUMT00000050928.1	35	0.00	0	G			127461192	127461192	-1	no_errors	ENST00000368808	ensembl	human	known	69_37n	missense	22	53.19	25	SNP	1.000	C
MMRN1	22915	genome.wustl.edu	37	4	90857263	90857263	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:90857263G>C	ENST00000394980.1	+	7	2751	c.2432G>C	c.(2431-2433)aGa>aCa	p.R811T	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.R811T|MMRN1_ENST00000508372.1_Missense_Mutation_p.R553T			Q13201	MMRN1_HUMAN	multimerin 1	811					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GGTATTCCCAGAGATGAGAAA	0.383																																						dbGAP											0													40.0	43.0	42.0					4																	90857263		2202	4299	6501	-	-	-	SO:0001583	missense	0			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2432G>C	4.37:g.90857263G>C	ENSP00000378431:p.Arg811Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.R811T	ENST00000394980.1	37	c.2432	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	G	0.594	-0.831769	0.02713	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.64438	0.25;0.25;-0.1	5.07	2.67	0.31697	.	0.905748	0.09704	N	0.766543	T	0.38026	0.1025	N	0.08118	0	0.37911	D	0.931354	B	0.17465	0.022	B	0.14023	0.01	T	0.18840	-1.0324	10	0.22109	T	0.4	.	6.2402	0.20787	0.6617:0.1734:0.1649:0.0	.	811	Q13201	MMRN1_HUMAN	T	811;811;553	ENSP00000378431:R811T;ENSP00000264790:R811T;ENSP00000426461:R553T	ENSP00000264790:R811T	R	+	2	0	MMRN1	91076286	0.469000	0.25846	0.593000	0.28771	0.149000	0.21700	3.172000	0.50832	0.479000	0.27511	-0.312000	0.09012	AGA	MMRN1	-	NULL	ENSG00000138722		0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	14	0.00	0	G	NM_007351		90857263	90857263	+1	no_errors	ENST00000264790	ensembl	human	known	69_37n	missense	15	40.00	10	SNP	0.485	C
MN1	4330	genome.wustl.edu	37	22	28192899	28192899	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:28192899C>T	ENST00000302326.4	-	1	4587	c.3633G>A	c.(3631-3633)atG>atA	p.M1211I		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1211					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						CAATGGTGCTCATGGCGCTCT	0.662			T	ETV6	"""AML, meningioma"""																																	dbGAP		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													46.0	48.0	47.0					22																	28192899		2156	4266	6422	-	-	-	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.3633G>A	22.37:g.28192899C>T	ENSP00000304956:p.Met1211Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1V9	Missense_Mutation	SNP	NULL	p.M1211I	ENST00000302326.4	37	c.3633	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470837	0.63625	.	.	ENSG00000169184	ENST00000302326	T	0.49139	0.79	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	N	0.24115	0.695	0.48236	D	0.999616	P	0.42941	0.794	B	0.43052	0.406	T	0.40232	-0.9574	10	0.51188	T	0.08	-13.7433	17.4561	0.87607	0.0:1.0:0.0:0.0	.	1211	Q10571	MN1_HUMAN	I	1211	ENSP00000304956:M1211I	ENSP00000304956:M1211I	M	-	3	0	MN1	26522899	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.249000	0.78278	2.349000	0.79799	0.456000	0.33151	ATG	MN1	-	NULL	ENSG00000169184		0.662	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	23	0.00	0	C	NM_002430		28192899	28192899	-1	no_errors	ENST00000302326	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	1.000	T
MPZL1	9019	genome.wustl.edu	37	1	167741609	167741609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:167741609C>A	ENST00000359523.2	+	3	558	c.356C>A	c.(355-357)tCa>tAa	p.S119*	MPZL1_ENST00000474859.1_Nonsense_Mutation_p.S119*|MPZL1_ENST00000392121.3_Intron	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	119	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)	p.S119L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AAAGATGCATCAATCAACATA	0.433																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											134.0	113.0	120.0					1																	167741609		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.356C>A	1.37:g.167741609C>A	ENSP00000352513:p.Ser119*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.S119*	ENST00000359523.2	37	c.356	CCDS1264.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.707916	0.97780	.	.	ENSG00000197965	ENST00000359523;ENST00000474859;ENST00000367853	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7679	0.91880	0.0:1.0:0.0:0.0	.	.	.	.	X	119;119;93	.	ENSP00000352513:S119X	S	+	2	0	MPZL1	166008233	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	6.535000	0.73838	2.619000	0.88677	0.557000	0.71058	TCA	MPZL1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	ENSG00000197965		0.433	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	50	0.00	0	C	NM_024569		167741609	167741609	+1	no_errors	ENST00000359523	ensembl	human	known	69_37n	nonsense	39	47.30	35	SNP	0.998	A
MRPL45P2	653479	genome.wustl.edu	37	17	45567604	45567604	+	RNA	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:45567604G>A	ENST00000575291.1	-	0	312									mitochondrial ribosomal protein L45 pseudogene 2																		TCTCTCCTTTGAAAGAGATGA	0.388																																						dbGAP											0																																										-	-	-			0					17q21.32	2010-09-29				ENSG00000228782			29716	pseudogene	pseudogene						12706105	Standard	NR_033934		Approved		uc002ilq.3				17.37:g.45567604G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000575291.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	.	8.144	0.785949	0.16189	.	.	ENSG00000228782	ENST00000425159	.	.	.	2.85	1.86	0.25419	.	.	.	.	.	T	0.46054	0.1373	.	.	.	.	.	.	.	.	.	.	.	.	T	0.54938	-0.8218	4	0.49607	T	0.09	-3.133	6.579	0.22583	0.1442:0.0:0.8558:0.0	.	.	.	.	L	101	.	ENSP00000411291:S101L	S	-	2	0	AC040934.1	42922603	1.000000	0.71417	0.962000	0.40283	0.188000	0.23474	3.564000	0.53791	0.499000	0.27970	-0.717000	0.03617	TCA	MRPL45P2	-	-	ENSG00000228782		0.388	MRPL45P2-001	KNOWN	basic	processed_transcript	MRPL45P2	HGNC	pseudogene	OTTHUMT00000441112.1	25	0.00	0	G	NR_033934		45567604	45567604	-1	no_errors	ENST00000425159	ensembl	human	known	69_37n	rna	56	21.13	15	SNP	0.950	A
MRPL38	64978	genome.wustl.edu	37	17	73895240	73895240	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:73895240C>T	ENST00000309352.3	-	8	1542	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	MRPL38_ENST00000409963.3_Splice_Site_p.L151L|MRPL38_ENST00000585475.1_5'Flank|RP11-552F3.10_ENST00000587267.1_RNA|TRIM65_ENST00000269383.3_5'Flank	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	335						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCCTTACCCAGAAGCTGGT	0.602																																						dbGAP											0													28.0	26.0	26.0					17																	73895240		2196	4287	6483	-	-	-	SO:0001630	splice_region_variant	0			AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.1006+1G>A	17.37:g.73895240C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN96|Q96Q66|Q9P0B9	Silent	SNP	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	p.L335	ENST00000309352.3	37	c.1005	CCDS11733.2	17																																																																																			MRPL38	-	NULL	ENSG00000204316		0.602	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL38	HGNC	protein_coding	OTTHUMT00000328829.1	31	0.00	0	C	NM_032478	Silent	73895240	73895240	-1	no_errors	ENST00000309352	ensembl	human	known	69_37n	silent	23	23.33	7	SNP	0.979	T
MT4	84560	genome.wustl.edu	37	16	56601663	56601663	+	Splice_Site	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:56601663G>T	ENST00000219162.3	+	2	112	c.32G>T	c.(31-33)gGa>gTa	p.G11V		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	11					cellular metal ion homeostasis (GO:0006875)		metal ion binding (GO:0046872)			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCTTCTAGGAGGAATCTGC	0.522																																						dbGAP											0													141.0	142.0	142.0					16																	56601663		2112	4252	6364	-	-	-	SO:0001630	splice_region_variant	0			BC113442	CCDS42165.1	16q13	2014-09-04	2007-01-26		ENSG00000102891	ENSG00000102891		"""Metallothioneins"""	18705	protein-coding gene	gene with protein product		606206	"""metallothionein IV"""			8003488	Standard	NM_032935		Approved	MTIV	uc002eje.1	P47944	OTTHUMG00000176863	ENST00000219162.3:c.32-1G>T	16.37:g.56601663G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DA1	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.G11V	ENST00000219162.3	37	c.32	CCDS42165.1	16	.	.	.	.	.	.	.	.	.	.	G	6.278	0.419373	0.11928	.	.	ENSG00000102891	ENST00000219162	T	0.11821	2.74	5.73	3.79	0.43588	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.276731	0.35262	N	0.003339	T	0.20170	0.0485	.	.	.	0.80722	D	1	P	0.46142	0.873	P	0.50970	0.655	T	0.00964	-1.1498	8	.	.	.	.	8.6211	0.33861	0.175:0.0:0.825:0.0	.	11	P47944	MT4_HUMAN	V	11	ENSP00000219162:G11V	.	G	+	2	0	MT4	55159164	1.000000	0.71417	0.944000	0.38274	0.361000	0.29550	2.581000	0.46077	0.790000	0.33803	0.591000	0.81541	GGA	MT4	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000102891		0.522	MT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT4	HGNC	protein_coding	OTTHUMT00000434118.1	40	0.00	0	G	NM_032935	Missense_Mutation	56601663	56601663	+1	no_errors	ENST00000219162	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.993	T
MT1G	4495	genome.wustl.edu	37	16	56700792	56700792	+	Nonstop_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:56700792C>G	ENST00000379811.3	-	3	259	c.188G>C	c.(187-189)tGa>tCa	p.*63S	MT1H_ENST00000569155.1_5'Flank|MT1G_ENST00000569500.1_Nonstop_Mutation_p.*40S|MT1H_ENST00000332374.4_5'Flank|MT1G_ENST00000568675.1_3'UTR|MT1G_ENST00000444837.2_Nonstop_Mutation_p.*62S			P13640	MT1G_HUMAN	metallothionein 1G	0					cellular response to cadmium ion (GO:0071276)|cellular response to copper ion (GO:0071280)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cellular response to zinc ion (GO:0071294)|monocyte activation (GO:0042117)|monocyte differentiation (GO:0030224)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(1)|lung(2)	5						GTCCCGACATCAGGCGCAGCA	0.547																																						dbGAP											0													79.0	82.0	81.0					16																	56700792		2198	4300	6498	-	-	-	SO:0001578	stop_lost	0			BC020757	CCDS10766.1	16q13	2008-02-05			ENSG00000125144	ENSG00000125144		"""Metallothioneins"""	7399	protein-coding gene	gene with protein product	"""metallothionein 1K"""	156353		MT1		3403543, 6089206	Standard	NM_001301267		Approved	MT1K	uc002eju.1	P13640	OTTHUMG00000133275	ENST00000379811.3:c.188G>C	16.37:g.56700792C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P80296	Nonstop_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.*63S	ENST00000379811.3	37	c.188		16	.	.	.	.	.	.	.	.	.	.	C	1.823	-0.471760	0.04445	.	.	ENSG00000125144	ENST00000379811;ENST00000444837	.	.	.	2.94	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0144	0.58749	0.0:1.0:0.0:0.0	.	.	.	.	S	63;62	.	.	X	-	2	2	MT1G	55258293	0.989000	0.36119	0.934000	0.37439	0.009000	0.06853	0.375000	0.20518	1.638000	0.50547	0.174000	0.16983	TGA	MT1G	-	NULL	ENSG00000125144		0.547	MT1G-001	KNOWN	basic	protein_coding	MT1G	HGNC	protein_coding	OTTHUMT00000257054.1	62	0.00	0	C	NM_005950		56700792	56700792	-1	no_errors	ENST00000379811	ensembl	human	known	69_37n	nonstop	60	25.93	21	SNP	0.997	G
MTA2	9219	genome.wustl.edu	37	11	62367698	62367699	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:62367698_62367699delAG	ENST00000278823.2	-	3	518_519	c.129_130delCT	c.(127-132)gtctgtfs	p.C44fs	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	44	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						cggaaaagacagacaacctttg	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.129_130delCT	11.37:g.62367698_62367699delAG	ENSP00000278823:p.Cys44fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DB1|Q9UQB5	Frame_Shift_Del	DEL	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.C44fs	ENST00000278823.2	37	c.130_129	CCDS8022.1	11																																																																																			MTA2	-	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000149480		0.436	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	53	0.00	0	AG	NM_004739		62367698	62367699	-1	no_errors	ENST00000278823	ensembl	human	known	69_37n	frame_shift_del	57	22.97	17	DEL	1.000:1.000	-
MTERF2	80298	genome.wustl.edu	37	12	107371776	107371776	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:107371776G>A	ENST00000552029.1	-	2	2785	c.717C>T	c.(715-717)ttC>ttT	p.F239F	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Silent_p.F239F|MTERFD3_ENST00000240050.4_Silent_p.F239F			Q49AM1	MTEF2_HUMAN		239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CAAAGCTGGTGAAACCTTGCT	0.343																																						dbGAP											0													57.0	64.0	62.0					12																	107371776		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000552029.1:c.717C>T	12.37:g.107371776G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.F239	ENST00000552029.1	37	c.717	CCDS9111.1	12																																																																																			MTERFD3	-	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	ENSG00000120832		0.343	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MTERFD3	HGNC	protein_coding	OTTHUMT00000406835.1	22	0.00	0	G			107371776	107371776	-1	no_errors	ENST00000240050	ensembl	human	known	69_37n	silent	21	22.22	6	SNP	0.999	A
MUC17	140453	genome.wustl.edu	37	7	100678637	100678637	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:100678637G>A	ENST00000306151.4	+	3	4004	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1314	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTAATGAAGTCAGTTC	0.463																																						dbGAP											0													242.0	228.0	233.0					7																	100678637		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3940G>A	7.37:g.100678637G>A	ENSP00000302716:p.Glu1314Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1314K	ENST00000306151.4	37	c.3940	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	3.582	-0.085432	0.07097	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.471	0.471	0.16752	.	.	.	.	.	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.37220	-0.9715	8	0.06099	T	0.92	.	.	.	.	.	1314	Q685J3	MUC17_HUMAN	K	1314	ENSP00000302716:E1314K	ENSP00000302716:E1314K	E	+	1	0	MUC17	100465357	0.030000	0.19436	0.001000	0.08648	0.011000	0.07611	1.006000	0.29847	0.558000	0.29135	0.134000	0.15878	GAA	MUC17	-	NULL	ENSG00000169876		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	91	0.00	0	G	NM_001040105		100678637	100678637	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	111	23.13	34	SNP	0.001	A
MUSK	4593	genome.wustl.edu	37	9	113457776	113457776	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:113457776C>G	ENST00000374448.4	+	4	586	c.452C>G	c.(451-453)tCa>tGa	p.S151*	MUSK_ENST00000374439.1_Nonsense_Mutation_p.S33*|MUSK_ENST00000189978.5_Nonsense_Mutation_p.S151*|MUSK_ENST00000416899.2_Nonsense_Mutation_p.S151*|MUSK_ENST00000374440.3_Nonsense_Mutation_p.S33*	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	151	Ig-like 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCCAAACCATCAGTGTCTTGG	0.333																																						dbGAP											0													50.0	47.0	48.0					9																	113457776		1822	4060	5882	-	-	-	SO:0001587	stop_gained	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.452C>G	9.37:g.113457776C>G	ENSP00000363571:p.Ser151*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S151*	ENST00000374448.4	37	c.452	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.479682	0.98829	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374440;ENST00000416899;ENST00000374439	.	.	.	5.97	5.97	0.96955	.	0.320112	0.34435	N	0.003969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4206	0.94720	0.0:1.0:0.0:0.0	.	.	.	.	X	151;151;151;151;151;33;151;33	.	ENSP00000189978:S151X	S	+	2	0	MUSK	112497597	0.998000	0.40836	0.331000	0.25455	0.989000	0.77384	3.991000	0.56973	2.833000	0.97629	0.585000	0.79938	TCA	MUSK	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000030304		0.333	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		36	0.00	0	C			113457776	113457776	+1	no_errors	ENST00000189978	ensembl	human	known	69_37n	nonsense	41	31.67	19	SNP	0.961	G
MXRA5	25878	genome.wustl.edu	37	X	3248093	3248093	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:3248093C>A	ENST00000217939.6	-	4	829	c.675G>T	c.(673-675)atG>atT	p.M225I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	225	LRRCT.					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)				AAAACCATCTCATCTCACAAT	0.463																																						dbGAP											0													59.0	56.0	57.0					X																	3248093		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.675G>T	X.37:g.3248093C>A	ENSP00000217939:p.Met225Ile	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.M225I	ENST00000217939.6	37	c.675	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329087	0.24167	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02236	4.38	3.56	0.43	0.16515	Cysteine-rich flanking region, C-terminal (1);	0.231842	0.20603	U	0.089110	T	0.02119	0.0066	L	0.54863	1.705	0.09310	N	1	B	0.22800	0.075	B	0.16289	0.015	T	0.42413	-0.9453	10	0.37606	T	0.19	.	1.8546	0.03176	0.1432:0.4426:0.1395:0.2747	.	225	Q9NR99	MXRA5_HUMAN	I	225	ENSP00000217939:M225I	ENSP00000217939:M225I	M	-	3	0	MXRA5	3258093	0.111000	0.22076	0.001000	0.08648	0.010000	0.07245	0.077000	0.14738	0.502000	0.28037	0.597000	0.82753	ATG	MXRA5	-	smart_Cys-rich_flank_reg_C	ENSG00000101825		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	54	0.00	0	C	NM_015419		3248093	3248093	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	0.018	A
MYH10	4628	genome.wustl.edu	37	17	8384677	8384677	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:8384677C>G	ENST00000269243.4	-	36	5272	c.5134G>C	c.(5134-5136)Gag>Cag	p.E1712Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E1728Q|MYH10_ENST00000360416.3_Missense_Mutation_p.E1743Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1733Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1712					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCGCCAGCTCATCTCTCTCC	0.612																																						dbGAP											0													116.0	100.0	105.0					17																	8384677		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5134G>C	17.37:g.8384677C>G	ENSP00000269243:p.Glu1712Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1733Q	ENST00000269243.4	37	c.5197	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739892	0.69304	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.08	5.08	0.68730	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.93150	3.385	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.996	D;D;D	0.74674	0.984;0.972;0.984	D	0.95598	0.8660	10	0.87932	D	0	.	18.6618	0.91474	0.0:1.0:0.0:0.0	.	1721;1743;1712	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1712;1743;1733;1728	ENSP00000269243:E1712Q;ENSP00000353590:E1743Q;ENSP00000379539:E1733Q;ENSP00000369315:E1728Q	ENSP00000269243:E1712Q	E	-	1	0	MYH10	8325402	1.000000	0.71417	0.760000	0.31359	0.009000	0.06853	7.609000	0.82925	2.632000	0.89209	0.655000	0.94253	GAG	MYH10	-	pfam_Myosin_tail	ENSG00000133026		0.612	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	36	0.00	0	C			8384677	8384677	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	19	57.78	26	SNP	1.000	G
MYCBPAP	84073	genome.wustl.edu	37	17	48606547	48606547	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:48606547G>A	ENST00000323776.5	+	18	3013	c.2851G>A	c.(2851-2853)Gag>Aag	p.E951K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E914K	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCTGCACAGTGAGGTGAAGGG	0.542																																						dbGAP											0													32.0	36.0	35.0					17																	48606547		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.2851G>A	17.37:g.48606547G>A	ENSP00000323184:p.Glu951Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E951K	ENST00000323776.5	37	c.2851	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133549	0.56828	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.36157	1.59;1.27	5.26	3.26	0.37387	.	0.062472	0.64402	D	0.000007	T	0.56702	0.2003	M	0.77616	2.38	0.34750	D	0.731694	D	0.89917	1.0	D	0.87578	0.998	T	0.67329	-0.5698	10	0.72032	D	0.01	-29.3239	8.525	0.33300	0.0824:0.1525:0.765:0.0	.	914	Q8TBZ2	MYBPP_HUMAN	K	951;914	ENSP00000323184:E951K;ENSP00000397209:E914K	ENSP00000323184:E951K	E	+	1	0	MYCBPAP	45961546	0.994000	0.37717	0.589000	0.28718	0.364000	0.29643	2.358000	0.44134	0.608000	0.30000	-0.123000	0.14984	GAG	MYCBPAP	-	NULL	ENSG00000136449		0.542	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	15	0.00	0	G	NM_032133		48606547	48606547	+1	no_errors	ENST00000323776	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.855	A
MYH15	22989	genome.wustl.edu	37	3	108163603	108163603	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:108163603C>T	ENST00000273353.3	-	23	2655	c.2599G>A	c.(2599-2601)Gag>Aag	p.E867K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	867						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGTGCACACTCTTCCTTCAGT	0.443																																						dbGAP											0													139.0	133.0	135.0					3																	108163603		1966	4166	6132	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2599G>A	3.37:g.108163603C>T	ENSP00000273353:p.Glu867Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E867K	ENST00000273353.3	37	c.2599	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137034	0.56936	.	.	ENSG00000144821	ENST00000273353	D	0.84146	-1.81	5.27	3.43	0.39272	.	.	.	.	.	D	0.88149	0.6359	L	0.52011	1.625	0.35892	D	0.829752	D	0.76494	0.999	D	0.74348	0.983	D	0.87817	0.2635	9	0.35671	T	0.21	.	10.1876	0.43006	0.1367:0.792:0.0:0.0713	.	867	Q9Y2K3	MYH15_HUMAN	K	867	ENSP00000273353:E867K	ENSP00000273353:E867K	E	-	1	0	MYH15	109646293	1.000000	0.71417	0.009000	0.14445	0.206000	0.24218	1.983000	0.40648	0.670000	0.31165	0.650000	0.86243	GAG	MYH15	-	NULL	ENSG00000144821		0.443	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	60	0.00	0	C	XM_036988		108163603	108163603	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	30	57.14	40	SNP	1.000	T
MYH3	4621	genome.wustl.edu	37	17	10539141	10539141	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:10539141C>G	ENST00000583535.1	-	29	3973	c.3886G>C	c.(3886-3888)Gaa>Caa	p.E1296Q	MYH3_ENST00000226209.7_Missense_Mutation_p.E1296Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1296					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.E1296*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACTATGCTTTCTTTTTCTTCC	0.433																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											179.0	176.0	177.0					17																	10539141		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3886G>C	17.37:g.10539141C>G	ENSP00000464317:p.Glu1296Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E1296Q	ENST00000583535.1	37	c.3886	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.067546	0.93898	.	.	ENSG00000109063	ENST00000226209	D	0.83837	-1.77	5.66	5.66	0.87406	Myosin tail (1);	.	.	.	.	D	0.93539	0.7938	M	0.93150	3.385	0.50632	D	0.999882	D	0.59767	0.986	D	0.66979	0.948	D	0.94155	0.7409	9	0.62326	D	0.03	.	20.0961	0.97843	0.0:1.0:0.0:0.0	.	1296	P11055	MYH3_HUMAN	Q	1296	ENSP00000226209:E1296Q	ENSP00000226209:E1296Q	E	-	1	0	MYH3	10479866	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.814000	0.86154	2.813000	0.96785	0.655000	0.94253	GAA	MYH3	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000109063		0.433	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	76	0.00	0	C	NM_002470		10539141	10539141	-1	no_errors	ENST00000226209	ensembl	human	known	69_37n	missense	45	52.04	51	SNP	1.000	G
MYH7	4625	genome.wustl.edu	37	14	23894032	23894032	+	Missense_Mutation	SNP	C	C	G	rs397516159		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:23894032C>G	ENST00000355349.3	-	22	2787	c.2625G>C	c.(2623-2625)gaG>gaC	p.E875D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	875					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)		ACACCATCTTCTCCTCCAGCT	0.587																																						dbGAP											0													88.0	75.0	79.0					14																	23894032		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.2625G>C	14.37:g.23894032C>G	ENSP00000347507:p.Glu875Asp	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.E875D	ENST00000355349.3	37	c.2625	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190283	0.58017	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83755	-1.76	4.73	3.83	0.44106	.	.	.	.	.	D	0.90625	0.7060	M	0.84326	2.69	0.49130	D	0.999751	D	0.69078	0.997	D	0.79108	0.992	D	0.90639	0.4573	9	0.62326	D	0.03	.	12.5703	0.56332	0.0:0.8536:0.0:0.1464	.	875	P12883	MYH7_HUMAN	D	875	ENSP00000347507:E875D	ENSP00000347507:E875D	E	-	3	2	MYH7	22963872	0.983000	0.35010	1.000000	0.80357	0.954000	0.61252	0.206000	0.17375	0.722000	0.32252	-0.797000	0.03246	GAG	MYH7	-	NULL	ENSG00000092054		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	37	0.00	0	C	NM_000257		23894032	23894032	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	G
MYO18B	84700	genome.wustl.edu	37	22	26423196	26423196	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:26423196T>C	ENST00000407587.2	+	43	7428	c.7259T>C	c.(7258-7260)cTa>cCa	p.L2420P	MYO18B_ENST00000536101.1_Missense_Mutation_p.L2419P|MYO18B_ENST00000335473.7_Missense_Mutation_p.L2419P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2419						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						GAGGAACCTCTAGGCAGTGAC	0.567																																						dbGAP											0													86.0	90.0	88.0					22																	26423196		1975	4154	6129	-	-	-	SO:0001583	missense	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.7259T>C	22.37:g.26423196T>C	ENSP00000386096:p.Leu2420Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L2419P	ENST00000407587.2	37	c.7256		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.337|4.337	0.061998|0.061998	0.08339|0.08339	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.88277|.	-2.34;-2.34;-2.36|.	5.12|5.12	-3.73|-3.73	0.04398|0.04398	.|.	0.525126|.	0.14111|.	N|.	0.340713|.	T|.	0.31544|.	0.0800|.	L|L	0.48362|0.48362	1.52|1.52	0.19300|0.19300	N|N	0.999978|0.999978	B;B;B;B;B|.	0.14805|.	0.003;0.003;0.003;0.011;0.005|.	B;B;B;B;B|.	0.13407|.	0.004;0.003;0.003;0.009;0.006|.	T|.	0.35176|.	-0.9799|.	10|.	0.48119|.	T|.	0.1|.	.|.	2.4244|2.4244	0.04455|0.04455	0.1132:0.2482:0.3833:0.2553|0.1132:0.2482:0.3833:0.2553	.|.	1932;2421;2419;2420;2419|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	P|Q	2419;2419;2420|369	ENSP00000441229:L2419P;ENSP00000334563:L2419P;ENSP00000386096:L2420P|.	ENSP00000334563:L2419P|.	L|X	+|+	2|1	0|0	MYO18B|MYO18B	24753196|24753196	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.284000|0.284000	0.27059|0.27059	-1.051000|-1.051000	0.03507|0.03507	-0.653000|-0.653000	0.05401|0.05401	-0.488000|-0.488000	0.04728|0.04728	CTA|TAG	MYO18B	-	NULL	ENSG00000133454		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	31	0.00	0	T	NM_032608		26423196	26423196	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	0.000	C
MYOF	26509	genome.wustl.edu	37	10	95079720	95079720	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:95079720C>G	ENST00000359263.4	-	49	5506	c.5507G>C	c.(5506-5508)aGa>aCa	p.R1836T	MYOF_ENST00000358334.5_Missense_Mutation_p.R1823T|MYOF_ENST00000371502.4_Missense_Mutation_p.R1826T|MYOF_ENST00000371501.4_Missense_Mutation_p.R1836T	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1836					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						ATCCAAAGATCTGTAATGGAC	0.428																																						dbGAP											0													118.0	104.0	108.0					10																	95079720		1863	4100	5963	-	-	-	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.5507G>C	10.37:g.95079720C>G	ENSP00000352208:p.Arg1836Thr	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.R1836T	ENST00000359263.4	37	c.5507	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868637	0.91587	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	5.78	5.78	0.91487	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	M	0.89414	3.03	0.80722	D	1	P;D	0.89917	0.733;1.0	P;D	0.91635	0.623;0.999	D	0.96473	0.9350	10	0.87932	D	0	-20.1881	20.0016	0.97412	0.0:1.0:0.0:0.0	.	1823;1836	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	T	1823;1836;1836;1826	ENSP00000351094:R1823T;ENSP00000352208:R1836T;ENSP00000360556:R1836T;ENSP00000360557:R1826T	ENSP00000351094:R1823T	R	-	2	0	MYOF	95069710	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.731000	0.93534	0.555000	0.69702	AGA	MYOF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000138119		0.428	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	70	0.00	0	C	NM_013451		95079720	95079720	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	missense	45	54.08	53	SNP	1.000	G
MYOM2	9172	genome.wustl.edu	37	8	2024237	2024237	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:2024237C>T	ENST00000262113.4	+	11	1278	c.1137C>T	c.(1135-1137)gtC>gtT	p.V379V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	379					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACCCGCTGGTCACAGGGGCCC	0.607																																						dbGAP											0													30.0	28.0	29.0					8																	2024237		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1137C>T	8.37:g.2024237C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3Y2	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V379	ENST00000262113.4	37	c.1137	CCDS5957.1	8																																																																																			MYOM2	-	superfamily_Fibronectin_type3	ENSG00000036448		0.607	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	33	0.00	0	C	NM_003970		2024237	2024237	+1	no_errors	ENST00000262113	ensembl	human	known	69_37n	silent	16	27.27	6	SNP	0.223	T
MYT1	4661	genome.wustl.edu	37	20	62839631	62839631	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:62839631C>G	ENST00000328439.1	+	7	1446	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Nonsense_Mutation_p.S361*	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCCCGGAAGTCAACAGTCACT	0.602																																					GBM(59;481 1041 20555 21139 33705)	dbGAP											0													100.0	93.0	95.0					20																	62839631		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1082C>G	20.37:g.62839631C>G	ENSP00000327465:p.Ser361*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Nonsense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.S361*	ENST00000328439.1	37	c.1082	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	c	38	6.765182	0.97821	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	.	.	.	4.46	4.46	0.54185	.	0.134127	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.7629	17.157	0.86794	0.0:1.0:0.0:0.0	.	.	.	.	X	361	.	ENSP00000327465:S361X	S	+	2	0	MYT1	62310075	1.000000	0.71417	0.898000	0.35279	0.105000	0.19272	7.559000	0.82265	2.051000	0.60960	0.450000	0.29827	TCA	MYT1	-	NULL	ENSG00000196132		0.602	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	30	0.00	0	C	NM_004535		62839631	62839631	+1	no_errors	ENST00000536311	ensembl	human	known	69_37n	nonsense	14	33.33	7	SNP	1.000	G
NACAD	23148	genome.wustl.edu	37	7	45124055	45124055	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:45124055G>C	ENST00000490531.2	-	2	1743	c.1724C>G	c.(1723-1725)tCt>tGt	p.S575C		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	575					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CTTTCTGCCAGAGGGGAGGTC	0.552																																						dbGAP											0													57.0	57.0	57.0					7																	45124055		692	1591	2283	-	-	-	SO:0001583	missense	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1724C>G	7.37:g.45124055G>C	ENSP00000420477:p.Ser575Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.S575C	ENST00000490531.2	37	c.1724	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	G	8.242	0.807097	0.16467	.	.	ENSG00000136274	ENST00000490531	T	0.14391	2.51	2.18	1.2	0.21068	.	964.015000	0.00465	U	0.000116	T	0.23054	0.0557	L	0.36672	1.1	0.09310	N	1	D	0.62365	0.991	P	0.56042	0.79	T	0.14587	-1.0467	10	0.49607	T	0.09	-10.1996	7.6778	0.28497	0.0:0.5227:0.4773:0.0	.	575	O15069	NACAD_HUMAN	C	575	ENSP00000420477:S575C	ENSP00000420477:S575C	S	-	2	0	NACAD	45090580	0.001000	0.12720	0.001000	0.08648	0.063000	0.16089	0.502000	0.22594	0.081000	0.16988	0.306000	0.20318	TCT	NACAD	-	NULL	ENSG00000136274		0.552	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	72	0.00	0	G	NM_001146334		45124055	45124055	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	missense	72	29.41	30	SNP	0.000	C
NAGS	162417	genome.wustl.edu	37	17	42085925	42085925	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:42085925C>G	ENST00000293404.3	+	7	1679	c.1561C>G	c.(1561-1563)Ctg>Gtg	p.L521V		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	521	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGCCAAGGGACTGCCAGACTC	0.562																																						dbGAP											0													161.0	151.0	154.0					17																	42085925		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1561C>G	17.37:g.42085925C>G	ENSP00000293404:p.Leu521Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAZ9|Q8IWR4	Missense_Mutation	SNP	pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	p.L521V	ENST00000293404.3	37	c.1561	CCDS11473.1	17	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552922	0.45487	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.96885	-4.16	5.33	4.36	0.52297	GCN5-related N-acetyltransferase (GNAT) domain (1);	0.188454	0.34652	N	0.003790	D	0.93644	0.7970	N	0.24115	0.695	0.30758	N	0.74443	D;D	0.63046	0.992;0.992	P;P	0.57283	0.817;0.817	D	0.89193	0.3552	10	0.14252	T	0.57	-16.9234	7.1714	0.25721	0.1681:0.745:0.0:0.087	.	355;521	Q2NKP2;Q8N159	.;NAGS_HUMAN	V	355;521	ENSP00000293404:L521V	ENSP00000293404:L521V	L	+	1	2	NAGS	39441451	0.981000	0.34729	1.000000	0.80357	0.542000	0.35054	0.307000	0.19296	1.251000	0.43983	-0.355000	0.07637	CTG	NAGS	-	pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	ENSG00000161653		0.562	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGS	HGNC	protein_coding	OTTHUMT00000457660.1	46	0.00	0	C	NM_153006		42085925	42085925	+1	no_errors	ENST00000293404	ensembl	human	known	69_37n	missense	42	19.23	10	SNP	1.000	G
NBAS	51594	genome.wustl.edu	37	2	15432698	15432698	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:15432698C>T	ENST00000281513.5	-	41	5015	c.4990G>A	c.(4990-4992)Gac>Aac	p.D1664N	NBAS_ENST00000441750.1_Missense_Mutation_p.D1544N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1664					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTATACTGGTCATCTGCAGTA	0.458																																						dbGAP											0													83.0	75.0	78.0					2																	15432698		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4990G>A	2.37:g.15432698C>T	ENSP00000281513:p.Asp1664Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.D1664N	ENST00000281513.5	37	c.4990	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.93|12.93	2.084211|2.084211	0.36758|0.36758	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.10288|.	2.89;3.06|.	5.84|5.84	2.49|2.49	0.30216|0.30216	.|.	0.633204|.	0.18270|.	N|.	0.146346|.	T|T	0.32376|0.32376	0.0827|0.0827	L|L	0.31926|0.31926	0.97|0.97	0.09310|0.09310	N|N	0.999992|0.999992	B;B|.	0.27316|.	0.175;0.003|.	B;B|.	0.22386|.	0.039;0.004|.	T|T	0.18777|0.18777	-1.0326|-1.0326	10|5	0.87932|.	D|.	0|.	.|.	6.5308|6.5308	0.22326|0.22326	0.0:0.6278:0.1276:0.2446|0.0:0.6278:0.1276:0.2446	.|.	1544;1664|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	N|I	1544;1664|711	ENSP00000413201:D1544N;ENSP00000281513:D1664N|.	ENSP00000281513:D1664N|.	D|M	-|-	1|3	0|0	NBAS|NBAS	15350149|15350149	0.174000|0.174000	0.23070|0.23070	0.846000|0.846000	0.33378|0.33378	0.971000|0.971000	0.66376|0.66376	0.233000|0.233000	0.17911|0.17911	1.222000|1.222000	0.43521|0.43521	0.563000|0.563000	0.77884|0.77884	GAC|ATG	NBAS	-	NULL	ENSG00000151779		0.458	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	36	0.00	0	C	NM_015909		15432698	15432698	-1	no_errors	ENST00000281513	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	0.243	T
NBEAL2	23218	genome.wustl.edu	37	3	47038822	47038822	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:47038822A>G	ENST00000450053.3	+	19	2902	c.2723A>G	c.(2722-2724)gAg>gGg	p.E908G	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E908G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	908					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGCCCAAAGAGGCTGAAGCA	0.597																																						dbGAP											0													38.0	42.0	41.0					3																	47038822		2062	4213	6275	-	-	-	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2723A>G	3.37:g.47038822A>G	ENSP00000415034:p.Glu908Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E908G	ENST00000450053.3	37	c.2723	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.05|11.05	1.524599|1.524599	0.27299|0.27299	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.58797|.	0.31;0.33|.	5.41|5.41	4.24|4.24	0.50183|0.50183	.|.	0.134693|.	0.49916|.	D|.	0.000128|.	T|T	0.43478|0.43478	0.1249|0.1249	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999991|0.999991	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.23048|0.23048	-1.0199|-1.0199	10|5	0.62326|.	D|.	0.03|.	.|.	10.816|10.816	0.46575|0.46575	0.8583:0.0:0.0:0.1417|0.8583:0.0:0.0:0.1417	.|.	908|.	Q6ZNJ1|.	NBEL2_HUMAN|.	G|G	908|380	ENSP00000292309:E908G;ENSP00000415034:E908G|.	ENSP00000292309:E908G|.	E|R	+|+	2|1	0|2	NBEAL2|NBEAL2	47013826|47013826	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.194000|0.194000	0.23727|0.23727	4.879000|4.879000	0.63100|0.63100	1.053000|1.053000	0.40415|0.40415	-0.496000|-0.496000	0.04628|0.04628	GAG|AGG	NBEAL2	-	NULL	ENSG00000160796		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	22	0.00	0	A	XM_291064		47038822	47038822	+1	no_errors	ENST00000450053	ensembl	human	known	69_37n	missense	21	40.00	14	SNP	0.612	G
NEDD9	4739	genome.wustl.edu	37	6	11185572	11185572	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:11185572G>A	ENST00000379446.5	-	7	2494	c.2328C>T	c.(2326-2328)gtC>gtT	p.V776V	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.V776V	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	776					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGGAGTTCATGACTTTGTTGC	0.552																																						dbGAP											0													218.0	183.0	195.0					6																	11185572		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2328C>T	6.37:g.11185572G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.V776	ENST00000379446.5	37	c.2328	CCDS4520.1	6																																																																																			NEDD9	-	pfam_CAS_DUF3513	ENSG00000111859		0.552	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	76	0.00	0	G	NM_006403		11185572	11185572	-1	no_errors	ENST00000379446	ensembl	human	known	69_37n	silent	68	30.69	31	SNP	0.997	A
NFS1	9054	genome.wustl.edu	37	20	34262465	34262465	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:34262465C>T	ENST00000374092.4	-	9	1093	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V	NFS1_ENST00000374085.1_Silent_p.V281V|NFS1_ENST00000540053.1_Silent_p.V139V|NFS1_ENST00000541387.1_Silent_p.V290V|NFS1_ENST00000397425.1_Silent_p.V281V|RP1-309K20.6_ENST00000541176.2_Silent_p.*1*|NFS1_ENST00000498084.1_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	341					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	CCCCATTCATCACCACATCTG	0.463																																						dbGAP											0													130.0	127.0	128.0					20																	34262465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1023G>A	20.37:g.34262465C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Silent	SNP	pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase	p.V341	ENST00000374092.4	37	c.1023	CCDS13262.1	20																																																																																			NFS1	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase	ENSG00000244005		0.463	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFS1	HGNC	protein_coding	OTTHUMT00000078936.4	71	0.00	0	C	NM_021100		34262465	34262465	-1	no_errors	ENST00000374092	ensembl	human	known	69_37n	silent	73	36.52	42	SNP	0.999	T
NID2	22795	genome.wustl.edu	37	14	52534670	52534670	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:52534670G>C	ENST00000216286.5	-	2	439	c.440C>G	c.(439-441)tCt>tGt	p.S147C	NID2_ENST00000541773.1_Missense_Mutation_p.S94C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	147	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAAGCGCGCAGAGCGCGGGAA	0.701																																						dbGAP											0													36.0	46.0	43.0					14																	52534670		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.440C>G	14.37:g.52534670G>C	ENSP00000216286:p.Ser147Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.S147C	ENST00000216286.5	37	c.440	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969311	0.74246	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	T;T	0.23950	1.88;1.88	5.58	3.71	0.42584	Nidogen, extracellular domain (2);	0.370541	0.33180	N	0.005188	T	0.34454	0.0898	L	0.54323	1.7	0.09310	N	1	D;D;P	0.59357	0.973;0.985;0.845	P;P;B	0.53360	0.724;0.533;0.43	T	0.11348	-1.0591	10	0.52906	T	0.07	.	10.4813	0.44695	0.0693:0.0:0.7967:0.134	.	94;149;147	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	C	147;94;149	ENSP00000216286:S147C;ENSP00000443730:S94C	ENSP00000216286:S147C	S	-	2	0	NID2	51604420	0.901000	0.30685	0.001000	0.08648	0.956000	0.61745	4.307000	0.59123	0.678000	0.31325	0.563000	0.77884	TCT	NID2	-	smart_Nidogen_extracell_dom	ENSG00000087303		0.701	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	10	0.00	0	G			52534670	52534670	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	missense	6	57.14	8	SNP	0.041	C
NINL	22981	genome.wustl.edu	37	20	25434275	25434275	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:25434275C>T	ENST00000278886.6	-	24	4034	c.3961G>A	c.(3961-3963)Gaa>Aaa	p.E1321K	NINL_ENST00000422516.1_Missense_Mutation_p.E972K|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1321					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTGTTCTTTTCAAACTAGAGA	0.562																																						dbGAP											0													64.0	55.0	58.0					20																	25434275		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3961G>A	20.37:g.25434275C>T	ENSP00000278886:p.Glu1321Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E1321K	ENST00000278886.6	37	c.3961	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387043	0.61956	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.33216	1.42;1.42	4.89	3.95	0.45737	.	0.488453	0.19473	N	0.113411	T	0.44265	0.1285	M	0.68317	2.08	0.21933	N	0.999464	B;P;D	0.56035	0.379;0.86;0.974	B;P;P	0.53861	0.111;0.504;0.736	T	0.30238	-0.9985	10	0.49607	T	0.09	-19.8724	12.1665	0.54133	0.0:0.9161:0.0:0.0838	.	972;1321;112	Q9Y2I6-2;Q9Y2I6;Q9HAD5	.;NINL_HUMAN;.	K	1321;972	ENSP00000278886:E1321K;ENSP00000410431:E972K	ENSP00000278886:E1321K	E	-	1	0	NINL	25382275	0.990000	0.36364	0.993000	0.49108	0.407000	0.30961	2.376000	0.44292	1.304000	0.44892	0.655000	0.94253	GAA	NINL	-	NULL	ENSG00000101004		0.562	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	38	0.00	0	C	NM_025176		25434275	25434275	-1	no_errors	ENST00000278886	ensembl	human	known	69_37n	missense	52	11.67	7	SNP	0.987	T
NIPBL	25836	genome.wustl.edu	37	5	36995903	36995903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:36995903G>T	ENST00000282516.8	+	11	3800	c.3301G>T	c.(3301-3303)Gaa>Taa	p.E1101*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E1101*|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1101					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAAGCTTTTGAATGTAAGTA	0.328																																						dbGAP											0													79.0	76.0	77.0					5																	36995903		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3301G>T	5.37:g.36995903G>T	ENSP00000282516:p.Glu1101*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E1101*	ENST00000282516.8	37	c.3301	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	45	12.023291	0.99628	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.43	5.43	0.79202	.	0.138035	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.2325	0.93846	0.0:0.0:1.0:0.0	.	.	.	.	X	1101	.	ENSP00000282516:E1101X	E	+	1	0	NIPBL	37031660	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.700000	0.91322	2.551000	0.86045	0.591000	0.81541	GAA	NIPBL	-	NULL	ENSG00000164190		0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	27	0.00	0	G	NM_015384		36995903	36995903	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	nonsense	44	25.42	15	SNP	1.000	T
NLGN3	54413	genome.wustl.edu	37	X	70389243	70389243	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:70389243C>G	ENST00000358741.3	+	8	2146	c.1843C>G	c.(1843-1845)Cat>Gat	p.H615D	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.H575D|NLGN3_ENST00000374051.3_Missense_Mutation_p.H595D	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	615					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)					GGTCCGAGATCATTACCGGGC	0.537																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0													56.0	45.0	49.0					X																	70389243		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.1843C>G	X.37:g.70389243C>G	ENSP00000351591:p.His615Asp	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.H615D	ENST00000358741.3	37	c.1843	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445673	0.43429	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000358741	T;T;T	0.57273	0.41;0.41;0.41	4.96	4.96	0.65561	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	N	0.17723	0.515	0.80722	D	1	D;P;D	0.56035	0.974;0.9;0.962	D;P;P	0.62955	0.909;0.793;0.676	T	0.62982	-0.6738	10	0.56958	D	0.05	.	17.4934	0.87711	0.0:1.0:0.0:0.0	.	575;615;595	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	D	575;595;615	ENSP00000445298:H575D;ENSP00000363163:H595D;ENSP00000351591:H615D	ENSP00000351591:H615D	H	+	1	0	NLGN3	70305968	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.784000	0.62411	2.315000	0.78130	0.431000	0.28591	CAT	NLGN3	-	pfam_CarbesteraseB,prints_Neuroligin	ENSG00000196338		0.537	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	26	0.00	0	C	NM_018977		70389243	70389243	+1	no_errors	ENST00000358741	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	1.000	G
NLRP5	126206	genome.wustl.edu	37	19	56538906	56538906	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:56538906A>G	ENST00000390649.3	+	7	1307	c.1307A>G	c.(1306-1308)cAa>cGa	p.Q436R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	436	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCGGGGAACAAAGAATCCAC	0.547																																						dbGAP											0													42.0	46.0	45.0					19																	56538906		2056	4211	6267	-	-	-	SO:0001583	missense	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1307A>G	19.37:g.56538906A>G	ENSP00000375063:p.Gln436Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTY4|Q86W29	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Q436R	ENST00000390649.3	37	c.1307	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	A	1.792	-0.479347	0.04383	.	.	ENSG00000171487	ENST00000390649	D	0.81821	-1.54	3.07	-6.15	0.02105	.	1.780070	0.03454	N	0.211188	T	0.58708	0.2141	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.51934	-0.8642	10	0.12430	T	0.62	.	7.7941	0.29138	0.158:0.0:0.7004:0.1417	.	436	P59047	NALP5_HUMAN	R	436	ENSP00000375063:Q436R	ENSP00000375063:Q436R	Q	+	2	0	NLRP5	61230718	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.076000	0.03420	-1.362000	0.02166	-0.993000	0.02533	CAA	NLRP5	-	NULL	ENSG00000171487		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	22	0.00	0	A	NM_153447		56538906	56538906	+1	no_errors	ENST00000390649	ensembl	human	known	69_37n	missense	18	43.75	14	SNP	0.000	G
NLRP6	171389	genome.wustl.edu	37	11	284398	284398	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:284398C>T	ENST00000312165.5	+	6	2370	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V	RP11-326C3.2_ENST00000533924.1_RNA|NLRP6_ENST00000534750.1_Silent_p.V789V	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	790					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGCAGACGGTCAGGTGAGGCC	0.697																																						dbGAP											0													30.0	32.0	31.0					11																	284398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2370C>T	11.37:g.284398C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9F3|E9PJZ8	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V790	ENST00000312165.5	37	c.2370	CCDS7693.1	11																																																																																			NLRP6	-	NULL	ENSG00000174885		0.697	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	11	0.00	0	C	NM_138329		284398	284398	+1	no_errors	ENST00000312165	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	0.937	T
NOMO1	23420	genome.wustl.edu	37	16	14968961	14968961	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:14968961A>G	ENST00000287667.7	+	19	2294	c.2123A>G	c.(2122-2124)gAg>gGg	p.E708G		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	708						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTGCGGAGGGAGCAGCAGCTG	0.577																																						dbGAP											0													57.0	64.0	62.0					16																	14968961		2195	4297	6492	-	-	-	SO:0001583	missense	0			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2123A>G	16.37:g.14968961A>G	ENSP00000287667:p.Glu708Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.E708G	ENST00000287667.7	37	c.2123	CCDS10556.1	16	.	.	.	.	.	.	.	.	.	.	.	17.33	3.362258	0.61403	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.05081	3.5	2.86	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	L	0.60455	1.87	0.80722	D	1	D	0.56521	0.976	P	0.52343	0.696	T	0.02533	-1.1145	10	0.48119	T	0.1	-30.0799	9.173	0.37093	1.0:0.0:0.0:0.0	.	708	Q15155	NOMO1_HUMAN	G	708;708;541	ENSP00000287667:E708G	ENSP00000287667:E708G	E	+	2	0	NOMO1	14876462	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	8.056000	0.89455	1.301000	0.44836	0.155000	0.16302	GAG	NOMO1	-	NULL	ENSG00000103512		0.577	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO1	HGNC	protein_coding	OTTHUMT00000207065.1	105	0.00	0	A			14968961	14968961	+1	no_errors	ENST00000287667	ensembl	human	known	69_37n	missense	117	19.86	29	SNP	1.000	G
NOP58	51602	genome.wustl.edu	37	2	203149118	203149118	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:203149118G>A	ENST00000264279.5	+	5	574	c.348G>A	c.(346-348)atG>atA	p.M116I	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	116					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						ATGAACTTATGAGAGGAATTC	0.373																																						dbGAP											0													108.0	102.0	104.0					2																	203149118		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.348G>A	2.37:g.203149118G>A	ENSP00000264279:p.Met116Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.M116I	ENST00000264279.5	37	c.348	CCDS2353.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022263	0.75275	.	.	ENSG00000055044	ENST00000264279	T	0.60299	0.2	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	L	0.52905	1.665	0.80722	D	1	B;B	0.14438	0.01;0.002	B;B	0.22753	0.041;0.008	T	0.50939	-0.8768	10	0.29301	T	0.29	-15.8862	19.5244	0.95197	0.0:0.0:1.0:0.0	.	116;116	B4DUY3;Q9Y2X3	.;NOP58_HUMAN	I	116	ENSP00000264279:M116I	ENSP00000264279:M116I	M	+	3	0	NOP58	202857363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.683000	0.91414	0.655000	0.94253	ATG	NOP58	-	NULL	ENSG00000055044		0.373	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	73	0.00	0	G	NM_015934		203149118	203149118	+1	no_errors	ENST00000264279	ensembl	human	known	69_37n	missense	83	27.19	31	SNP	1.000	A
NOTCH3	4854	genome.wustl.edu	37	19	15291538	15291538	+	Silent	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:15291538G>T	ENST00000263388.2	-	19	3171	c.3096C>A	c.(3094-3096)ctC>ctA	p.L1032L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1032	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGATGTCACAGAGGCGTCCGC	0.662																																						dbGAP											0													29.0	27.0	27.0					19																	15291538		2190	4283	6473	-	-	-	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3096C>A	19.37:g.15291538G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.L1032	ENST00000263388.2	37	c.3096	CCDS12326.1	19																																																																																			NOTCH3	-	pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom	ENSG00000074181		0.662	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	16	0.00	0	G	NM_000435		15291538	15291538	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	silent	8	42.86	6	SNP	0.966	T
NPAS3	64067	genome.wustl.edu	37	14	33684482	33684482	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:33684482C>T	ENST00000356141.4	+	3	235	c.235C>T	c.(235-237)Cct>Tct	p.P79S	NPAS3_ENST00000341321.4_Missense_Mutation_p.P79S|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.P86S|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.P49S|NPAS3_ENST00000346562.2_Missense_Mutation_p.P49S|NPAS3_ENST00000548645.1_Missense_Mutation_p.P49S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	79	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.			PLP -> LS (in Ref. 4; CAB45154). {ECO:0000305}.	locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CAAGTTGTTGCCTCTTCCTGC	0.478																																						dbGAP											0													104.0	103.0	103.0					14																	33684482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.235C>T	14.37:g.33684482C>T	ENSP00000348460:p.Pro79Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd	p.P79S	ENST00000356141.4	37	c.235	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897839	0.91962	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.99388	1.08;1.71;1.72;-5.81;0.98;0.9;-0.08	5.83	5.83	0.93111	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000003	D	0.99641	0.9868	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.985;0.994;0.994	D	0.97924	1.0316	10	0.87932	D	0	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	49;79;49;49	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	S	56;86;49;79;49;79;49	ENSP00000448373:P56S;ENSP00000450392:P86S;ENSP00000319610:P49S;ENSP00000344158:P79S;ENSP00000448916:P49S;ENSP00000348460:P79S;ENSP00000350446:P49S	ENSP00000344158:P79S	P	+	1	0	NPAS3	32754233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.757000	0.94681	0.563000	0.77884	CCT	NPAS3	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000151322		0.478	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	44	0.00	0	C			33684482	33684482	+1	no_errors	ENST00000356141	ensembl	human	known	69_37n	missense	34	25.53	12	SNP	1.000	T
NR1H4	9971	genome.wustl.edu	37	12	100955671	100955671	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:100955671G>A	ENST00000551379.1	+	8	1145	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	NR1H4_ENST00000392986.3_Missense_Mutation_p.D363N|NR1H4_ENST00000188403.7_Missense_Mutation_p.D369N|NR1H4_ENST00000548884.1_Missense_Mutation_p.D359N|NR1H4_ENST00000549996.1_Missense_Mutation_p.D312N			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	373	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|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 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)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AGGTATCTCTGATGAATATAT	0.323																																						dbGAP											0													72.0	73.0	73.0					12																	100955671		2203	4297	6500	-	-	-	SO:0001583	missense	0			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1117G>A	12.37:g.100955671G>A	ENSP00000447149:p.Asp373Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	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,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.D373N	ENST00000551379.1	37	c.1117	CCDS55876.1	12	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503392	0.64298	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.75	5.75	0.90469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.096419	0.64402	D	0.000001	D	0.91284	0.7252	L	0.28115	0.83	0.58432	D	0.999996	B;B;B;B;B	0.26147	0.143;0.051;0.071;0.088;0.0	B;B;B;B;B	0.24974	0.039;0.057;0.028;0.043;0.007	D	0.87833	0.2646	10	0.27785	T	0.31	.	15.4381	0.75162	0.0:0.1382:0.8618:0.0	.	312;373;369;363;359	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	N	359;363;312;373;369	ENSP00000448506:D359N;ENSP00000376712:D363N;ENSP00000448978:D312N;ENSP00000447149:D373N;ENSP00000188403:D369N	ENSP00000188403:D369N	D	+	1	0	NR1H4	99479802	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.762000	0.68809	2.708000	0.92522	0.650000	0.86243	GAT	NR1H4	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000012504		0.323	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1	44	0.00	0	G	NM_005123		100955671	100955671	+1	no_errors	ENST00000551379	ensembl	human	known	69_37n	missense	66	12.82	10	SNP	1.000	A
NRBP1	29959	genome.wustl.edu	37	2	27664625	27664625	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:27664625C>T	ENST00000233557.3	+	19	2386	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379852.3_Silent_p.F518F|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379863.3_Silent_p.F526F			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	518					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGAACAAGTTCAATTTTGCCA	0.562																																						dbGAP											0													173.0	175.0	174.0					2																	27664625		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1554C>T	2.37:g.27664625C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV40|D6W558|Q53FZ5|Q96SU3	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.F518	ENST00000233557.3	37	c.1554	CCDS1753.1	2																																																																																			NRBP1	-	NULL	ENSG00000115216		0.562	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	49	0.00	0	C	NM_013392		27664625	27664625	+1	no_errors	ENST00000233557	ensembl	human	known	69_37n	silent	62	43.75	49	SNP	1.000	T
OSBPL9	114883	genome.wustl.edu	37	1	52255313	52255313	+	IGR	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:52255313G>A	ENST00000428468.1	+	0	2893				NRD1_ENST00000354831.7_Missense_Mutation_p.S1130L|NRD1_ENST00000352171.7_Missense_Mutation_p.S1062L|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.S998L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TTTTGAGAATGACTTCAGTGC	0.443																																						dbGAP											0													108.0	102.0	104.0					1																	52255313		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		1.37:g.52255313G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.S1130L	ENST00000428468.1	37	c.3389	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189461	0.38707	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	T;T;T	0.32753	1.44;1.45;1.45	4.98	4.98	0.66077	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.421257	0.27008	N	0.021387	T	0.26774	0.0655	L	0.28400	0.85	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.03354	-1.1045	10	0.45353	T	0.12	-7.3216	18.4437	0.90676	0.0:0.0:1.0:0.0	.	1061;1130	O43847;B1AKJ5	NRDC_HUMAN;.	L	1062;1130;998;464;1062	ENSP00000262679:S1062L;ENSP00000346890:S1130L;ENSP00000444416:S998L	ENSP00000262679:S1062L	S	-	2	0	NRD1	52027901	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	1.858000	0.39408	2.615000	0.88500	0.650000	0.86243	TCA	NRD1	-	superfamily_Metalloenz_metal-bd	ENSG00000078618		0.443	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000022584.4	35	0.00	0	G			52255313	52255313	-1	no_errors	ENST00000354831	ensembl	human	known	69_37n	missense	61	20.78	16	SNP	0.988	A
NSUN6	221078	genome.wustl.edu	37	10	18903468	18903468	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:18903468C>G	ENST00000377304.4	-	5	914	c.496G>C	c.(496-498)Gat>Cat	p.D166H		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	166	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TTTGTTCCATCAAATTCTTTG	0.348																																						dbGAP											0													81.0	77.0	78.0					10																	18903468		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.496G>C	10.37:g.18903468C>G	ENSP00000366519:p.Asp166His	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ54	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,prints_RCMT,pfscan_PUA	p.D166H	ENST00000377304.4	37	c.496	CCDS7130.1	10	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200657	0.38905	.	.	ENSG00000241058	ENST00000377304	D	0.96011	-3.88	5.09	4.17	0.49024	Pseudouridine synthase/archaeosine transglycosylase (1);PUA-like domain (1);	0.348037	0.32819	N	0.005608	D	0.93631	0.7966	M	0.72353	2.195	0.33247	D	0.557943	P	0.40875	0.731	B	0.40329	0.326	D	0.95404	0.8492	10	0.72032	D	0.01	.	7.9774	0.30164	0.0:0.6109:0.2554:0.1336	.	166	Q8TEA1	NSUN6_HUMAN	H	166	ENSP00000366519:D166H	ENSP00000366519:D166H	D	-	1	0	NSUN6	18943474	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.061000	0.30542	2.523000	0.85059	0.655000	0.94253	GAT	NSUN6	-	pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA	ENSG00000241058		0.348	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1	38	0.00	0	C	NM_182543		18903468	18903468	-1	no_errors	ENST00000377304	ensembl	human	known	69_37n	missense	33	51.43	36	SNP	0.997	G
NUGGC	389643	genome.wustl.edu	37	8	27922138	27922138	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:27922138C>T	ENST00000413272.2	-	7	964	c.822G>A	c.(820-822)gtG>gtA	p.V274V	NUGGC_ENST00000341513.6_Silent_p.V274V	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	274					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TGGGAAGTGTCACTTCCACAT	0.557																																						dbGAP											0													88.0	91.0	90.0					8																	27922138		2086	4222	6308	-	-	-	SO:0001819	synonymous_variant	0			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.822G>A	8.37:g.27922138C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZP73	Silent	SNP	pfam_Dynamin_GTPase	p.V274	ENST00000413272.2	37	c.822	CCDS47833.1	8																																																																																			NUGGC	-	pfam_Dynamin_GTPase	ENSG00000189233		0.557	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	38	0.00	0	C	NM_001010906		27922138	27922138	-1	no_errors	ENST00000341513	ensembl	human	known	69_37n	silent	40	25.93	14	SNP	1.000	T
NUMA1	4926	genome.wustl.edu	37	11	71724696	71724696	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:71724696C>T	ENST00000393695.3	-	15	4184	c.3853G>A	c.(3853-3855)Gaa>Aaa	p.E1285K	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1285K	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						GAGCTGCGTTCTGCAGCTCTG	0.637			T	RARA	APL																																	dbGAP		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													34.0	36.0	36.0					11																	71724696		2200	4293	6493	-	-	-	SO:0001583	missense	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.3853G>A	11.37:g.71724696C>T	ENSP00000377298:p.Glu1285Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin	p.E1285K	ENST00000393695.3	37	c.3853	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	C	14.76	2.632788	0.47049	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.17054	2.3;2.3	5.14	5.14	0.70334	.	0.000000	0.56097	D	0.000029	T	0.39517	0.1081	L	0.53249	1.67	0.40421	D	0.979846	P;D;D;B	0.89917	0.592;1.0;1.0;0.286	B;D;D;B	0.87578	0.224;0.998;0.998;0.224	T	0.11867	-1.0570	10	0.59425	D	0.04	.	18.3987	0.90509	0.0:1.0:0.0:0.0	.	1291;769;1285;1285	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	K	1285;1285;848;254	ENSP00000351851:E1285K;ENSP00000377298:E1285K	ENSP00000351851:E1285K	E	-	1	0	NUMA1	71402344	0.997000	0.39634	0.889000	0.34880	0.708000	0.40852	4.024000	0.57218	2.665000	0.90641	0.655000	0.94253	GAA	NUMA1	-	NULL	ENSG00000137497		0.637	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	9	0.00	0	C			71724696	71724696	-1	no_errors	ENST00000393695	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	0.991	T
NUSAP1	51203	genome.wustl.edu	37	15	41625187	41625187	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:41625187C>G	ENST00000559596.1	+	1	119	c.32C>G	c.(31-33)tCc>tGc	p.S11C	NUSAP1_ENST00000450592.2_Missense_Mutation_p.S11C|OIP5_ENST00000220514.3_5'Flank|NUSAP1_ENST00000414849.2_Missense_Mutation_p.S11C|NUSAP1_ENST00000450318.1_Missense_Mutation_p.S11C|NUSAP1_ENST00000560177.1_Missense_Mutation_p.S11C|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560747.1_Missense_Mutation_p.S11C|NUSAP1_ENST00000260359.6_Missense_Mutation_p.S11C			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	11					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GAGCTGGACTCCCTCAAGTAC	0.607																																						dbGAP											0													36.0	38.0	37.0					15																	41625187		1915	4130	6045	-	-	-	SO:0001583	missense	0			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.32C>G	15.37:g.41625187C>G	ENSP00000453403:p.Ser11Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	NULL	p.S11C	ENST00000559596.1	37	c.32	CCDS45234.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.067269	0.93898	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	6.03	6.03	0.97812	.	0.273573	0.43110	D	0.000613	T	0.63379	0.2506	M	0.78916	2.43	0.45762	D	0.998659	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	0.97110	0.999;0.999;1.0;0.999;1.0;1.0;1.0	T	0.64626	-0.6363	10	0.72032	D	0.01	.	17.4736	0.87653	0.0:1.0:0.0:0.0	.	11;11;11;11;11;11;11	E7ERR5;E9PB35;Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;.;.;NUSAP_HUMAN;.	C	11	ENSP00000260359:S11C;ENSP00000400746:S11C;ENSP00000401351:S11C;ENSP00000401014:S11C	ENSP00000260359:S11C	S	+	2	0	NUSAP1	39412479	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.293000	0.59037	2.861000	0.98227	0.655000	0.94253	TCC	NUSAP1	-	NULL	ENSG00000137804		0.607	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000419427.1	28	0.00	0	C	NM_016359		41625187	41625187	+1	no_errors	ENST00000559596	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	G
OFD1	8481	genome.wustl.edu	37	X	13764545	13764545	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:13764545G>C	ENST00000340096.6	+	7	952	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	OFD1_ENST00000380567.1_Missense_Mutation_p.E69Q|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Missense_Mutation_p.E209Q|OFD1_ENST00000380550.3_Missense_Mutation_p.E209Q	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	209					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATAGAAGAGCAACTTCG	0.353																																						dbGAP											0													62.0	58.0	59.0					X																	13764545		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.625G>C	X.37:g.13764545G>C	ENSP00000344314:p.Glu209Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.E209Q	ENST00000340096.6	37	c.625	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	G	7.508	0.654166	0.14580	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D;D	0.96011	-3.83;-3.64;-3.88;-1.73	5.65	0.0591	0.14331	.	0.686860	0.14949	N	0.289040	D	0.83436	0.5254	N	0.00926	-1.1	0.25357	N	0.988813	B;B;B;B	0.13145	0.007;0.003;0.003;0.007	B;B;B;B	0.17722	0.019;0.013;0.003;0.019	T	0.72475	-0.4282	10	0.22706	T	0.39	-0.0037	12.0646	0.53580	0.1986:0.2688:0.5326:0.0	.	209;209;69;209	A8K2T9;O75665-3;A6NF31;O75665	.;.;.;OFD1_HUMAN	Q	209;209;209;69;72	ENSP00000369923:E209Q;ENSP00000381432:E209Q;ENSP00000344314:E209Q;ENSP00000369941:E69Q	ENSP00000344314:E209Q	E	+	1	0	OFD1	13674466	0.998000	0.40836	0.229000	0.23960	0.988000	0.76386	0.783000	0.26802	-0.144000	0.11314	-0.217000	0.12591	GAG	OFD1	-	NULL	ENSG00000046651		0.353	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	35	0.00	0	G	NM_003611		13764545	13764545	+1	no_errors	ENST00000340096	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	0.644	C
OGDHL	55753	genome.wustl.edu	37	10	50966591	50966591	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:50966591C>T	ENST00000374103.4	-	2	133	c.48G>A	c.(46-48)gcG>gcA	p.A16A	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Silent_p.A16A	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	16					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCAGGAGCCTCGCAGCCTGTA	0.627																																						dbGAP											0													42.0	42.0	42.0					10																	50966591		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.48G>A	10.37:g.50966591C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.A16	ENST00000374103.4	37	c.48	CCDS7234.1	10																																																																																			OGDHL	-	NULL	ENSG00000197444		0.627	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	10	0.00	0	C	NM_018245		50966591	50966591	-1	no_errors	ENST00000374103	ensembl	human	known	69_37n	silent	4	60.00	6	SNP	0.000	T
OLR1	4973	genome.wustl.edu	37	12	10313515	10313515	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:10313515G>T	ENST00000309539.3	-	4	494	c.434C>A	c.(433-435)cCg>cAg	p.P145Q	OLR1_ENST00000432556.2_Intron|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_Intron|OLR1_ENST00000545927.1_Missense_Mutation_p.P145Q	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	145	Neck.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCAGTCTTGCGGACAAGGAGC	0.433																																						dbGAP											0													128.0	124.0	125.0					12																	10313515		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"""C-type lectin domain containing"""	8133	protein-coding gene	gene with protein product		602601	"""oxidised low density lipoprotein (lectin-like) receptor 1"""			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.434C>A	12.37:g.10313515G>T	ENSP00000309124:p.Pro145Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.P145Q	ENST00000309539.3	37	c.434	CCDS8618.1	12	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630567	0.67015	.	.	ENSG00000173391	ENST00000309539;ENST00000545927;ENST00000539518;ENST00000538745;ENST00000339968;ENST00000538873;ENST00000543414	T;T;T;T;T;T;T	0.75589	1.69;1.69;-0.95;-0.95;-0.95;1.69;1.69	4.89	4.89	0.63831	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.64402	D	0.000016	D	0.86834	0.6028	M	0.88842	2.985	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	D	0.88410	0.3021	10	0.56958	D	0.05	.	14.2875	0.66256	0.0:0.0:1.0:0.0	.	145	P78380	OLR1_HUMAN	Q	145;145;92;41;41;41;92	ENSP00000309124:P145Q;ENSP00000439251:P145Q;ENSP00000442389:P92Q;ENSP00000438925:P41Q;ENSP00000340572:P41Q;ENSP00000438744:P41Q;ENSP00000444068:P92Q	ENSP00000309124:P145Q	P	-	2	0	OLR1	10204782	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.438000	0.59961	2.647000	0.89833	0.591000	0.81541	CCG	OLR1	-	pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII	ENSG00000173391		0.433	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLR1	HGNC	protein_coding	OTTHUMT00000400091.1	32	0.00	0	G	NM_002543		10313515	10313515	-1	no_errors	ENST00000309539	ensembl	human	known	69_37n	missense	26	27.03	10	SNP	1.000	T
OPA1	4976	genome.wustl.edu	37	3	193374947	193374947	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:193374947G>C	ENST00000392438.3	+	21	2326	c.2092G>C	c.(2092-2094)Gat>Cat	p.D698H	OPA1_ENST00000361510.2_Missense_Mutation_p.D753H|OPA1_ENST00000361908.3_Missense_Mutation_p.D735H|OPA1_ENST00000361150.2_Missense_Mutation_p.D699H|OPA1_ENST00000361715.2_Missense_Mutation_p.D717H|OPA1_ENST00000361828.2_Missense_Mutation_p.D716H	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	698					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGACATATTTGATAAACTTAA	0.378																																						dbGAP											0													94.0	98.0	97.0					3																	193374947		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2092G>C	3.37:g.193374947G>C	ENSP00000376233:p.Asp698His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.D753H	ENST00000392438.3	37	c.2257	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.087839	0.94100	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95885	-3.44;-3.4;-3.39;-3.42;-3.44;-3.84	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.97670	0.9236	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.74674	0.984;0.972;0.984;0.984;0.98;0.984;0.956;0.984	D	0.98078	1.0402	10	0.87932	D	0	-23.7085	18.996	0.92813	0.0:0.0:1.0:0.0	.	662;698;680;699;716;735;717;753	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	H	735;698;753;717;716;699	ENSP00000354681:D735H;ENSP00000376233:D698H;ENSP00000355324:D753H;ENSP00000355311:D717H;ENSP00000354429:D716H;ENSP00000354781:D699H	ENSP00000354781:D699H	D	+	1	0	OPA1	194857641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.722000	0.93159	0.655000	0.94253	GAT	OPA1	-	NULL	ENSG00000198836		0.378	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	43	0.00	0	G	NM_130837		193374947	193374947	+1	no_errors	ENST00000361510	ensembl	human	known	69_37n	missense	64	30.43	28	SNP	1.000	C
OR10A7	121364	genome.wustl.edu	37	12	55615100	55615100	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:55615100G>A	ENST00000326258.1	+	1	292	c.292G>A	c.(292-294)Ggt>Agt	p.G98S		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	98						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)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGTGGGCTGTGGTACCCAGAT	0.423																																						dbGAP											0													196.0	189.0	191.0					12																	55615100		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.292G>A	12.37:g.55615100G>A	ENSP00000326718:p.Gly98Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFD5|Q96R19	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.G98S	ENST00000326258.1	37	c.292	CCDS31815.1	12	.	.	.	.	.	.	.	.	.	.	g	12.23	1.874527	0.33069	.	.	ENSG00000179919	ENST00000326258	T	0.12774	2.65	3.55	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.186863	0.25490	N	0.030320	T	0.07143	0.0181	N	0.21448	0.665	0.19300	N	0.99997	B	0.27853	0.191	B	0.21360	0.034	T	0.26710	-1.0095	10	0.51188	T	0.08	.	3.7269	0.08478	0.0925:0.1666:0.5686:0.1723	.	98	Q8NGE5	O10A7_HUMAN	S	98	ENSP00000326718:G98S	ENSP00000326718:G98S	G	+	1	0	OR10A7	53901367	0.000000	0.05858	0.853000	0.33588	0.991000	0.79684	-2.128000	0.01314	0.284000	0.22305	0.637000	0.83480	GGT	OR10A7	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000179919		0.423	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A7	HGNC	protein_coding	OTTHUMT00000406308.1	58	0.00	0	G			55615100	55615100	+1	no_errors	ENST00000326258	ensembl	human	known	69_37n	missense	76	20.62	20	SNP	0.265	A
OR10J3	441911	genome.wustl.edu	37	1	159283665	159283665	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:159283665T>G	ENST00000332217.5	-	1	784	c.785A>C	c.(784-786)aAg>aCg	p.K262T		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGACTTAGGCTTCAGGTAGAT	0.532																																						dbGAP											0													124.0	109.0	114.0					1																	159283665		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.785A>C	1.37:g.159283665T>G	ENSP00000331789:p.Lys262Thr	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.K262T	ENST00000332217.5	37	c.785	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622614	0.46840	.	.	ENSG00000196266	ENST00000332217	T	0.37058	1.22	5.34	5.34	0.76211	.	0.000000	0.34291	U	0.004081	T	0.38558	0.1045	L	0.50993	1.605	0.33899	D	0.638249	D	0.55605	0.972	D	0.68192	0.956	T	0.49331	-0.8951	10	0.87932	D	0	.	7.8063	0.29204	0.0:0.0901:0.0:0.9099	.	262	Q5JRS4	O10J3_HUMAN	T	262	ENSP00000331789:K262T	ENSP00000331789:K262T	K	-	2	0	OR10J3	157550289	0.000000	0.05858	0.999000	0.59377	0.863000	0.49368	-0.115000	0.10741	2.232000	0.73038	0.533000	0.62120	AAG	OR10J3	-	pfam_7TM_GPCR_Rhodpsn	ENSG00000196266		0.532	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	48	0.00	0	T			159283665	159283665	-1	no_errors	ENST00000332217	ensembl	human	known	69_37n	missense	78	15.79	15	SNP	1.000	G
OR13C3	138803	genome.wustl.edu	37	9	107298627	107298627	+	Silent	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:107298627G>T	ENST00000374781.2	-	1	510	c.468C>A	c.(466-468)atC>atA	p.I156I		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GTGGGTTGCAGATGGCCACAT	0.488																																					GBM(86;1248 1274 14222 15028 46219)	dbGAP											0													209.0	183.0	192.0					9																	107298627		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.468C>A	9.37:g.107298627G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVG1|Q6IF52	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I156	ENST00000374781.2	37	c.468	CCDS35089.1	9																																																																																			OR13C3	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204246		0.488	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	42	0.00	0	G			107298627	107298627	-1	no_errors	ENST00000374781	ensembl	human	known	69_37n	silent	72	28.71	29	SNP	1.000	T
OR13H1	347468	genome.wustl.edu	37	X	130678345	130678345	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:130678345C>G	ENST00000338616.3	+	1	396	c.298C>G	c.(298-300)Caa>Gaa	p.Q100E		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					ATGTTTGGCTCAAACGAGTGT	0.517																																						dbGAP											0													154.0	121.0	132.0					X																	130678345		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.298C>G	X.37:g.130678345C>G	ENSP00000340748:p.Gln100Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q100E	ENST00000338616.3	37	c.298	CCDS35396.1	X	.	.	.	.	.	.	.	.	.	.	C	5.252	0.231889	0.09969	.	.	ENSG00000171054	ENST00000338616	T	0.01745	4.66	4.86	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001747	T	0.04770	0.0129	H	0.95004	3.61	0.09310	N	1	P	0.48230	0.907	B	0.34346	0.18	T	0.38542	-0.9656	10	0.87932	D	0	.	10.8469	0.46748	0.1949:0.8051:0.0:0.0	.	100	Q8NG92	O13H1_HUMAN	E	100	ENSP00000340748:Q100E	ENSP00000340748:Q100E	Q	+	1	0	OR13H1	130506026	0.966000	0.33281	0.207000	0.23584	0.002000	0.02628	2.237000	0.43061	0.987000	0.38709	0.589000	0.80489	CAA	OR13H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000171054		0.517	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	HGNC	protein_coding	OTTHUMT00000058297.1	79	0.00	0	C			130678345	130678345	+1	no_errors	ENST00000338616	ensembl	human	known	69_37n	missense	138	12.10	19	SNP	0.129	G
OR4S2	219431	genome.wustl.edu	37	11	55418639	55418639	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:55418639A>G	ENST00000312422.2	+	1	260	c.260A>G	c.(259-261)gAc>gGc	p.D87G		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	87						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(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTAGCAAAGGACAAAACCATC	0.418																																						dbGAP											0													248.0	202.0	218.0					11																	55418639		2184	4045	6229	-	-	-	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.260A>G	11.37:g.55418639A>G	ENSP00000310337:p.Asp87Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF72	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D87G	ENST00000312422.2	37	c.260	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493231	0.26774	.	.	ENSG00000174982	ENST00000312422	T	0.01323	5.01	5.36	-5.42	0.02640	GPCR, rhodopsin-like superfamily (1);	1.202430	0.05983	N	0.644527	T	0.00967	0.0032	N	0.10618	0.005	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.49934	-0.8886	10	0.49607	T	0.09	.	8.7293	0.34489	0.2277:0.3108:0.4615:0.0	.	87	Q8NH73	OR4S2_HUMAN	G	87	ENSP00000310337:D87G	ENSP00000310337:D87G	D	+	2	0	OR4S2	55175215	0.000000	0.05858	0.000000	0.03702	0.740000	0.42216	-1.070000	0.03440	-0.813000	0.04357	0.448000	0.29417	GAC	OR4S2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000174982		0.418	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	86	0.00	0	A	NM_001004059		55418639	55418639	+1	no_errors	ENST00000312422	ensembl	human	known	69_37n	missense	62	42.34	47	SNP	0.000	G
OR1S2	219958	genome.wustl.edu	37	11	57971339	57971339	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:57971339G>C	ENST00000302592.6	-	1	314	c.315C>G	c.(313-315)atC>atG	p.I105M		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TCTCATAAGAGATGGATTGGC	0.438																																						dbGAP											0													176.0	167.0	170.0					11																	57971339		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.315C>G	11.37:g.57971339G>C	ENSP00000305469:p.Ile105Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFG5|Q96R85	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I105M	ENST00000302592.6	37	c.315	CCDS31545.1	11	.	.	.	.	.	.	.	.	.	.	G	9.677	1.148384	0.21288	.	.	ENSG00000197887	ENST00000302592	T	0.06768	3.26	4.47	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000140	T	0.27933	0.0688	M	0.90759	3.145	0.24821	N	0.992581	D	0.89917	1.0	D	0.91635	0.999	T	0.07616	-1.0763	10	0.87932	D	0	.	4.5692	0.12202	0.2523:0.0:0.5937:0.154	.	105	Q8NGQ3	OR1S2_HUMAN	M	105	ENSP00000305469:I105M	ENSP00000305469:I105M	I	-	3	3	OR1S2	57727915	0.643000	0.27269	0.998000	0.56505	0.149000	0.21700	-0.150000	0.10189	0.216000	0.20781	-0.140000	0.14226	ATC	OR1S2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000197887		0.438	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S2	HGNC	protein_coding	OTTHUMT00000394703.2	87	0.00	0	G	NM_001004459		57971339	57971339	-1	no_errors	ENST00000302592	ensembl	human	known	69_37n	missense	61	42.59	46	SNP	0.993	C
OR5A1	219982	genome.wustl.edu	37	11	59211307	59211307	+	Silent	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:59211307T>C	ENST00000302030.2	+	1	691	c.666T>C	c.(664-666)ggT>ggC	p.G222G		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	222						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(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TCTCCTATGGTTACATAGTGT	0.527																																						dbGAP											0													224.0	203.0	211.0					11																	59211307		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.666T>C	11.37:g.59211307T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH58|Q6IFF2|Q96RB1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G222	ENST00000302030.2	37	c.666	CCDS31561.1	11																																																																																			OR5A1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172320		0.527	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A1	HGNC	protein_coding	OTTHUMT00000394233.1	53	0.00	0	T	NM_001004728		59211307	59211307	+1	no_errors	ENST00000302030	ensembl	human	known	69_37n	silent	58	14.71	10	SNP	0.000	C
OR5C1	392391	genome.wustl.edu	37	9	125551554	125551554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:125551554G>T	ENST00000373680.2	+	1	405	c.343G>T	c.(343-345)Gag>Tag	p.E115*		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GGCTGATACTGAGTGTTGCTT	0.567																																						dbGAP											0													140.0	125.0	130.0					9																	125551554		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.343G>T	9.37:g.125551554G>T	ENSP00000362784:p.Glu115*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN54|B9EGT0|Q96RC4	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E115*	ENST00000373680.2	37	c.343	CCDS35131.1	9	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951998	0.53293	.	.	ENSG00000148215	ENST00000373680	.	.	.	5.33	4.44	0.53790	.	0.000000	0.36854	U	0.002369	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3121	0.60386	0.0773:0.0:0.9227:0.0	.	.	.	.	X	115	.	ENSP00000362784:E115X	E	+	1	0	OR5C1	124591375	1.000000	0.71417	0.877000	0.34402	0.132000	0.20833	3.796000	0.55507	1.489000	0.48450	0.655000	0.94253	GAG	OR5C1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000148215		0.567	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5C1	HGNC	protein_coding	OTTHUMT00000053953.1	51	0.00	0	G			125551554	125551554	+1	no_errors	ENST00000373680	ensembl	human	known	69_37n	nonsense	49	15.25	9	SNP	0.987	T
OR5H1	26341	genome.wustl.edu	37	3	97851707	97851707	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:97851707C>A	ENST00000354565.2	+	1	166	c.166C>A	c.(166-168)Cat>Aat	p.H56N	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	56						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)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CCCTCACCTTCATATCCCAAT	0.428																																						dbGAP											0													65.0	67.0	66.0					3																	97851707		2200	4275	6475	-	-	-	SO:0001583	missense	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.166C>A	3.37:g.97851707C>A	ENSP00000346575:p.His56Asn	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.H56N	ENST00000354565.2	37	c.166	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830720	0.32329	.	.	ENSG00000231192	ENST00000354565	T	0.15952	2.38	3.57	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000257	T	0.37320	0.0999	M	0.87456	2.885	0.25018	N	0.991352	D	0.62365	0.991	P	0.58721	0.844	T	0.18935	-1.0321	10	0.59425	D	0.04	.	8.565	0.33534	0.0:0.8805:0.0:0.1195	.	56	A6NKK0	OR5H1_HUMAN	N	56	ENSP00000346575:H56N	ENSP00000346575:H56N	H	+	1	0	OR5H1	99334397	0.985000	0.35326	0.748000	0.31131	0.082000	0.17680	3.228000	0.51270	0.700000	0.31782	0.195000	0.17529	CAT	OR5H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000231192		0.428	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	93	0.00	0	C	NM_001005338		97851707	97851707	+1	no_errors	ENST00000354565	ensembl	human	known	69_37n	missense	52	49.02	50	SNP	0.998	A
OR5M3	219482	genome.wustl.edu	37	11	56237718	56237718	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:56237718C>G	ENST00000312240.2	-	1	296	c.256G>C	c.(256-258)Gat>Cat	p.D86H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTTTTTTTATCTGATAACAGG	0.368																																						dbGAP											0													88.0	80.0	83.0					11																	56237718		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.256G>C	11.37:g.56237718C>G	ENSP00000312208:p.Asp86His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.D86H	ENST00000312240.2	37	c.256	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	C	6.629	0.484410	0.12641	.	.	ENSG00000174937	ENST00000312240	T	0.01347	4.99	5.13	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	0.625555	0.14038	N	0.345604	T	0.01421	0.0046	N	0.19112	0.55	0.09310	N	1	B	0.29188	0.236	B	0.36289	0.221	T	0.49133	-0.8971	10	0.62326	D	0.03	-1.3718	6.1694	0.20408	0.0:0.6251:0.1424:0.2325	.	86	Q8NGP4	OR5M3_HUMAN	H	86	ENSP00000312208:D86H	ENSP00000312208:D86H	D	-	1	0	OR5M3	55994294	0.000000	0.05858	0.027000	0.17364	0.303000	0.27691	-0.106000	0.10890	0.074000	0.16767	0.478000	0.44815	GAT	OR5M3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000174937		0.368	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	40	0.00	0	C	NM_001004742		56237718	56237718	-1	no_errors	ENST00000312240	ensembl	human	known	69_37n	missense	32	41.82	23	SNP	0.005	G
OR6C76	390326	genome.wustl.edu	37	12	55820488	55820488	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:55820488T>A	ENST00000328314.3	+	1	451	c.451T>A	c.(451-453)Ttg>Atg	p.L151M		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L151L(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGGTTTCTTGGTAATTTT	0.438																																						dbGAP											1	Substitution - coding silent(1)	soft_tissue(1)											80.0	78.0	79.0					12																	55820488		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.451T>A	12.37:g.55820488T>A	ENSP00000328402:p.Leu151Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L151M	ENST00000328314.3	37	c.451	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	t	12.67	2.007208	0.35415	.	.	ENSG00000185821	ENST00000328314	T	0.48522	0.81	4.26	-4.68	0.03309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35870	U	0.002935	T	0.37972	0.1023	M	0.68728	2.09	0.09310	N	1	P	0.42161	0.772	B	0.43082	0.407	T	0.30416	-0.9979	10	0.40728	T	0.16	.	4.1893	0.10413	0.2613:0.3553:0.0:0.3834	.	151	A6NM76	O6C76_HUMAN	M	151	ENSP00000328402:L151M	ENSP00000328402:L151M	L	+	1	2	OR6C76	54106755	0.000000	0.05858	0.003000	0.11579	0.982000	0.71751	-3.779000	0.00368	-0.605000	0.05753	0.434000	0.28630	TTG	OR6C76	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000185821		0.438	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	32	0.00	0	T	NM_001005183		55820488	55820488	+1	no_errors	ENST00000328314	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	0.000	A
OR8A1	390275	genome.wustl.edu	37	11	124440642	124440642	+	Silent	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:124440642G>C	ENST00000284287.3	+	1	750	c.678G>C	c.(676-678)acG>acC	p.T226T		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	226					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TCATAGTCACGAGCTTAACAG	0.493																																						dbGAP											0													117.0	113.0	114.0					11																	124440642		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.678G>C	11.37:g.124440642G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEW7|Q96RC6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T226	ENST00000284287.3	37	c.678	CCDS31712.1	11																																																																																			OR8A1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196119		0.493	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	HGNC	protein_coding	OTTHUMT00000387062.1	48	0.00	0	G	NM_001005194		124440642	124440642	+1	no_errors	ENST00000284287	ensembl	human	known	69_37n	silent	38	50.00	38	SNP	0.000	C
OVCH1	341350	genome.wustl.edu	37	12	29644106	29644106	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:29644106G>A	ENST00000318184.5	-	5	473	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	158	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGGAAGACAGATTGGCTGAA	0.378																																						dbGAP											0													120.0	113.0	116.0					12																	29644106		1857	4102	5959	-	-	-	SO:0001819	synonymous_variant	0			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.474C>T	12.37:g.29644106G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6	p.I158	ENST00000318184.5	37	c.474		12																																																																																			OVCH1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000187950		0.378	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	46	0.00	0	G	NM_183378		29644106	29644106	-1	no_errors	ENST00000318184	ensembl	human	known	69_37n	silent	55	21.43	15	SNP	0.021	A
OTOGL	283310	genome.wustl.edu	37	12	80717592	80717592	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:80717592G>C	ENST00000547103.1	+	34	4150	c.4144G>C	c.(4144-4146)Gaa>Caa	p.E1382Q	OTOGL_ENST00000458043.2_Missense_Mutation_p.E1382Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1382					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAGTGACCCTGAAGCACTAGC	0.388																																						dbGAP											0													112.0	110.0	110.0					12																	80717592		1889	4108	5997	-	-	-	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4144G>C	12.37:g.80717592G>C	ENSP00000447211:p.Glu1382Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.E1382Q	ENST00000547103.1	37	c.4144		12	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611472	0.28712	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.54866	0.55;0.55	5.55	5.55	0.83447	.	.	.	.	.	T	0.44477	0.1295	N	0.25286	0.73	0.36547	D	0.8716	.	.	.	.	.	.	T	0.46679	-0.9174	7	0.18710	T	0.47	.	12.7889	0.57522	0.0753:0.0:0.9247:0.0	.	.	.	.	Q	1382	ENSP00000447211:E1382Q;ENSP00000400895:E1382Q	ENSP00000400895:E1382Q	E	+	1	0	OTOGL	79241723	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.047000	0.71038	2.610000	0.88304	0.591000	0.81541	GAA	OTOGL	-	superfamily_TIL_dom	ENSG00000165899		0.388	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	48	0.00	0	G	NM_173591		80717592	80717592	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	1.000	C
P2RX2	22953	genome.wustl.edu	37	12	133198141	133198141	+	Intron	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:133198141C>T	ENST00000389110.3	+	10	1099				P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000343948.4_Silent_p.L359L|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000348800.5_Intron|P2RX2_ENST00000351222.4_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2						behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GGAACCCTCTCTGGGGTCCCA	0.612																																						dbGAP											0													39.0	44.0	42.0					12																	133198141		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.1062+15C>T	12.37:g.133198141C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Silent	SNP	pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.L359	ENST00000389110.3	37	c.1077	CCDS31931.1	12																																																																																			P2RX2	-	NULL	ENSG00000187848		0.612	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	HGNC	protein_coding	OTTHUMT00000397542.1	26	0.00	0	C			133198141	133198141	+1	no_errors	ENST00000343948	ensembl	human	known	69_37n	silent	25	21.88	7	SNP	0.000	T
PALB2	79728	genome.wustl.edu	37	16	23647167	23647167	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:23647167C>T	ENST00000261584.4	-	4	852	c.700G>A	c.(700-702)Gat>Aat	p.D234N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	234	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGGAATGTATCAACACCTTTT	0.408			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													169.0	177.0	175.0					16																	23647167		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.700G>A	16.37:g.23647167C>T	ENSP00000261584:p.Asp234Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.D234N	ENST00000261584.4	37	c.700	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	C	12.51	1.961025	0.34565	.	.	ENSG00000083093	ENST00000261584	T	0.16743	2.32	5.7	3.42	0.39159	.	0.284694	0.30820	N	0.008817	T	0.11239	0.0274	L	0.29908	0.895	0.09310	N	1	B	0.25390	0.125	B	0.27170	0.077	T	0.28490	-1.0042	10	0.16420	T	0.52	-7.3427	8.7861	0.34821	0.0:0.8033:0.0:0.1967	.	234	Q86YC2	PALB2_HUMAN	N	234	ENSP00000261584:D234N	ENSP00000261584:D234N	D	-	1	0	PALB2	23554668	0.000000	0.05858	0.014000	0.15608	0.005000	0.04900	0.654000	0.24918	1.415000	0.47037	-0.136000	0.14681	GAT	PALB2	-	NULL	ENSG00000083093		0.408	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	44	0.00	0	C	NM_024675		23647167	23647167	-1	no_errors	ENST00000261584	ensembl	human	known	69_37n	missense	86	12.24	12	SNP	0.001	T
PALMD	54873	genome.wustl.edu	37	1	100159585	100159585	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:100159585G>T	ENST00000263174.4	+	8	1998	c.1623G>T	c.(1621-1623)atG>atT	p.M541I		NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	541					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CTTTAAGGATGAGAATGGCAA	0.313																																						dbGAP											0													36.0	38.0	37.0					1																	100159585		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.1623G>T	1.37:g.100159585G>T	ENSP00000263174:p.Met541Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	pfam_Paralemmin	p.M541I	ENST00000263174.4	37	c.1623	CCDS758.1	1	.	.	.	.	.	.	.	.	.	.	G	7.997	0.754642	0.15778	.	.	ENSG00000099260	ENST00000263174	T	0.16073	2.37	5.83	1.83	0.25207	.	0.277713	0.38272	N	0.001747	T	0.01940	0.0061	N	0.14661	0.345	0.31336	N	0.684267	B	0.02656	0.0	B	0.04013	0.001	T	0.45614	-0.9249	10	0.15499	T	0.54	-11.1884	2.3373	0.04251	0.2142:0.1307:0.5201:0.135	.	541	Q9NP74	PALMD_HUMAN	I	541	ENSP00000263174:M541I	ENSP00000263174:M541I	M	+	3	0	PALMD	99932173	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.248000	0.32827	0.365000	0.24400	0.650000	0.86243	ATG	PALMD	-	NULL	ENSG00000099260		0.313	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALMD	HGNC	protein_coding	OTTHUMT00000029672.1	22	0.00	0	G	NM_017734		100159585	100159585	+1	no_errors	ENST00000263174	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	1.000	T
PAPPA2	60676	genome.wustl.edu	37	1	176740240	176740240	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:176740240G>C	ENST00000367662.3	+	17	5803	c.4639G>C	c.(4639-4641)Gac>Cac	p.D1547H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1547	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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						GGACAACCACGACGTGGGCAC	0.493																																						dbGAP											0													121.0	114.0	116.0					1																	176740240		2067	4214	6281	-	-	-	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.4639G>C	1.37:g.176740240G>C	ENSP00000356634:p.Asp1547His	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.D1547H	ENST00000367662.3	37	c.4639	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640079	0.47153	.	.	ENSG00000116183	ENST00000367662	T	0.64438	-0.1	5.47	5.47	0.80525	Complement control module (2);Sushi/SCR/CCP (3);	0.051777	0.64402	D	0.000001	T	0.67961	0.2949	L	0.55834	1.745	0.80722	D	1	P	0.47545	0.897	P	0.49597	0.616	T	0.68413	-0.5415	10	0.46703	T	0.11	-25.1829	17.9026	0.88909	0.0:0.0:1.0:0.0	.	1547	Q9BXP8	PAPP2_HUMAN	H	1547	ENSP00000356634:D1547H	ENSP00000356634:D1547H	D	+	1	0	PAPPA2	175006863	1.000000	0.71417	0.225000	0.23894	0.420000	0.31355	4.937000	0.63513	2.553000	0.86117	0.655000	0.94253	GAC	PAPPA2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116183		0.493	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	51	0.00	0	G			176740240	176740240	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	53	46.46	46	SNP	0.940	C
PAX7	5081	genome.wustl.edu	37	1	18961014	18961014	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:18961014C>T	ENST00000375375.3	+	2	901	c.303C>T	c.(301-303)atC>atT	p.I101I	PAX7_ENST00000420770.2_Silent_p.I101I|PAX7_ENST00000400661.3_Silent_p.I101I	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	101	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.|Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	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)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGGGCCATCGGCGGCAGCA	0.637			T	FOXO1A	alveolar rhabdomyosarcoma																																	dbGAP		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													33.0	34.0	33.0					1																	18961014		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.303C>T	1.37:g.18961014C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,prints_Paired_dom,pfscan_Homeodomain,pfscan_Paired_dom	p.I101	ENST00000375375.3	37	c.303	CCDS186.1	1																																																																																			PAX7	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	ENSG00000009709		0.637	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000006928.1	13	0.00	0	C	NM_002584		18961014	18961014	+1	no_errors	ENST00000375375	ensembl	human	known	69_37n	silent	11	35.29	6	SNP	0.988	T
PARP1	142	genome.wustl.edu	37	1	226566885	226566885	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:226566885G>C	ENST00000366794.5	-	12	1846	c.1703C>G	c.(1702-1704)tCc>tGc	p.S568C		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	568					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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 regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTGTAGTAGGAGTTGGTTCC	0.547								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											0													211.0	183.0	193.0					1																	226566885		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1703C>G	1.37:g.226566885G>C	ENSP00000355759:p.Ser568Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.S568C	ENST00000366794.5	37	c.1703	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737795	0.89573	.	.	ENSG00000143799	ENST00000366794	T	0.18338	2.22	5.18	5.18	0.71444	WGR domain (4);	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66968	-0.5789	10	0.87932	D	0	.	18.6826	0.91551	0.0:0.0:1.0:0.0	.	568	P09874	PARP1_HUMAN	C	568	ENSP00000355759:S568C	ENSP00000355759:S568C	S	-	2	0	PARP1	224633508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.209000	0.95087	2.408000	0.81797	0.655000	0.94253	TCC	PARP1	-	pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain,pirsf_NAD_ADPRT	ENSG00000143799		0.547	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	73	0.00	0	G	NM_001618		226566885	226566885	-1	no_errors	ENST00000366794	ensembl	human	known	69_37n	missense	27	56.45	35	SNP	1.000	C
PCDH11X	27328	genome.wustl.edu	37	X	91642764	91642764	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:91642764G>C	ENST00000373094.1	+	5	4020	c.3175G>C	c.(3175-3177)Gaa>Caa	p.E1059Q	PCDH11X_ENST00000373088.1_Missense_Mutation_p.E1022Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.E1059Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.E1022Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.E1049Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.E1049Q|PCDH11X_ENST00000504220.2_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1059					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						TCACCTGCCAGAAGGCTCTCA	0.493																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													53.0	46.0	49.0					X																	91642764		2201	4295	6496	-	-	-	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.3175G>C	X.37:g.91642764G>C	ENSP00000362186:p.Glu1059Gln	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.E1059Q	ENST00000373094.1	37	c.3175	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102409	0.56183	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.54866	0.55;0.59;0.59;0.66;0.67;0.58	3.56	3.56	0.40772	.	0.464124	0.16106	U	0.229308	T	0.55162	0.1903	L	0.34521	1.04	0.33985	D	0.648477	D;D;D;D;D	0.58970	0.984;0.984;0.984;0.984;0.973	P;P;P;P;P	0.59703	0.862;0.862;0.862;0.862;0.731	T	0.58956	-0.7544	10	0.17832	T	0.49	.	13.7192	0.62717	0.0:0.0:1.0:0.0	.	1022;1049;1059;1049;1059	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	Q	1059;1049;1022;1049;1059;1059;1022	ENSP00000362186:E1059Q;ENSP00000362189:E1049Q;ENSP00000362180:E1022Q;ENSP00000355105:E1049Q;ENSP00000384758:E1059Q;ENSP00000298274:E1022Q	ENSP00000298274:E1022Q	E	+	1	0	PCDH11X	91529420	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.905000	0.75714	1.376000	0.46267	0.502000	0.49764	GAA	PCDH11X	-	NULL	ENSG00000102290		0.493	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	53	0.00	0	G	NM_032969		91642764	91642764	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	missense	63	30.77	28	SNP	1.000	C
PCDHA12	56137	genome.wustl.edu	37	5	140255159	140255159	+	Silent	SNP	C	C	T	rs368911944		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:140255159C>T	ENST00000398631.2	+	1	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S	PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	34	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)			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)			TCCACTACTCCGTCTACGAGG	0.672																																					Pancreas(113;759 1672 13322 24104 50104)	dbGAP											0													43.0	49.0	47.0					5																	140255159		2203	4300	6503	-	-	-	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.102C>T	5.37:g.140255159C>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.S34	ENST00000398631.2	37	c.102	CCDS47285.1	5																																																																																			PCDHA12	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000251664		0.672	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	36	0.00	0	C	NM_018903		140255159	140255159	+1	no_errors	ENST00000398631	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	0.029	T
PCDHB16	57717	genome.wustl.edu	37	5	140562820	140562820	+	Missense_Mutation	SNP	G	G	A	rs192987001		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:140562820G>A	ENST00000361016.2	+	1	1841	c.686G>A	c.(685-687)cGt>cAt	p.R229H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCAGGTCCGTATTGAAGTG	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17168	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													72.0	69.0	70.0					5																	140562820		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.686G>A	5.37:g.140562820G>A	ENSP00000354293:p.Arg229His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R229H	ENST00000361016.2	37	c.686	CCDS4251.1	5	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.008	-1.883611	0.00532	.	.	ENSG00000196963	ENST00000361016	T	0.01767	4.65	4.6	-9.2	0.00682	Cadherin (4);Cadherin-like (1);	1.908910	0.03371	N	0.198920	T	0.01254	0.0041	N	0.20610	0.595	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.36065	-0.9763	10	0.19147	T	0.46	.	7.0292	0.24956	0.3847:0.0:0.2917:0.3236	.	229	Q9NRJ7	PCDBG_HUMAN	H	229	ENSP00000354293:R229H	ENSP00000354293:R229H	R	+	2	0	PCDHB16	140543004	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.250000	0.00012	-3.922000	0.00091	-2.554000	0.00176	CGT	PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196963		0.527	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	24	0.00	0	G	NM_020957		140562820	140562820	+1	no_errors	ENST00000361016	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.000	A
PCDHB16	57717	genome.wustl.edu	37	5	140564255	140564255	+	Silent	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:140564255G>C	ENST00000361016.2	+	1	3276	c.2121G>C	c.(2119-2121)ctG>ctC	p.L707L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	707					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGCTCCTGTTCGTGGCGG	0.687																																						dbGAP											0													74.0	82.0	80.0					5																	140564255		2201	4291	6492	-	-	-	SO:0001819	synonymous_variant	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2121G>C	5.37:g.140564255G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L707	ENST00000361016.2	37	c.2121	CCDS4251.1	5																																																																																			PCDHB16	-	NULL	ENSG00000196963		0.687	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	28	0.00	0	G	NM_020957		140564255	140564255	+1	no_errors	ENST00000361016	ensembl	human	known	69_37n	silent	23	28.12	9	SNP	0.014	C
PCDHB14	56122	genome.wustl.edu	37	5	140605262	140605262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:140605262G>T	ENST00000239449.4	+	1	2185	c.2185G>T	c.(2185-2187)Gag>Tag	p.E729*	PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.E576*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	729					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGCCCGAGGGTCCCTT	0.657																																					Ovarian(141;50 1831 27899 33809 37648)	dbGAP											0													73.0	87.0	83.0					5																	140605262		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2185G>T	5.37:g.140605262G>T	ENSP00000239449:p.Glu729*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPE2|Q4FZA4|Q4KN11	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E729*	ENST00000239449.4	37	c.2185	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	17.92	3.507220	0.64410	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	.	.	.	4.2	0.136	0.14780	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	6.4493	0.21894	0.242:0.1302:0.6278:0.0	.	.	.	.	X	576;729	.	ENSP00000239449:E729X	E	+	1	0	PCDHB14	140585446	0.000000	0.05858	0.059000	0.19551	0.005000	0.04900	0.063000	0.14410	0.008000	0.14787	-1.372000	0.01188	GAG	PCDHB14	-	NULL	ENSG00000120327		0.657	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	53	0.00	0	G	NM_018934		140605262	140605262	+1	no_errors	ENST00000239449	ensembl	human	known	69_37n	nonsense	30	30.23	13	SNP	0.015	T
PCDHGB1	56104	genome.wustl.edu	37	5	140729835	140729835	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:140729835G>C	ENST00000523390.1	+	1	8	c.8G>C	c.(7-9)aGa>aCa	p.R3T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	3					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATGCAGAGAGCCAGAGAA	0.488											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													34.0	35.0	34.0					5																	140729835		1877	4109	5986	-	-	-	SO:0001583	missense	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.8G>C	5.37:g.140729835G>C	ENSP00000429273:p.Arg3Thr	Somatic	1658	WXS	Illumina GAIIx	Phase_IV	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R3T	ENST00000523390.1	37	c.8	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	9.210	1.030744	0.19512	.	.	ENSG00000254221	ENST00000523390	T	0.47869	0.83	4.14	0.768	0.18487	.	.	.	.	.	T	0.22781	0.0550	N	0.11427	0.14	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.14023	0.01;0.003	T	0.25537	-1.0129	9	0.13108	T	0.6	.	5.8606	0.18745	0.4309:0.0:0.5691:0.0	.	3;3	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	T	3	ENSP00000429273:R3T	ENSP00000429273:R3T	R	+	2	0	PCDHGB1	140710019	0.897000	0.30589	0.000000	0.03702	0.003000	0.03518	3.020000	0.49643	0.134000	0.18681	0.563000	0.77884	AGA	PCDHGB1	-	NULL	ENSG00000254221		0.488	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	26	0.00	0	G	NM_018922		140729835	140729835	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.000	C
PCNT	5116	genome.wustl.edu	37	21	47817975	47817975	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:47817975G>C	ENST00000359568.5	+	23	4601	c.4494G>C	c.(4492-4494)gaG>gaC	p.E1498D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1498					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)					TCCAGCAGGAGATTCAGAGGC	0.706																																						dbGAP											0													19.0	20.0	20.0					21																	47817975		2191	4295	6486	-	-	-	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.4494G>C	21.37:g.47817975G>C	ENSP00000352572:p.Glu1498Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.E1498D	ENST00000359568.5	37	c.4494	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872356	0.72180	.	.	ENSG00000160299	ENST00000359568	T	0.72051	-0.62	4.95	1.31	0.21738	.	0.000000	0.34411	N	0.003981	T	0.80665	0.4666	M	0.83483	2.645	0.26459	N	0.975481	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.69540	-0.5118	10	0.27785	T	0.31	.	8.5866	0.33662	0.2903:0.0:0.7097:0.0	.	1380;1498	O95613-2;O95613	.;PCNT_HUMAN	D	1498	ENSP00000352572:E1498D	ENSP00000352572:E1498D	E	+	3	2	PCNT	46642403	1.000000	0.71417	0.993000	0.49108	0.839000	0.47603	1.803000	0.38863	0.433000	0.26313	0.555000	0.69702	GAG	PCNT	-	NULL	ENSG00000160299		0.706	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	53	0.00	0	G	NM_006031		47817975	47817975	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	59	36.84	35	SNP	1.000	C
PCYT2	5833	genome.wustl.edu	37	17	79864720	79864720	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:79864720G>C	ENST00000538936.2	-	7	700	c.592C>G	c.(592-594)Cag>Gag	p.Q198E	PCYT2_ENST00000570391.1_Missense_Mutation_p.Q166E|PCYT2_ENST00000538721.2_Missense_Mutation_p.Q216E|PCYT2_ENST00000331285.3_Missense_Mutation_p.Q120E|PCYT2_ENST00000570388.1_Missense_Mutation_p.Q120E|PCYT2_ENST00000571105.1_Missense_Mutation_p.Q198E	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	198					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	ATGATCTTCTGAGATGTCTGC	0.622																																						dbGAP											0													73.0	69.0	70.0					17																	79864720		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.592C>G	17.37:g.79864720G>C	ENSP00000439245:p.Gln198Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Nonsense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel	p.S41*	ENST00000538936.2	37	c.122	CCDS11791.1	17	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338163	0.60963	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.34	4.34	0.51931	.	0.128834	0.56097	D	0.000023	T	0.61602	0.2360	M	0.85373	2.75	0.80722	D	1	P;P;B;P;P	0.46395	0.61;0.61;0.234;0.877;0.61	B;B;B;B;B	0.39339	0.23;0.165;0.138;0.297;0.23	T	0.68622	-0.5360	9	0.30854	T	0.27	-22.6309	17.0425	0.86493	0.0:0.0:1.0:0.0	.	166;166;216;120;198	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	E	216;198;120	.	ENSP00000331719:Q120E	Q	-	1	0	PCYT2	77458012	1.000000	0.71417	0.986000	0.45419	0.810000	0.45777	9.060000	0.93907	2.233000	0.73108	0.561000	0.74099	CAG	PCYT2	-	NULL	ENSG00000185813		0.622	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT2	HGNC	protein_coding	OTTHUMT00000439939.1	23	0.00	0	G	NM_002861		79864720	79864720	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000572995	ensembl	human	novel	69_37n	nonsense	25	26.47	9	SNP	1.000	C
PDE10A	10846	genome.wustl.edu	37	6	165846521	165846521	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:165846521C>T	ENST00000366882.1	-	8	758	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	PDE10A_ENST00000539869.2_Missense_Mutation_p.G212S|PDE10A_ENST00000354448.4_Missense_Mutation_p.G202S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	202	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TCGAGAATACCAATCAAGTCA	0.443																																					Esophageal Squamous(22;308 615 5753 12038 40624)	dbGAP											0													113.0	104.0	107.0					6																	165846521		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.604G>A	6.37:g.165846521C>T	ENSP00000355847:p.Gly202Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G212S	ENST00000366882.1	37	c.634		6	.	.	.	.	.	.	.	.	.	.	C	36	5.673423	0.96754	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.92647	-3.08;-3.08	5.77	5.77	0.91146	GAF (2);	0.096165	0.64402	D	0.000001	D	0.92374	0.7580	M	0.71036	2.16	0.58432	D	0.999998	P;P	0.43750	0.816;0.537	P;B	0.46362	0.514;0.309	D	0.92945	0.6375	10	0.72032	D	0.01	.	19.9923	0.97371	0.0:1.0:0.0:0.0	.	212;202	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	202;230;212;202;201	ENSP00000355847:G202S;ENSP00000346435:G202S	ENSP00000341187:G212S	G	-	1	0	PDE10A	165766511	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	7.538000	0.82048	2.729000	0.93468	0.585000	0.79938	GGT	PDE10A	-	pfam_GAF,smart_GAF	ENSG00000112541		0.443	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	37	0.00	0	C			165846521	165846521	-1	no_errors	ENST00000539869	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	0.999	T
PDE4DIP	9659	genome.wustl.edu	37	1	144855784	144855784	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:144855784C>A	ENST00000369354.3	-	41	6958	c.6769G>T	c.(6769-6771)Gcg>Tcg	p.A2257S	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2342S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2257S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2151S|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A2393S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2257					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCAGGGCCGCTCTCCAGAAC	0.572			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													56.0	51.0	53.0					1																	144855784		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6769G>T	1.37:g.144855784C>A	ENSP00000358360:p.Ala2257Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.A2257S	ENST00000369354.3	37	c.6769	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	.	29.0	4.965129	0.92855	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02446	4.29;4.32;4.31;4.42;4.34	4.87	4.87	0.63330	.	.	.	.	.	T	0.09468	0.0233	M	0.79475	2.455	0.80722	D	1	D;B	0.71674	0.998;0.257	D;B	0.68353	0.957;0.053	T	0.01156	-1.1434	9	0.72032	D	0.01	.	15.5499	0.76141	0.0:1.0:0.0:0.0	.	2151;2257	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	S	2151;2257;2257;2342;2393	ENSP00000327209:A2151S;ENSP00000358360:A2257S;ENSP00000358363:A2257S;ENSP00000435654:A2342S;ENSP00000358366:A2393S	ENSP00000327209:A2151S	A	-	1	0	PDE4DIP	143567141	1.000000	0.71417	0.481000	0.27354	0.735000	0.41995	4.446000	0.60014	2.262000	0.75019	0.549000	0.68633	GCG	PDE4DIP	-	NULL	ENSG00000178104		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	33	0.00	0	C	NM_022359		144855784	144855784	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	48	15.79	9	SNP	1.000	A
PDE4DIP	9659	genome.wustl.edu	37	1	144923812	144923812	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:144923812C>T	ENST00000369354.3	-	6	835	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E216K|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E379K|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.E379K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E353K|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E3K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E216K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E216K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E282K|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E353K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	216					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCAACTCTTCAGTCATGGGC	0.398			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													190.0	175.0	180.0					1																	144923812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.646G>A	1.37:g.144923812C>T	ENSP00000358360:p.Glu216Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.E216K	ENST00000369354.3	37	c.646	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726806	0.30593	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12465	4.64;4.73;4.74;4.72;4.72;3.74;3.75;2.69;2.69;2.68	6.03	3.13	0.36017	.	.	.	.	.	T	0.01765	0.0056	N	0.17474	0.49	0.80722	D	1	B;B;B;B;B	0.25667	0.131;0.006;0.004;0.054;0.001	B;B;B;B;B	0.24006	0.05;0.015;0.009;0.016;0.003	T	0.36841	-0.9731	9	0.06757	T	0.87	.	5.0581	0.14542	0.0:0.602:0.1526:0.2453	.	379;216;379;282;216	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	K	282;216;216;379;353;353;216;216;379;379;3	ENSP00000327209:E282K;ENSP00000358360:E216K;ENSP00000358363:E216K;ENSP00000435654:E353K;ENSP00000358366:E353K;ENSP00000358357:E216K;ENSP00000358355:E216K;ENSP00000316434:E379K;ENSP00000433392:E379K;ENSP00000436791:E3K	ENSP00000327209:E282K	E	-	1	0	PDE4DIP	143635169	0.510000	0.26171	0.410000	0.26471	0.551000	0.35334	0.915000	0.28638	0.414000	0.25790	-0.136000	0.14681	GAA	PDE4DIP	-	NULL	ENSG00000178104		0.398	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	134	0.00	0	C	NM_022359		144923812	144923812	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	189	17.67	41	SNP	0.739	T
PDE6C	5146	genome.wustl.edu	37	10	95372794	95372794	+	Silent	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:95372794G>C	ENST00000371447.3	+	1	450	c.312G>C	c.(310-312)cgG>cgC	p.R104R		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	104	GAF 1.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	GCCGGTCCCGGAACGGCATAC	0.627																																						dbGAP											0													46.0	47.0	46.0					10																	95372794		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.312G>C	10.37:g.95372794G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCR6|Q5VY29	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.R104	ENST00000371447.3	37	c.312	CCDS7429.1	10																																																																																			PDE6C	-	pfam_GAF,smart_GAF	ENSG00000095464		0.627	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	HGNC	protein_coding	OTTHUMT00000049437.1	12	0.00	0	G	NM_006204		95372794	95372794	+1	no_errors	ENST00000371447	ensembl	human	known	69_37n	silent	14	44.00	11	SNP	0.919	C
PER1	5187	genome.wustl.edu	37	17	8046116	8046116	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:8046116G>A	ENST00000317276.4	-	20	3347	c.3110C>T	c.(3109-3111)tCc>tTc	p.S1037F	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.S1014F	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1037	Ser-rich.				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						ACTGGAGCCGGAAAGTGCGTC	0.657			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													41.0	42.0	42.0					17																	8046116		2203	4300	6503	-	-	-	SO:0001583	missense	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.3110C>T	17.37:g.8046116G>A	ENSP00000314420:p.Ser1037Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.S1037F	ENST00000317276.4	37	c.3110	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680638	0.68042	.	.	ENSG00000179094	ENST00000317276	T	0.19669	2.13	5.31	4.34	0.51931	Period circadian-like, C-terminal (1);	0.116157	0.64402	N	0.000012	T	0.37210	0.0995	L	0.59436	1.845	0.80722	D	1	P	0.49783	0.928	P	0.58780	0.845	T	0.08722	-1.0708	10	0.42905	T	0.14	-7.1748	13.8247	0.63343	0.0:0.1542:0.8458:0.0	.	1037	O15534	PER1_HUMAN	F	1037	ENSP00000314420:S1037F	ENSP00000314420:S1037F	S	-	2	0	PER1	7986841	1.000000	0.71417	0.057000	0.19452	0.434000	0.31775	5.242000	0.65389	1.465000	0.48006	0.591000	0.81541	TCC	PER1	-	pfam_Period_circadian-like_C	ENSG00000179094		0.657	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	18	0.00	0	G			8046116	8046116	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	missense	15	48.28	14	SNP	0.985	A
PER1	5187	genome.wustl.edu	37	17	8047086	8047086	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:8047086G>A	ENST00000317276.4	-	19	2807	c.2570C>T	c.(2569-2571)tCa>tTa	p.S857L	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.S834L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	857	Pro-rich.				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						TGAGGGGTGTGAGACATAGCA	0.682			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													31.0	34.0	33.0					17																	8047086		2203	4300	6503	-	-	-	SO:0001583	missense	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.2570C>T	17.37:g.8047086G>A	ENSP00000314420:p.Ser857Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.S857L	ENST00000317276.4	37	c.2570	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877229	0.33162	.	.	ENSG00000179094	ENST00000317276	T	0.14893	2.47	4.71	3.71	0.42584	.	0.565162	0.19267	N	0.118507	T	0.15998	0.0385	L	0.46157	1.445	0.25473	N	0.987807	B	0.06786	0.001	B	0.04013	0.001	T	0.12811	-1.0533	10	0.33141	T	0.24	-7.453	11.8047	0.52147	0.0:0.0:0.8233:0.1767	.	857	O15534	PER1_HUMAN	L	857	ENSP00000314420:S857L	ENSP00000314420:S857L	S	-	2	0	PER1	7987811	0.989000	0.36119	0.194000	0.23346	0.608000	0.37181	3.577000	0.53885	1.157000	0.42530	0.563000	0.77884	TCA	PER1	-	NULL	ENSG00000179094		0.682	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	22	0.00	0	G			8047086	8047086	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	missense	14	51.72	15	SNP	0.114	A
PER1	5187	genome.wustl.edu	37	17	8049971	8049971	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:8049971C>T	ENST00000317276.4	-	15	2085	c.1848G>A	c.(1846-1848)gaG>gaA	p.E616E	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.E596E|PER1_ENST00000354903.5_Silent_p.E600E	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	616	Required for phosphorylation by CSNK1E. {ECO:0000250}.				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						CTTCTTTCCTCTCGGCCTCCT	0.627			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													54.0	56.0	56.0					17																	8049971		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.1848G>A	17.37:g.8049971C>T		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.E616	ENST00000317276.4	37	c.1848	CCDS11131.1	17																																																																																			PER1	-	NULL	ENSG00000179094		0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	31	0.00	0	C			8049971	8049971	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	silent	10	65.52	19	SNP	1.000	T
PER1	5187	genome.wustl.edu	37	17	8053432	8053432	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:8053432G>A	ENST00000317276.4	-	4	623	c.386C>T	c.(385-387)tCa>tTa	p.S129L	PER1_ENST00000581082.1_Missense_Mutation_p.S129L|PER1_ENST00000354903.5_Missense_Mutation_p.S113L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	129	Interaction with BTRC. {ECO:0000269|PubMed:15917222}.|Ser-rich.				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						TGCCCGGGCTGACTGTTCACT	0.627			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													107.0	118.0	114.0					17																	8053432		2203	4299	6502	-	-	-	SO:0001583	missense	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.386C>T	17.37:g.8053432G>A	ENSP00000314420:p.Ser129Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.S129L	ENST00000317276.4	37	c.386	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787582	0.90367	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.40476	2.39;1.03	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	M	0.66939	2.045	0.54753	D	0.999989	D;D;D	0.60160	0.974;0.986;0.987	P;P;D	0.66196	0.546;0.864;0.942	T	0.64952	-0.6286	10	0.87932	D	0	-12.9362	15.6785	0.77349	0.0:0.0:1.0:0.0	.	129;113;129	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	L	129;113	ENSP00000314420:S129L;ENSP00000346979:S113L	ENSP00000314420:S129L	S	-	2	0	PER1	7994157	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.557000	0.82243	2.573000	0.86826	0.563000	0.77884	TCA	PER1	-	NULL	ENSG00000179094		0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	62	0.00	0	G			8053432	8053432	-1	no_errors	ENST00000317276	ensembl	human	known	69_37n	missense	30	47.54	29	SNP	1.000	A
PHACTR1	221692	genome.wustl.edu	37	6	13287299	13287299	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:13287299C>T	ENST00000379335.3	+	5	529	c.424C>T	c.(424-426)Cac>Tac	p.H142Y	PHACTR1_ENST00000332995.7_Intron|RP1-257A7.5_ENST00000606393.1_lincRNA|PHACTR1_ENST00000457702.2_Intron|RP1-257A7.4_ENST00000606150.1_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	578					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)			CCTTAGGTTTCACCGACCTTA	0.423																																						dbGAP											0													237.0	219.0	224.0					6																	13287299		1921	4134	6055	-	-	-	SO:0001583	missense	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	ENST00000379335.3:c.424C>T	6.37:g.13287299C>T	ENSP00000368639:p.His142Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.H142Y	ENST00000379335.3	37	c.424		6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406313	0.83230	.	.	ENSG00000112137	ENST00000379335	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	T	0.76176	0.3951	M	0.79011	2.435	0.80722	D	1	D	0.69078	0.997	D	0.66716	0.946	T	0.76269	-0.3021	8	0.54805	T	0.06	10.523	19.045	0.93016	0.0:1.0:0.0:0.0	.	578	Q9C0D0	PHAR1_HUMAN	Y	142	.	ENSP00000368639:H142Y	H	+	1	0	PHACTR1	13395278	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.859000	0.69539	2.826000	0.97356	0.655000	0.94253	CAC	PHACTR1	-	NULL	ENSG00000112137		0.423	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039878.1	112	0.00	0	C	XM_166420		13287299	13287299	+1	no_errors	ENST00000379335	ensembl	human	known	69_37n	missense	104	39.66	69	SNP	1.000	T
PHACTR4	65979	genome.wustl.edu	37	1	28764913	28764913	+	Intron	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:28764913C>G	ENST00000373839.3	+	3	277				PHACTR4_ENST00000373836.3_Silent_p.V6V|PHACTR4_ENST00000493669.1_Intron	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4						actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCTGATGTCTCCAGACCGG	0.393																																						dbGAP											0													109.0	101.0	104.0					1																	28764913		1884	4108	5992	-	-	-	SO:0001627	intron_variant	0			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.17-20683C>G	1.37:g.28764913C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.V6	ENST00000373839.3	37	c.18	CCDS41293.1	1																																																																																			PHACTR4	-	NULL	ENSG00000204138		0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4	43	0.00	0	C	NM_023923		28764913	28764913	+1	no_errors	ENST00000373836	ensembl	human	known	69_37n	silent	68	16.05	13	SNP	1.000	G
PI4KA	5297	genome.wustl.edu	37	22	21115652	21115652	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:21115652C>G	ENST00000572273.1	-	23	2787	c.2557G>C	c.(2557-2559)Gat>Cat	p.D853H	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.D911H			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	853					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGAAGCGATCAGGATCTGTT	0.388																																					GBM(136;1332 1831 3115 23601 50806)	dbGAP											0													101.0	91.0	94.0					22																	21115652		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2557G>C	22.37:g.21115652C>G	ENSP00000458238:p.Asp853His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D911H	ENST00000572273.1	37	c.2731		22	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117517	0.77323	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.29	5.29	0.74685	.	0.046926	0.85682	D	0.000000	T	0.58836	0.2150	L	0.36672	1.1	0.80722	D	1	B	0.28026	0.198	B	0.33295	0.161	T	0.58323	-0.7656	9	0.54805	T	0.06	-19.0269	19.1301	0.93402	0.0:1.0:0.0:0.0	.	853	P42356	PI4KA_HUMAN	H	853	.	ENSP00000255882:D853H	D	-	1	0	PI4KA	19445652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.266000	0.78452	2.767000	0.95098	0.655000	0.94253	GAT	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.388	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		47	0.00	0	C	NM_058004		21115652	21115652	-1	no_errors	ENST00000255882	ensembl	human	known	69_37n	missense	44	38.03	27	SNP	1.000	G
PIAS1	8554	genome.wustl.edu	37	15	68466118	68466118	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:68466118C>T	ENST00000249636.6	+	9	1205	c.1057C>T	c.(1057-1059)Cat>Tat	p.H353Y	PIAS1_ENST00000545237.1_Missense_Mutation_p.H355Y	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	353					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TACATGTTCTCATCTACAATG	0.373																																						dbGAP											0													92.0	82.0	85.0					15																	68466118		1813	4086	5899	-	-	-	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1057C>T	15.37:g.68466118C>T	ENSP00000249636:p.His353Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.H353Y	ENST00000249636.6	37	c.1057	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725610	0.89298	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.74737	-0.86;-0.87	6.06	5.14	0.70334	Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94117	0.7376	10	0.87932	D	0	-15.5423	15.7778	0.78236	0.0:0.934:0.0:0.066	.	353	O75925	PIAS1_HUMAN	Y	353;355	ENSP00000249636:H353Y;ENSP00000438574:H355Y	ENSP00000249636:H353Y	H	+	1	0	PIAS1	66253172	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.081000	0.71309	2.871000	0.98454	0.655000	0.94253	CAT	PIAS1	-	pfam_Znf_MIZ,pfscan_Znf_MIZ	ENSG00000033800		0.373	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2	64	0.00	0	C			68466118	68466118	+1	no_errors	ENST00000249636	ensembl	human	known	69_37n	missense	63	23.17	19	SNP	1.000	T
PIGO	84720	genome.wustl.edu	37	9	35095226	35095226	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:35095226T>C	ENST00000378617.3	-	2	731	c.337A>G	c.(337-339)Att>Gtt	p.I113V	PIGO_ENST00000341666.3_Missense_Mutation_p.I113V|PIGO_ENST00000361778.2_Missense_Mutation_p.I113V|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000298004.5_Missense_Mutation_p.I113V|RP11-182N22.8_ENST00000431804.1_RNA	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	113					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|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)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGGGGCTGAATCTCCAGGATC	0.592																																						dbGAP											0													99.0	99.0	99.0					9																	35095226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.337A>G	9.37:g.35095226T>C	ENSP00000367880:p.Ile113Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.I113V	ENST00000378617.3	37	c.337	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	T	9.308	1.054934	0.19907	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.93	2.36	0.29203	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.371760	0.04295	N	0.346259	T	0.31979	0.0814	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18999	-1.0319	10	0.28530	T	0.3	-18.6125	5.3538	0.16050	0.1222:0.1889:0.0:0.6889	.	113;113	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	V	113	ENSP00000298004:I113V;ENSP00000367880:I113V;ENSP00000339382:I113V;ENSP00000354678:I113V	ENSP00000298004:I113V	I	-	1	0	PIGO	35085226	0.000000	0.05858	0.859000	0.33776	0.910000	0.53928	0.195000	0.17155	1.037000	0.40024	0.533000	0.62120	ATT	PIGO	-	superfamily_Alkaline_phosphatase_core	ENSG00000165282		0.592	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	39	0.00	0	T	NM_032634		35095226	35095226	-1	no_errors	ENST00000341666	ensembl	human	known	69_37n	missense	25	25.71	9	SNP	0.009	C
PIM3	415116	genome.wustl.edu	37	22	50356394	50356394	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:50356394C>T	ENST00000360612.4	+	5	1109	c.674C>T	c.(673-675)tCg>tTg	p.S225L		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CACGGGCGCTCGGCCACCGTG	0.657																																						dbGAP											0													59.0	61.0	60.0					22																	50356394		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"""pim-3 oncogene"""			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.674C>T	22.37:g.50356394C>T	ENSP00000353824:p.Ser225Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8X8|A8K7J0|B1B0P0|Q68BM2	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.S225L	ENST00000360612.4	37	c.674	CCDS33678.1	22	.	.	.	.	.	.	.	.	.	.	c	14.85	2.658015	0.47467	.	.	ENSG00000198355	ENST00000360612	T	0.20881	2.04	5.26	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.174764	0.39834	U	0.001244	T	0.16342	0.0393	L	0.33668	1.02	0.38824	D	0.955709	P	0.44816	0.844	B	0.38056	0.264	T	0.05084	-1.0907	10	0.87932	D	0	.	12.3455	0.55118	0.0:0.917:0.0:0.083	.	225	Q86V86	PIM3_HUMAN	L	225	ENSP00000353824:S225L	ENSP00000353824:S225L	S	+	2	0	PIM3	48742398	0.999000	0.42202	0.005000	0.12908	0.003000	0.03518	5.388000	0.66249	1.212000	0.43366	0.604000	0.83254	TCG	PIM3	-	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	ENSG00000198355		0.657	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM3	HGNC	protein_coding	OTTHUMT00000317406.1	20	0.00	0	C	NM_001001852		50356394	50356394	+1	no_errors	ENST00000360612	ensembl	human	known	69_37n	missense	7	38.46	5	SNP	0.442	T
PIP5K1A	8394	genome.wustl.edu	37	1	151214625	151214625	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:151214625C>T	ENST00000368888.4	+	13	1812	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.R424W|PIP5K1A_ENST00000368890.4_Intron|PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.R452W	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	464					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAAAAAGTTTCGGTCTGGCTC	0.463																																					Pancreas(80;36 1443 2325 16095 21302)	dbGAP											0													196.0	210.0	205.0					1																	151214625		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1390C>T	1.37:g.151214625C>T	ENSP00000357883:p.Arg464Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R464W	ENST00000368888.4	37	c.1390	CCDS44219.1	1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276873	0.59758	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368888	T;T;T;T	0.37584	1.54;1.53;1.19;1.53	4.39	4.39	0.52855	.	0.822520	0.11044	N	0.605762	T	0.28566	0.0707	M	0.79258	2.445	0.80722	D	1	P;B;P	0.41214	0.742;0.299;0.593	B;B;B	0.34180	0.177;0.049;0.14	T	0.44922	-0.9296	10	0.87932	D	0	.	14.1484	0.65364	0.0:1.0:0.0:0.0	.	424;464;451	Q99755-4;Q99755;Q99755-3	.;PI51A_HUMAN;.	W	451;452;424;464	ENSP00000271663:R451W;ENSP00000386432:R452W;ENSP00000415648:R424W;ENSP00000357883:R464W	ENSP00000271663:R451W	R	+	1	2	PIP5K1A	149481249	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.270000	0.51600	2.453000	0.82957	0.563000	0.77884	CGG	PIP5K1A	-	NULL	ENSG00000143398		0.463	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	43	0.00	0	C	NM_003557		151214625	151214625	+1	no_errors	ENST00000368888	ensembl	human	known	69_37n	missense	45	33.82	23	SNP	1.000	T
PIWIL1	9271	genome.wustl.edu	37	12	130839094	130839094	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:130839094G>C	ENST00000245255.3	+	10	1329	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	353	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.			E -> K (in Ref. 6; BAF49084). {ECO:0000305}.	gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATACAACCAAGAGATCACCGA	0.532																																						dbGAP											0													100.0	103.0	102.0					12																	130839094		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1057G>C	12.37:g.130839094G>C	ENSP00000245255:p.Glu353Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.E353Q	ENST00000245255.3	37	c.1057	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009983	0.35415	.	.	ENSG00000125207	ENST00000245255	T	0.15718	2.4	5.58	4.68	0.58851	Argonaute/Dicer protein, PAZ (4);	0.318897	0.37483	N	0.002080	T	0.13243	0.0321	N	0.25825	0.765	0.42950	D	0.99437	B;B	0.17038	0.02;0.008	B;B	0.20184	0.028;0.023	T	0.07481	-1.0770	10	0.18710	T	0.47	-10.1779	14.9121	0.70767	0.0:0.0:0.8557:0.1443	.	353;353	Q96J94;Q96J94-2	PIWL1_HUMAN;.	Q	353	ENSP00000245255:E353Q	ENSP00000245255:E353Q	E	+	1	0	PIWIL1	129405047	1.000000	0.71417	0.950000	0.38849	0.973000	0.67179	9.174000	0.94824	1.329000	0.45376	0.558000	0.71614	GAG	PIWIL1	-	pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ	ENSG00000125207		0.532	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	20	0.00	0	G			130839094	130839094	+1	no_errors	ENST00000245255	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	0.998	C
PKD2	5311	genome.wustl.edu	37	4	88973231	88973231	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:88973231C>T	ENST00000237596.2	+	7	1703	c.1637C>T	c.(1636-1638)cCc>cTc	p.P546L	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AATACTTTCCCCAACTTTGAG	0.353																																						dbGAP											0													99.0	98.0	98.0					4																	88973231		2203	4299	6502	-	-	-	SO:0001583	missense	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1637C>T	4.37:g.88973231C>T	ENSP00000237596:p.Pro546Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1	p.P546L	ENST00000237596.2	37	c.1637	CCDS3627.1	4	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476597	0.63737	.	.	ENSG00000118762	ENST00000237596	T	0.67171	-0.25	5.23	5.23	0.72850	Polycystin cation channel, PKD1/PKD2 (1);	0.049474	0.85682	D	0.000000	T	0.67757	0.2927	L	0.54323	1.7	0.80722	D	1	B	0.21225	0.053	B	0.30943	0.122	T	0.64841	-0.6312	10	0.48119	T	0.1	-17.7675	19.1928	0.93674	0.0:1.0:0.0:0.0	.	546	Q13563	PKD2_HUMAN	L	546	ENSP00000237596:P546L	ENSP00000237596:P546L	P	+	2	0	PKD2	89192255	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.863000	0.69568	2.596000	0.87737	0.655000	0.94253	CCC	PKD2	-	pfam_PKD1_2_channel,pfam_Ion_trans_dom	ENSG00000118762		0.353	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000253042.4	64	0.00	0	C	NM_000297		88973231	88973231	+1	no_errors	ENST00000237596	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	1.000	T
PKM	5315	genome.wustl.edu	37	15	72492897	72492897	+	Silent	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:72492897G>T	ENST00000335181.5	-	10	1510	c.1407C>A	c.(1405-1407)atC>atA	p.I469I	PKM_ENST00000565154.1_Silent_p.I469I|PKM_ENST00000319622.6_Silent_p.I469I|GRAMD2_ENST00000309731.7_5'Flank|PKM_ENST00000565184.1_Silent_p.I469I|PKM_ENST00000568883.1_Silent_p.I304I|PKM_ENST00000568459.1_Silent_p.I469I|PKM_ENST00000389093.3_Silent_p.I469I|PKM_ENST00000449901.2_Silent_p.I454I	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	469	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GCACAGGGAAGATGCCACGGT	0.627																																						dbGAP											0													71.0	68.0	69.0					15																	72492897		2199	4297	6496	-	-	-	SO:0001819	synonymous_variant	0			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1407C>A	15.37:g.72492897G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.I469	ENST00000335181.5	37	c.1407	CCDS32284.1	15																																																																																			PKM	-	pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase	ENSG00000067225		0.627	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKM	HGNC	protein_coding	OTTHUMT00000420056.1	20	0.00	0	G			72492897	72492897	-1	no_errors	ENST00000319622	ensembl	human	known	69_37n	silent	21	25.00	7	SNP	0.998	T
PKN2	5586	genome.wustl.edu	37	1	89294223	89294223	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:89294223G>A	ENST00000370521.3	+	19	2838	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	PKN2_ENST00000370513.5_Missense_Mutation_p.E779K|PKN2_ENST00000544045.1_Missense_Mutation_p.E501K|PKN2_ENST00000370505.3_Missense_Mutation_p.E670K	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	827	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCTTGCCCCAGAAGTATTAAC	0.388																																						dbGAP											0													99.0	91.0	93.0					1																	89294223		1831	4089	5920	-	-	-	SO:0001583	missense	0			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2479G>A	1.37:g.89294223G>A	ENSP00000359552:p.Glu827Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_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_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.E827K	ENST00000370521.3	37	c.2479	CCDS714.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.249462|5.249462	0.95305|0.95305	.|.	.|.	ENSG00000065243|ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045;ENST00000544215|ENST00000449189	T;T;T;T|.	0.66460|.	-0.21;-0.21;-0.21;-0.21|.	5.16|5.16	5.16|5.16	0.70880|0.70880	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|.	0.45867|.	U|.	0.000328|.	D|D	0.91513|0.91513	0.7320|0.7320	H|H	0.99682|0.99682	4.7|4.7	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.999|.	D;D;D|.	0.75484|.	0.986;0.948;0.969|.	D|D	0.95029|0.95029	0.8167|0.8167	10|5	0.87932|.	D|.	0|.	.|.	18.8312|18.8312	0.92141|0.92141	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	811;779;827|.	B4DTP5;E7ESL7;Q16513|.	.;.;PKN2_HUMAN|.	K|K	827;670;779;501;81|34	ENSP00000359552:E827K;ENSP00000359536:E670K;ENSP00000359544:E779K;ENSP00000439643:E501K|.	ENSP00000359536:E670K|.	E|R	+|+	1|2	0|0	PKN2|PKN2	89066811|89066811	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.263000|9.263000	0.95617|0.95617	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GAA|AGA	PKN2	-	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	ENSG00000065243		0.388	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	63	0.00	0	G	NM_006256		89294223	89294223	+1	no_errors	ENST00000370521	ensembl	human	known	69_37n	missense	71	29.13	30	SNP	1.000	A
PLCXD3	345557	genome.wustl.edu	37	5	41313823	41313823	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:41313823T>A	ENST00000377801.3	-	3	936	c.862A>T	c.(862-864)Agt>Tgt	p.S288C	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S288C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	288					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						TTGATGCCACTCTCTCCTGGC	0.438																																						dbGAP											0													103.0	93.0	96.0					5																	41313823		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.862A>T	5.37:g.41313823T>A	ENSP00000367032:p.Ser288Cys	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.S288C	ENST00000377801.3	37	c.862	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	T	23.7	4.442424	0.83993	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.125473	0.64402	D	0.000001	T	0.48314	0.1493	L	0.29908	0.895	0.58432	D	0.999999	D	0.58620	0.983	P	0.46543	0.52	T	0.51196	-0.8736	9	0.52906	T	0.07	-11.5168	15.8879	0.79264	0.0:0.0:0.0:1.0	.	288	Q63HM9	PLCX3_HUMAN	C	288	.	ENSP00000333751:S288C	S	-	1	0	PLCXD3	41349580	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.818000	0.62657	2.163000	0.67991	0.533000	0.62120	AGT	PLCXD3	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000182836		0.438	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	26	0.00	0	T	XM_293875		41313823	41313823	-1	no_errors	ENST00000328457	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	A
PLD1	5337	genome.wustl.edu	37	3	171405270	171405270	+	Silent	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:171405270C>A	ENST00000351298.4	-	15	1770	c.1644G>T	c.(1642-1644)ctG>ctT	p.L548L	PLD1_ENST00000356327.5_Silent_p.L548L|PLD1_ENST00000340989.4_Silent_p.L548L|PLD1_ENST00000342215.6_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	548	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.L548L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTATTCCTTTCAGTTTTGAAT	0.433																																					NSCLC(149;2174 3517 34058)	dbGAP											1	Substitution - coding silent(1)	lung(1)											152.0	143.0	146.0					3																	171405270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1644G>T	3.37:g.171405270C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.L548	ENST00000351298.4	37	c.1644	CCDS3216.1	3																																																																																			PLD1	-	pirsf_PLipase_D_euk	ENSG00000075651		0.433	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	73	0.00	0	C	NM_002662		171405270	171405270	-1	no_errors	ENST00000351298	ensembl	human	known	69_37n	silent	135	29.53	57	SNP	1.000	A
PLEC	5339	genome.wustl.edu	37	8	145006649	145006649	+	Silent	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:145006649C>A	ENST00000322810.4	-	16	2476	c.2307G>T	c.(2305-2307)ctG>ctT	p.L769L	PLEC_ENST00000354958.2_Silent_p.L610L|PLEC_ENST00000527096.1_Silent_p.L655L|PLEC_ENST00000356346.3_Silent_p.L618L|PLEC_ENST00000436759.2_Silent_p.L659L|PLEC_ENST00000357649.2_Silent_p.L636L|PLEC_ENST00000345136.3_Silent_p.L632L|PLEC_ENST00000354589.3_Silent_p.L632L|PLEC_ENST00000398774.2_Silent_p.L600L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	769	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTCTCATTCAGCCACATTA	0.617																																						dbGAP											0													56.0	68.0	64.0					8																	145006649		2050	4185	6235	-	-	-	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2307G>T	8.37:g.145006649C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L769	ENST00000322810.4	37	c.2307	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin	ENSG00000178209		0.617	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	32	0.00	0	C	NM_000445		145006649	145006649	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	silent	19	42.42	14	SNP	0.628	A
PLEKHG1	57480	genome.wustl.edu	37	6	151152844	151152844	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:151152844A>T	ENST00000358517.2	+	15	2808	c.2597A>T	c.(2596-2598)gAt>gTt	p.D866V	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.D866V			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	866							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTGAGCAAGGATGATGTGCCA	0.557																																						dbGAP											0													44.0	48.0	47.0					6																	151152844		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2597A>T	6.37:g.151152844A>T	ENSP00000351318:p.Asp866Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D866V	ENST00000358517.2	37	c.2597	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	A	14.50	2.552827	0.45487	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.21361	2.01;2.01	5.47	5.47	0.80525	.	0.420286	0.27797	N	0.017816	T	0.18383	0.0441	M	0.61703	1.905	0.54753	D	0.999985	P;P;P	0.50066	0.883;0.931;0.883	B;B;B	0.44224	0.444;0.444;0.422	T	0.02471	-1.1154	10	0.87932	D	0	.	15.569	0.76320	1.0:0.0:0.0:0.0	.	673;866;866	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	V	866	ENSP00000356297:D866V;ENSP00000351318:D866V	ENSP00000351318:D866V	D	+	2	0	PLEKHG1	151194537	0.998000	0.40836	0.144000	0.22314	0.394000	0.30568	3.599000	0.54045	2.079000	0.62486	0.496000	0.49642	GAT	PLEKHG1	-	NULL	ENSG00000120278		0.557	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	21	0.00	0	A			151152844	151152844	+1	no_errors	ENST00000358517	ensembl	human	known	69_37n	missense	9	41.18	7	SNP	0.896	T
PLEKHG7	440107	genome.wustl.edu	37	12	93134665	93134665	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:93134665G>A	ENST00000344636.3	+	3	224	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	PLEKHG7_ENST00000549856.1_Missense_Mutation_p.E14K	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	14	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						GCAAACTCATGAATATCTCCT	0.313																																						dbGAP											0													82.0	81.0	81.0					12																	93134665		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.40G>A	12.37:g.93134665G>A	ENSP00000344961:p.Glu14Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNR7	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E14K	ENST00000344636.3	37	c.40	CCDS31873.1	12	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220781	0.58560	.	.	ENSG00000187510	ENST00000344636	T	0.68025	-0.3	5.7	5.7	0.88788	Dbl homology (DH) domain (4);	0.524430	0.22598	N	0.057989	T	0.62925	0.2468	L	0.42245	1.32	0.37924	D	0.931772	B	0.27971	0.196	B	0.27170	0.077	T	0.62388	-0.6865	10	0.41790	T	0.15	-7.6351	19.4295	0.94758	0.0:0.0:1.0:0.0	.	14	Q6ZR37	PKHG7_HUMAN	K	14	ENSP00000344961:E14K	ENSP00000344961:E14K	E	+	1	0	PLEKHG7	91658796	1.000000	0.71417	0.976000	0.42696	0.858000	0.48976	6.658000	0.74407	2.696000	0.92011	0.561000	0.74099	GAA	PLEKHG7	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000187510		0.313	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG7	HGNC	protein_coding	OTTHUMT00000407288.1	43	0.00	0	G	NM_001004330		93134665	93134665	+1	no_errors	ENST00000344636	ensembl	human	known	69_37n	missense	40	22.64	12	SNP	0.997	A
PLK3	1263	genome.wustl.edu	37	1	45266520	45266520	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:45266520C>T	ENST00000372201.4	+	2	458	c.219C>T	c.(217-219)ttC>ttT	p.F73F	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGGGGGGCTTCGCCCGCTGCT	0.692																																						dbGAP											0													11.0	14.0	13.0					1																	45266520		2178	4271	6449	-	-	-	SO:0001819	synonymous_variant	0			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.219C>T	1.37:g.45266520C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15767|Q5JR99|Q96CV1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.F73	ENST00000372201.4	37	c.219	CCDS515.1	1																																																																																			PLK3	-	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	ENSG00000173846		0.692	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	12	0.00	0	C	NM_004073		45266520	45266520	+1	no_errors	ENST00000372201	ensembl	human	known	69_37n	silent	7	36.36	4	SNP	0.999	T
PLXNA1	5361	genome.wustl.edu	37	3	126724938	126724938	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:126724938G>A	ENST00000393409.2	+	7	1914	c.1914G>A	c.(1912-1914)gtG>gtA	p.V638V	PLXNA1_ENST00000251772.4_Silent_p.V615V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	638					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCGGGTGGTGAAACTCTACC	0.567																																						dbGAP											0													204.0	180.0	188.0					3																	126724938		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1914G>A	3.37:g.126724938G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	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.V638	ENST00000393409.2	37	c.1914	CCDS33847.2	3																																																																																			PLXNA1	-	NULL	ENSG00000114554		0.567	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	48	0.00	0	G	NM_032242		126724938	126724938	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	silent	21	73.42	58	SNP	0.997	A
PMEL	6490	genome.wustl.edu	37	12	56351203	56351203	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:56351203G>C	ENST00000548747.1	-	6	1546	c.884C>G	c.(883-885)gCc>gGc	p.A295G	PMEL_ENST00000552882.1_Missense_Mutation_p.A295G|PMEL_ENST00000550464.1_Missense_Mutation_p.A209G|PMEL_ENST00000360714.4_Missense_Mutation_p.A295G|PMEL_ENST00000539511.1_Missense_Mutation_p.A209G|PMEL_ENST00000449260.2_Missense_Mutation_p.A295G|PMEL_ENST00000548493.1_Missense_Mutation_p.A295G|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000536427.1_Missense_Mutation_p.A295G			P40967	PMEL_HUMAN	premelanosome protein	295					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAGGAATGGCAGCCTGCAG	0.602																																						dbGAP											0													67.0	66.0	67.0					12																	56351203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.884C>G	12.37:g.56351203G>C	ENSP00000448828:p.Ala295Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.A295G	ENST00000548747.1	37	c.884	CCDS8897.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.0|20.0	3.930093|3.930093	0.73327|0.73327	.|.	.|.	ENSG00000185664|ENSG00000185664	ENST00000449260;ENST00000552882;ENST00000550464;ENST00000548747;ENST00000548493;ENST00000360714;ENST00000536427;ENST00000539511;ENST00000547137;ENST00000546543|ENST00000549404	T;T;T;T;T;T;T;T;T;T|.	0.60424|.	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19|.	5.73|5.73	4.84|4.84	0.62591|0.62591	PKD/Chitinase domain (1);PKD domain (1);|.	0.095077|.	0.46145|.	D|.	0.000318|.	T|T	0.63827|0.63827	0.2544|0.2544	L|L	0.53561|0.53561	1.675|1.675	0.45946|0.45946	D|D	0.998773|0.998773	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.999;0.988;0.998|.	T|T	0.62167|0.62167	-0.6911|-0.6911	10|5	0.51188|.	T|.	0.08|.	-16.4455|-16.4455	14.1287|14.1287	0.65238|0.65238	0.0735:0.0:0.9265:0.0|0.0735:0.0:0.9265:0.0	.|.	209;295;295|.	P40967-3;P40967-2;P40967|.	.;.;PMEL_HUMAN|.	G|W	295;295;209;295;295;295;295;209;241;246|182	ENSP00000402758:A295G;ENSP00000449690:A295G;ENSP00000450036:A209G;ENSP00000448828:A295G;ENSP00000447374:A295G;ENSP00000353940:A295G;ENSP00000438695:A295G;ENSP00000445005:A209G;ENSP00000448849:A241G;ENSP00000446662:A246G|.	ENSP00000353940:A295G|.	A|C	-|-	2|3	0|2	PMEL|PMEL	54637470|54637470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.290000|4.290000	0.59019|0.59019	1.577000|1.577000	0.49804|0.49804	0.650000|0.650000	0.86243|0.86243	GCC|TGC	PMEL	-	pfam_PKD_dom,smart_PKD/Chitinase_dom	ENSG00000185664		0.602	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	33	0.00	0	G	NM_006928		56351203	56351203	-1	no_errors	ENST00000360714	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	1.000	C
PLXNC1	10154	genome.wustl.edu	37	12	94692560	94692560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:94692560G>A	ENST00000258526.4	+	27	4476	c.4227G>A	c.(4225-4227)tgG>tgA	p.W1409*	PLXNC1_ENST00000545312.1_Nonsense_Mutation_p.W148*|PLXNC1_ENST00000547057.1_Nonsense_Mutation_p.W456*	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1409					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACATATTTGGAAAACAAACA	0.363																																						dbGAP											0													57.0	60.0	59.0					12																	94692560		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4227G>A	12.37:g.94692560G>A	ENSP00000258526:p.Trp1409*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59H25	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.W1409*	ENST00000258526.4	37	c.4227	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	41	9.144130	0.99080	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	1409;456;148	.	ENSP00000258526:W1409X	W	+	3	0	PLXNC1	93216691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	TGG	PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000136040		0.363	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	31	0.00	0	G			94692560	94692560	+1	no_errors	ENST00000258526	ensembl	human	known	69_37n	nonsense	62	24.39	20	SNP	1.000	A
PNPLA1	285848	genome.wustl.edu	37	6	36259107	36259107	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:36259107C>T	ENST00000394571.2	+	2	216	c.216C>T	c.(214-216)ctC>ctT	p.L72L	PNPLA1_ENST00000312917.5_5'UTR|PNPLA1_ENST00000388715.3_5'UTR	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	72	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ATGAGTATCTCAGAGTCCTCA	0.572																																						dbGAP											0													62.0	62.0	62.0					6																	36259107		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.216C>T	6.37:g.36259107C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.L72	ENST00000394571.2	37	c.216	CCDS54997.1	6																																																																																			PNPLA1	-	superfamily_Acyl_Trfase/lysoPLipase	ENSG00000180316		0.572	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding		31	0.00	0	C	NM_173676		36259107	36259107	+1	no_errors	ENST00000457797	ensembl	human	known	69_37n	silent	26	29.73	11	SNP	0.817	T
POTEA	340441	genome.wustl.edu	37	8	43152473	43152473	+	RNA	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:43152473A>G	ENST00000522175.2	+	0	461							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTTGCTACAACATGGCACTG	0.368																																						dbGAP											0													105.0	103.0	103.0					8																	43152473		2202	4298	6500	-	-	-			0			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152473A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND17|A6ND71|Q6S8J6	RNA	SNP	-	NULL	ENST00000522175.2	37	NULL		8																																																																																			POTEA	-	-	ENSG00000188877		0.368	POTEA-003	KNOWN	basic	processed_transcript	POTEA	HGNC	pseudogene	OTTHUMT00000383492.1	86	0.00	0	A	NM_001002920		43152473	43152473	+1	no_errors	ENST00000522175	ensembl	human	known	69_37n	rna	86	17.31	18	SNP	0.990	G
POTEC	388468	genome.wustl.edu	37	18	14542700	14542700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr18:14542700C>T	ENST00000358970.5	-	1	445	c.446G>A	c.(445-447)tGg>tAg	p.W149*	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	149										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GACCTTACCCCACCAGGCAGC	0.582																																						dbGAP											0													139.0	131.0	133.0					18																	14542700		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.446G>A	18.37:g.14542700C>T	ENSP00000351856:p.Trp149*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.W149*	ENST00000358970.5	37	c.446	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.301144	0.95601	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	.	.	.	1.24	-2.49	0.06403	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	2.4746	0.04573	0.4792:0.3216:0.0:0.1992	.	.	.	.	X	149	.	ENSP00000351856:W149X	W	-	2	0	POTEC	14532700	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.886000	0.04157	-1.263000	0.02455	0.197000	0.17608	TGG	POTEC	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000183206		0.582	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	126	0.00	0	C	XM_496269		14542700	14542700	-1	no_errors	ENST00000358970	ensembl	human	known	69_37n	nonsense	168	12.95	25	SNP	0.000	T
PPFIBP2	8495	genome.wustl.edu	37	11	7647043	7647043	+	Silent	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:7647043G>T	ENST00000299492.4	+	8	1135	c.747G>T	c.(745-747)ctG>ctT	p.L249L	PPFIBP2_ENST00000533792.1_Silent_p.L91L|PPFIBP2_ENST00000528883.1_Silent_p.L137L|PPFIBP2_ENST00000530181.1_Silent_p.L106L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	249					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGGTGGCCCTGAAAGATGCAG	0.547																																						dbGAP											0													77.0	72.0	74.0					11																	7647043		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.747G>T	11.37:g.7647043G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L249	ENST00000299492.4	37	c.747	CCDS31419.1	11																																																																																			PPFIBP2	-	pfam_Integrase_Tn916-type_DNA-bd_N	ENSG00000166387		0.547	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	33	0.00	0	G	NM_003621		7647043	7647043	+1	no_errors	ENST00000299492	ensembl	human	known	69_37n	silent	16	50.00	16	SNP	1.000	T
PPHLN1	51535	genome.wustl.edu	37	12	42792671	42792671	+	Missense_Mutation	SNP	C	C	A	rs191890467	byFrequency	TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:42792671C>A	ENST00000395568.2	+	9	868	c.784C>A	c.(784-786)Cca>Aca	p.P262T	RNU6-249P_ENST00000363016.1_RNA|PPHLN1_ENST00000317560.9_Missense_Mutation_p.P195T|PPHLN1_ENST00000395580.3_Missense_Mutation_p.P269T|PPHLN1_ENST00000256678.8_Missense_Mutation_p.P142T|PPHLN1_ENST00000358314.7_Missense_Mutation_p.P262T|PPHLN1_ENST00000552761.1_Missense_Mutation_p.P214T|PPHLN1_ENST00000449194.2_Missense_Mutation_p.P243T|PPHLN1_ENST00000549190.1_Missense_Mutation_p.P280T|PPHLN1_ENST00000337898.6_Missense_Mutation_p.P207T|PPHLN1_ENST00000432191.2_Missense_Mutation_p.P207T	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	262					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		ATCCACAGCACCATTGTTTAC	0.393																																						dbGAP											0													90.0	83.0	85.0					12																	42792671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.784C>A	12.37:g.42792671C>A	ENSP00000378935:p.Pro262Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Missense_Mutation	SNP	NULL	p.P262T	ENST00000395568.2	37	c.784	CCDS31777.1	12	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838485	0.51057	.	.	ENSG00000134283	ENST00000549190;ENST00000395580;ENST00000337898;ENST00000358314;ENST00000395568;ENST00000256678;ENST00000449194;ENST00000552761;ENST00000317560;ENST00000432191	.	.	.	6.17	4.08	0.47627	.	0.255793	0.34314	N	0.004067	T	0.56485	0.1988	M	0.63428	1.95	0.31411	N	0.67548	P;D;D;P;P;P;P;P;B;P;P;P;P;P	0.55800	0.58;0.967;0.973;0.951;0.759;0.525;0.941;0.831;0.273;0.47;0.746;0.47;0.746;0.613	B;P;P;P;P;B;P;P;B;B;P;P;P;P	0.56563	0.407;0.692;0.718;0.801;0.543;0.231;0.692;0.577;0.328;0.353;0.637;0.474;0.637;0.474	T	0.64508	-0.6391	9	0.72032	D	0.01	-3.4016	9.0055	0.36109	0.0:0.771:0.1443:0.0848	.	195;142;188;207;195;78;207;262;243;262;214;269;214;280	F8WF16;F8W6A0;B7Z695;B7Z8L1;B7Z615;Q8NEY8-7;Q8NEY8-3;Q8NEY8;E9PAX8;Q8NEY8-8;Q8NEY8-6;Q8NEY8-2;Q8NEY8-5;F8W0Q9	.;.;.;.;.;.;.;PPHLN_HUMAN;.;.;.;.;.;.	T	280;269;207;262;262;142;243;214;195;207	.	ENSP00000256678:P142T	P	+	1	0	PPHLN1	41078938	0.998000	0.40836	0.992000	0.48379	0.888000	0.51559	1.604000	0.36804	1.463000	0.47967	0.655000	0.94253	CCA	PPHLN1	-	NULL	ENSG00000134283		0.393	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	PPHLN1	HGNC	protein_coding	OTTHUMT00000404047.1	42	0.00	0	C	NM_201515		42792671	42792671	+1	no_errors	ENST00000395568	ensembl	human	known	69_37n	missense	48	27.27	18	SNP	0.986	A
PPIP5K2	23262	genome.wustl.edu	37	5	102483692	102483692	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:102483692T>C	ENST00000358359.3	+	7	1209	c.700T>C	c.(700-702)Tat>Cat	p.Y234H	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.Y234H|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.Y234H	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	234					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AACAGGCTCATATATATATGA	0.299																																						dbGAP											0													108.0	116.0	113.0					5																	102483692		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.700T>C	5.37:g.102483692T>C	ENSP00000351126:p.Tyr234His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.Y234H	ENST00000358359.3	37	c.700		5	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670651	0.88348	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	T;T;T;T	0.34667	1.39;3.07;1.35;1.39	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000004	T	0.68302	0.2986	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.76825	-0.2816	10	0.87932	D	0	.	15.7018	0.77547	0.0:0.0:0.0:1.0	.	156;234;234	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	H	234;156;234;234;234;164	ENSP00000313070:Y234H;ENSP00000422525:Y156H;ENSP00000351126:Y234H;ENSP00000416016:Y234H	ENSP00000313070:Y234H	Y	+	1	0	PPIP5K2	102511591	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.944000	0.87722	2.179000	0.69175	0.460000	0.39030	TAT	PPIP5K2	-	NULL	ENSG00000145725		0.299	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	79	0.00	0	T	NM_015216		102483692	102483692	+1	no_errors	ENST00000358359	ensembl	human	known	69_37n	missense	78	18.75	18	SNP	1.000	C
PPP1R12A	4659	genome.wustl.edu	37	12	80266599	80266599	+	Silent	SNP	A	A	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:80266599A>C	ENST00000450142.2	-	2	623	c.357T>G	c.(355-357)ctT>ctG	p.L119L	PPP1R12A_ENST00000261207.5_Silent_p.L119L|PPP1R12A_ENST00000437004.2_Silent_p.L119L|PPP1R12A_ENST00000550107.1_Silent_p.L119L|PPP1R12A_ENST00000546369.1_Silent_p.L32L	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	119					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CTGCAATATCAAGATATCCAC	0.353																																						dbGAP											0													113.0	108.0	109.0					12																	80266599		1912	4173	6085	-	-	-	SO:0001819	synonymous_variant	0			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.357T>G	12.37:g.80266599A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L119	ENST00000450142.2	37	c.357	CCDS44947.1	12																																																																																			PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000058272		0.353	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	54	0.00	0	A	NM_002480		80266599	80266599	-1	no_errors	ENST00000261207	ensembl	human	known	69_37n	silent	54	28.95	22	SNP	0.514	C
PPY	5539	genome.wustl.edu	37	17	42018893	42018893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:42018893C>A	ENST00000591228.1	-	2	217	c.130G>T	c.(130-132)Gag>Tag	p.E44*	PPY_ENST00000587006.1_Nonsense_Mutation_p.E44*|PPY_ENST00000225992.3_Nonsense_Mutation_p.E44*			P01298	PAHO_HUMAN	pancreatic polypeptide	44					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCCATCTGCTCTGGTGTGGCA	0.607																																						dbGAP											0													157.0	143.0	148.0					17																	42018893		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS11472.1	17q21.31	2013-02-28			ENSG00000108849	ENSG00000108849		"""Endogenous ligands"""	9327	protein-coding gene	gene with protein product	"""pancreatic polypeptide Y"", ""prepro-PP (prepropancreatic polypeptide)"""	167780				3753985	Standard	NM_002722		Approved	PNP	uc002iep.3	P01298		ENST00000591228.1:c.130G>T	17.37:g.42018893C>A	ENSP00000466009:p.Glu44*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	p.E44*	ENST00000591228.1	37	c.130	CCDS11472.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161185	0.78226	.	.	ENSG00000108849	ENST00000225992	.	.	.	4.63	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.5003	10.6581	0.45686	0.0:0.8057:0.1943:0.0	.	.	.	.	X	44	.	ENSP00000225992:E44X	E	-	1	0	PPY	39374419	0.905000	0.30787	0.875000	0.34327	0.972000	0.66771	1.455000	0.35190	1.267000	0.44247	0.561000	0.74099	GAG	PPY	-	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	ENSG00000108849		0.607	PPY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPY	HGNC	protein_coding	OTTHUMT00000457656.1	59	0.00	0	C	NM_002722		42018893	42018893	-1	no_errors	ENST00000225992	ensembl	human	known	69_37n	nonsense	59	16.90	12	SNP	0.935	A
PRRC2B	84726	genome.wustl.edu	37	9	134358295	134358296	+	Splice_Site	DEL	GT	GT	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:134358295_134358296delGT	ENST00000357304.4	+	21	5428		c.e21+1		SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000405995.1_Splice_Site|PRRC2B_ENST00000372249.1_Splice_Site|PRRC2B_ENST00000458550.1_Splice_Site	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B								poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGTCCAAAAGTGAGGCTTTGA	0.495																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5373+1GT>-	9.37:g.134358295_134358296delGT		Somatic		WXS	Illumina GAIIx	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Splice_Site	DEL	-	e21+1	ENST00000357304.4	37	c.5373+1_5373+1	CCDS48044.1	9																																																																																			PRRC2B	-	-	ENSG00000130723		0.495	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		25	0.00	0	GT		Intron	134358295	134358296	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	splice_site_del	26	10.00	3	DEL	1.000:1.000	-
PRSS27	83886	genome.wustl.edu	37	16	2762622	2762622	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:2762622C>T	ENST00000302641.3	-	6	926	c.872G>A	c.(871-873)tGa>tAa	p.*291*	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	0						extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCGGGGGTCTCACTTCTGGCC	0.652																																						dbGAP											0													34.0	31.0	32.0					16																	2762622		2193	4299	6492	-	-	-	SO:0001819	synonymous_variant	0			AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.872G>A	16.37:g.2762622C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.*291	ENST00000302641.3	37	c.872	CCDS10476.1	16																																																																																			PRSS27	-	NULL	ENSG00000172382		0.652	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS27	HGNC	protein_coding	OTTHUMT00000250908.1	19	0.00	0	C	NM_031948		2762622	2762622	-1	no_errors	ENST00000302641	ensembl	human	known	69_37n	silent	16	42.86	12	SNP	0.000	T
PRSS27	83886	genome.wustl.edu	37	16	2762726	2762726	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:2762726C>G	ENST00000302641.3	-	6	822	c.768G>C	c.(766-768)caG>caC	p.Q256H	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	256	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CTGGGCGGTTCTGGCGGGCAC	0.682																																						dbGAP											0													45.0	37.0	40.0					16																	2762726		2195	4294	6489	-	-	-	SO:0001583	missense	0			AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.768G>C	16.37:g.2762726C>G	ENSP00000306390:p.Gln256His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.Q256H	ENST00000302641.3	37	c.768	CCDS10476.1	16	.	.	.	.	.	.	.	.	.	.	.	9.822	1.185947	0.21870	.	.	ENSG00000172382	ENST00000302641;ENST00000543965	D	0.88975	-2.45	5.21	0.501	0.16925	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.719712	0.12006	N	0.508375	T	0.81711	0.4880	L	0.33485	1.01	0.09310	N	1	P;P	0.43231	0.693;0.801	B;B	0.42282	0.382;0.382	T	0.72537	-0.4263	10	0.66056	D	0.02	.	5.3169	0.15860	0.1296:0.4076:0.3813:0.0815	.	256;220	Q9BQR3;B3KP25	PRS27_HUMAN;.	H	256;220	ENSP00000306390:Q256H	ENSP00000306390:Q256H	Q	-	3	2	PRSS27	2702727	0.000000	0.05858	0.920000	0.36463	0.389000	0.30415	-1.259000	0.02861	0.525000	0.28522	0.561000	0.74099	CAG	PRSS27	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000172382		0.682	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS27	HGNC	protein_coding	OTTHUMT00000250908.1	16	0.00	0	C	NM_031948		2762726	2762726	-1	no_errors	ENST00000302641	ensembl	human	known	69_37n	missense	14	51.72	15	SNP	0.001	G
PRTG	283659	genome.wustl.edu	37	15	55967747	55967747	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:55967747C>T	ENST00000389286.4	-	9	1563	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTCACATGGTCAGACATCTGG	0.348																																						dbGAP											0													84.0	81.0	82.0					15																	55967747		1894	4104	5998	-	-	-	SO:0001583	missense	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1516G>A	15.37:g.55967747C>T	ENSP00000373937:p.Asp506Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D506N	ENST00000389286.4	37	c.1516	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488695	0.64074	.	.	ENSG00000166450	ENST00000389286	T	0.54675	0.56	5.42	5.42	0.78866	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.329884	0.34802	N	0.003670	T	0.63153	0.2487	L	0.33189	0.99	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.60480	-0.7255	10	0.36615	T	0.2	-24.4579	18.2205	0.89899	0.0:1.0:0.0:0.0	.	506	Q2VWP7	PRTG_HUMAN	N	506	ENSP00000373937:D506N	ENSP00000373937:D506N	D	-	1	0	PRTG	53755039	1.000000	0.71417	0.484000	0.27391	0.307000	0.27823	7.629000	0.83207	2.541000	0.85698	0.655000	0.94253	GAC	PRTG	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000166450		0.348	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	28	0.00	0	C	NM_173814		55967747	55967747	-1	no_errors	ENST00000389286	ensembl	human	known	69_37n	missense	29	36.96	17	SNP	1.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79267494	79267494	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:79267494G>C	ENST00000376718.3	-	11	8585	c.8462C>G	c.(8461-8463)tCt>tGt	p.S2821C	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Missense_Mutation_p.S2462C|PRUNE2_ENST00000223609.6_Missense_Mutation_p.S85C|PRUNE2_ENST00000443509.2_Missense_Mutation_p.S70C	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2821					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						GTTATCATCAGAGAGAATAGA	0.423																																						dbGAP											0													246.0	228.0	233.0					9																	79267494		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.8462C>G	9.37:g.79267494G>C	ENSP00000365908:p.Ser2821Cys	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.S2462C	ENST00000376718.3	37	c.7385	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777721	0.90195	.	.	ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000223609;ENST00000422033	T;T;T;T;T	0.57107	0.58;0.44;0.42;0.62;0.61	5.6	5.6	0.85130	.	0.076219	0.56097	D	0.000031	T	0.75184	0.3815	M	0.77103	2.36	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.996;0.993;0.998;0.988;1.0	T	0.76228	-0.3036	10	0.62326	D	0.03	-18.8498	19.9659	0.97266	0.0:0.0:1.0:0.0	.	85;85;70;2821;2821	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3	.;.;.;.;PRUN2_HUMAN	C	85;2821;2462;39;70;85;2820	ENSP00000365907:S85C;ENSP00000365908:S2821C;ENSP00000397425:S2462C;ENSP00000393843:S70C;ENSP00000223609:S85C	ENSP00000223609:S85C	S	-	2	0	PRUNE2	78457314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.585000	0.90802	2.802000	0.96397	0.650000	0.86243	TCT	PRUNE2	-	pfam_Bcl2-/adenovirus-E1B	ENSG00000106772		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	62	0.00	0	G	NM_138818		79267494	79267494	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	85	27.97	33	SNP	1.000	C
PRUNE2	158471	genome.wustl.edu	37	9	79324579	79324579	+	Missense_Mutation	SNP	C	C	A	rs375627004		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:79324579C>A	ENST00000376718.3	-	8	2734	c.2611G>T	c.(2611-2613)Gac>Tac	p.D871Y	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D512Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	871					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						TCCCTGGAGTCATTGTTTTTC	0.418																																						dbGAP											0													111.0	96.0	101.0					9																	79324579		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.2611G>T	9.37:g.79324579C>A	ENSP00000365908:p.Asp871Tyr	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.D512Y	ENST00000376718.3	37	c.1534	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.394|6.394	0.440890|0.440890	0.12104|0.12104	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.46451|.	0.88;0.87|.	5.52|5.52	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.49916|.	D|.	0.000125|.	T|.	0.43433|.	0.1247|.	L|L	0.29908|0.29908	0.895|0.895	0.49299|0.49299	D|D	0.999777|0.999777	P|.	0.42692|.	0.787|.	B|.	0.36186|.	0.219|.	T|.	0.24404|.	-1.0161|.	10|.	0.27785|.	T|.	0.31|.	-19.6215|-19.6215	6.496|6.496	0.22142|0.22142	0.2736:0.639:0.0:0.0874|0.2736:0.639:0.0:0.0874	.|.	871|.	Q8WUY3|.	PRUN2_HUMAN|.	Y|L	871;512;870|192	ENSP00000365908:D871Y;ENSP00000397425:D512Y|.	ENSP00000365908:D871Y|.	D|X	-|-	1|2	0|2	PRUNE2|PRUNE2	78514399|78514399	0.029000|0.029000	0.19370|0.19370	0.949000|0.949000	0.38748|0.38748	0.100000|0.100000	0.18952|0.18952	0.891000|0.891000	0.28309|0.28309	2.604000|2.604000	0.88044|0.88044	0.462000|0.462000	0.41574|0.41574	GAC|TGA	PRUNE2	-	NULL	ENSG00000106772		0.418	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	57	0.00	0	C	NM_138818		79324579	79324579	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	85	29.75	36	SNP	0.663	A
PSG9	5678	genome.wustl.edu	37	19	43763217	43763217	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:43763217G>A	ENST00000270077.3	-	4	876	c.780C>T	c.(778-780)ttC>ttT	p.F260F	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Silent_p.F167F|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000418820.2_Silent_p.F167F|PSG9_ENST00000291752.5_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	260	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTTCACAGGTGAAGGCTAAGA	0.498																																						dbGAP											0													188.0	200.0	196.0					19																	43763217		2143	4279	6422	-	-	-	SO:0001819	synonymous_variant	0			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.780C>T	19.37:g.43763217G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set	p.S154L	ENST00000270077.3	37	c.461	CCDS12618.1	19	.	.	.	.	.	.	.	.	.	.	N	1.466	-0.561049	0.03939	.	.	ENSG00000183668	ENST00000418820	.	.	.	1.23	-2.45	0.06481	.	.	.	.	.	T	0.23330	0.0564	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31779	-0.9931	4	.	.	.	.	5.4026	0.16305	0.0:0.0:0.6258:0.3742	.	.	.	.	L	154	.	.	S	-	2	0	PSG9	48455057	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.542000	0.02196	-0.315000	0.08703	-1.210000	0.01631	TCA	PSG9	-	NULL	ENSG00000183668		0.498	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	154	0.00	0	G	NM_002784		43763217	43763217	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418820	ensembl	human	putative	69_37n	missense	119	22.73	35	SNP	0.001	A
PSMB5	5693	genome.wustl.edu	37	14	23504012	23504012	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:23504012G>T	ENST00000361611.6	-	1	342	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	PSMB5_ENST00000493471.2_Missense_Mutation_p.L27M|PSMB5_ENST00000425762.2_Intron|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000460922.2_Missense_Mutation_p.L27M	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	27					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)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	AGATCCAGCAGATCTGCACGA	0.592																																						dbGAP											0													59.0	55.0	56.0					14																	23504012		2203	4300	6503	-	-	-	SO:0001583	missense	0			D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.79C>A	14.37:g.23504012G>T	ENSP00000355325:p.Leu27Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.L27M	ENST00000361611.6	37	c.79	CCDS9584.1	14	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087111	0.36855	.	.	ENSG00000100804	ENST00000361611;ENST00000493471;ENST00000460922	T;T;T	0.55588	0.51;0.51;0.51	5.22	4.32	0.51571	.	0.768512	0.12023	N	0.506729	T	0.49064	0.1535	L	0.27053	0.805	0.80722	D	1	P;B	0.47677	0.899;0.38	P;B	0.51355	0.667;0.193	T	0.38351	-0.9665	10	0.45353	T	0.12	-11.8463	9.163	0.37035	0.1596:0.0:0.8404:0.0	.	27;27	P28074-2;P28074	.;PSB5_HUMAN	M	27	ENSP00000355325:L27M;ENSP00000452424:L27M;ENSP00000451286:L27M	ENSP00000334973:L27M	L	-	1	2	PSMB5	22573852	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	3.483000	0.53194	2.428000	0.82296	0.555000	0.69702	CTG	PSMB5	-	NULL	ENSG00000100804		0.592	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB5	HGNC	protein_coding	OTTHUMT00000071695.4	18	0.00	0	G	NM_002797		23504012	23504012	-1	no_errors	ENST00000361611	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	1.000	T
PSME4	23198	genome.wustl.edu	37	2	54150229	54150229	+	Silent	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:54150229G>C	ENST00000404125.1	-	16	1990	c.1935C>G	c.(1933-1935)ctC>ctG	p.L645L	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	645					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGGGAACAAAGAGCTTCAAAG	0.333																																						dbGAP											0													90.0	98.0	95.0					2																	54150229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1935C>G	2.37:g.54150229G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.L645	ENST00000404125.1	37	c.1935	CCDS33197.2	2																																																																																			PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.333	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	38	0.00	0	G	XM_040158		54150229	54150229	-1	no_errors	ENST00000404125	ensembl	human	known	69_37n	silent	61	32.97	30	SNP	0.078	C
PTCHD1	139411	genome.wustl.edu	37	X	23410824	23410824	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:23410824G>A	ENST00000379361.4	+	3	2049	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	397	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CACGAACATTGAGGCAGCCAG	0.483																																						dbGAP											0													126.0	108.0	114.0					X																	23410824		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1189G>A	X.37:g.23410824G>A	ENSP00000368666:p.Glu397Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.E397K	ENST00000379361.4	37	c.1189	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805106	0.70682	.	.	ENSG00000165186	ENST00000379361	D	0.85171	-1.95	5.32	5.32	0.75619	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	L	0.52573	1.65	0.54753	D	0.999987	B	0.30146	0.27	B	0.37304	0.246	D	0.84896	0.0839	10	0.66056	D	0.02	-21.071	18.3219	0.90241	0.0:0.0:1.0:0.0	.	397	Q96NR3	PTHD1_HUMAN	K	397	ENSP00000368666:E397K	ENSP00000368666:E397K	E	+	1	0	PTCHD1	23320745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.353000	0.79882	0.600000	0.82982	GAG	PTCHD1	-	pfam_Patched,pfscan_SSD	ENSG00000165186		0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	44	0.00	0	G	NM_173495		23410824	23410824	+1	no_errors	ENST00000379361	ensembl	human	known	69_37n	missense	35	28.57	14	SNP	1.000	A
PTEN	5728	genome.wustl.edu	37	10	89720709	89720709	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:89720709C>G	ENST00000371953.3	+	8	2217	c.860C>G	c.(859-861)tCa>tGa	p.S287*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	287	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.S287fs*8(1)|p.W274_F341del(1)|p.S287fs*1(1)|p.S287*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAGGAAACCTCAGAAAAAGTA	0.313		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	53	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(2)|Unknown(2)|Substitution - Nonsense(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											53.0	57.0	56.0					10																	89720709		2201	4295	6496	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.860C>G	10.37:g.89720709C>G	ENSP00000361021:p.Ser287*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S287*	ENST00000371953.3	37	c.860	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	48	14.349339	0.99791	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.13	5.13	0.70059	.	0.313296	0.30602	N	0.009272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.973	18.5632	0.91108	0.0:1.0:0.0:0.0	.	.	.	.	X	287	.	.	S	+	2	0	PTEN	89710689	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.976000	0.49289	2.399000	0.81585	0.591000	0.81541	TCA	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.313	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	42	0.00	0	C	NM_000314		89720709	89720709	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	nonsense	20	60.78	31	SNP	1.000	G
PTPN12	5782	genome.wustl.edu	37	7	77221500	77221501	+	Splice_Site	DEL	AG	AG	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:77221500_77221501delAG	ENST00000248594.6	+	6	692		c.e6-1		PTPN12_ENST00000435495.2_Splice_Site|PTPN12_ENST00000415482.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12						protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTTGGATGACAGAAAAAATGTG	0.317																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.421-1AG>-	7.37:g.77221500_77221501delAG		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Splice_Site	DEL	-	e6-1	ENST00000248594.6	37	c.421-2_421-1	CCDS5592.1	7																																																																																			PTPN12	-	-	ENSG00000127947		0.317	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	67	0.00	0	AG		Intron	77221500	77221501	+1	no_errors	ENST00000248594	ensembl	human	known	69_37n	splice_site_del	102	28.47	41	DEL	1.000:1.000	-
PTPN12	5782	genome.wustl.edu	37	7	77221500	77221501	+	Splice_Site	DEL	AG	AG	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:77221500_77221501delAG	ENST00000248594.6	+	6	692		c.e6-1		PTPN12_ENST00000435495.2_Splice_Site|PTPN12_ENST00000415482.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12						protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTTGGATGACAGAAAAAATGTG	0.317																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.421-1AG>-	7.37:g.77221500_77221501delAG		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Splice_Site	DEL	-	e6-1	ENST00000248594.6	37	c.421-2_421-1	CCDS5592.1	7																																																																																			PTPN12	-	-	ENSG00000127947		0.317	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	67	0	0	AG		Intron	77221500	77221501	+1	no_errors	ENST00000248594	ensembl	human	known	69_37n	splice_site_del	102	28.47	41	DEL	1.000:1.000	0
PTPRA	5786	genome.wustl.edu	37	20	2998481	2998481	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:2998481G>A	ENST00000216877.6	+	12	1336	c.936G>A	c.(934-936)gtG>gtA	p.V312V	PTPRA_ENST00000399903.2_Silent_p.V321V|PTPRA_ENST00000318266.5_Silent_p.V312V|PTPRA_ENST00000425918.2_Silent_p.V332V|PTPRA_ENST00000356147.3_Silent_p.V312V|PTPRA_ENST00000358719.4_Silent_p.V177V|PTPRA_ENST00000380393.3_Silent_p.V321V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	321	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGAAACGGTGAATGATTTCT	0.443																																						dbGAP											0													111.0	107.0	108.0					20																	2998481		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.936G>A	20.37:g.2998481G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V332	ENST00000216877.6	37	c.996	CCDS13039.1	20																																																																																			PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.443	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	49	0.00	0	G			2998481	2998481	+1	no_errors	ENST00000425918	ensembl	human	known	69_37n	silent	74	15.73	14	SNP	1.000	A
PTPRJ	5795	genome.wustl.edu	37	11	48166619	48166619	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:48166619G>A	ENST00000418331.2	+	14	3206	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	952					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						TGATGGGGCTGAGAGCTATGT	0.517																																						dbGAP											0													167.0	151.0	156.0					11																	48166619		2201	4298	6499	-	-	-	SO:0001583	missense	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.2854G>A	11.37:g.48166619G>A	ENSP00000400010:p.Glu952Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	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.E952K	ENST00000418331.2	37	c.2854	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346618	0.24426	.	.	ENSG00000149177	ENST00000418331	T	0.13538	2.58	5.41	1.46	0.22682	.	.	.	.	.	T	0.08268	0.0206	L	0.27053	0.805	0.24283	N	0.995197	B	0.22414	0.069	B	0.16722	0.016	T	0.39820	-0.9595	9	0.25751	T	0.34	.	5.0485	0.14496	0.266:0.1723:0.5617:0.0	.	952	Q12913	PTPRJ_HUMAN	K	952	ENSP00000400010:E952K	ENSP00000400010:E952K	E	+	1	0	PTPRJ	48123195	0.003000	0.15002	0.061000	0.19648	0.438000	0.31896	-0.195000	0.09546	0.014000	0.14944	0.655000	0.94253	GAG	PTPRJ	-	NULL	ENSG00000149177		0.517	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	72	0.00	0	G			48166619	48166619	+1	no_errors	ENST00000418331	ensembl	human	known	69_37n	missense	28	44.23	23	SNP	0.196	A
PXDNL	137902	genome.wustl.edu	37	8	52252213	52252213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:52252213G>A	ENST00000356297.4	-	21	4217	c.4117C>T	c.(4117-4119)Cag>Tag	p.Q1373*	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1373					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATGGTTTCCTGAATTTCCGCT	0.378																																						dbGAP											0													139.0	135.0	136.0					8																	52252213		1878	4101	5979	-	-	-	SO:0001587	stop_gained	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4117C>T	8.37:g.52252213G>A	ENSP00000348645:p.Gln1373*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.Q1373*	ENST00000356297.4	37	c.4117	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668992	0.67814	.	.	ENSG00000147485	ENST00000356297	.	.	.	4.79	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.2465	0.10674	0.1963:0.0:0.6225:0.1812	.	.	.	.	X	1373	.	ENSP00000348645:Q1373X	Q	-	1	0	PXDNL	52414766	0.314000	0.24563	0.311000	0.25182	0.041000	0.13682	0.111000	0.15458	0.099000	0.17552	0.591000	0.81541	CAG	PXDNL	-	NULL	ENSG00000147485		0.378	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	66	0.00	0	G	NM_144651		52252213	52252213	-1	no_errors	ENST00000356297	ensembl	human	known	69_37n	nonsense	92	32.35	44	SNP	0.838	A
QSER1	79832	genome.wustl.edu	37	11	32954474	32954474	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:32954474C>G	ENST00000399302.2	+	4	1618	c.1283C>G	c.(1282-1284)tCt>tGt	p.S428C	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	428	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)					AGTTACTCATCTGGTCACTCT	0.393																																						dbGAP											0													107.0	102.0	104.0					11																	32954474		1889	4110	5999	-	-	-	SO:0001583	missense	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.1283C>G	11.37:g.32954474C>G	ENSP00000382241:p.Ser428Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.S428C	ENST00000399302.2	37	c.1283	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709698	0.48517	.	.	ENSG00000060749	ENST00000399302	T	0.51071	0.72	4.73	4.73	0.59995	.	0.000000	0.41605	U	0.000846	T	0.65322	0.2680	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.68500	-0.5392	10	0.62326	D	0.03	.	18.0553	0.89362	0.0:1.0:0.0:0.0	.	428	Q2KHR3	QSER1_HUMAN	C	428	ENSP00000382241:S428C	ENSP00000382241:S428C	S	+	2	0	QSER1	32911050	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	5.693000	0.68264	2.348000	0.79779	0.467000	0.42956	TCT	QSER1	-	NULL	ENSG00000060749		0.393	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	27	0.00	0	C	NM_024774		32954474	32954474	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	missense	21	51.16	22	SNP	1.000	G
RAB11FIP3	9727	genome.wustl.edu	37	16	511410	511410	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:511410G>T	ENST00000262305.4	+	2	1109	c.721G>T	c.(721-723)Gac>Tac	p.D241Y	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.D241Y	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	241	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				ACAGGTGAAGGACTTAACTAA	0.532																																					Melanoma(160;2366 2595 4474 8099)	dbGAP											0													151.0	145.0	147.0					16																	511410		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.721G>T	16.37:g.511410G>T	ENSP00000262305:p.Asp241Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_HAND_2	p.D241Y	ENST00000262305.4	37	c.721	CCDS32351.1	16	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580239	0.28180	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585	T;T;T	0.72394	-0.65;-0.65;-0.65	5.41	5.41	0.78517	EF-hand-like domain (1);	.	.	.	.	T	0.76716	0.4026	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77935	-0.2401	9	0.56958	D	0.05	-31.4427	14.6968	0.69129	0.0:0.0:1.0:0.0	.	241	O75154	RFIP3_HUMAN	Y	241;241;117	ENSP00000262305:D241Y;ENSP00000398730:D241Y;ENSP00000399644:D117Y	ENSP00000262305:D241Y	D	+	1	0	RAB11FIP3	451411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.162000	0.89657	2.546000	0.85860	0.557000	0.71058	GAC	RAB11FIP3	-	NULL	ENSG00000090565		0.532	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	RAB11FIP3	HGNC	protein_coding	OTTHUMT00000109066.4	25	0.00	0	G	NM_014700		511410	511410	+1	no_errors	ENST00000457159	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	1.000	T
RAD9B	144715	genome.wustl.edu	37	12	110957611	110957611	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:110957611G>C	ENST00000409778.3	+	7	597	c.573G>C	c.(571-573)ttG>ttC	p.L191F	RAD9B_ENST00000409300.1_Missense_Mutation_p.L260F|RAD9B_ENST00000392672.4_Missense_Mutation_p.L260F|RAD9B_ENST00000409425.1_Missense_Mutation_p.L188F|RAD9B_ENST00000409246.1_Missense_Mutation_p.L188F			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	246					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						CTCTGGCTTTGAGTATTGATG	0.373																																						dbGAP											0													193.0	175.0	181.0					12																	110957611		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.573G>C	12.37:g.110957611G>C	ENSP00000386697:p.Leu191Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	pfam_Rad9,pirsf_Cell_cycle_RAD9	p.L260F	ENST00000409778.3	37	c.780		12	.	.	.	.	.	.	.	.	.	.	G	2.138	-0.397539	0.04899	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	5.65	0.35	0.16037	.	0.062472	0.64402	D	0.000005	T	0.07863	0.0197	N	0.02202	-0.64	0.36636	D	0.876586	B;B;B	0.32409	0.37;0.033;0.033	B;B;B	0.30316	0.114;0.017;0.03	T	0.37979	-0.9682	10	0.02654	T	1	-10.8376	5.9068	0.19006	0.4617:0.2676:0.2707:0.0	.	191;260;257	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	F	188;260;260;188;191	ENSP00000387329:L188F;ENSP00000376440:L260F;ENSP00000386434:L260F;ENSP00000386629:L188F;ENSP00000386697:L191F	ENSP00000376440:L260F	L	+	3	2	RAD9B	109441994	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	1.136000	0.31467	0.040000	0.15660	-0.294000	0.09567	TTG	RAD9B	-	pfam_Rad9,pirsf_Cell_cycle_RAD9	ENSG00000151164		0.373	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	RAD9B	HGNC	protein_coding	OTTHUMT00000404634.1	105	0.00	0	G	NM_152442		110957611	110957611	+1	no_errors	ENST00000392672	ensembl	human	known	69_37n	missense	115	17.27	24	SNP	1.000	C
RALGAPB	57148	genome.wustl.edu	37	20	37198601	37198601	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:37198601G>C	ENST00000262879.6	+	27	4309	c.4025G>C	c.(4024-4026)aGa>aCa	p.R1342T	RALGAPB_ENST00000397042.3_Missense_Mutation_p.R1339T|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R1121T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R1342T			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1342	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTGAGACAAGAGTTTCTGTA	0.463																																						dbGAP											0													107.0	91.0	97.0					20																	37198601		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4025G>C	20.37:g.37198601G>C	ENSP00000262879:p.Arg1342Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.R1342T	ENST00000262879.6	37	c.4025	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622636	0.66787	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25	5.64	4.6	0.57074	Rap/ran-GAP (1);	0.045636	0.85682	D	0.000000	D	0.84115	0.5401	N	0.14661	0.345	0.47341	D	0.999391	B;B	0.13145	0.007;0.007	B;B	0.20767	0.031;0.031	T	0.77933	-0.2402	10	0.49607	T	0.09	.	3.6851	0.08326	0.3409:0.0:0.6591:0.0	.	1339;1342	A2A2E9;Q86X10	.;RLGPB_HUMAN	T	1342;1339;1121;1342;1171	ENSP00000262879:R1342T;ENSP00000380235:R1339T;ENSP00000380231:R1121T;ENSP00000380233:R1342T;ENSP00000416646:R1171T	ENSP00000262879:R1342T	R	+	2	0	RALGAPB	36632015	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.444000	0.80532	2.664000	0.90586	0.655000	0.94253	AGA	RALGAPB	-	pfscan_Rap_GAP	ENSG00000170471		0.463	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	58	0.00	0	G	NM_020336		37198601	37198601	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	missense	54	19.40	13	SNP	1.000	C
RAPGEF1	2889	genome.wustl.edu	37	9	134463211	134463211	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:134463211C>T	ENST00000372189.3	-	19	2710	c.2587G>A	c.(2587-2589)Gag>Aag	p.E863K	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E881K|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.E880K	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	863	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGCAAAACCTCAGGAATCTAC	0.527																																						dbGAP											0													64.0	66.0	66.0					9																	134463211		1873	4096	5969	-	-	-	SO:0001583	missense	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2587G>A	9.37:g.134463211C>T	ENSP00000361263:p.Glu863Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E881K	ENST00000372189.3	37	c.2641	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.245052	0.95272	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000398415;ENST00000357686	T;T;T	0.56941	0.43;0.43;0.43	4.89	4.89	0.63831	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.81054	0.4743	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87463	0.2409	10	0.87932	D	0	.	17.0282	0.86453	0.0:1.0:0.0:0.0	.	863;881	Q13905;Q13905-3	RPGF1_HUMAN;.	K	863;880;809;863;881;843;841;308;880	ENSP00000361269:E880K;ENSP00000361263:E863K;ENSP00000361264:E881K	ENSP00000266110:E863K	E	-	1	0	RAPGEF1	133453032	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.439000	0.80444	2.233000	0.73108	0.561000	0.74099	GAG	RAPGEF1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000107263		0.527	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	63	0.00	0	C	NM_005312		134463211	134463211	-1	no_errors	ENST00000372190	ensembl	human	known	69_37n	missense	52	35.80	29	SNP	1.000	T
RASAL3	64926	genome.wustl.edu	37	19	15563608	15563608	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:15563608C>G	ENST00000343625.7	-	16	2774	c.2689G>C	c.(2689-2691)Gag>Cag	p.E897Q	WIZ_ENST00000389282.4_5'Flank|WIZ_ENST00000263381.7_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	897					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						GCGGCCACCTCGCACTGCAGC	0.657																																						dbGAP											0													17.0	21.0	20.0					19																	15563608		2137	4224	6361	-	-	-	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.2689G>C	19.37:g.15563608C>G	ENSP00000341905:p.Glu897Gln	Somatic		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.E897Q	ENST00000343625.7	37	c.2689	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	c	14.43	2.533527	0.45073	.	.	ENSG00000105122	ENST00000343625	D	0.84944	-1.92	3.56	3.56	0.40772	.	0.292176	0.24678	N	0.036492	T	0.75796	0.3898	L	0.32530	0.975	0.24770	N	0.992875	B	0.22276	0.067	B	0.20577	0.03	T	0.63042	-0.6725	10	0.28530	T	0.3	.	10.5137	0.44876	0.0:1.0:0.0:0.0	.	897	Q86YV0	RASL3_HUMAN	Q	897	ENSP00000341905:E897Q	ENSP00000341905:E897Q	E	-	1	0	RASAL3	15424608	0.928000	0.31464	0.994000	0.49952	0.972000	0.66771	1.331000	0.33793	1.820000	0.53075	0.586000	0.80456	GAG	RASAL3	-	NULL	ENSG00000105122		0.657	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	13	0.00	0	C	NM_022904		15563608	15563608	-1	no_errors	ENST00000343625	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	0.982	G
RASSF5	83593	genome.wustl.edu	37	1	206760244	206760244	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:206760244G>C	ENST00000355294.4	+	6	1248	c.1191G>C	c.(1189-1191)aaG>aaC	p.K397N	RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000304534.8_Missense_Mutation_p.K244N	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	397	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGTGCAAAAGAAGTATGACA	0.498																																					GBM(162;656 1984 11916 22872 31529)	dbGAP											0													110.0	111.0	110.0					1																	206760244		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1191G>C	1.37:g.206760244G>C	ENSP00000347443:p.Lys397Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.K397N	ENST00000355294.4	37	c.1191	CCDS30998.1	1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385265	0.42308	.	.	ENSG00000136653	ENST00000355294;ENST00000304534	T;T	0.12361	3.04;2.69	5.82	3.94	0.45596	SARAH (1);	0.196194	0.53938	D	0.000047	T	0.11281	0.0275	L	0.33485	1.01	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.07083	-1.0791	10	0.41790	T	0.15	-24.6076	11.7577	0.51884	0.1434:0.0:0.8566:0.0	.	244;397	Q8WWW0-2;Q8WWW0	.;RASF5_HUMAN	N	397;244	ENSP00000347443:K397N;ENSP00000306091:K244N	ENSP00000306091:K244N	K	+	3	2	RASSF5	204826867	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.850000	0.39328	1.452000	0.47756	0.655000	0.94253	AAG	RASSF5	-	pfscan_SARAH	ENSG00000136653		0.498	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1	46	0.00	0	G	NM_031437		206760244	206760244	+1	no_errors	ENST00000355294	ensembl	human	known	69_37n	missense	150	13.79	24	SNP	1.000	C
RBM17	84991	genome.wustl.edu	37	10	6146916	6146916	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:6146916C>G	ENST00000446108.1	+	4	907	c.263C>G	c.(262-264)tCt>tGt	p.S88C	RBM17_ENST00000379888.4_Missense_Mutation_p.S88C	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	88					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGTGGGTTTTCTGCAGGGGAA	0.428																																						dbGAP											0													124.0	123.0	124.0					10																	6146916		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.263C>G	10.37:g.6146916C>G	ENSP00000388638:p.Ser88Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96GY6	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom	p.S88C	ENST00000446108.1	37	c.263	CCDS7077.1	10	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364626	0.82463	.	.	ENSG00000134453	ENST00000372795;ENST00000379888;ENST00000437845;ENST00000432931;ENST00000446108;ENST00000418631	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	P	0.55824	0.785	T	0.53450	-0.8437	10	0.37606	T	0.19	-19.5115	19.5743	0.95436	0.0:1.0:0.0:0.0	.	88	Q96I25	SPF45_HUMAN	C	56;88;56;88;88;88	ENSP00000369218:S88C;ENSP00000408214:S88C;ENSP00000388638:S88C;ENSP00000402303:S88C	ENSP00000361881:S56C	S	+	2	0	RBM17	6186922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.570000	0.82390	2.699000	0.92147	0.563000	0.77884	TCT	RBM17	-	pirsf_Splicing_factor_SPF45	ENSG00000134453		0.428	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM17	HGNC	protein_coding	OTTHUMT00000046635.1	69	0.00	0	C	NM_032905		6146916	6146916	+1	no_errors	ENST00000379888	ensembl	human	known	69_37n	missense	56	54.84	68	SNP	1.000	G
RBM27	54439	genome.wustl.edu	37	5	145610304	145610304	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:145610304C>G	ENST00000265271.5	+	6	840	c.674C>G	c.(673-675)tCt>tGt	p.S225C	RBM27_ENST00000506502.1_Missense_Mutation_p.S225C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	225					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCAAACTCTTCTGAGCAG	0.473																																						dbGAP											0													131.0	115.0	120.0					5																	145610304		1568	3582	5150	-	-	-	SO:0001583	missense	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.674C>G	5.37:g.145610304C>G	ENSP00000265271:p.Ser225Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYW9	Missense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.S225C	ENST00000265271.5	37	c.674	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893194	0.72524	.	.	ENSG00000091009	ENST00000265271	T	0.49139	0.79	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.51041	0.1651	L	0.50333	1.59	0.44000	D	0.996703	D;D	0.58620	0.983;0.983	B;P	0.50231	0.431;0.635	T	0.51841	-0.8654	10	0.52906	T	0.07	-12.0619	12.6159	0.56576	0.0:0.9244:0.0:0.0756	.	225;225	Q9P2N5;B3KY61	RBM27_HUMAN;.	C	225	ENSP00000265271:S225C	ENSP00000265271:S225C	S	+	2	0	RBM27	145590497	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.048000	0.64238	2.561000	0.86390	0.563000	0.77884	TCT	RBM27	-	NULL	ENSG00000091009		0.473	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	37	0.00	0	C	XM_291128		145610304	145610304	+1	no_errors	ENST00000265271	ensembl	human	known	69_37n	missense	48	24.62	16	SNP	1.000	G
MFSD3	113655	genome.wustl.edu	37	8	145737119	145737119	+	IGR	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:145737119C>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Silent_p.L1149L|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTCTGGCCTCAGGGACAGGA	0.672																																						dbGAP											0													66.0	79.0	75.0					8																	145737119		2162	4256	6418	-	-	-	SO:0001628	intergenic_variant	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145737119C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000301327.4	37	NULL	CCDS6431.1	8																																																																																			RECQL4	-	-	ENSG00000160957		0.672	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	HGNC	protein_coding	OTTHUMT00000382478.2	13	0.00	0	C	NM_138431		145737119	145737119	-1	no_errors	ENST00000301323	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	0.407	A
RFC1	5981	genome.wustl.edu	37	4	39322978	39322979	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	TC	TC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:39322978_39322979delTC	ENST00000381897.1	-	8	869_870	c.736_737delGA	c.(736-738)gaafs	p.E246fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.E246fs|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	246					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCTCCCGCTTCTGTGTCCTTT	0.302																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.736_737delGA	4.37:g.39322978_39322979delTC	ENSP00000371321:p.Glu246fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Del	DEL	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.E246fs	ENST00000381897.1	37	c.737_736	CCDS56329.1	4																																																																																			RFC1	-	pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.302	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	98	0.00	0	TC	NM_002913		39322978	39322979	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	frame_shift_del	109	19.12	26	DEL	1.000:0.998	-
RFTN2	130132	genome.wustl.edu	37	2	198540114	198540114	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:198540114C>T	ENST00000295049.4	-	1	605	c.69G>A	c.(67-69)ctG>ctA	p.L23L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	23					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GCGGTCTCTTCAGGGTAGAAA	0.378																																						dbGAP											0													143.0	153.0	150.0					2																	198540114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.69G>A	2.37:g.198540114C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	NULL	p.L23	ENST00000295049.4	37	c.69	CCDS2323.1	2																																																																																			RFTN2	-	NULL	ENSG00000162944		0.378	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFTN2	HGNC	protein_coding	OTTHUMT00000256106.2	72	0.00	0	C	NM_144629		198540114	198540114	-1	no_errors	ENST00000295049	ensembl	human	known	69_37n	silent	122	26.51	44	SNP	1.000	T
RFWD3	55159	genome.wustl.edu	37	16	74695104	74695104	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:74695104C>G	ENST00000361070.4	-	2	341	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	RFWD3_ENST00000571750.1_Missense_Mutation_p.E82Q	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	82					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						ACCTCCACTTCTGTCAGGTCA	0.542																																						dbGAP											0													145.0	108.0	120.0					16																	74695104		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.244G>C	16.37:g.74695104C>G	ENSP00000354361:p.Glu82Gln	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.E82Q	ENST00000361070.4	37	c.244	CCDS32486.1	16	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929734	0.73327	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.28666	1.6	4.43	2.35	0.29111	.	0.070655	0.53938	D	0.000052	T	0.50820	0.1638	M	0.71581	2.175	0.09310	N	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.39840	-0.9594	10	0.87932	D	0	-22.3134	10.6646	0.45723	0.0:0.6219:0.3781:0.0	.	82	Q6PCD5	RFWD3_HUMAN	Q	82	ENSP00000354361:E82Q	ENSP00000354361:E82Q	E	-	1	0	RFWD3	73252605	0.103000	0.21917	0.235000	0.24058	0.590000	0.36582	1.145000	0.31577	0.541000	0.28827	0.655000	0.94253	GAA	RFWD3	-	NULL	ENSG00000168411		0.542	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	HGNC	protein_coding	OTTHUMT00000436506.2	43	0.00	0	C	NM_018124		74695104	74695104	-1	no_errors	ENST00000361070	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	0.371	G
RIPK2	8767	genome.wustl.edu	37	8	90802357	90802357	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:90802357G>C	ENST00000220751.4	+	11	1650	c.1336G>C	c.(1336-1338)Gac>Cac	p.D446H	RIPK2_ENST00000540020.1_Missense_Mutation_p.D309H	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	446	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|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)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CAAAAGGGAAGACATTGTGAA	0.438																																						dbGAP											0													87.0	90.0	89.0					8																	90802357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1336G>C	8.37:g.90802357G>C	ENSP00000220751:p.Asp446His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z748|Q6UWF0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D446H	ENST00000220751.4	37	c.1336	CCDS6247.1	8	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289304	0.80914	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.20200	2.09;2.09	5.77	5.77	0.91146	DEATH-like (2);Caspase Recruitment (3);	0.155051	0.29565	N	0.011784	T	0.26448	0.0646	N	0.14661	0.345	0.32578	N	0.52885	P	0.43633	0.813	P	0.53224	0.721	T	0.17048	-1.0382	10	0.66056	D	0.02	-2.0622	18.1786	0.89769	0.0:0.0:1.0:0.0	.	446	O43353	RIPK2_HUMAN	H	446;309	ENSP00000220751:D446H;ENSP00000441623:D309H	ENSP00000220751:D446H	D	+	1	0	RIPK2	90871498	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	5.324000	0.65863	2.729000	0.93468	0.655000	0.94253	GAC	RIPK2	-	pfam_CARD,superfamily_DEATH-like,pirsf_Rcpt-int_Ser/Thr_kinase-2,pfscan_CARD	ENSG00000104312		0.438	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK2	HGNC	protein_coding	OTTHUMT00000375686.1	31	0.00	0	G			90802357	90802357	+1	no_errors	ENST00000220751	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	C
RNF130	55819	genome.wustl.edu	37	5	179405246	179405246	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:179405246C>G	ENST00000261947.4	-	5	1203	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	RNF130_ENST00000521389.1_Missense_Mutation_p.E269Q|RNF130_ENST00000522208.2_Missense_Mutation_p.E269Q	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTATAGCTCTCTATGCAGACT	0.388																																					GBM(24;432 554 38471 39699 51728)	dbGAP											0													137.0	121.0	127.0					5																	179405246		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.805G>C	5.37:g.179405246C>G	ENSP00000261947:p.Glu269Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E269Q	ENST00000261947.4	37	c.805		5	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012122	0.93346	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.43688	0.94;0.94;0.94	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.62034	-0.6939	10	0.87932	D	0	.	19.6629	0.95879	0.0:1.0:0.0:0.0	.	286;269	Q59EL1;Q86XS8	.;GOLI_HUMAN	Q	269	ENSP00000429509:E269Q;ENSP00000430237:E269Q;ENSP00000261947:E269Q	ENSP00000261947:E269Q	E	-	1	0	RNF130	179337852	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.886000	0.75611	2.821000	0.97095	0.561000	0.74099	GAG	RNF130	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000113269		0.388	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	RNF130	HGNC	protein_coding	OTTHUMT00000374205.1	46	0.00	0	C	NM_018434		179405246	179405246	-1	no_errors	ENST00000521389	ensembl	human	known	69_37n	missense	60	36.46	35	SNP	1.000	G
RNF40	9810	genome.wustl.edu	37	16	30778098	30778098	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:30778098G>C	ENST00000324685.6	+	11	1765	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	RNF40_ENST00000563683.1_Missense_Mutation_p.E404Q|RNF40_ENST00000402121.3_Missense_Mutation_p.E136Q|RNF40_ENST00000357890.5_Missense_Mutation_p.E344Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	444					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCTACGCACAGAGGTCATTCA	0.587																																						dbGAP											0													70.0	49.0	56.0					16																	30778098		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1330G>C	16.37:g.30778098G>C	ENSP00000325677:p.Glu444Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E444Q	ENST00000324685.6	37	c.1330	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.238605	0.95240	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.32023	1.47;1.47;1.47	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.998;0.998	T	0.62859	-0.6765	10	0.59425	D	0.04	-14.654	19.4154	0.94694	0.0:0.0:1.0:0.0	.	136;344;444;444	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	Q	444;344;136	ENSP00000325677:E444Q;ENSP00000350563:E344Q;ENSP00000384942:E136Q	ENSP00000325677:E444Q	E	+	1	0	RNF40	30685599	1.000000	0.71417	0.986000	0.45419	0.934000	0.57294	9.164000	0.94755	2.884000	0.98904	0.655000	0.94253	GAG	RNF40	-	NULL	ENSG00000103549		0.587	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	21	0.00	0	G	NM_014771		30778098	30778098	+1	no_errors	ENST00000324685	ensembl	human	known	69_37n	missense	28	36.36	16	SNP	1.000	C
RNF6	6049	genome.wustl.edu	37	13	26793747	26793747	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:26793747C>G	ENST00000381588.4	-	3	792	c.40G>C	c.(40-42)Gaa>Caa	p.E14Q	RNF6_ENST00000346166.3_Missense_Mutation_p.E14Q|RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000381570.3_Missense_Mutation_p.E14Q	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	14					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GGTAAGGTTTCTTCACTGCCA	0.398																																						dbGAP											0													216.0	207.0	210.0					13																	26793747		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.40G>C	13.37:g.26793747C>G	ENSP00000371000:p.Glu14Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E14Q	ENST00000381588.4	37	c.40	CCDS9316.1	13	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838389	0.32513	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.07216	3.21;3.21;3.21	5.08	3.2	0.36748	.	0.214881	0.32134	N	0.006534	T	0.07234	0.0183	L	0.39898	1.24	0.80722	D	1	B;B	0.20671	0.005;0.047	B;B	0.20184	0.008;0.028	T	0.16571	-1.0398	10	0.10636	T	0.68	-13.5782	12.4959	0.55927	0.0:0.5027:0.4973:0.0	.	14;14	Q9Y252;Q9BZP5	RNF6_HUMAN;.	Q	14	ENSP00000342121:E14Q;ENSP00000371000:E14Q;ENSP00000370982:E14Q	ENSP00000342121:E14Q	E	-	1	0	RNF6	25691747	0.996000	0.38824	0.952000	0.39060	0.788000	0.44548	2.264000	0.43302	1.301000	0.44836	0.655000	0.94253	GAA	RNF6	-	NULL	ENSG00000127870		0.398	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	73	0.00	0	C	NM_005977		26793747	26793747	-1	no_errors	ENST00000346166	ensembl	human	known	69_37n	missense	30	62.96	51	SNP	0.990	G
ROBO3	64221	genome.wustl.edu	37	11	124739879	124739879	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:124739879C>G	ENST00000397801.1	+	4	873	c.681C>G	c.(679-681)ctC>ctG	p.L227L	ROBO3_ENST00000538940.1_Silent_p.L205L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	227	Ig-like C2-type 2.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CACATACACTCAAGAGCGATG	0.493																																						dbGAP											0													76.0	83.0	81.0					11																	124739879		2056	4220	6276	-	-	-	SO:0001819	synonymous_variant	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.681C>G	11.37:g.124739879C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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.L227	ENST00000397801.1	37	c.681	CCDS44755.1	11																																																																																			ROBO3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154134		0.493	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	61	0.00	0	C	XM_370663		124739879	124739879	+1	no_errors	ENST00000397801	ensembl	human	known	69_37n	silent	38	47.30	35	SNP	0.137	G
RSPH6A	81492	genome.wustl.edu	37	19	46307901	46307901	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:46307901G>C	ENST00000221538.3	-	3	1404	c.1262C>G	c.(1261-1263)tCa>tGa	p.S421*	RSPH6A_ENST00000597055.1_Nonsense_Mutation_p.S421*|RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.S157*	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	421						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						GTTGGCGCCTGAGCGGCTCTC	0.652																																						dbGAP											0													65.0	58.0	61.0					19																	46307901		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.1262C>G	19.37:g.46307901G>C	ENSP00000221538:p.Ser421*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FE2|Q6PEZ9	Nonsense_Mutation	SNP	pfam_Radial_spoke	p.S421*	ENST00000221538.3	37	c.1262	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.539651	0.96474	.	.	ENSG00000104941	ENST00000221538	.	.	.	4.03	-0.957	0.10350	.	0.321403	0.31859	N	0.006944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.7788	4.0838	0.09939	0.0904:0.3022:0.4618:0.1456	.	.	.	.	X	421	.	ENSP00000221538:S421X	S	-	2	0	RSPH6A	50999741	0.959000	0.32827	0.002000	0.10522	0.971000	0.66376	3.551000	0.53698	-0.023000	0.13963	0.456000	0.33151	TCA	RSPH6A	-	pfam_Radial_spoke	ENSG00000104941		0.652	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	38	0.00	0	G			46307901	46307901	-1	no_errors	ENST00000221538	ensembl	human	known	69_37n	nonsense	21	22.22	6	SNP	0.050	C
SAGE1	55511	genome.wustl.edu	37	X	134993410	134993410	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:134993410G>C	ENST00000370709.3	+	16	2065	c.2065G>C	c.(2065-2067)Gat>Cat	p.D689H	SAGE1_ENST00000324447.3_Missense_Mutation_p.D689H|SAGE1_ENST00000537770.1_Missense_Mutation_p.D313H|SAGE1_ENST00000535938.1_Missense_Mutation_p.D689H			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	689						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACAGGCACCTGATAACTCCTT	0.458																																						dbGAP											0													162.0	128.0	139.0					X																	134993410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2065G>C	X.37:g.134993410G>C	ENSP00000359743:p.Asp689His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JNW0	Missense_Mutation	SNP	NULL	p.D689H	ENST00000370709.3	37	c.2065	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	G	8.512	0.866674	0.17250	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.35048	1.37;1.37;1.33;1.37	1.59	1.59	0.23543	.	7.009170	0.01585	U	0.021287	T	0.35038	0.0918	L	0.27053	0.805	0.09310	N	1	P;P	0.40032	0.516;0.699	B;P	0.45856	0.187;0.495	T	0.35276	-0.9795	10	0.66056	D	0.02	.	5.9812	0.19409	0.0:0.0:1.0:0.0	.	313;689	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	H	689;689;313;689	ENSP00000323191:D689H;ENSP00000445959:D689H;ENSP00000438276:D313H;ENSP00000359743:D689H	ENSP00000323191:D689H	D	+	1	0	SAGE1	134821076	0.621000	0.27077	0.059000	0.19551	0.023000	0.10783	0.971000	0.29396	1.055000	0.40461	0.179000	0.17066	GAT	SAGE1	-	NULL	ENSG00000181433		0.458	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	48	0.00	0	G	NM_018666		134993410	134993410	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	missense	63	32.98	31	SNP	0.057	C
SASS6	163786	genome.wustl.edu	37	1	100550983	100550983	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:100550983C>T	ENST00000287482.5	-	17	2015	c.1875G>A	c.(1873-1875)caG>caA	p.Q625Q	RP4-714D9.2_ENST00000432294.1_RNA|SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.Q458Q	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	625					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TGCCATCTCTCTGATGGTCTG	0.388																																						dbGAP											0													139.0	140.0	140.0					1																	100550983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1875G>A	1.37:g.100550983C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT55|Q8N3K0	Silent	SNP	NULL	p.Q625	ENST00000287482.5	37	c.1875	CCDS764.1	1																																																																																			SASS6	-	NULL	ENSG00000156876		0.388	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	50	0.00	0	C	NM_194292		100550983	100550983	-1	no_errors	ENST00000287482	ensembl	human	known	69_37n	silent	51	32.00	24	SNP	1.000	T
SCAF4	57466	genome.wustl.edu	37	21	33078619	33078619	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:33078619G>C	ENST00000286835.7	-	2	464	c.82C>G	c.(82-84)Ctc>Gtc	p.L28V	SCAF4_ENST00000399804.1_Missense_Mutation_p.L28V|SCAF4_ENST00000434667.3_Missense_Mutation_p.L28V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	28	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTAGTGATGAGAATCATCTTG	0.274																																						dbGAP											0													37.0	39.0	38.0					21																	33078619		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.82C>G	21.37:g.33078619G>C	ENSP00000286835:p.Leu28Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.L28V	ENST00000286835.7	37	c.82	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655025	0.29425	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.42900	0.96;0.96;0.96	5.8	5.8	0.92144	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);	0.184300	0.46442	D	0.000295	T	0.42177	0.1191	N	0.22421	0.69	0.45676	D	0.998594	P;P;D;P	0.56035	0.956;0.956;0.974;0.956	B;B;P;B	0.50659	0.444;0.444;0.647;0.444	T	0.08953	-1.0697	10	0.26408	T	0.33	-14.5192	19.669	0.95903	0.0:0.0:1.0:0.0	.	28;28;28;28	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	V	28	ENSP00000402377:L28V;ENSP00000286835:L28V;ENSP00000382703:L28V	ENSP00000286835:L28V	L	-	1	0	SCAF4	32000490	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	6.275000	0.72594	2.741000	0.93983	0.650000	0.86243	CTC	SCAF4	-	superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	ENSG00000156304		0.274	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	21	0.00	0	G	XM_047889		33078619	33078619	-1	no_errors	ENST00000286835	ensembl	human	known	69_37n	missense	50	36.71	29	SNP	1.000	C
SCN8A	6334	genome.wustl.edu	37	12	52093557	52093557	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:52093557G>C	ENST00000354534.6	+	7	1088	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	SCN8A_ENST00000545061.1_Missense_Mutation_p.E304Q|SCN8A_ENST00000550891.1_Missense_Mutation_p.E304Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	304					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGATTGGGAAGAGTATATCAA	0.433																																						dbGAP											0													76.0	70.0	72.0					12																	52093557		1883	4131	6014	-	-	-	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.910G>C	12.37:g.52093557G>C	ENSP00000346534:p.Glu304Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E304Q	ENST00000354534.6	37	c.910	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462350	0.63513	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.96168	-3.84;-3.88;-3.85;-3.7;-3.93	4.82	4.82	0.62117	Ion transport (1);	0.190158	0.36703	N	0.002460	D	0.95506	0.8540	L	0.43152	1.355	0.80722	D	1	P;B;B;D	0.63880	0.939;0.244;0.336;0.993	P;B;B;P	0.55713	0.584;0.348;0.176;0.782	D	0.94571	0.7771	10	0.36615	T	0.2	.	18.4707	0.90773	0.0:0.0:1.0:0.0	.	304;304;304;304	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	Q	304;304;304;304;217;102	ENSP00000448415:E304Q;ENSP00000346534:E304Q;ENSP00000440360:E304Q;ENSP00000347255:E304Q;ENSP00000447567:E102Q	ENSP00000346534:E304Q	E	+	1	0	SCN8A	50379824	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.759000	0.62227	2.666000	0.90696	0.655000	0.94253	GAG	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.433	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	45	0.00	0	G	NM_014191		52093557	52093557	+1	no_errors	ENST00000354534	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	1.000	C
SCYL1	57410	genome.wustl.edu	37	11	65293615	65293615	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:65293615C>G	ENST00000270176.5	+	4	473	c.396C>G	c.(394-396)gtC>gtG	p.V132V	SCYL1_ENST00000524944.1_Silent_p.V132V|SCYL1_ENST00000533862.1_Silent_p.V132V|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000420247.2_Silent_p.V132V|SCYL1_ENST00000279270.6_Silent_p.V132V|SCYL1_ENST00000525364.1_Silent_p.V132V	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GCTTCCTGGTCAACGACTGCA	0.617																																						dbGAP											0													32.0	39.0	37.0					11																	65293615		2040	4182	6222	-	-	-	SO:0001819	synonymous_variant	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.396C>G	11.37:g.65293615C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.V132	ENST00000270176.5	37	c.396	CCDS41672.1	11																																																																																			SCYL1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000142186		0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	20	0.00	0	C	NM_020680		65293615	65293615	+1	no_errors	ENST00000270176	ensembl	human	known	69_37n	silent	14	26.32	5	SNP	0.995	G
SEMA3C	10512	genome.wustl.edu	37	7	80394494	80394494	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:80394494G>A	ENST00000265361.3	-	13	1981	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	SEMA3C_ENST00000419255.2_Silent_p.L474L|SEMA3C_ENST00000544525.1_Silent_p.L492L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	474	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCTCCTCCAGAATGAGCTCG	0.388																																						dbGAP											0													79.0	79.0	79.0					7																	80394494		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1420C>T	7.37:g.80394494G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL8	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_I-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.L492	ENST00000265361.3	37	c.1474	CCDS5596.1	7																																																																																			SEMA3C	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000075223		0.388	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3C	HGNC	protein_coding	OTTHUMT00000253279.1	34	0.00	0	G	NM_006379		80394494	80394494	-1	no_errors	ENST00000544525	ensembl	human	known	69_37n	silent	48	22.58	14	SNP	1.000	A
SERPINA1	5265	genome.wustl.edu	37	14	94849257	94849257	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:94849257G>A	ENST00000448921.1	-	4	890	c.318C>T	c.(316-318)ttC>ttT	p.F106F	SERPINA1_ENST00000402629.1_Silent_p.F106F|SERPINA1_ENST00000393087.4_Silent_p.F106F|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000440909.1_Silent_p.F106F|SERPINA1_ENST00000355814.4_Silent_p.F106F|SERPINA1_ENST00000437397.1_Silent_p.F106F|SERPINA1_ENST00000393088.4_Silent_p.F106F|SERPINA1_ENST00000449399.3_Silent_p.F106F|SERPINA1_ENST00000404814.4_Silent_p.F106F	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	106					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCGTGAGGTTGAAATTCAGGC	0.562																																						dbGAP											0													72.0	71.0	71.0					14																	94849257		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.318C>T	14.37:g.94849257G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.F106	ENST00000448921.1	37	c.318	CCDS9925.1	14																																																																																			SERPINA1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000197249		0.562	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	HGNC	protein_coding	OTTHUMT00000317768.2	44	0.00	0	G	NM_001002235		94849257	94849257	-1	no_errors	ENST00000355814	ensembl	human	known	69_37n	silent	16	61.36	27	SNP	1.000	A
SERPINE1	5054	genome.wustl.edu	37	7	100773722	100773723	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:100773722_100773723insA	ENST00000223095.4	+	3	449_450	c.292_293insA	c.(292-294)ctcfs	p.L98fs	SERPINE1_ENST00000445463.2_Frame_Shift_Ins_p.L83fs	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	98					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGCCCCCGCCCTCCGGCATCTG	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	Exception_encountered	7.37:g.100773722_100773723insA	ENSP00000223095:p.Leu98fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4S0|F8WD53	Frame_Shift_Ins	INS	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L98fs	ENST00000223095.4	37	c.292_293	CCDS5711.1	7																																																																																			SERPINE1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000106366		0.604	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINE1	HGNC	protein_coding	OTTHUMT00000347458.1	16	0.00	0	-	NM_000602		100773722	100773723	+1	no_errors	ENST00000223095	ensembl	human	known	69_37n	frame_shift_ins	23	25.81	8	INS	0.984:0.986	A
SETD1A	9739	genome.wustl.edu	37	16	30977153	30977153	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:30977153C>G	ENST00000262519.8	+	8	2637	c.1951C>G	c.(1951-1953)Cca>Gca	p.P651A		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	651	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						CCCACCTCCTCCACCACCCCC	0.627																																						dbGAP											0													42.0	41.0	41.0					16																	30977153		2197	4300	6497	-	-	-	SO:0001583	missense	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.1951C>G	16.37:g.30977153C>G	ENSP00000262519:p.Pro651Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	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.P651A	ENST00000262519.8	37	c.1951	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873152	0.33069	.	.	ENSG00000099381	ENST00000262519	D	0.94723	-3.5	4.26	4.26	0.50523	.	0.146393	0.45867	D	0.000334	D	0.90971	0.7161	L	0.49126	1.545	0.36722	D	0.881233	B	0.20261	0.043	B	0.19946	0.027	D	0.89982	0.4101	10	0.72032	D	0.01	.	7.9195	0.29837	0.0:0.8897:0.0:0.1103	.	651	O15047	SET1A_HUMAN	A	651	ENSP00000262519:P651A	ENSP00000262519:P651A	P	+	1	0	SETD1A	30884654	0.997000	0.39634	0.991000	0.47740	0.923000	0.55619	5.428000	0.66489	2.216000	0.71823	0.655000	0.94253	CCA	SETD1A	-	NULL	ENSG00000099381		0.627	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	10	0.00	0	C	NM_014712		30977153	30977153	+1	no_errors	ENST00000262519	ensembl	human	known	69_37n	missense	3	57.14	4	SNP	1.000	G
SETD3	84193	genome.wustl.edu	37	14	99924822	99924822	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:99924822G>T	ENST00000331768.5	-	6	628	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	SETD3_ENST00000329331.3_Missense_Mutation_p.L157M|SETD3_ENST00000436070.2_Missense_Mutation_p.L157M|SETD3_ENST00000453938.1_5'UTR	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	157	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TGAAAGGCCAGTGCGATGTTT	0.458																																						dbGAP											0													95.0	97.0	96.0					14																	99924822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.469C>A	14.37:g.99924822G>T	ENSP00000327436:p.Leu157Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.L157M	ENST00000331768.5	37	c.469	CCDS9951.1	14	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209994	0.79240	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.21734	1.99;1.99;1.99	5.37	4.46	0.54185	SET domain (1);	0.000000	0.64402	D	0.000002	T	0.45296	0.1335	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.991;0.991;1.0	T	0.42632	-0.9440	10	0.87932	D	0	-23.7046	11.1956	0.48711	0.1387:0.0:0.8613:0.0	.	157;157;157	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	M	157	ENSP00000327436:L157M;ENSP00000327910:L157M;ENSP00000408602:L157M	ENSP00000327910:L157M	L	-	1	2	SETD3	98994575	1.000000	0.71417	0.960000	0.40013	0.989000	0.77384	4.453000	0.60061	2.663000	0.90544	0.557000	0.71058	CTG	SETD3	-	pfam_SET_dom	ENSG00000183576		0.458	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3	59	0.00	0	G	NM_032233		99924822	99924822	-1	no_errors	ENST00000331768	ensembl	human	known	69_37n	missense	40	44.44	32	SNP	0.996	T
SF3B5	83443	genome.wustl.edu	37	6	144416385	144416385	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:144416385C>G	ENST00000367569.2	-	1	369	c.250G>C	c.(250-252)Gag>Cag	p.E84Q		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		CAGTTCTCCTCGGGCTTGTCG	0.552																																						dbGAP											0													104.0	106.0	105.0					6																	144416385		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.250G>C	6.37:g.144416385C>G	ENSP00000356541:p.Glu84Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R568|Q7RTV1	Missense_Mutation	SNP	pfam_SF3b5/RDS3-10,pirsf_Splicing_factor_3B_subunit_5	p.E84Q	ENST00000367569.2	37	c.250	CCDS5204.1	6	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199377	0.79015	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.95	5.08	0.68730	.	0.147273	0.64402	D	0.000012	T	0.33990	0.0882	.	.	.	0.58432	D	0.999993	B	0.32203	0.36	B	0.22601	0.04	T	0.39078	-0.9631	8	0.59425	D	0.04	-15.2314	14.7786	0.69749	0.0:0.9303:0.0:0.0697	.	84	Q9BWJ5	SF3B5_HUMAN	Q	84	.	ENSP00000356541:E84Q	E	-	1	0	SF3B5	144458078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.631000	0.83237	1.523000	0.49018	0.655000	0.94253	GAG	SF3B5	-	pirsf_Splicing_factor_3B_subunit_5	ENSG00000169976		0.552	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B5	HGNC	protein_coding	OTTHUMT00000042537.1	47	0.00	0	C	NM_031287		144416385	144416385	-1	no_errors	ENST00000367569	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	1.000	G
SGSM1	129049	genome.wustl.edu	37	22	25315804	25315804	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:25315804G>A	ENST00000400359.4	+	25	3209	c.3202G>A	c.(3202-3204)Gat>Aat	p.D1068N	SGSM1_ENST00000400358.4_Missense_Mutation_p.D1013N	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1068	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACTCGTCTATGATGACGTCTT	0.567																																						dbGAP											0													101.0	100.0	100.0					22																	25315804		2069	4208	6277	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3202G>A	22.37:g.25315804G>A	ENSP00000383212:p.Asp1068Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.D1068N	ENST00000400359.4	37	c.3202	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	g	21.3	4.130787	0.77549	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.23552	1.9;1.9	5.63	5.63	0.86233	Rab-GAP/TBC domain (4);	0.132970	0.64402	D	0.000003	T	0.49304	0.1549	L	0.57536	1.79	0.80722	D	1	B;B;P;D	0.89917	0.021;0.43;0.705;1.0	B;P;P;D	0.81914	0.153;0.479;0.747;0.995	T	0.25984	-1.0116	10	0.44086	T	0.13	-11.1744	19.0579	0.93074	0.0:0.0:1.0:0.0	.	1013;1068;1085;1068	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	N	1068;1013;1068	ENSP00000383211:D1013N;ENSP00000383212:D1068N	ENSP00000383211:D1013N	D	+	1	0	SGSM1	23645804	1.000000	0.71417	0.969000	0.41365	0.118000	0.20060	9.838000	0.99474	2.827000	0.97445	0.650000	0.86243	GAT	SGSM1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167037		0.567	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	34	0.00	0	G	XM_059318		25315804	25315804	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	37	20.83	10	SNP	1.000	A
SGSM2	9905	genome.wustl.edu	37	17	2280275	2280275	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:2280275C>T	ENST00000426855.2	+	20	2755	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	SGSM2_ENST00000574563.1_Silent_p.F860F|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000268989.3_Silent_p.F905F|RP1-59D14.5_ENST00000573007.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	860	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACAGCTGCTTCAGCCACCTCA	0.622																																						dbGAP											0													53.0	50.0	51.0					17																	2280275		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2580C>T	17.37:g.2280275C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.F905	ENST00000426855.2	37	c.2715	CCDS45570.1	17																																																																																			SGSM2	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000141258		0.622	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	19	0.00	0	C	NM_014853		2280275	2280275	+1	no_errors	ENST00000268989	ensembl	human	known	69_37n	silent	20	48.72	19	SNP	1.000	T
SH2D5	400745	genome.wustl.edu	37	1	21050165	21050165	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:21050165C>T	ENST00000444387.2	-	8	1259	c.862G>A	c.(862-864)Gag>Aag	p.E288K	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Missense_Mutation_p.E204K	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	288										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-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;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGCTGCCCTCGCTCTCCACC	0.662																																						dbGAP											0													25.0	30.0	28.0					1																	21050165		2146	4239	6385	-	-	-	SO:0001583	missense	0			AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.862G>A	1.37:g.21050165C>T	ENSP00000406026:p.Glu288Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3W3|Q5SSJ2	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH2	p.E288K	ENST00000444387.2	37	c.862	CCDS44080.1	1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514604	0.64522	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	T;T	0.63744	-0.06;-0.06	5.15	4.23	0.50019	SH2 motif (3);	0.411852	0.23030	N	0.052745	T	0.56819	0.2011	M	0.65498	2.005	0.37301	D	0.908696	B	0.09022	0.002	B	0.06405	0.002	T	0.57516	-0.7798	10	0.30078	T	0.28	.	9.3895	0.38363	0.0:0.9037:0.0:0.0963	.	288	Q6ZV89	SH2D5_HUMAN	K	204;288	ENSP00000364171:E204K;ENSP00000406026:E288K	ENSP00000364171:E204K	E	-	1	0	SH2D5	20922752	0.996000	0.38824	0.469000	0.27204	0.913000	0.54294	4.387000	0.59626	1.403000	0.46800	0.563000	0.77884	GAG	SH2D5	-	NULL	ENSG00000189410		0.662	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D5	HGNC	protein_coding	OTTHUMT00000007455.2	11	0.00	0	C	XM_375698		21050165	21050165	-1	no_errors	ENST00000444387	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.916	T
SHC2	25759	genome.wustl.edu	37	19	436390	436390	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:436390G>C	ENST00000264554.6	-	6	815	c.816C>G	c.(814-816)atC>atG	p.I272M		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	272	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.			I -> E (in Ref. 3). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		CTCTCTGGTTGATGGGGTCCT	0.721																																						dbGAP											0													22.0	28.0	26.0					19																	436390		1898	4100	5998	-	-	-	SO:0001583	missense	0			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.816C>G	19.37:g.436390G>C	ENSP00000264554:p.Ile272Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,prints_PID_domain,prints_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2	p.I272M	ENST00000264554.6	37	c.816	CCDS45891.1	19	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677404	0.47886	.	.	ENSG00000129946	ENST00000264554	T	0.19669	2.13	4.37	-1.23	0.09465	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.330898	0.31358	N	0.007794	T	0.26304	0.0642	L	0.47716	1.5	0.28974	N	0.889069	D	0.55385	0.971	D	0.64595	0.927	T	0.12243	-1.0555	10	0.72032	D	0.01	-24.5438	1.771	0.03012	0.212:0.2725:0.3769:0.1385	.	272	P98077	SHC2_HUMAN	M	272	ENSP00000264554:I272M	ENSP00000264554:I272M	I	-	3	3	SHC2	387390	1.000000	0.71417	0.972000	0.41901	0.750000	0.42670	0.533000	0.23082	0.056000	0.16144	0.430000	0.28490	ATC	SHC2	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000129946		0.721	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	11	0.00	0	G			436390	436390	-1	no_errors	ENST00000264554	ensembl	human	known	69_37n	missense	4	66.67	8	SNP	0.967	C
SHPRH	257218	genome.wustl.edu	37	6	146264518	146264518	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:146264518C>T	ENST00000367505.2	-	9	2263	c.1999G>A	c.(1999-2001)Gat>Aat	p.D667N	SHPRH_ENST00000275233.7_Missense_Mutation_p.D667N|SHPRH_ENST00000367503.3_Missense_Mutation_p.D667N|SHPRH_ENST00000438092.2_Missense_Mutation_p.D667N			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	667					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTATCTGATCAAGTTCACCA	0.408																																						dbGAP											0													118.0	111.0	114.0					6																	146264518		1971	4162	6133	-	-	-	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1999G>A	6.37:g.146264518C>T	ENSP00000356475:p.Asp667Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.D667N	ENST00000367505.2	37	c.1999	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597724	0.46318	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.46	3.6	0.41247	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);DEAD-like helicase (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.385653	0.25729	N	0.028692	T	0.26810	0.0656	L	0.29908	0.895	0.31255	N	0.693535	B;B;B;B	0.12013	0.0;0.001;0.001;0.005	B;B;B;B	0.13407	0.003;0.009;0.005;0.009	T	0.08371	-1.0725	10	0.21014	T	0.42	-3.0691	10.9312	0.47220	0.0:0.8406:0.0:0.1594	.	556;667;667;556	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	N	667;667;667;667;556	ENSP00000356475:D667N;ENSP00000356473:D667N;ENSP00000412797:D667N;ENSP00000275233:D667N	ENSP00000275233:D667N	D	-	1	0	SHPRH	146306211	1.000000	0.71417	0.131000	0.22000	0.887000	0.51463	4.888000	0.63164	0.725000	0.32318	0.650000	0.86243	GAT	SHPRH	-	superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Znf_PHD	ENSG00000146414		0.408	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	33	0.00	0	C	NM_173082		146264518	146264518	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	missense	33	30.61	15	SNP	1.000	T
SIGLECL1	284369	genome.wustl.edu	37	19	51768841	51768841	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:51768841G>A	ENST00000316401.7	+	3	623	c.242G>A	c.(241-243)aGa>aAa	p.R81K	SIGLECL1_ENST00000593968.1_Intron|SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	439	Ig-like V-type 1.		P -> H (in dbSNP:rs2034891).|P -> T (in dbSNP:rs2034891).		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R81I(1)									ATGGGCATGAGACTTCTCTGT	0.552																																						dbGAP											1	Substitution - Missense(1)	lung(1)											87.0	83.0	85.0					19																	51768841		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.242G>A	19.37:g.51768841G>A	ENSP00000321249:p.Arg81Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYH7	Missense_Mutation	SNP	NULL	p.R81K	ENST00000316401.7	37	c.242	CCDS12827.1	19	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.890841	0.00527	.	.	ENSG00000179213	ENST00000316401	T	0.42131	0.98	3.83	-3.93	0.04143	Immunoglobulin-like fold (1);	0.738844	0.11729	N	0.535159	T	0.21022	0.0506	L	0.31207	0.915	0.09310	N	1	B	0.19706	0.038	B	0.11329	0.006	T	0.15983	-1.0418	10	0.32370	T	0.25	.	0.9532	0.01380	0.3371:0.1524:0.3464:0.1642	.	81	Q8N7X8	CS075_HUMAN	K	81	ENSP00000321249:R81K	ENSP00000321249:R81K	R	+	2	0	C19orf75	56460653	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-0.873000	0.04214	-0.668000	0.05296	0.557000	0.71058	AGA	SIGLECL1	-	NULL	ENSG00000179213		0.552	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLECL1	HGNC	protein_coding	OTTHUMT00000464161.2	38	0.00	0	G	NM_173635		51768841	51768841	+1	no_errors	ENST00000316401	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.000	A
SLC12A5	57468	genome.wustl.edu	37	20	44663663	44663663	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:44663663G>C	ENST00000454036.2	+	2	247	c.198G>C	c.(196-198)aaG>aaC	p.K66N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.K43N|SLC12A5_ENST00000608944.1_5'UTR|SLC12A5_ENST00000372315.1_Missense_Mutation_p.K43N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	66					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.K43K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGATGGCAAGAACATGGCCT	0.547																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											267.0	178.0	208.0					20																	44663663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.198G>C	20.37:g.44663663G>C	ENSP00000387694:p.Lys66Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.K66N	ENST00000454036.2	37	c.198	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009571	0.35415	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.95377	-1.9;-3.28;-3.69;-1.9	4.88	1.9	0.25705	.	0.055306	0.64402	D	0.000001	D	0.92113	0.7500	L	0.49455	1.56	0.36522	D	0.870245	B;B;B	0.23128	0.046;0.08;0.046	B;B;B	0.31547	0.03;0.132;0.046	D	0.86749	0.1959	10	0.31617	T	0.26	.	7.4265	0.27102	0.343:0.0:0.657:0.0	.	66;43;43	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	N	66;43;43;43	ENSP00000387694:K66N;ENSP00000361389:K43N;ENSP00000446091:K43N;ENSP00000243964:K43N	ENSP00000243964:K43N	K	+	3	2	SLC12A5	44097070	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.553000	0.23391	0.357000	0.24183	0.655000	0.94253	AAG	SLC12A5	-	prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	49	0.00	0	G			44663663	44663663	+1	no_errors	ENST00000454036	ensembl	human	known	69_37n	missense	60	14.29	10	SNP	1.000	C
SLC12A5	57468	genome.wustl.edu	37	20	44681673	44681673	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:44681673G>C	ENST00000454036.2	+	19	2573	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E819Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	842					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGGAACCCTGAGCGCTTCTC	0.597																																						dbGAP											0													155.0	119.0	131.0					20																	44681673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2524G>C	20.37:g.44681673G>C	ENSP00000387694:p.Glu842Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.E842Q	ENST00000454036.2	37	c.2524	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	g	19.06	3.753190	0.69648	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.83992	-1.79;-1.79	4.49	4.49	0.54785	.	0.119407	0.56097	D	0.000033	D	0.82388	0.5026	M	0.67625	2.065	0.80722	D	1	B;B	0.23937	0.056;0.094	B;B	0.29785	0.088;0.107	T	0.79339	-0.1844	10	0.29301	T	0.29	.	16.3329	0.83049	0.0:0.0:1.0:0.0	.	842;819	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	Q	842;819	ENSP00000387694:E842Q;ENSP00000243964:E819Q	ENSP00000243964:E819Q	E	+	1	0	SLC12A5	44115080	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	9.593000	0.98250	2.309000	0.77851	0.556000	0.70494	GAG	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.597	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	62	0.00	0	G			44681673	44681673	+1	no_errors	ENST00000454036	ensembl	human	known	69_37n	missense	55	42.71	41	SNP	1.000	C
SLC4A4	8671	genome.wustl.edu	37	4	72205157	72205157	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:72205157C>T	ENST00000264485.5	+	4	441	c.324C>T	c.(322-324)ctC>ctT	p.L108L	SLC4A4_ENST00000512686.1_Silent_p.L64L|SLC4A4_ENST00000425175.1_Silent_p.L108L|SLC4A4_ENST00000351898.6_Silent_p.L108L|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Silent_p.L64L	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	108					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCCCTCAGCTCTTCACGGAAC	0.537																																						dbGAP											0													101.0	100.0	100.0					4																	72205157		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.324C>T	4.37:g.72205157C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L108	ENST00000264485.5	37	c.324	CCDS43236.1	4																																																																																			SLC4A4	-	superfamily_PTrfase/Anion_transptr	ENSG00000080493		0.537	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	24	0.00	0	C	NM_003759		72205157	72205157	+1	no_errors	ENST00000425175	ensembl	human	known	69_37n	silent	38	33.33	19	SNP	1.000	T
SLITRK1	114798	genome.wustl.edu	37	13	84454773	84454773	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:84454773G>A	ENST00000377084.2	-	1	1755	c.870C>T	c.(868-870)ttC>ttT	p.F290F		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	290					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CATTTGTCTTGAAAGGAGTTG	0.537																																						dbGAP											0													75.0	75.0	75.0					13																	84454773		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.870C>T	13.37:g.84454773G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F290	ENST00000377084.2	37	c.870	CCDS9464.1	13																																																																																			SLITRK1	-	NULL	ENSG00000178235		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	64	0.00	0	G	NM_052910		84454773	84454773	-1	no_errors	ENST00000377084	ensembl	human	known	69_37n	silent	111	41.58	79	SNP	1.000	A
SLU7	10569	genome.wustl.edu	37	5	159842242	159842242	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:159842242C>A	ENST00000297151.4	-	2	447	c.60G>T	c.(58-60)atG>atT	p.M20I		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	20					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAAACTCATTTCTTTGG	0.458																																						dbGAP											0													142.0	139.0	140.0					5																	159842242		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.60G>T	5.37:g.159842242C>A	ENSP00000297151:p.Met20Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.M20I	ENST00000297151.4	37	c.60	CCDS4352.1	5	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211509	0.39102	.	.	ENSG00000164609	ENST00000297151;ENST00000521826;ENST00000519349;ENST00000520664	T;T;T	0.41065	1.61;1.01;1.01	5.68	3.81	0.43845	.	0.175051	0.64402	N	0.000007	T	0.22360	0.0539	N	0.12471	0.22	0.31085	N	0.711512	B	0.02656	0.0	B	0.01281	0.0	T	0.10753	-1.0616	10	0.33940	T	0.23	.	7.6491	0.28337	0.2759:0.6481:0.0:0.076	.	20	O95391	SLU7_HUMAN	I	20	ENSP00000297151:M20I;ENSP00000428943:M20I;ENSP00000429990:M20I	ENSP00000297151:M20I	M	-	3	0	SLU7	159774820	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.596000	0.36718	1.409000	0.46915	0.650000	0.86243	ATG	SLU7	-	NULL	ENSG00000164609		0.458	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	76	0.00	0	C	NM_006425		159842242	159842242	-1	no_errors	ENST00000297151	ensembl	human	known	69_37n	missense	87	44.30	70	SNP	1.000	A
SMARCA1	6594	genome.wustl.edu	37	X	128605204	128605204	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:128605204C>G	ENST00000371122.4	-	20	2671	c.2542G>C	c.(2542-2544)Gaa>Caa	p.E848Q	SMARCA1_ENST00000371121.3_Missense_Mutation_p.E836Q|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E836Q	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	848					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTTCCTTTTCTTCAGTCTCT	0.348																																						dbGAP											0													134.0	124.0	127.0					X																	128605204		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2542G>C	X.37:g.128605204C>G	ENSP00000360163:p.Glu848Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JV41|Q5JV42	Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E848Q	ENST00000371122.4	37	c.2542	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631919	0.67015	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.01	5.57	5.57	0.84162	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.64402	D	0.000010	D	0.91901	0.7436	M	0.70903	2.155	0.80722	D	1	P;P;P;P	0.46578	0.88;0.88;0.854;0.88	B;B;B;B	0.41510	0.359;0.359;0.245;0.359	D	0.91941	0.5563	10	0.44086	T	0.13	-18.3962	18.6111	0.91285	0.0:1.0:0.0:0.0	.	827;848;836;848	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	Q	836;836;848;827	ENSP00000360162:E836Q;ENSP00000360164:E836Q;ENSP00000360163:E848Q;ENSP00000404275:E827Q	ENSP00000360162:E836Q	E	-	1	0	SMARCA1	128432885	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.614000	0.82996	2.338000	0.79540	0.600000	0.82982	GAA	SMARCA1	-	pfam_ATPase_nucl-remodel_HAND-dom,superfamily_ATPase_nucl-remodel_HAND-dom	ENSG00000102038		0.348	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	114	0.00	0	C	NM_003069		128605204	128605204	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	missense	173	23.11	52	SNP	1.000	G
SMARCA2	6595	genome.wustl.edu	37	9	2088583	2088583	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:2088583G>C	ENST00000382203.1	+	19	3062	c.2853G>C	c.(2851-2853)aaG>aaC	p.K951N	SMARCA2_ENST00000357248.2_Missense_Mutation_p.K951N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.K951N|SMARCA2_ENST00000382194.1_Missense_Mutation_p.K951N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	951					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)		GGAGACTGAAGAAAGAAGTTG	0.373																																						dbGAP											0													110.0	125.0	120.0					9																	2088583		2203	4300	6503	-	-	-	SO:0001583	missense	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.2853G>C	9.37:g.2088583G>C	ENSP00000371638:p.Lys951Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	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.K951N	ENST00000382203.1	37	c.2853	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091975	0.76756	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.43	4.53	0.55603	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.91758	0.7393	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.994;0.997	D	0.92895	0.6334	10	0.87932	D	0	-33.9596	13.5844	0.61921	0.0744:0.0:0.9256:0.0	.	552;951;951	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	N	951	ENSP00000265773:K951N;ENSP00000349788:K951N;ENSP00000371638:K951N;ENSP00000371629:K951N	ENSP00000265773:K951N	K	+	3	2	SMARCA2	2078583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.688000	0.68227	2.563000	0.86464	0.655000	0.94253	AAG	SMARCA2	-	pfam_SNF2_N	ENSG00000080503		0.373	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	34	0.00	0	G	NM_003070		2088583	2088583	+1	no_errors	ENST00000349721	ensembl	human	known	69_37n	missense	25	45.65	21	SNP	1.000	C
SMARCAD1	56916	genome.wustl.edu	37	4	95173942	95173942	+	Silent	SNP	T	T	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:95173942T>G	ENST00000354268.4	+	9	1138	c.1065T>G	c.(1063-1065)gtT>gtG	p.V355V	SMARCAD1_ENST00000457823.2_Silent_p.V355V|SMARCAD1_ENST00000509418.1_5'Flank			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	355					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGAGAGTTGTTGAAGACTCTG	0.328																																						dbGAP											0													75.0	74.0	75.0					4																	95173942		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1065T>G	4.37:g.95173942T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V355	ENST00000354268.4	37	c.1065	CCDS3639.1	4																																																																																			SMARCAD1	-	NULL	ENSG00000163104		0.328	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	36	0.00	0	T	NM_020159		95173942	95173942	+1	no_errors	ENST00000359052	ensembl	human	known	69_37n	silent	35	36.36	20	SNP	0.001	G
SMARCC2	6601	genome.wustl.edu	37	12	56563682	56563682	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:56563682C>A	ENST00000267064.4	-	23	2419	c.2333G>T	c.(2332-2334)gGa>gTa	p.G778V	SMARCC2_ENST00000394023.3_Missense_Mutation_p.G809V|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.G809V|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G809V	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	778	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|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)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGCACCCCCTCCTTCTCGGGG	0.498																																						dbGAP											0													75.0	75.0	75.0					12																	56563682		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2333G>T	12.37:g.56563682C>A	ENSP00000267064:p.Gly778Val	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.G778V	ENST00000267064.4	37	c.2333	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341174	0.24339	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.46451	1.1;0.87;0.88;0.89	5.03	3.2	0.36748	.	0.192056	0.30649	N	0.009174	T	0.32010	0.0815	N	0.14661	0.345	0.54753	D	0.999982	P;D;P;P;D	0.55385	0.914;0.971;0.952;0.952;0.971	B;P;B;P;P	0.49853	0.329;0.624;0.42;0.5;0.529	T	0.08452	-1.0721	10	0.54805	T	0.06	-5.0585	9.2316	0.37441	0.0:0.828:0.0:0.172	.	698;809;813;778;809	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	V	809;809;809;778	ENSP00000377591:G809V;ENSP00000449396:G809V;ENSP00000302919:G809V;ENSP00000267064:G778V	ENSP00000267064:G778V	G	-	2	0	SMARCC2	54849949	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	3.448000	0.52943	0.642000	0.30620	-0.258000	0.10820	GGA	SMARCC2	-	superfamily_Chromodomain-like	ENSG00000139613		0.498	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	70	0.00	0	C			56563682	56563682	-1	no_errors	ENST00000267064	ensembl	human	known	69_37n	missense	71	20.22	18	SNP	1.000	A
SMARCC2	6601	genome.wustl.edu	37	12	56567524	56567524	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:56567524C>T	ENST00000267064.4	-	17	1692	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	SMARCC2_ENST00000394023.3_Missense_Mutation_p.D536N|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.D536N|SMARCC2_ENST00000550164.1_Missense_Mutation_p.D536N	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	536					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|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)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GATGGTGTGTCAGCCAAGACA	0.567																																						dbGAP											0													143.0	146.0	145.0					12																	56567524		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1606G>A	12.37:g.56567524C>T	ENSP00000267064:p.Asp536Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.D536N	ENST00000267064.4	37	c.1606	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.075287	0.94000	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.68025	-0.27;-0.27;-0.3	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	M	0.92604	3.325	0.58432	D	0.999999	D;D;D;D;D	0.67145	0.993;0.996;0.993;0.993;0.996	D;D;D;D;D	0.77557	0.977;0.99;0.977;0.977;0.99	D	0.89451	0.3730	10	0.87932	D	0	-21.364	17.4276	0.87530	0.0:1.0:0.0:0.0	.	425;536;541;536;536	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	N	536	ENSP00000449396:D536N;ENSP00000302919:D536N;ENSP00000267064:D536N	ENSP00000267064:D536N	D	-	1	0	SMARCC2	54853791	1.000000	0.71417	0.961000	0.40146	0.991000	0.79684	7.726000	0.84824	2.579000	0.87056	0.563000	0.77884	GAC	SMARCC2	-	superfamily_Chromodomain-like	ENSG00000139613		0.567	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	32	0.00	0	C			56567524	56567524	-1	no_errors	ENST00000267064	ensembl	human	known	69_37n	missense	24	21.88	7	SNP	1.000	T
SMC5	23137	genome.wustl.edu	37	9	72912969	72912969	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:72912969G>A	ENST00000361138.5	+	9	1199	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	381					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CAAAATGATAGAGGATTTGCA	0.388																																						dbGAP											0													110.0	103.0	105.0					9																	72912969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1141G>A	9.37:g.72912969G>A	ENSP00000354957:p.Glu381Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC	p.E381K	ENST00000361138.5	37	c.1141	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490314	0.84962	.	.	ENSG00000198887	ENST00000361138	T	0.20738	2.05	5.92	5.92	0.95590	RecF/RecN/SMC (1);	0.229761	0.44902	D	0.000418	T	0.21921	0.0528	L	0.37630	1.12	0.44061	D	0.996803	P	0.51057	0.941	P	0.45167	0.472	T	0.01105	-1.1450	10	0.20519	T	0.43	-19.3275	17.2238	0.86964	0.0:0.1255:0.8745:0.0	.	381	Q8IY18	SMC5_HUMAN	K	381	ENSP00000354957:E381K	ENSP00000354957:E381K	E	+	1	0	SMC5	72102789	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.077000	0.57598	2.813000	0.96785	0.591000	0.81541	GAG	SMC5	-	pfam_RecF/RecN/SMC	ENSG00000198887		0.388	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	45	0.00	0	G	NM_015110		72912969	72912969	+1	no_errors	ENST00000361138	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	1.000	A
SMO	6608	genome.wustl.edu	37	7	128850845	128850845	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:128850845G>A	ENST00000249373.3	+	10	1972	c.1692G>A	c.(1690-1692)aaG>aaA	p.K564K	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	564	Interaction with BBS5 and BBS7.				adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	AGCGGATCAAGAAGAGCAAGA	0.557			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													139.0	110.0	120.0					7																	128850845		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1692G>A	7.37:g.128850845G>A		Somatic	1568	WXS	Illumina GAIIx	Phase_IV	A4D1K5	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.K564	ENST00000249373.3	37	c.1692	CCDS5811.1	7																																																																																			SMO	-	NULL	ENSG00000128602		0.557	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	14	0.00	0	G	NM_005631		128850845	128850845	+1	no_errors	ENST00000249373	ensembl	human	known	69_37n	silent	24	25.00	8	SNP	1.000	A
SMPDL3A	10924	genome.wustl.edu	37	6	123130485	123130485	+	Missense_Mutation	SNP	A	A	G	rs377120956		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:123130485A>G	ENST00000368440.4	+	8	1471	c.1294A>G	c.(1294-1296)Att>Gtt	p.I432V	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.I301V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	432					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GATTTGTGCAATTATGAATCT	0.313													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18236	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													61.0	60.0	60.0					6																	123130485		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.1294A>G	6.37:g.123130485A>G	ENSP00000357425:p.Ile432Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z729|Q8WV13	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.I432V	ENST00000368440.4	37	c.1294	CCDS5128.1	6	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287477	0.40494	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.89415	-2.51;-2.51	5.91	4.75	0.60458	.	0.204155	0.51477	N	0.000090	T	0.78084	0.4228	L	0.50847	1.595	0.51482	D	0.999928	B	0.27765	0.188	B	0.29267	0.1	T	0.74359	-0.3691	10	0.29301	T	0.29	-12.7412	12.055	0.53529	0.9327:0.0:0.0673:0.0	.	432	Q92484	ASM3A_HUMAN	V	432;301	ENSP00000357425:I432V;ENSP00000442152:I301V	ENSP00000357425:I432V	I	+	1	0	SMPDL3A	123172184	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.818000	0.55678	1.060000	0.40578	-0.451000	0.05528	ATT	SMPDL3A	-	pirsf_ASM-like_Pdiesterase_prd	ENSG00000172594		0.313	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	25	0.00	0	A	NM_006714		123130485	123130485	+1	no_errors	ENST00000368440	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	G
SNCAIP	9627	genome.wustl.edu	37	5	121786788	121786788	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:121786788C>G	ENST00000261368.8	+	10	2508	c.2246C>G	c.(2245-2247)tCt>tGt	p.S749C	SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S796C|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S307C|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S351C|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S383C|SNCAIP_ENST00000261367.7_Missense_Mutation_p.S796C|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S689C|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	749					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACAGCCCATCTCCCACCTCA	0.562																																						dbGAP											0													81.0	85.0	84.0					5																	121786788		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2246C>G	5.37:g.121786788C>G	ENSP00000261368:p.Ser749Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S796C	ENST00000261368.8	37	c.2387	CCDS4131.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.865197|3.865197	0.71949|0.71949	.|.	.|.	ENSG00000064692|ENSG00000064692	ENST00000447854|ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	.|T;T;T;T;T;T;T;T	.|0.21361	.|3.87;4.62;2.28;2.01;4.62;4.31;2.01;4.07	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.107629	.|0.64402	.|D	.|0.000003	T|T	0.52141|0.52141	0.1716|0.1716	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.998;0.998;0.995;0.994;0.999;0.996;0.994;0.991	T|T	0.50482|0.50482	-0.8823|-0.8823	6|10	0.87932|0.87932	D|D	0|0	-14.9882|-14.9882	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|689;377;351;689;383;383;796;749	.|D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.|.;.;.;.;.;.;.;SNCAP_HUMAN	V|C	372|307;689;749;796;689;383;796;351	.|ENSP00000441681:S307C;ENSP00000422106:S689C;ENSP00000261368:S749C;ENSP00000368848:S796C;ENSP00000368851:S689C;ENSP00000368854:S383C;ENSP00000261367:S796C;ENSP00000394392:S351C	ENSP00000416985:L372V|ENSP00000261367:S796C	L|S	+|+	1|2	0|0	SNCAIP|SNCAIP	121814687|121814687	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.895000|0.895000	0.52256|0.52256	5.669000|5.669000	0.68081|0.68081	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CTC|TCT	SNCAIP	-	NULL	ENSG00000064692		0.562	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	48	0.00	0	C			121786788	121786788	+1	no_errors	ENST00000379533	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	1.000	G
GNL3	26354	genome.wustl.edu	37	3	52724768	52724768	+	Intron	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:52724768G>A	ENST00000418458.1	+	7	827				SNORD19B_ENST00000516978.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000391191.1_RNA|GNL3_ENST00000394799.2_Intron|SNORD69_ENST00000391150.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)						cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GATTTTGGTTGAAATATGATG	0.343																																						dbGAP											0													51.0	56.0	54.0					3																	52724768		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.654+48G>A	3.37:g.52724768G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	RNA	SNP	-	NULL	ENST00000418458.1	37	NULL	CCDS2861.1	3																																																																																			SNORD19B	-	-	ENSG00000238862		0.343	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD19B	HGNC	protein_coding	OTTHUMT00000352032.1	16	0.00	0	G	NM_014366		52724768	52724768	+1	no_errors	ENST00000459623	ensembl	human	known	69_37n	rna	18	56.82	25	SNP	1.000	A
RPL7A	6130	genome.wustl.edu	37	9	136216282	136216282	+	Intron	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:136216282G>A	ENST00000323345.6	+	3	154				MED22_ENST00000343730.5_5'Flank|RPL7A_ENST00000315731.4_Intron|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000371999.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000476080.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000344469.5_5'Flank|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000463740.1_Intron|MED22_ENST00000491289.1_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a						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)|ribosome biogenesis (GO:0042254)|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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TTTGCTATCTGAGAGATGGTG	0.443																																						dbGAP											0													93.0	86.0	88.0					9																	136216282		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.125-124G>A	9.37:g.136216282G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P11518|Q5T8U4	RNA	SNP	-	NULL	ENST00000323345.6	37	NULL	CCDS6965.1	9																																																																																			SNORD24	-	-	ENSG00000206611		0.443	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD24	HGNC	protein_coding	OTTHUMT00000054869.1	13	0.00	0	G	NM_000972		136216282	136216282	+1	no_errors	ENST00000383884	ensembl	human	known	69_37n	rna	11	45.00	9	SNP	0.802	A
NOP56	10528	genome.wustl.edu	37	20	2637595	2637595	+	Intron	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:2637595G>C	ENST00000329276.5	+	10	1797				SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORA51_ENST00000606420.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|NOP56_ENST00000492135.1_Intron	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGGAGGTGATGAACTGTCTGA	0.468																																						dbGAP											0													182.0	163.0	168.0					20																	2637595		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1281+54G>C	20.37:g.2637595G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3T6|Q9NQ05	RNA	SNP	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			SNORD57	-	-	ENSG00000207262		0.468	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD57	RFAM	protein_coding	OTTHUMT00000077631.2	61	0.00	0	G	NM_006392		2637595	2637595	+1	no_errors	ENST00000384532	ensembl	human	known	69_37n	rna	49	46.15	42	SNP	1.000	C
SNX7	51375	genome.wustl.edu	37	1	99150551	99150551	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:99150551C>A	ENST00000306121.3	+	2	300	c.291C>A	c.(289-291)ttC>ttA	p.F97L	SNX7_ENST00000370189.5_Missense_Mutation_p.F33L|SNX7_ENST00000529992.1_Missense_Mutation_p.F97L	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	33	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGGATCTCTTCATCACAGTTG	0.343																																						dbGAP											0													110.0	99.0	103.0					1																	99150551		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.291C>A	1.37:g.99150551C>A	ENSP00000304429:p.Phe97Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F97L	ENST00000306121.3	37	c.291	CCDS755.2	1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856379	0.51376	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.39	2.53	0.30540	.	0.099982	0.64402	N	0.000001	T	0.15522	0.0374	L	0.39467	1.215	0.58432	D	0.999994	P;B;B	0.41978	0.767;0.198;0.055	P;B;B	0.45610	0.487;0.041;0.024	T	0.04191	-1.0970	10	0.10636	T	0.68	-13.356	10.5299	0.44971	0.0:0.7906:0.0:0.2094	.	97;97;33	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	L	33;97;97;33	ENSP00000359208:F33L;ENSP00000434731:F97L;ENSP00000304429:F97L;ENSP00000388266:F33L	ENSP00000304429:F97L	F	+	3	2	SNX7	98923139	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.330000	0.33781	0.273000	0.22049	0.650000	0.86243	TTC	SNX7	-	superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000162627		0.343	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX7	HGNC	protein_coding	OTTHUMT00000029609.2	44	0.00	0	C			99150551	99150551	+1	no_errors	ENST00000306121	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	1.000	A
SON	6651	genome.wustl.edu	37	21	34922706	34922706	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:34922706C>G	ENST00000356577.4	+	3	1644	c.1169C>G	c.(1168-1170)tCc>tGc	p.S390C	SON_ENST00000290239.6_Missense_Mutation_p.S390C|SON_ENST00000381679.4_Missense_Mutation_p.S390C|SON_ENST00000300278.4_Missense_Mutation_p.S390C|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	390					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCTGCGACCTCCATGCCGGAG	0.662																																						dbGAP											0													44.0	50.0	48.0					21																	34922706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1169C>G	21.37:g.34922706C>G	ENSP00000348984:p.Ser390Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd	p.S390C	ENST00000356577.4	37	c.1169	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402097	0.62288	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.15256	2.61;2.61;2.61;2.44	5.49	4.6	0.57074	.	0.343780	0.25645	N	0.029251	T	0.27524	0.0676	L	0.27053	0.805	0.26320	N	0.977686	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.963;0.984;0.965	T	0.05053	-1.0909	10	0.66056	D	0.02	.	12.3964	0.55386	0.0:0.9178:0.0:0.0822	.	390;390;390	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	C	390	ENSP00000348984:S390C;ENSP00000290239:S390C;ENSP00000300278:S390C;ENSP00000371095:S390C	ENSP00000290239:S390C	S	+	2	0	SON	33844576	0.002000	0.14202	1.000000	0.80357	0.983000	0.72400	1.053000	0.30442	1.451000	0.47736	0.561000	0.74099	TCC	SON	-	NULL	ENSG00000159140		0.662	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	31	0.00	0	C	NM_138927		34922706	34922706	+1	no_errors	ENST00000356577	ensembl	human	known	69_37n	missense	20	48.72	19	SNP	0.997	G
SORD	6652	genome.wustl.edu	37	15	45353336	45353336	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:45353336C>T	ENST00000267814.9	+	4	517	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	SORD_ENST00000558580.1_Silent_p.L92L|RP11-109D20.1_ENST00000560324.1_RNA	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	113					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		CCGATACAATCTGTCACCTTC	0.512																																						dbGAP											0													113.0	93.0	100.0					15																	45353336		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.337C>T	15.37:g.45353336C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.L113	ENST00000267814.9	37	c.337	CCDS10116.1	15																																																																																			SORD	-	pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	ENSG00000140263		0.512	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORD	HGNC	protein_coding	OTTHUMT00000254033.3	63	0.00	0	C			45353336	45353336	+1	no_errors	ENST00000267814	ensembl	human	known	69_37n	silent	63	27.59	24	SNP	1.000	T
SOX5	6660	genome.wustl.edu	37	12	23728679	23728679	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:23728679G>A	ENST00000451604.2	-	10	1359	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	SOX5_ENST00000545921.1_Silent_p.L410L|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000537393.1_Silent_p.L385L|SOX5_ENST00000396007.2_Silent_p.L34L|SOX5_ENST00000546136.1_Silent_p.L407L|SOX5_ENST00000309359.1_Silent_p.L407L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	420					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTTATTCTCAGAGCTGGCATA	0.512																																						dbGAP											0													156.0	159.0	158.0					12																	23728679		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1258C>T	12.37:g.23728679G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L420	ENST00000451604.2	37	c.1258	CCDS8699.1	12																																																																																			SOX5	-	NULL	ENSG00000134532		0.512	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	106	0.00	0	G	NM_006940		23728679	23728679	-1	no_errors	ENST00000451604	ensembl	human	known	69_37n	silent	100	15.97	19	SNP	1.000	A
SPATA17	128153	genome.wustl.edu	37	1	217947774	217947774	+	Silent	SNP	T	T	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:217947774T>G	ENST00000366933.4	+	7	673	c.618T>G	c.(616-618)gtT>gtG	p.V206V		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	206						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GACCTAAAGTTAAGCAGAAGG	0.438																																						dbGAP											0													106.0	99.0	101.0					1																	217947774		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.618T>G	1.37:g.217947774T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6N2	Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.V206	ENST00000366933.4	37	c.618	CCDS1519.1	1																																																																																			SPATA17	-	NULL	ENSG00000162814		0.438	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	37	0.00	0	T	NM_138796		217947774	217947774	+1	no_errors	ENST00000366933	ensembl	human	known	69_37n	silent	32	34.69	17	SNP	0.000	G
SPDYA	245711	genome.wustl.edu	37	2	29063329	29063329	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:29063329T>C	ENST00000334056.5	+	7	1033	c.844T>C	c.(844-846)Tct>Cct	p.S282P	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.S282P	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTATACTGGTTCTGAAGGTAT	0.378																																						dbGAP											0													76.0	75.0	76.0					2																	29063329		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.844T>C	2.37:g.29063329T>C	ENSP00000335628:p.Ser282Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.S282P	ENST00000334056.5	37	c.844	CCDS1767.2	2	.	.	.	.	.	.	.	.	.	.	T	4.768	0.142774	0.09083	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.64	3.19	0.36642	.	1.079370	0.07387	U	0.888420	T	0.42562	0.1208	L	0.51422	1.61	0.29617	N	0.846459	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.39396	-0.9616	9	0.51188	T	0.08	-3.7569	6.5761	0.22567	0.0:0.08:0.321:0.599	.	282;282	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	P	282	.	ENSP00000335628:S282P	S	+	1	0	SPDYA	28916833	0.132000	0.22450	0.892000	0.35008	0.066000	0.16364	0.051000	0.14141	0.473000	0.27368	0.455000	0.32223	TCT	SPDYA	-	NULL	ENSG00000163806		0.378	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYA	HGNC	protein_coding	OTTHUMT00000157171.1	22	0.00	0	T	NM_182756		29063329	29063329	+1	no_errors	ENST00000334056	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	0.884	C
SPG20	23111	genome.wustl.edu	37	13	36903599	36903599	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:36903599C>G	ENST00000451493.1	-	4	1281	c.1064G>C	c.(1063-1065)aGa>aCa	p.R355T	SPG20_ENST00000438666.2_Missense_Mutation_p.R355T|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Missense_Mutation_p.R355T|SPG20_ENST00000355182.4_Missense_Mutation_p.R355T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	355					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)		AGAGGAGGGTCTAGTTCTTCC	0.403																																						dbGAP											0													209.0	195.0	200.0					13																	36903599		2203	4300	6503	-	-	-	SO:0001583	missense	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.1064G>C	13.37:g.36903599C>G	ENSP00000414147:p.Arg355Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.R355T	ENST00000451493.1	37	c.1064	CCDS9356.1	13	.	.	.	.	.	.	.	.	.	.	C	9.826	1.187067	0.21870	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89196	-2.48;-2.48;-2.48	5.44	3.67	0.42095	.	0.648102	0.16272	N	0.221748	T	0.79690	0.4489	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20887	0.049;0.01;0.049	B;B;B	0.14023	0.01;0.002;0.01	T	0.61978	-0.6951	10	0.12766	T	0.61	-12.7711	9.0283	0.36243	0.0:0.8217:0.0:0.1783	.	355;355;355	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	T	355	ENSP00000406061:R355T;ENSP00000347314:R355T;ENSP00000414147:R355T	ENSP00000347314:R355T	R	-	2	0	SPG20	35801599	0.024000	0.19004	0.020000	0.16555	0.949000	0.60115	0.752000	0.26362	1.268000	0.44264	0.585000	0.79938	AGA	SPG20	-	NULL	ENSG00000133104		0.403	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	106	0.00	0	C			36903599	36903599	-1	no_errors	ENST00000355182	ensembl	human	known	69_37n	missense	82	49.69	81	SNP	0.062	G
SPICE1	152185	genome.wustl.edu	37	3	113225375	113225375	+	Silent	SNP	A	A	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:113225375A>C	ENST00000295872.4	-	2	337	c.78T>G	c.(76-78)acT>acG	p.T26T		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	26					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						GTTTCACTGAAGTTTTCTTCT	0.398																																						dbGAP											0													204.0	166.0	179.0					3																	113225375		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.78T>G	3.37:g.113225375A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN72|Q8WUX6	Silent	SNP	NULL	p.T26	ENST00000295872.4	37	c.78	CCDS2973.1	3																																																																																			SPICE1	-	NULL	ENSG00000163611		0.398	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	87	0.00	0	A	NM_144718		113225375	113225375	-1	no_errors	ENST00000295872	ensembl	human	known	69_37n	silent	96	40.74	66	SNP	0.003	C
SPINK5	11005	genome.wustl.edu	37	5	147475426	147475426	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:147475426G>A	ENST00000256084.7	+	10	882	c.840G>A	c.(838-840)ttG>ttA	p.L280L	SPINK5_ENST00000398454.1_Silent_p.L280L|SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Silent_p.L280L	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	280	Kazal-like 4. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAAAATTTGGGAAAAGCTG	0.363																																						dbGAP											0													68.0	67.0	67.0					5																	147475426		1812	4067	5879	-	-	-	SO:0001819	synonymous_variant	0			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.840G>A	5.37:g.147475426G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.L280	ENST00000256084.7	37	c.840	CCDS43382.1	5																																																																																			SPINK5	-	NULL	ENSG00000133710		0.363	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	49	0.00	0	G	NM_001127698		147475426	147475426	+1	no_errors	ENST00000359874	ensembl	human	known	69_37n	silent	39	18.75	9	SNP	0.002	A
SPTA1	6708	genome.wustl.edu	37	1	158585180	158585180	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:158585180T>C	ENST00000368147.4	-	48	6794	c.6614A>G	c.(6613-6615)gAg>gGg	p.E2205G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2205					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)					CGCCTGGATCTCCTTCTGTTT	0.463																																						dbGAP											0													135.0	130.0	131.0					1																	158585180		1895	4131	6026	-	-	-	SO:0001583	missense	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.6614A>G	1.37:g.158585180T>C	ENSP00000357129:p.Glu2205Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E2205G	ENST00000368147.4	37	c.6614	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892276	0.91889	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53640	0.61;0.61	5.65	5.65	0.86999	.	0.000000	0.32563	N	0.005934	T	0.65375	0.2685	M	0.84082	2.675	0.54753	D	0.999989	D	0.71674	0.998	D	0.77557	0.99	T	0.71600	-0.4544	10	0.87932	D	0	.	14.8532	0.70313	0.0:0.0:0.0:1.0	.	2205	P02549	SPTA1_HUMAN	G	2205;2202	ENSP00000357130:E2205G;ENSP00000357129:E2202G	ENSP00000357129:E2202G	E	-	2	0	SPTA1	156851804	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.303000	0.78871	2.371000	0.80710	0.533000	0.62120	GAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	24	0.00	0	T	NM_003126		158585180	158585180	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	52	13.11	8	SNP	1.000	C
SRCAP	10847	genome.wustl.edu	37	16	30744708	30744708	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:30744708C>A	ENST00000262518.4	+	28	6620	c.6235C>A	c.(6235-6237)Ctc>Atc	p.L2079I	SRCAP_ENST00000344771.4_Missense_Mutation_p.L1921I|SRCAP_ENST00000395059.2_Missense_Mutation_p.L2017I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2079	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			GGAGCAGTTTCTCACCTACCA	0.552																																						dbGAP											0													114.0	97.0	103.0					16																	30744708		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.6235C>A	16.37:g.30744708C>A	ENSP00000262518:p.Leu2079Ile	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.L2079I	ENST00000262518.4	37	c.6235	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030309	0.35797	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.97138	-4.26;-4.26;-4.26	5.01	5.01	0.66863	Helicase, C-terminal (3);	0.000000	0.42964	D	0.000636	D	0.98150	0.9389	M	0.71920	2.185	0.30176	N	0.800881	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.95880	0.8898	10	0.66056	D	0.02	-13.0601	17.2487	0.87035	0.0:1.0:0.0:0.0	.	2017;2079	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	I	2079;2017;1921	ENSP00000262518:L2079I;ENSP00000378499:L2017I;ENSP00000343042:L1921I	ENSP00000262518:L2079I	L	+	1	0	SRCAP	30652209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.857000	0.55972	2.609000	0.88269	0.655000	0.94253	CTC	SRCAP	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000080603		0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	36	0.00	0	C	NM_006662		30744708	30744708	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	missense	68	12.82	10	SNP	1.000	A
SREBF2	6721	genome.wustl.edu	37	22	42290843	42290843	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:42290843C>T	ENST00000361204.4	+	13	2563	c.2397C>T	c.(2395-2397)gtC>gtT	p.V799V	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	799					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTGCGCAGGTCCACCAGGCCT	0.522																																						dbGAP											0													106.0	114.0	112.0					22																	42290843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2397C>T	22.37:g.42290843C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.V799	ENST00000361204.4	37	c.2397	CCDS14023.1	22																																																																																			SREBF2	-	NULL	ENSG00000198911		0.522	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	17	0.00	0	C	NM_004599		42290843	42290843	+1	no_errors	ENST00000361204	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.344	T
SRFBP1	153443	genome.wustl.edu	37	5	121356179	121356179	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:121356179G>A	ENST00000339397.4	+	6	821	c.749G>A	c.(748-750)gGa>gAa	p.G250E		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AGTGATGGCGGAGAAGAATTT	0.413																																						dbGAP											0													126.0	112.0	117.0					5																	121356179		1855	4098	5953	-	-	-	SO:0001583	missense	0			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.749G>A	5.37:g.121356179G>A	ENSP00000341324:p.Gly250Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Bud-site_select_BUD22	p.G250E	ENST00000339397.4	37	c.749	CCDS43354.1	5	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.499616	0.01001	.	.	ENSG00000151304	ENST00000339397	.	.	.	2.87	-0.0837	0.13693	.	1.547960	0.03588	N	0.231347	T	0.12987	0.0315	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23226	-1.0194	9	0.02654	T	1	-2.2807	2.168	0.03842	0.5821:0.0:0.1699:0.248	.	250	Q8NEF9	SRFB1_HUMAN	E	250	.	ENSP00000341324:G250E	G	+	2	0	SRFBP1	121384078	0.000000	0.05858	0.041000	0.18516	0.286000	0.27126	0.024000	0.13555	0.210000	0.20664	-0.373000	0.07131	GGA	SRFBP1	-	NULL	ENSG00000151304		0.413	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRFBP1	HGNC	protein_coding	OTTHUMT00000371200.1	20	0.00	0	G	NM_152546		121356179	121356179	+1	no_errors	ENST00000339397	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	0.073	A
SSNA1	8636	genome.wustl.edu	37	9	140083571	140083571	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:140083571G>C	ENST00000322310.5	+	2	186	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	ANAPC2_ENST00000323927.2_5'Flank|SSNA1_ENST00000459860.1_3'UTR	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	36					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		GATCCAGGAGGAGGAGGACGA	0.672																																						dbGAP											0													24.0	21.0	22.0					9																	140083571		2192	4295	6487	-	-	-	SO:0001583	missense	0			Z96932	CCDS7034.1	9q34.3	2008-02-05	2007-10-04		ENSG00000176101	ENSG00000176101			11321	protein-coding gene	gene with protein product		610882	"""Sjogren's syndrome nuclear autoantigen 1"""			9430706	Standard	NM_003731		Approved	NA14, N14	uc004cls.2	O43805	OTTHUMG00000020982	ENST00000322310.5:c.106G>C	9.37:g.140083571G>C	ENSP00000313752:p.Glu36Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSG0|Q6FG70|Q9BVW8	Missense_Mutation	SNP	NULL	p.E36Q	ENST00000322310.5	37	c.106	CCDS7034.1	9	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793688	0.90453	.	.	ENSG00000176101	ENST00000322310	D	0.82711	-1.64	4.31	4.31	0.51392	.	0.058600	0.64402	D	0.000003	D	0.87466	0.6184	L	0.59912	1.85	0.53688	D	0.999973	D	0.67145	0.996	P	0.62298	0.9	D	0.87197	0.2238	10	0.41790	T	0.15	-24.9447	14.6283	0.68638	0.0:0.0:1.0:0.0	.	36	O43805	SSNA1_HUMAN	Q	36	ENSP00000313752:E36Q	ENSP00000313752:E36Q	E	+	1	0	SSNA1	139203392	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.124000	0.71620	2.090000	0.63153	0.561000	0.74099	GAG	SSNA1	-	NULL	ENSG00000176101		0.672	SSNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSNA1	HGNC	protein_coding	OTTHUMT00000055311.1	10	0.00	0	G	NM_003731		140083571	140083571	+1	no_errors	ENST00000322310	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	1.000	C
SSX2IP	117178	genome.wustl.edu	37	1	85135517	85135517	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:85135517C>G	ENST00000342203.3	-	4	536	c.273G>C	c.(271-273)aaG>aaC	p.K91N	SSX2IP_ENST00000370612.4_Missense_Mutation_p.K91N|SSX2IP_ENST00000605755.1_Missense_Mutation_p.K64N|SSX2IP_ENST00000437941.2_Missense_Mutation_p.K64N|SSX2IP_ENST00000603677.1_Intron	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	91					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAACTCTCTCTTTGTCTCTT	0.358																																						dbGAP											0													94.0	101.0	98.0					1																	85135517		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.273G>C	1.37:g.85135517C>G	ENSP00000340279:p.Lys91Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	pfam_Afadin/alpha-actinin-bd	p.K91N	ENST00000342203.3	37	c.273	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658066	0.29425	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612;ENST00000422026	T;T	0.46063	0.88;0.88	5.24	3.01	0.34805	.	0.000000	0.64402	D	0.000004	T	0.12220	0.0297	N	0.25647	0.755	0.29168	N	0.877337	B;B;B	0.24882	0.017;0.113;0.087	B;B;B	0.28465	0.012;0.09;0.09	T	0.13335	-1.0513	10	0.30854	T	0.27	3.2827	7.4328	0.27137	0.0:0.7066:0.0:0.2934	.	87;91;64	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	N	91;64;87;91;91	ENSP00000340279:K91N;ENSP00000412781:K64N	ENSP00000340279:K91N	K	-	3	2	SSX2IP	84908105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.692000	0.37731	1.218000	0.43458	0.655000	0.94253	AAG	SSX2IP	-	pfam_Afadin/alpha-actinin-bd	ENSG00000117155		0.358	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1	98	0.00	0	C	NM_014021		85135517	85135517	-1	no_errors	ENST00000342203	ensembl	human	known	69_37n	missense	142	15.98	27	SNP	1.000	G
STS	412	genome.wustl.edu	37	X	7223129	7223129	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:7223129A>T	ENST00000217961.4	+	7	1221	c.1001A>T	c.(1000-1002)gAt>gTt	p.D334V		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	334					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TTGGCTAATGATACCCTCATC	0.418									Ichthyosis																													dbGAP											0													130.0	110.0	117.0					X																	7223129		2203	4299	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1001A>T	X.37:g.7223129A>T	ENSP00000217961:p.Asp334Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA47	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D334V	ENST00000217961.4	37	c.1001	CCDS14127.1	X	.	.	.	.	.	.	.	.	.	.	A	3.437	-0.114842	0.06881	.	.	ENSG00000101846	ENST00000217961	D	0.94862	-3.54	3.7	2.49	0.30216	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.695600	0.14127	N	0.339644	D	0.92361	0.7576	M	0.71036	2.16	0.21020	N	0.999804	B	0.18310	0.027	B	0.24269	0.052	D	0.85882	0.1423	10	0.72032	D	0.01	.	5.917	0.19059	0.7639:0.0:0.0:0.2361	.	334	P08842	STS_HUMAN	V	334	ENSP00000217961:D334V	ENSP00000217961:D334V	D	+	2	0	STS	7233129	0.420000	0.25457	0.002000	0.10522	0.002000	0.02628	3.787000	0.55439	0.301000	0.22738	-0.405000	0.06341	GAT	STS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000101846		0.418	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STS	HGNC	protein_coding	OTTHUMT00000055686.1	60	0.00	0	A	NM_000351		7223129	7223129	+1	no_errors	ENST00000217961	ensembl	human	known	69_37n	missense	90	18.18	20	SNP	0.050	T
STX4	6810	genome.wustl.edu	37	16	31045418	31045418	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:31045418G>A	ENST00000313843.3	+	2	430	c.115G>A	c.(115-117)Gag>Aag	p.E39K	STX4_ENST00000394998.1_Silent_p.T29T|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	39					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GAGCCCGGACGAGGAGTTCTT	0.667																																						dbGAP											0													23.0	28.0	26.0					16																	31045418		2196	4295	6491	-	-	-	SO:0001583	missense	0			AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.115G>A	16.37:g.31045418G>A	ENSP00000317714:p.Glu39Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXY0|Q15525|Q6FHE8	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.E39K	ENST00000313843.3	37	c.115	CCDS10700.1	16	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000055	0.54147	.	.	ENSG00000103496	ENST00000457779;ENST00000313843	T;T	0.23348	2.28;1.91	5.22	5.22	0.72569	t-SNARE (1);Syntaxin, N-terminal (2);	0.277274	0.38663	N	0.001617	T	0.29524	0.0736	L	0.61036	1.89	0.36692	D	0.879629	B	0.12013	0.005	B	0.14023	0.01	T	0.23190	-1.0195	10	0.87932	D	0	.	14.2057	0.65732	0.0:0.0:1.0:0.0	.	39	Q12846	STX4_HUMAN	K	91;39	ENSP00000390788:E91K;ENSP00000317714:E39K	ENSP00000317714:E39K	E	+	1	0	STX4	30952919	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.803000	0.62546	2.740000	0.93945	0.558000	0.71614	GAG	STX4	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N	ENSG00000103496		0.667	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX4	HGNC	protein_coding	OTTHUMT00000255538.3	22	0.00	0	G	NM_004604		31045418	31045418	+1	no_errors	ENST00000313843	ensembl	human	known	69_37n	missense	15	58.33	21	SNP	1.000	A
STX6	10228	genome.wustl.edu	37	1	180974600	180974600	+	Splice_Site	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:180974600C>G	ENST00000258301.5	-	2	273		c.e2-1		STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6						endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						CTGTACCTCTCTGTAATCAAG	0.453																																						dbGAP											0													90.0	87.0	88.0					1																	180974600		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.36-1G>C	1.37:g.180974600C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R652|B4DR17|Q5VY08|Q6FH83	Splice_Site	SNP	-	e2-1	ENST00000258301.5	37	c.36-1	CCDS1341.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142328	0.77775	.	.	ENSG00000135823	ENST00000258301	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0645	0.93104	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STX6	179241223	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	7.246000	0.78247	2.595000	0.87683	0.557000	0.71058	.	STX6	-	-	ENSG00000135823		0.453	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	HGNC	protein_coding	OTTHUMT00000085143.1	58	0.00	0	C	NM_005819	Intron	180974600	180974600	-1	no_errors	ENST00000258301	ensembl	human	known	69_37n	splice_site	96	32.64	47	SNP	1.000	G
SYDE2	84144	genome.wustl.edu	37	1	85647955	85647955	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:85647955C>G	ENST00000341460.5	-	3	2419	c.2370G>C	c.(2368-2370)gtG>gtC	p.V790V		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	790					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GAGTCACTTTCACATAAATAA	0.363																																						dbGAP											0													96.0	83.0	87.0					1																	85647955		1823	4082	5905	-	-	-	SO:0001819	synonymous_variant	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2370G>C	1.37:g.85647955C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V790	ENST00000341460.5	37	c.2370	CCDS44169.1	1																																																																																			SYDE2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000097096		0.363	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	51	0.00	0	C			85647955	85647955	-1	no_errors	ENST00000341460	ensembl	human	known	69_37n	silent	48	44.94	40	SNP	1.000	G
SUSD4	55061	genome.wustl.edu	37	1	223438151	223438151	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:223438151C>G	ENST00000343846.3	-	4	1178	c.545G>C	c.(544-546)aGa>aCa	p.R182T	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.R182T|SUSD4_ENST00000484758.2_Missense_Mutation_p.R111T|SUSD4_ENST00000366878.4_Missense_Mutation_p.R182T|SUSD4_ENST00000454695.2_Missense_Mutation_p.R22T|SUSD4_ENST00000494793.2_Missense_Mutation_p.R182T			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	182	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGCTAGAGGTCTCAGGCAGCC	0.468																																						dbGAP											0													50.0	55.0	53.0					1																	223438151		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.545G>C	1.37:g.223438151C>G	ENSP00000344219:p.Arg182Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R182T	ENST00000343846.3	37	c.545	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490750	0.44249	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695;ENST00000271787;ENST00000344029	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.51477	D	0.000083	T	0.72244	0.3436	L	0.40543	1.245	0.80722	D	1	P;D;P	0.63046	0.831;0.992;0.94	P;D;P	0.71656	0.675;0.974;0.671	T	0.68773	-0.5320	10	0.37606	T	0.19	-19.905	18.4555	0.90718	0.0:1.0:0.0:0.0	.	111;182;182	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	T	182;182;111;22;182;182	ENSP00000344219:R182T;ENSP00000355843:R182T;ENSP00000399288:R22T;ENSP00000339926:R182T	ENSP00000271787:R182T	R	-	2	0	SUSD4	221504774	1.000000	0.71417	0.999000	0.59377	0.277000	0.26821	5.864000	0.69575	2.835000	0.97688	0.591000	0.81541	AGA	SUSD4	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000143502		0.468	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	29	0.00	0	C	NM_017982		223438151	223438151	-1	no_errors	ENST00000343846	ensembl	human	known	69_37n	missense	13	62.16	23	SNP	1.000	G
SYNE2	23224	genome.wustl.edu	37	14	64687251	64687251	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:64687251G>C	ENST00000344113.4	+	110	20100	c.19888G>C	c.(19888-19890)Gag>Cag	p.E6630Q	SYNE2_ENST00000554805.1_Missense_Mutation_p.E413Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3015Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E508Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6546Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.E3015Q|SYNE2_ENST00000441438.2_Missense_Mutation_p.E161Q|SYNE2_ENST00000458046.2_Missense_Mutation_p.E287Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3287Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6653Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6630					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)		CGAATCCACAGAGCTCCAAAG	0.552																																						dbGAP											0													56.0	54.0	54.0					14																	64687251		2203	4300	6503	-	-	-	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.19888G>C	14.37:g.64687251G>C	ENSP00000341781:p.Glu6630Gln	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.E6653Q	ENST00000344113.4	37	c.19957	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589671	0.28357	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	6.17	6.17	0.99709	.	0.113072	0.38381	N	0.001708	T	0.70518	0.3233	M	0.79475	2.455	0.80722	D	1	P;P;D;D;D;D;D;D	0.65815	0.812;0.946;0.995;0.995;0.972;0.98;0.958;0.995	P;P;P;P;P;P;P;P	0.62649	0.553;0.847;0.869;0.869;0.905;0.773;0.833;0.804	T	0.70532	-0.4846	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	287;3015;161;287;1018;6546;6630;6653	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	Q	6653;3015;6630;6546;6552;3287;3015;508;413;287;161	ENSP00000350719:E6653Q;ENSP00000349969:E3015Q;ENSP00000341781:E6630Q;ENSP00000452570:E6546Q;ENSP00000450831:E3287Q;ENSP00000378249:E3015Q;ENSP00000451009:E508Q;ENSP00000450605:E413Q;ENSP00000391937:E287Q;ENSP00000396794:E161Q	ENSP00000261678:E6552Q	E	+	1	0	SYNE2	63757004	1.000000	0.71417	0.971000	0.41717	0.017000	0.09413	3.877000	0.56123	2.941000	0.99782	0.655000	0.94253	GAG	SYNE2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000054654		0.552	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	15	0.00	0	G	NM_182914		64687251	64687251	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	1.000	C
SYT11	23208	genome.wustl.edu	37	1	155851240	155851240	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:155851240G>A	ENST00000368324.4	+	4	1490	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	SYT11_ENST00000539162.1_Missense_Mutation_p.E106K	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	413					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ACACTGGAGAGAGGTCTGCGA	0.597																																						dbGAP											0													67.0	75.0	72.0					1																	155851240		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1237G>A	1.37:g.155851240G>A	ENSP00000357307:p.Glu413Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.E413K	ENST00000368324.4	37	c.1237	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754062	0.89843	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.72051	-0.62;-0.62	5.27	5.27	0.74061	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	M	0.85630	2.765	0.80722	D	1	B	0.29835	0.258	B	0.22753	0.041	T	0.72843	-0.4170	10	0.87932	D	0	.	18.6819	0.91549	0.0:0.0:1.0:0.0	.	413	Q9BT88	SYT11_HUMAN	K	413;106	ENSP00000357307:E413K;ENSP00000441657:E106K	ENSP00000357307:E413K	E	+	1	0	SYT11	154117864	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.474000	0.73578	2.748000	0.94277	0.655000	0.94253	GAG	SYT11	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000132718		0.597	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	21	0.00	0	G	NM_152280		155851240	155851240	+1	no_errors	ENST00000368324	ensembl	human	known	69_37n	missense	22	45.00	18	SNP	1.000	A
TAF7L	54457	genome.wustl.edu	37	X	100538494	100538494	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:100538494C>G	ENST00000372907.3	-	4	492	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	TAF7L_ENST00000356784.1_Missense_Mutation_p.E75Q|TAF7L_ENST00000372905.2_Missense_Mutation_p.E75Q|TAF7L_ENST00000324762.6_Missense_Mutation_p.E75Q	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	161					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTCAGGCTTTCAATAACACAA	0.403																																					Ovarian(104;431 1530 3210 15406 18594)	dbGAP											0													190.0	188.0	189.0					X																	100538494		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.481G>C	X.37:g.100538494C>G	ENSP00000361998:p.Glu161Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.E161Q	ENST00000372907.3	37	c.481	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714344	0.48622	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.63580	0.27;0.1;0.1;-0.05	5.68	5.68	0.88126	TAFII55 protein, conserved region (1);	0.356329	0.20582	N	0.089518	T	0.75803	0.3899	M	0.85197	2.74	0.38788	D	0.954917	D;D	0.53619	0.961;0.958	P;P	0.51324	0.666;0.563	T	0.81289	-0.1000	10	0.54805	T	0.06	-9.1958	16.9151	0.86149	0.0:1.0:0.0:0.0	.	161;75	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	Q	161;75;75;75	ENSP00000361998:E161Q;ENSP00000361996:E75Q;ENSP00000320283:E75Q;ENSP00000349235:E75Q	ENSP00000320283:E75Q	E	-	1	0	TAF7L	100425150	1.000000	0.71417	0.474000	0.27266	0.336000	0.28762	6.991000	0.76232	2.372000	0.80975	0.594000	0.82650	GAA	TAF7L	-	pfam_TAFII55_prot_cons_reg	ENSG00000102387		0.403	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	54	0.00	0	C			100538494	100538494	-1	no_errors	ENST00000372907	ensembl	human	known	69_37n	missense	61	36.08	35	SNP	0.968	G
TAS2R38	5726	genome.wustl.edu	37	7	141673190	141673190	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:141673190C>T	ENST00000547270.1	-	1	383	c.300G>A	c.(298-300)atG>atA	p.M100I		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	100					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GGTTTGCAATCATCCATAGCA	0.512																																						dbGAP											0													111.0	110.0	110.0					7																	141673190		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.300G>A	7.37:g.141673190C>T	ENSP00000448219:p.Met100Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.M100I	ENST00000547270.1	37	c.300	CCDS34765.1	7	.	.	.	.	.	.	.	.	.	.	C	5.173	0.217503	0.09810	.	.	ENSG00000257138	ENST00000547270	T	0.36157	1.27	4.7	1.92	0.25849	.	0.279380	0.32287	N	0.006320	T	0.29028	0.0721	L	0.47716	1.5	0.26472	N	0.975262	B	0.22414	0.069	B	0.31290	0.127	T	0.21999	-1.0229	10	0.24483	T	0.36	.	6.9082	0.24321	0.0:0.7104:0.0:0.2896	.	100	P59533	T2R38_HUMAN	I	100	ENSP00000448219:M100I	ENSP00000331291:M100I	M	-	3	0	TAS2R38	141319659	0.014000	0.17966	0.445000	0.26908	0.047000	0.14425	0.237000	0.17985	0.312000	0.23038	-0.126000	0.14955	ATG	TAS2R38	-	pfam_TAS2_rcpt	ENSG00000257138		0.512	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R38	HGNC	protein_coding	OTTHUMT00000350810.2	41	0.00	0	C	NM_176817		141673190	141673190	-1	no_errors	ENST00000547270	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	0.496	T
TAS2R41	259287	genome.wustl.edu	37	7	143175673	143175673	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:143175673C>T	ENST00000408916.1	+	1	708	c.708C>T	c.(706-708)ctC>ctT	p.L236L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	236					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGAAGTCCCTCATCTCCTTCC	0.493																																						dbGAP											0													90.0	98.0	96.0					7																	143175673		2062	4206	6268	-	-	-	SO:0001819	synonymous_variant	0			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.708C>T	7.37:g.143175673C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	pfam_TAS2_rcpt	p.L236	ENST00000408916.1	37	c.708	CCDS43663.1	7																																																																																			TAS2R41	-	pfam_TAS2_rcpt	ENSG00000221855		0.493	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R41	HGNC	protein_coding	OTTHUMT00000342149.1	43	0.00	0	C			143175673	143175673	+1	no_errors	ENST00000408916	ensembl	human	known	69_37n	silent	52	30.67	23	SNP	0.234	T
TBC1D13	54662	genome.wustl.edu	37	9	131566358	131566358	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:131566358C>T	ENST00000372648.5	+	9	1028	c.878C>T	c.(877-879)tCc>tTc	p.S293F	TBC1D13_ENST00000539497.1_Missense_Mutation_p.S112F|TBC1D13_ENST00000223865.8_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	293	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						AAGGTTTACTCCACCTTGAAA	0.522																																						dbGAP											0													109.0	95.0	100.0					9																	131566358		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.878C>T	9.37:g.131566358C>T	ENSP00000361731:p.Ser293Phe	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.S293F	ENST00000372648.5	37	c.878	CCDS6911.1	9	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309279	0.60414	.	.	ENSG00000107021	ENST00000372648;ENST00000539497	T;T	0.11930	2.73;2.73	5.49	5.49	0.81192	Rab-GAP/TBC domain (5);	0.120660	0.56097	D	0.000021	T	0.13670	0.0331	N	0.25647	0.755	0.80722	D	1	B	0.18310	0.027	B	0.24155	0.051	T	0.05649	-1.0872	10	0.52906	T	0.07	-32.3486	18.3687	0.90400	0.0:1.0:0.0:0.0	.	293	Q9NVG8	TBC13_HUMAN	F	293;112	ENSP00000361731:S293F;ENSP00000437751:S112F	ENSP00000361731:S293F	S	+	2	0	TBC1D13	130606179	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.798000	0.55522	2.584000	0.87258	0.555000	0.69702	TCC	TBC1D13	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000107021		0.522	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D13	HGNC	protein_coding	OTTHUMT00000054496.1	29	0.00	0	C	NM_018201		131566358	131566358	+1	no_errors	ENST00000372648	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	1.000	T
TBC1D4	9882	genome.wustl.edu	37	13	75876479	75876479	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:75876479G>A	ENST00000377636.3	-	16	3157	c.2811C>T	c.(2809-2811)ctC>ctT	p.L937L	TBC1D4_ENST00000431480.2_Silent_p.L929L|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000377625.2_Silent_p.L874L|TBC1D4_ENST00000425511.1_Silent_p.L101L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	937	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATCTGTGTCTGAGTCGGTACT	0.443																																						dbGAP											0													132.0	120.0	124.0					13																	75876479		1878	4112	5990	-	-	-	SO:0001819	synonymous_variant	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2811C>T	13.37:g.75876479G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	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.L937	ENST00000377636.3	37	c.2811	CCDS41901.1	13																																																																																			TBC1D4	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000136111		0.443	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	64	0.00	0	G	NM_014832		75876479	75876479	-1	no_errors	ENST00000377636	ensembl	human	known	69_37n	silent	142	22.70	42	SNP	0.005	A
TBCD	6904	genome.wustl.edu	37	17	80714070	80714070	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:80714070C>G	ENST00000355528.4	+	2	344	c.214C>G	c.(214-216)Cat>Gat	p.H72D	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.H72D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	72					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGAGCAGCCTCATCTGTTGGA	0.433																																						dbGAP											0													96.0	91.0	92.0					17																	80714070		1906	4122	6028	-	-	-	SO:0001583	missense	0			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.214C>G	17.37:g.80714070C>G	ENSP00000347719:p.His72Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.H72D	ENST00000355528.4	37	c.214	CCDS45818.1	17	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573949	0.65765	.	.	ENSG00000141556	ENST00000355528;ENST00000536182	T	0.63580	-0.05	4.84	3.85	0.44370	Armadillo-type fold (1);	.	.	.	.	T	0.81004	0.4733	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.83708	0.0186	8	.	.	.	.	13.085	0.59135	0.1619:0.8381:0.0:0.0	.	72;72	Q9BTW9;Q9BTW9-4	TBCD_HUMAN;.	D	72	ENSP00000347719:H72D	.	H	+	1	0	TBCD	78307359	1.000000	0.71417	0.997000	0.53966	0.742000	0.42306	6.642000	0.74329	1.006000	0.39211	0.655000	0.94253	CAT	TBCD	-	superfamily_ARM-type_fold	ENSG00000141556		0.433	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	85	0.00	0	C	NM_005993		80714070	80714070	+1	no_errors	ENST00000355528	ensembl	human	known	69_37n	missense	79	37.80	48	SNP	1.000	G
TBL3	10607	genome.wustl.edu	37	16	2025431	2025431	+	Missense_Mutation	SNP	G	G	C	rs368326572		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:2025431G>C	ENST00000568546.1	+	9	925	c.797G>C	c.(796-798)gGc>gCc	p.G266A		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	266					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CTGACAGCTGGCGACCAAGGT	0.642																																					Melanoma(118;616 1651 35077 38081 48633)	dbGAP											0													82.0	84.0	83.0					16																	2025431		2198	4300	6498	-	-	-	SO:0001583	missense	0			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.797G>C	16.37:g.2025431G>C	ENSP00000454836:p.Gly266Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G266A	ENST00000568546.1	37	c.797	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310626	0.60414	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.615661	0.15275	N	0.271027	D	0.83672	0.5305	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.91635	0.961;0.999	D	0.84365	0.0540	9	0.52906	T	0.07	-25.612	17.3618	0.87353	0.0:0.0:1.0:0.0	.	28;266	A0JLS5;Q12788	.;TBL3_HUMAN	A	266	.	ENSP00000331815:G266A	G	+	2	0	TBL3	1965432	1.000000	0.71417	0.801000	0.32222	0.086000	0.17979	6.792000	0.75125	2.325000	0.78763	0.655000	0.94253	GGC	TBL3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000183751		0.642	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	47	0.00	0	G	NM_006453		2025431	2025431	+1	no_errors	ENST00000568546	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	1.000	C
TCF7L2	6934	genome.wustl.edu	37	10	114918464	114918464	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:114918464C>T	ENST00000355995.4	+	13	1864	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000369386.1_Intron|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000545257.1_Missense_Mutation_p.P453S|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P430S|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P453S|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P453S|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P430S|TCF7L2_ENST00000542695.1_Missense_Mutation_p.P169S|TCF7L2_ENST00000543371.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	453					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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 type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCTTTCACTTCCTCCGATTAC	0.279			T	VTI1A	colorectal																																	dbGAP		Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													107.0	103.0	104.0					10																	114918464		2202	4300	6502	-	-	-	SO:0001583	missense	0			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1357C>T	10.37:g.114918464C>T	ENSP00000348274:p.Pro453Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P453S	ENST00000355995.4	37	c.1357		10	.	.	.	.	.	.	.	.	.	.	c	16.72	3.201806	0.58234	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695	D;D;D;D;D;D;D	0.99201	-4.94;-4.93;-5.55;-5.5;-4.95;-5.49;-4.98	5.67	5.67	0.87782	.	0.268647	0.35615	N	0.003098	D	0.99004	0.9660	L	0.50333	1.59	0.80722	D	1	D;D;P;B;D;B;D;D;D;D;D;D	0.71674	0.993;0.967;0.629;0.236;0.993;0.139;0.997;0.998;0.997;0.997;0.998;0.997	D;P;B;B;D;B;D;D;D;D;D;D	0.80764	0.968;0.901;0.218;0.075;0.979;0.055;0.986;0.994;0.986;0.986;0.994;0.986	D	0.99908	1.1188	10	0.59425	D	0.04	-9.7245	19.7706	0.96363	0.0:1.0:0.0:0.0	.	310;270;352;453;324;368;426;430;430;435;426;430	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;C6ZRK1;C6ZRJ7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.	S	453;453;453;453;430;430;169	ENSP00000348274:P453S;ENSP00000440547:P453S;ENSP00000446172:P453S;ENSP00000443626:P453S;ENSP00000358404:P430S;ENSP00000344823:P430S;ENSP00000443883:P169S	ENSP00000344823:P430S	P	+	1	0	TCF7L2	114908454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.343000	0.79319	2.697000	0.92050	0.655000	0.94253	CCT	TCF7L2	-	NULL	ENSG00000148737		0.279	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		78	0.00	0	C	NM_030756		114918464	114918464	+1	no_errors	ENST00000355995	ensembl	human	known	69_37n	missense	79	42.86	60	SNP	1.000	T
TDRD10	126668	genome.wustl.edu	37	1	154516499	154516499	+	Silent	SNP	C	C	G	rs201077832		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:154516499C>G	ENST00000368480.3	+	9	649	c.564C>G	c.(562-564)ctC>ctG	p.L188L	TDRD10_ENST00000368482.4_Silent_p.L188L|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	188							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L188L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCTGGCACTCATCCATAGCG	0.602																																						dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											148.0	127.0	134.0					1																	154516499		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.564C>G	1.37:g.154516499C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L188	ENST00000368480.3	37	c.564	CCDS41406.1	1																																																																																			TDRD10	-	NULL	ENSG00000163239		0.602	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	70	0.00	0	C	NM_182499		154516499	154516499	+1	no_errors	ENST00000368480	ensembl	human	known	69_37n	silent	65	30.53	29	SNP	0.004	G
TEC	7006	genome.wustl.edu	37	4	48147487	48147487	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:48147487G>C	ENST00000381501.3	-	13	1348	c.1191C>G	c.(1189-1191)atC>atG	p.I397M	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	397	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GAATAGCTTTGATTGCGACTT	0.438																																						dbGAP											0													167.0	143.0	151.0					4																	48147487		2203	4300	6503	-	-	-	SO:0001583	missense	0			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1191C>G	4.37:g.48147487G>C	ENSP00000370912:p.Ile397Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,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_SH3_domain,prints_SH2,prints_Znf_Btk_motif,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom	p.I397M	ENST00000381501.3	37	c.1191	CCDS3481.1	4	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282931	0.59867	.	.	ENSG00000135605	ENST00000381501	D	0.85339	-1.97	5.62	4.77	0.60923	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	L	0.41236	1.265	0.44110	D	0.99688	D	0.89917	1.0	D	0.97110	1.0	D	0.89677	0.3888	10	0.87932	D	0	.	14.9161	0.70798	0.07:0.0:0.93:0.0	.	397	P42680	TEC_HUMAN	M	397	ENSP00000370912:I397M	ENSP00000370912:I397M	I	-	3	3	TEC	47842244	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	2.389000	0.44407	2.644000	0.89710	0.491000	0.48974	ATC	TEC	-	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	ENSG00000135605		0.438	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEC	HGNC	protein_coding	OTTHUMT00000250492.3	62	0.00	0	G			48147487	48147487	-1	no_errors	ENST00000381501	ensembl	human	known	69_37n	missense	56	12.50	8	SNP	1.000	C
TEFM	79736	genome.wustl.edu	37	17	29226406	29226406	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:29226406C>A	ENST00000581216.1	-	4	1485	c.864G>T	c.(862-864)atG>atT	p.M288I	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	288					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										AGTCACCAATCATCAGTTCAA	0.453																																						dbGAP											0													129.0	126.0	127.0					17																	29226406		1915	4137	6052	-	-	-	SO:0001583	missense	0				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.864G>T	17.37:g.29226406C>A	ENSP00000462963:p.Met288Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.M288I	ENST00000581216.1	37	c.864	CCDS42291.1	17	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882173	0.72294	.	.	ENSG00000172171	ENST00000306049	.	.	.	5.97	5.01	0.66863	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	M	0.76574	2.34	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	T	0.62793	-0.6779	9	0.41790	T	0.15	-3.4821	12.0998	0.53776	0.0:0.8587:0.0:0.1413	.	288	Q96QE5	TEFM_HUMAN	I	288	.	ENSP00000306574:M288I	M	-	3	0	C17orf42	26250532	1.000000	0.71417	0.917000	0.36280	0.958000	0.62258	4.179000	0.58290	1.540000	0.49301	0.650000	0.86243	ATG	TEFM	-	superfamily_RNaseH-like_dom	ENSG00000172171		0.453	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEFM	HGNC	protein_coding	OTTHUMT00000444498.1	37	0.00	0	C	NM_024683		29226406	29226406	-1	no_errors	ENST00000581216	ensembl	human	known	69_37n	missense	38	50.00	38	SNP	1.000	A
TELO2	9894	genome.wustl.edu	37	16	1544312	1544312	+	Silent	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:1544312C>A	ENST00000262319.6	+	2	309	c.30C>A	c.(28-30)ctC>ctA	p.L10L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	10					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGGTTCGACTCGCCGTCCGGG	0.622											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													69.0	66.0	67.0					16																	1544312		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.30C>A	16.37:g.1544312C>A		Somatic	596	WXS	Illumina GAIIx	Phase_IV	D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.L10	ENST00000262319.6	37	c.30	CCDS32363.1	16																																																																																			TELO2	-	NULL	ENSG00000100726		0.622	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	17	0.00	0	C	NM_016111		1544312	1544312	+1	no_errors	ENST00000262319	ensembl	human	known	69_37n	silent	9	50.00	9	SNP	0.000	A
TERT	7015	genome.wustl.edu	37	5	1293843	1293843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:1293843G>T	ENST00000310581.5	-	2	1215	c.1158C>A	c.(1156-1158)taC>taA	p.Y386*	TERT_ENST00000296820.5_Nonsense_Mutation_p.Y386*|TERT_ENST00000334602.6_Nonsense_Mutation_p.Y386*|TERT_ENST00000508104.2_Nonsense_Mutation_p.Y386*|TERT_ENST00000522877.1_5'Flank	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	386	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCATTTGCCAGTAGCGCTGGG	0.677									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													dbGAP											0													11.0	13.0	12.0					5																	1293843		2163	4274	6437	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1158C>A	5.37:g.1293843G>T	ENSP00000309572:p.Tyr386*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Nonsense_Mutation	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,prints_Telomerase_RT,pfscan_RVT	p.Y386*	ENST00000310581.5	37	c.1158	CCDS3861.2	5	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765063	0.69878	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	.	.	.	4.27	1.29	0.21616	.	0.129359	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9096	8.1279	0.31010	0.4439:0.0:0.5561:0.0	.	.	.	.	X	386	.	ENSP00000296820:Y386X	Y	-	3	2	TERT	1346843	1.000000	0.71417	0.996000	0.52242	0.771000	0.43674	1.210000	0.32370	0.232000	0.21100	-0.311000	0.09066	TAC	TERT	-	NULL	ENSG00000164362		0.677	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2	9	0.00	0	G			1293843	1293843	-1	no_errors	ENST00000310581	ensembl	human	known	69_37n	nonsense	12	36.84	7	SNP	0.994	T
TEX11	56159	genome.wustl.edu	37	X	69898656	69898656	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:69898656C>T	ENST00000395889.2	-	16	1440	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	TEX11_ENST00000374320.2_Missense_Mutation_p.E104K|TEX11_ENST00000374333.2_Missense_Mutation_p.E414K|TEX11_ENST00000344304.3_Missense_Mutation_p.E429K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	429					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTCAAACCTCAAAACTACTG	0.328																																						dbGAP											0													108.0	94.0	98.0					X																	69898656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1285G>A	X.37:g.69898656C>T	ENSP00000379226:p.Glu429Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.E429K	ENST00000395889.2	37	c.1285	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929948	0.52759	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.58	0.699	0.18093	Tetratricopeptide-like helical (1);	0.212918	0.39341	N	0.001395	T	0.48352	0.1495	N	0.25426	0.745	0.25860	N	0.983836	B;B	0.28291	0.172;0.206	B;B	0.27500	0.048;0.08	T	0.24404	-1.0161	9	.	.	.	-1.09	3.7112	0.08420	0.0:0.4863:0.1872:0.3265	.	414;429	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	K	414;429;104;429	ENSP00000363453:E414K;ENSP00000379226:E429K;ENSP00000363440:E104K;ENSP00000340995:E429K	.	E	-	1	0	TEX11	69815381	0.999000	0.42202	0.991000	0.47740	0.773000	0.43773	0.271000	0.18626	-0.178000	0.10672	0.513000	0.50165	GAG	TEX11	-	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	ENSG00000120498		0.328	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	90	0.00	0	C			69898656	69898656	-1	no_errors	ENST00000344304	ensembl	human	known	69_37n	missense	126	18.18	28	SNP	0.999	T
TFCP2	7024	genome.wustl.edu	37	12	51512435	51512435	+	Silent	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:51512435G>C	ENST00000257915.5	-	2	701	c.243C>G	c.(241-243)ctC>ctG	p.L81L	TFCP2_ENST00000549867.1_Silent_p.L81L|TFCP2_ENST00000548115.1_Silent_p.L81L|TFCP2_ENST00000307660.4_Silent_p.L81L	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	81					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						TTTCATCATGGAGTTTCACTG	0.368																																						dbGAP											0													175.0	164.0	168.0					12																	51512435		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.243C>G	12.37:g.51512435G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E9|Q12801|Q9UD75|Q9UD77	Silent	SNP	pfam_CP2,superfamily_SAM/pointed	p.L81	ENST00000257915.5	37	c.243	CCDS8808.1	12																																																																																			TFCP2	-	pfam_CP2	ENSG00000135457		0.368	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	65	0.00	0	G	NM_005653		51512435	51512435	-1	no_errors	ENST00000257915	ensembl	human	known	69_37n	silent	69	14.81	12	SNP	0.997	C
TGM7	116179	genome.wustl.edu	37	15	43574073	43574073	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:43574073C>G	ENST00000452443.2	-	9	1324	c.1320G>C	c.(1318-1320)caG>caC	p.Q440H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	440					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGGTGATGCTCTGGCGCTGGT	0.572																																						dbGAP											0													102.0	73.0	83.0					15																	43574073		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1320G>C	15.37:g.43574073C>G	ENSP00000389466:p.Gln440His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.Q440H	ENST00000452443.2	37	c.1320	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168054	0.57476	.	.	ENSG00000159495	ENST00000452443	T	0.74842	-0.88	5.36	-0.968	0.10313	.	0.268048	0.36893	N	0.002351	T	0.63581	0.2523	L	0.39898	1.24	0.25521	N	0.98736	P	0.52842	0.956	P	0.46975	0.533	T	0.59375	-0.7466	10	0.54805	T	0.06	-10.7126	6.0955	0.20019	0.0:0.5192:0.1254:0.3554	.	440	Q96PF1	TGM7_HUMAN	H	440	ENSP00000389466:Q440H	ENSP00000389466:Q440H	Q	-	3	2	TGM7	41361365	0.014000	0.17966	0.937000	0.37676	0.938000	0.57974	-0.205000	0.09411	-0.200000	0.10300	-0.127000	0.14921	CAG	TGM7	-	NULL	ENSG00000159495		0.572	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1	27	0.00	0	C	NM_052955		43574073	43574073	-1	no_errors	ENST00000452443	ensembl	human	known	69_37n	missense	32	37.25	19	SNP	0.962	G
THADA	63892	genome.wustl.edu	37	2	43813569	43813569	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:43813569C>G	ENST00000405006.4	-	7	855	c.504G>C	c.(502-504)aaG>aaC	p.K168N	THADA_ENST00000402360.2_Missense_Mutation_p.K168N|THADA_ENST00000405975.2_Missense_Mutation_p.K168N|THADA_ENST00000404790.1_Missense_Mutation_p.K168N|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000403856.1_Missense_Mutation_p.K168N	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	168										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAATTAAACTCTTCTGCAGAA	0.289																																						dbGAP											0													54.0	49.0	50.0					2																	43813569		1808	4069	5877	-	-	-	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.504G>C	2.37:g.43813569C>G	ENSP00000385995:p.Lys168Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.K168N	ENST00000405006.4	37	c.504	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150568	0.57151	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.42131	2.46;2.46;1.04;1.03;0.98	5.35	4.46	0.54185	.	0.181617	0.46145	D	0.000314	T	0.55449	0.1921	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.76494	0.998;0.996;0.999;0.993	D;P;D;P	0.69142	0.962;0.9;0.957;0.796	T	0.49799	-0.8901	10	0.31617	T	0.26	-0.7285	11.4189	0.49969	0.0:0.9163:0.0:0.0837	.	168;168;168;168	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	N	168	ENSP00000386088:K168N;ENSP00000385995:K168N;ENSP00000385441:K168N;ENSP00000384266:K168N;ENSP00000385469:K168N	ENSP00000349464:K168N	K	-	3	2	THADA	43667073	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.863000	0.48396	2.493000	0.84123	0.655000	0.94253	AAG	THADA	-	NULL	ENSG00000115970		0.289	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	50	0.00	0	C	NM_022065		43813569	43813569	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	98	24.43	32	SNP	1.000	G
THOC5	8563	genome.wustl.edu	37	22	29932688	29932688	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:29932688C>G	ENST00000490103.1	-	7	761	c.639G>C	c.(637-639)gaG>gaC	p.E213D	THOC5_ENST00000397871.1_Missense_Mutation_p.E213D|THOC5_ENST00000397873.2_Missense_Mutation_p.E213D|THOC5_ENST00000397872.1_Missense_Mutation_p.E213D|CTA-256D12.11_ENST00000411969.1_RNA	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	213					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAGAATCTTCTCCTTGTTAG	0.537																																						dbGAP											0													179.0	150.0	160.0					22																	29932688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.639G>C	22.37:g.29932688C>G	ENSP00000420306:p.Glu213Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O60839|Q9UPZ5	Missense_Mutation	SNP	pfam_THO_Thoc5	p.E213D	ENST00000490103.1	37	c.639	CCDS13859.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.37|17.37	3.372374|3.372374	0.61624|0.61624	.|.	.|.	ENSG00000100296|ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771|ENST00000443089	T;T;T;T|.	0.24538|.	1.85;1.85;1.85;1.85|.	5.58|5.58	3.47|3.47	0.39725|0.39725	.|.	0.047775|0.047775	0.85682|0.85682	N|D	0.000000|0.000000	T|T	0.56499|0.56499	0.1989|0.1989	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999995|0.999995	B;B|.	0.33171|.	0.148;0.4|.	B;B|.	0.34180|.	0.048;0.177|.	T|T	0.47142|0.47142	-0.9140|-0.9140	10|7	0.29301|0.11794	T|T	0.29|0.64	-2.1361|-2.1361	10.4035|10.4035	0.44243|0.44243	0.1351:0.7954:0.0:0.0695|0.1351:0.7954:0.0:0.0695	.|.	213;213|.	F8WCP5;Q13769|.	.;THOC5_HUMAN|.	D|Q	213|73	ENSP00000420306:E213D;ENSP00000380970:E213D;ENSP00000380969:E213D;ENSP00000380971:E213D|.	ENSP00000380969:E213D|ENSP00000393247:E73Q	E|E	-|-	3|1	2|0	THOC5|THOC5	28262688|28262688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	2.022000|2.022000	0.41030|0.41030	0.710000|0.710000	0.31997|0.31997	0.455000|0.455000	0.32223|0.32223	GAG|GAA	THOC5	-	pfam_THO_Thoc5	ENSG00000100296		0.537	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	HGNC	protein_coding	OTTHUMT00000322097.1	68	0.00	0	C	NM_003678		29932688	29932688	-1	no_errors	ENST00000397871	ensembl	human	known	69_37n	missense	52	33.33	26	SNP	1.000	G
TMED7	51014	genome.wustl.edu	37	5	114956158	114956158	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:114956158C>T	ENST00000456936.3	-	2	792	c.412G>A	c.(412-414)Gag>Aag	p.E138K	TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.E138K|AC010226.4_ENST00000508517.1_RNA|AC010226.4_ENST00000515570.1_RNA|TICAM2_ENST00000408996.4_Missense_Mutation_p.E138K|TMED7_ENST00000503010.1_5'UTR|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.E138K	NM_181836.5	NP_861974.1	Q9Y3B3	TMED7_HUMAN	transmembrane emp24 protein transport domain containing 7	138				DPPLFPSEN -> THLCFLVD (in Ref. 1; AAD34104). {ECO:0000305}.	protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|COPII vesicle coat (GO:0030127)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		ACTCGGTTCTCACTAGGAAAC	0.318																																					Pancreas(167;237 2002 3207 14549 49356)	dbGAP											0													81.0	86.0	84.0					5																	114956158		2200	4299	6499	-	-	-	SO:0001583	missense	0			AK074962	CCDS4120.1	5q22.3	2011-04-19			ENSG00000134970	ENSG00000134970			24253	protein-coding gene	gene with protein product						10810093	Standard	NM_181836		Approved	CGI-109, FLJ90481		Q9Y3B3	OTTHUMG00000132013	ENST00000456936.3:c.412G>A	5.37:g.114956158C>T	ENSP00000405926:p.Glu138Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBU8|Q8WUU6|Q96K51	Missense_Mutation	SNP	pfam_GOLD,pfam_TIR_dom,superfamily_GOLD,superfamily_TIR_dom,pfscan_GOLD,pfscan_TIR_dom	p.E138K	ENST00000456936.3	37	c.412	CCDS4120.1	5	.	.	.	.	.	.	.	.	.	.	c	21.1	4.094592	0.76870	.	.	ENSG00000243414;ENSG00000251201;ENSG00000251201;ENSG00000134970	ENST00000408996;ENST00000282382;ENST00000333314;ENST00000456936	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	6.02	6.02	0.97574	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.39326	1.205	0.80722	D	1	B;D	0.71674	0.064;0.998	B;D	0.69824	0.079;0.966	T	0.01371	-1.1372	10	0.06625	T	0.88	-24.0135	19.3087	0.94175	0.0:1.0:0.0:0.0	.	138;138	Q9Y3B3;Q6JUT2	TMED7_HUMAN;.	K	138	ENSP00000386341:E138K;ENSP00000282382:E138K;ENSP00000333650:E138K;ENSP00000405926:E138K	ENSP00000405926:E138K	E	-	1	0	TMED7;TICAM2;TMED7-TICAM2	114984057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.019000	0.70818	2.857000	0.98124	0.650000	0.86243	GAG	TICAM2	-	pfam_GOLD,superfamily_GOLD	ENSG00000243414		0.318	TMED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM2	HGNC	protein_coding	OTTHUMT00000254990.4	41	0.00	0	C	NM_181836		114956158	114956158	-1	no_errors	ENST00000408996	ensembl	human	known	69_37n	missense	45	23.73	14	SNP	1.000	T
TLN2	83660	genome.wustl.edu	37	15	63053955	63053955	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:63053955G>A	ENST00000561311.1	+	37	4944	c.4714G>A	c.(4714-4716)Gag>Aag	p.E1572K	TLN2_ENST00000472902.1_5'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.E1572K			Q9Y4G6	TLN2_HUMAN	talin 2	1572					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGAAGCTGTGGAGAACCTGAC	0.522																																						dbGAP											0													187.0	161.0	170.0					15																	63053955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4714G>A	15.37:g.63053955G>A	ENSP00000453508:p.Glu1572Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.E1572K	ENST00000561311.1	37	c.4714	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497534	0.64186	.	.	ENSG00000171914	ENST00000306829	T	0.67345	-0.26	5.34	5.34	0.76211	.	0.045723	0.85682	D	0.000000	T	0.69806	0.3152	L	0.49126	1.545	0.80722	D	1	P	0.45474	0.859	P	0.48873	0.593	T	0.65821	-0.6075	10	0.25751	T	0.34	-30.6191	19.0576	0.93072	0.0:0.0:1.0:0.0	.	1572	Q9Y4G6	TLN2_HUMAN	K	1572	ENSP00000303476:E1572K	ENSP00000303476:E1572K	E	+	1	0	TLN2	60841247	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	9.705000	0.98719	2.498000	0.84270	0.563000	0.77884	GAG	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.522	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	40	0.00	0	G			63053955	63053955	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	42	31.15	19	SNP	1.000	A
TM9SF4	9777	genome.wustl.edu	37	20	30733156	30733156	+	Silent	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:30733156G>T	ENST00000398022.2	+	8	1048	c.813G>T	c.(811-813)ctG>ctT	p.L271L	TM9SF4_ENST00000217315.5_Silent_p.L254L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	271						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACACTTACCTGACCATGAGTG	0.517																																						dbGAP											0													189.0	158.0	168.0					20																	30733156		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.813G>T	20.37:g.30733156G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYT7|Q9NUA3	Silent	SNP	pfam_EMP70	p.L271	ENST00000398022.2	37	c.813	CCDS13196.2	20																																																																																			TM9SF4	-	pfam_EMP70	ENSG00000101337		0.517	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	HGNC	protein_coding	OTTHUMT00000323568.1	80	0.00	0	G	NM_014742		30733156	30733156	+1	no_errors	ENST00000398022	ensembl	human	known	69_37n	silent	84	20.75	22	SNP	0.930	T
TMEM104	54868	genome.wustl.edu	37	17	72832298	72832298	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:72832298C>G	ENST00000335464.5	+	10	1125	c.963C>G	c.(961-963)ctC>ctG	p.L321L	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.L321L	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	321						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACGGCCTCCTCTCCTTCACCG	0.622																																						dbGAP											0													253.0	192.0	213.0					17																	72832298		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.963C>G	17.37:g.72832298C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	pfam_AA_transpt_TM	p.L321	ENST00000335464.5	37	c.963	CCDS32723.1	17																																																																																			TMEM104	-	pfam_AA_transpt_TM	ENSG00000109066		0.622	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	47	0.00	0	C	NM_017728		72832298	72832298	+1	no_errors	ENST00000335464	ensembl	human	known	69_37n	silent	31	27.91	12	SNP	0.994	G
TMEM117	84216	genome.wustl.edu	37	12	44693420	44693420	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:44693420C>T	ENST00000266534.3	+	6	793	c.666C>T	c.(664-666)atC>atT	p.I222I	TMEM117_ENST00000536799.1_Silent_p.I118I|TMEM117_ENST00000551577.1_Silent_p.I222I	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	222						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CGGACTGGATCAGCTGGGACA	0.413																																						dbGAP											0													263.0	240.0	248.0					12																	44693420		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.666C>T	12.37:g.44693420C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.I222	ENST00000266534.3	37	c.666	CCDS8745.1	12																																																																																			TMEM117	-	NULL	ENSG00000139173		0.413	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	114	0.00	0	C	NM_032256		44693420	44693420	+1	no_errors	ENST00000266534	ensembl	human	known	69_37n	silent	97	39.13	63	SNP	1.000	T
TMEM126A	84233	genome.wustl.edu	37	11	85365293	85365293	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:85365293G>T	ENST00000304511.2	+	3	382	c.273G>T	c.(271-273)ttG>ttT	p.L91F	TMEM126A_ENST00000532180.1_Missense_Mutation_p.L21F|TMEM126A_ENST00000528105.1_Missense_Mutation_p.L21F	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	91					optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTTTTCCTTTGAATACAGGTA	0.363																																						dbGAP											0													95.0	90.0	92.0					11																	85365293		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.273G>T	11.37:g.85365293G>T	ENSP00000306887:p.Leu91Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R570|E9PI16	Missense_Mutation	SNP	pfam_DUF1370_TMEM126	p.L91F	ENST00000304511.2	37	c.273	CCDS8268.1	11	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211715	0.39102	.	.	ENSG00000171202	ENST00000528105;ENST00000304511;ENST00000532180	T;T;T	0.48836	0.8;0.8;0.8	5.78	2.91	0.33838	.	0.062472	0.64402	D	0.000004	T	0.65616	0.2708	M	0.80422	2.495	0.44110	D	0.996889	D	0.76494	0.999	D	0.77557	0.99	T	0.64257	-0.6450	9	.	.	.	-2.2983	9.0597	0.36427	0.3136:0.0:0.6864:0.0	.	91	Q9H061	T126A_HUMAN	F	21;91;21	ENSP00000436590:L21F;ENSP00000306887:L91F;ENSP00000434357:L21F	.	L	+	3	2	TMEM126A	85042941	1.000000	0.71417	0.993000	0.49108	0.122000	0.20287	2.615000	0.46368	0.461000	0.27071	0.655000	0.94253	TTG	TMEM126A	-	pfam_DUF1370_TMEM126	ENSG00000171202		0.363	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM126A	HGNC	protein_coding	OTTHUMT00000392177.1	31	0.00	0	G	NM_032273		85365293	85365293	+1	no_errors	ENST00000304511	ensembl	human	known	69_37n	missense	21	57.14	28	SNP	0.994	T
TMEM145	284339	genome.wustl.edu	37	19	42820839	42820839	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:42820839C>A	ENST00000301204.3	+	10	794	c.753C>A	c.(751-753)ttC>ttA	p.F251L	TMEM145_ENST00000598766.1_Missense_Mutation_p.F275L	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	251					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CCTCCAGCTTCCTCATCTTCC	0.667																																						dbGAP											0													85.0	78.0	80.0					19																	42820839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.753C>A	19.37:g.42820839C>A	ENSP00000301204:p.Phe251Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.F251L	ENST00000301204.3	37	c.753	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916642	0.73098	.	.	ENSG00000167619	ENST00000301204	T	0.41400	1.0	3.76	3.76	0.43208	Rhodopsin-like GPCR transmembrane domain (1);	0.000000	0.64402	D	0.000001	T	0.40862	0.1134	L	0.47716	1.5	0.53688	D	0.999972	P	0.42123	0.771	P	0.45474	0.482	T	0.17228	-1.0376	10	0.22706	T	0.39	-24.2685	13.4686	0.61270	0.0:1.0:0.0:0.0	.	251	Q8NBT3	TM145_HUMAN	L	251	ENSP00000301204:F251L	ENSP00000301204:F251L	F	+	3	2	TMEM145	47512679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.964000	0.40462	1.838000	0.53458	0.455000	0.32223	TTC	TMEM145	-	pfam_Rhodopsin-like_GPCR_TM_domain	ENSG00000167619		0.667	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	39	0.00	0	C	NM_173633		42820839	42820839	+1	no_errors	ENST00000301204	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	1.000	A
TMEM192	201931	genome.wustl.edu	37	4	166024129	166024129	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:166024129G>C	ENST00000306480.6	-	2	292	c.147C>G	c.(145-147)atC>atG	p.I49M	TMEM192_ENST00000506087.1_Missense_Mutation_p.I45M	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	49						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GATTCACTATGATGACTGTAG	0.438																																						dbGAP											0													144.0	142.0	142.0					4																	166024129		1899	4119	6018	-	-	-	SO:0001583	missense	0			BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.147C>G	4.37:g.166024129G>C	ENSP00000305069:p.Ile49Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3A1|Q8N928	Missense_Mutation	SNP	NULL	p.I49M	ENST00000306480.6	37	c.147	CCDS43279.1	4	.	.	.	.	.	.	.	.	.	.	G	9.523	1.108889	0.20714	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.28	4.43	0.53597	.	0.494819	0.24920	N	0.034541	T	0.44329	0.1288	M	0.68317	2.08	0.26920	N	0.966696	P	0.49090	0.919	P	0.46208	0.507	T	0.36138	-0.9760	9	0.30078	T	0.28	-32.9509	9.9405	0.41578	0.0746:0.0:0.7859:0.1395	.	49	Q8IY95	TM192_HUMAN	M	49;45	.	ENSP00000305069:I49M	I	-	3	3	TMEM192	166243579	0.965000	0.33210	0.977000	0.42913	0.005000	0.04900	0.432000	0.21461	1.332000	0.45431	0.561000	0.74099	ATC	TMEM192	-	NULL	ENSG00000170088		0.438	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM192	HGNC	protein_coding	OTTHUMT00000364310.3	76	0.00	0	G	NM_152681		166024129	166024129	-1	no_errors	ENST00000306480	ensembl	human	known	69_37n	missense	47	52.04	51	SNP	0.997	C
TMEM207	131920	genome.wustl.edu	37	3	190167527	190167527	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:190167527G>T	ENST00000354905.2	-	1	138	c.72C>A	c.(70-72)ttC>ttA	p.F24L		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	24						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		TAGTTACCTGGAATAGCGGCA	0.408																																						dbGAP											0													148.0	124.0	132.0					3																	190167527		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC071780	CCDS3297.1	3q28	2008-02-18			ENSG00000198398	ENSG00000198398			33705	protein-coding gene	gene with protein product		614786					Standard	NM_207316		Approved		uc003fsj.2	Q6UWW9	OTTHUMG00000156213	ENST00000354905.2:c.72C>A	3.37:g.190167527G>T	ENSP00000346981:p.Phe24Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.F24L	ENST00000354905.2	37	c.72	CCDS3297.1	3	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713661	0.15306	.	.	ENSG00000198398	ENST00000354905	T	0.09073	3.02	5.29	3.5	0.40072	.	0.381500	0.21888	N	0.067621	T	0.08626	0.0214	L	0.47716	1.5	0.32285	N	0.567101	P	0.52061	0.95	B	0.41510	0.359	T	0.12528	-1.0544	10	0.87932	D	0	-0.1628	8.2376	0.31636	0.1857:0.0:0.8143:0.0	.	24	Q6UWW9	TM207_HUMAN	L	24	ENSP00000346981:F24L	ENSP00000346981:F24L	F	-	3	2	TMEM207	191650221	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	1.827000	0.39102	0.721000	0.32231	0.585000	0.79938	TTC	TMEM207	-	NULL	ENSG00000198398		0.408	TMEM207-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM207	HGNC	protein_coding	OTTHUMT00000343515.1	33	0.00	0	G	NM_207316		190167527	190167527	-1	no_errors	ENST00000354905	ensembl	human	known	69_37n	missense	49	25.37	17	SNP	1.000	T
TMEM68	137695	genome.wustl.edu	37	8	56668876	56668876	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:56668876G>T	ENST00000434581.2	-	4	619	c.420C>A	c.(418-420)ttC>ttA	p.F140L	TMEM68_ENST00000519784.1_Missense_Mutation_p.F26L|TMEM68_ENST00000334667.2_Missense_Mutation_p.F140L|TMEM68_ENST00000523073.1_Missense_Mutation_p.F26L			Q96MH6	TMM68_HUMAN	transmembrane protein 68	140						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)			TTTTAGCCATGAAATAGTAAA	0.323																																						dbGAP											0													49.0	53.0	52.0					8																	56668876		2202	4295	6497	-	-	-	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.420C>A	8.37:g.56668876G>T	ENSP00000395204:p.Phe140Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X6|Q8WUD2	Nonsense_Mutation	SNP	NULL	p.S79*	ENST00000434581.2	37	c.236		8	.	.	.	.	.	.	.	.	.	.	G	7.980	0.750929	0.15778	.	.	ENSG00000167904	ENST00000434581;ENST00000334667;ENST00000519784;ENST00000523073;ENST00000519780;ENST00000522090;ENST00000523423	D;D;D;D;D;D	0.95272	-2.53;-2.53;-3.66;-3.66;-3.66;-2.53	5.46	3.42	0.39159	Phospholipid/glycerol acyltransferase (2);	0.050117	0.85682	N	0.000000	D	0.86314	0.5903	N	0.25380	0.74	0.80722	D	1	P;B	0.42375	0.778;0.193	B;B	0.38194	0.262;0.267	D	0.83768	0.0218	10	0.06625	T	0.88	-11.1488	8.6965	0.34298	0.2821:0.0:0.7179:0.0	.	140;140	Q96MH6-2;Q96MH6	.;TMM68_HUMAN	L	140;140;26;26;26;140;140	ENSP00000395204:F140L;ENSP00000335416:F140L;ENSP00000428688:F26L;ENSP00000429026:F26L;ENSP00000429667:F26L;ENSP00000430542:F140L	ENSP00000335416:F140L	F	-	3	2	TMEM68	56831430	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.868000	0.27982	1.319000	0.45190	0.591000	0.81541	TTC	TMEM68	-	NULL	ENSG00000167904		0.323	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	TMEM68	HGNC	protein_coding	OTTHUMT00000378137.1	26	0.00	0	G	NM_152417		56668876	56668876	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520061	ensembl	human	known	69_37n	nonsense	55	15.38	10	SNP	1.000	T
TMEM65	157378	genome.wustl.edu	37	8	125326227	125326227	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:125326227C>G	ENST00000297632.6	-	7	1231	c.697G>C	c.(697-699)Gat>Cat	p.D233H		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	233						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGTTTTTCATCTTCTTCACCT	0.343																																						dbGAP											0													87.0	82.0	84.0					8																	125326227		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC032396	CCDS6348.1	8q24.13	2006-11-24			ENSG00000164983	ENSG00000164983			25203	protein-coding gene	gene with protein product						12477932	Standard	NM_194291		Approved		uc010mdl.3	Q6PI78	OTTHUMG00000165021	ENST00000297632.6:c.697G>C	8.37:g.125326227C>G	ENSP00000297632:p.Asp233His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5G8|Q8WVK5	Missense_Mutation	SNP	pfam_Transmembrane_protein_65	p.D233H	ENST00000297632.6	37	c.697	CCDS6348.1	8	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704275	0.68615	.	.	ENSG00000164983	ENST00000297632	T	0.48522	0.81	5.32	5.32	0.75619	.	0.411181	0.26355	N	0.024851	T	0.52338	0.1728	L	0.34521	1.04	0.54753	D	0.999984	D	0.65815	0.995	P	0.54499	0.754	T	0.53521	-0.8427	10	0.62326	D	0.03	.	17.3644	0.87359	0.0:1.0:0.0:0.0	.	233	Q6PI78	TMM65_HUMAN	H	233	ENSP00000297632:D233H	ENSP00000297632:D233H	D	-	1	0	TMEM65	125395408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.390000	0.52523	2.772000	0.95346	0.650000	0.86243	GAT	TMEM65	-	NULL	ENSG00000164983		0.343	TMEM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM65	HGNC	protein_coding	OTTHUMT00000381464.1	69	0.00	0	C	NM_194291		125326227	125326227	-1	no_errors	ENST00000297632	ensembl	human	known	69_37n	missense	55	41.84	41	SNP	1.000	G
TMX3	54495	genome.wustl.edu	37	18	66344394	66344394	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr18:66344394G>A	ENST00000299608.2	-	16	1457	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	381					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						AGGCCAAAGAGAAAGCAGCCC	0.403																																						dbGAP											0													96.0	94.0	95.0					18																	66344394		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.1141C>T	18.37:g.66344394G>A	ENSP00000299608:p.Leu381Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.L381F	ENST00000299608.2	37	c.1141	CCDS32840.1	18	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937893	0.92526	.	.	ENSG00000166479	ENST00000299608;ENST00000544714	T	0.16597	2.33	5.5	5.5	0.81552	.	0.061384	0.64402	D	0.000003	T	0.46580	0.1400	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.41716	-0.9493	10	0.49607	T	0.09	.	18.3763	0.90437	0.0:0.0:1.0:0.0	.	381	Q96JJ7	TMX3_HUMAN	F	381	ENSP00000299608:L381F	ENSP00000299608:L381F	L	-	1	0	TMX3	64495374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.306000	0.96204	2.573000	0.86826	0.650000	0.86243	CTC	TMX3	-	NULL	ENSG00000166479		0.403	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TMX3	HGNC	protein_coding	OTTHUMT00000420155.1	60	0.00	0	G	NM_019022		66344394	66344394	-1	no_errors	ENST00000299608	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	1.000	A
TNRC6C	57690	genome.wustl.edu	37	17	76045561	76045561	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:76045561C>A	ENST00000588061.1	+	5	1145	c.418C>A	c.(418-420)Cag>Aag	p.Q140K	TNRC6C_ENST00000335749.4_Missense_Mutation_p.Q140K|TNRC6C_ENST00000541771.1_Missense_Mutation_p.Q140K|TNRC6C_ENST00000588847.1_Missense_Mutation_p.Q140K|TNRC6C_ENST00000544502.1_Missense_Mutation_p.Q140K|TNRC6C_ENST00000301624.4_Missense_Mutation_p.Q140K			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	140	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|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 gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TATGGGCAACCAGAACGGGAA	0.517																																						dbGAP											0													57.0	58.0	58.0					17																	76045561		2005	4195	6200	-	-	-	SO:0001583	missense	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.418C>A	17.37:g.76045561C>A	ENSP00000468647:p.Gln140Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q140K	ENST00000588061.1	37	c.418	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605220	0.28623	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.36	5.36	0.76844	.	0.690206	0.15721	N	0.247892	T	0.18299	0.0439	L	0.58101	1.795	0.40723	D	0.982678	B;B;B	0.30361	0.066;0.277;0.039	B;B;B	0.24394	0.022;0.053;0.01	T	0.12785	-1.0534	10	0.06494	T	0.89	-0.8391	19.277	0.94036	0.0:1.0:0.0:0.0	.	140;140;140	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	K	140	ENSP00000336783:Q140K;ENSP00000301624:Q140K;ENSP00000440310:Q140K;ENSP00000442421:Q140K	ENSP00000301624:Q140K	Q	+	1	0	TNRC6C	73557156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.394000	0.44450	2.782000	0.95742	0.655000	0.94253	CAG	TNRC6C	-	NULL	ENSG00000078687		0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	17	0.00	0	C	NM_018996		76045561	76045561	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	A
TNXB	7148	genome.wustl.edu	37	6	32049445	32049445	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:32049445C>G	ENST00000375244.3	-	10	3943	c.3742G>C	c.(3742-3744)Gag>Cag	p.E1248Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E1248Q			P22105	TENX_HUMAN	tenascin XB	1335	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.		H -> R (in dbSNP:rs185819).		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						TCTTTCCTCTCTGGAGCTGTA	0.637																																						dbGAP											0													9.0	9.0	9.0					6																	32049445		1853	4097	5950	-	-	-	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.3742G>C	6.37:g.32049445C>G	ENSP00000364393:p.Glu1248Gln	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.E1248Q	ENST00000375244.3	37	c.3742		6	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466470	0.43839	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56103	0.64;0.48	5.17	1.02	0.19986	.	0.163881	0.28583	N	0.014832	T	0.12305	0.0299	N	0.25426	0.745	0.09310	N	1	B	0.21520	0.057	B	0.25405	0.06	T	0.20874	-1.0262	10	0.15952	T	0.53	.	2.488	0.04603	0.1369:0.4269:0.2679:0.1683	.	1248	P22105-3	.	Q	1248	ENSP00000364393:E1248Q;ENSP00000364396:E1248Q	ENSP00000364393:E1248Q	E	-	1	0	TNXB	32157423	0.000000	0.05858	0.912000	0.35992	0.921000	0.55340	0.123000	0.15708	0.527000	0.28560	0.407000	0.27541	GAG	TNXB	-	superfamily_Fibronectin_type3	ENSG00000168477		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	17	0.00	0	C	NM_019105		32049445	32049445	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	13	40.91	9	SNP	0.011	G
TOMM7	54543	genome.wustl.edu	37	7	22852775	22852775	+	3'UTR	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:22852775G>T	ENST00000358435.4	-	0	253				TOMM7_ENST00000372879.4_Missense_Mutation_p.L107I|TOMM7_ENST00000463284.1_5'UTR|TOMM7_ENST00000405021.3_3'UTR	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						AAATCCAGAAGACCAAATAAT	0.408																																						dbGAP											0													93.0	87.0	89.0					7																	22852775		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.*14C>A	7.37:g.22852775G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95939	Missense_Mutation	SNP	pfam_Tom7	p.L107I	ENST00000358435.4	37	c.319	CCDS5376.1	7	.	.	.	.	.	.	.	.	.	.	G	15.28	2.788211	0.49997	.	.	ENSG00000196683	ENST00000372879	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	T	0.58963	0.2159	.	.	.	0.23050	N	0.998375	.	.	.	.	.	.	T	0.56269	-0.8007	5	0.87932	D	0	.	15.6296	0.76893	0.0:0.0:1.0:0.0	.	.	.	.	I	107	.	ENSP00000361970:L107I	L	-	1	0	TOMM7	22819300	0.985000	0.35326	0.764000	0.31436	0.311000	0.27955	3.279000	0.51670	2.758000	0.94735	0.591000	0.81541	CTT	TOMM7	-	NULL	ENSG00000196683		0.408	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM7	HGNC	protein_coding	OTTHUMT00000211623.1	29	0.00	0	G	NM_019059		22852775	22852775	-1	no_errors	ENST00000372879	ensembl	human	putative	69_37n	missense	44	22.41	13	SNP	0.927	T
TOP2B	7155	genome.wustl.edu	37	3	25656736	25656736	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:25656736A>C	ENST00000264331.4	-	27	3550	c.3551T>G	c.(3550-3552)cTt>cGt	p.L1184R	TOP2B_ENST00000435706.2_Missense_Mutation_p.L1179R|TOP2B_ENST00000540199.1_Missense_Mutation_p.L36R|TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000542520.1_Missense_Mutation_p.L36R	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1184					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTCTTTCCAAAGATCTGAAGG	0.299																																						dbGAP											0													50.0	51.0	51.0					3																	25656736		1790	4060	5850	-	-	-	SO:0001583	missense	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.3551T>G	3.37:g.25656736A>C	ENSP00000264331:p.Leu1184Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13600|Q9UMG8|Q9UQP8	Missense_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.L1184R	ENST00000264331.4	37	c.3551		3	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446222	0.84101	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	D;T;T;D	0.81579	-1.51;-0.12;-0.13;-1.51	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93518	0.6859	10	0.87932	D	0	-1.4224	15.9588	0.79910	1.0:0.0:0.0:0.0	.	1179	Q02880-2	.	R	36;1179;1184;36	ENSP00000446023:L36R;ENSP00000396704:L1179R;ENSP00000264331:L1184R;ENSP00000437352:L36R	ENSP00000264331:L1184R	L	-	2	0	TOP2B	25631740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.829000	0.92055	2.216000	0.71823	0.533000	0.62120	CTT	TOP2B	-	pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C	ENSG00000077097		0.299	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		23	0.00	0	A			25656736	25656736	-1	no_errors	ENST00000264331	ensembl	human	known	69_37n	missense	28	34.88	15	SNP	1.000	C
TOR1B	27348	genome.wustl.edu	37	9	132566431	132566431	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:132566431C>T	ENST00000259339.2	+	2	339	c.279C>T	c.(277-279)ttC>ttT	p.F93F	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	93					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)				TGACTGGCTTCAGGAACAACA	0.488																																						dbGAP											0													95.0	89.0	91.0					9																	132566431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.279C>T	9.37:g.132566431C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Torsin	p.S75L	ENST00000259339.2	37	c.224	CCDS6929.1	9	.	.	.	.	.	.	.	.	.	.	C	11.56	1.676341	0.29783	.	.	ENSG00000136816	ENST00000427860	.	.	.	5.1	4.2	0.49525	.	.	.	.	.	T	0.63570	0.2522	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61686	-0.7012	4	.	.	.	-4.6706	12.4264	0.55548	0.0:0.9196:0.0:0.0803	.	.	.	.	L	75	.	.	S	+	2	0	TOR1B	131606252	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	2.888000	0.48594	1.165000	0.42670	0.561000	0.74099	TCA	TOR1B	-	pfam_Torsin	ENSG00000136816		0.488	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1B	HGNC	protein_coding	OTTHUMT00000054615.1	36	0.00	0	C	NM_014506		132566431	132566431	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427860	ensembl	human	known	69_37n	missense	40	36.51	23	SNP	1.000	T
TP63	8626	genome.wustl.edu	37	3	189604231	189604231	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:189604231G>A	ENST00000264731.3	+	11	1487	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	TP63_ENST00000392460.3_Silent_p.L466L|TP63_ENST00000392461.3_Silent_p.L372L|TP63_ENST00000449992.1_Silent_p.L287L|TP63_ENST00000392463.2_Silent_p.L372L|TP63_ENST00000456148.1_Silent_p.L368L|TP63_ENST00000354600.5_Silent_p.L372L|TP63_ENST00000440651.2_Silent_p.L462L|TP63_ENST00000382063.4_Silent_p.L381L|TP63_ENST00000320472.5_Silent_p.L466L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	466					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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 factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCCACCTCTGAACAAAATGA	0.493										HNSCC(45;0.13)																												dbGAP											0													141.0	118.0	126.0					3																	189604231		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1398G>A	3.37:g.189604231G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.L466	ENST00000264731.3	37	c.1398	CCDS3293.1	3																																																																																			TP63	-	NULL	ENSG00000073282		0.493	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	52	0.00	0	G	NM_003722		189604231	189604231	+1	no_errors	ENST00000264731	ensembl	human	known	69_37n	silent	53	33.33	27	SNP	1.000	A
TPM1	7168	genome.wustl.edu	37	15	63354780	63354780	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:63354780G>C	ENST00000403994.3	+	8	788	c.708G>C	c.(706-708)gaG>gaC	p.E236D	TPM1_ENST00000357980.4_Missense_Mutation_p.E278D|TPM1_ENST00000404484.4_Missense_Mutation_p.E200D|TPM1_ENST00000288398.6_Missense_Mutation_p.E236D|TPM1_ENST00000560959.1_Missense_Mutation_p.E200D|TPM1_ENST00000317516.7_Missense_Mutation_p.E200D|TPM1_ENST00000559556.1_Missense_Mutation_p.E236D|TPM1_ENST00000267996.7_Missense_Mutation_p.E236D|TPM1_ENST00000334895.5_Missense_Mutation_p.E200D|TPM1_ENST00000358278.3_Missense_Mutation_p.E236D|TPM1_ENST00000559397.1_Missense_Mutation_p.E236D|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559281.1_Missense_Mutation_p.E200D	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	236					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						TACAGGCTGAGACTCGGGCTG	0.363																																						dbGAP											0													110.0	111.0	111.0					15																	63354780		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.708G>C	15.37:g.63354780G>C	ENSP00000385107:p.Glu236Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E236D	ENST00000403994.3	37	c.708	CCDS45273.1	15	.	.	.	.	.	.	.	.	.	.	G	18.27	3.585944	0.66105	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.87	4.95	0.65309	.	0.000000	0.50627	D	0.000120	D	0.92596	0.7648	H	0.95539	3.685	0.58432	D	0.999999	B;B;P;B;B;B;B;B;P;B;B;P;P;B	0.46395	0.063;0.033;0.74;0.244;0.012;0.015;0.053;0.451;0.515;0.375;0.142;0.877;0.679;0.053	B;B;P;B;B;B;B;P;P;P;B;P;P;B	0.62298	0.262;0.416;0.9;0.265;0.085;0.098;0.306;0.823;0.575;0.489;0.333;0.74;0.831;0.306	D	0.93497	0.6841	10	0.72032	D	0.01	-20.5026	10.7022	0.45934	0.1468:0.0:0.8532:0.0	.	200;200;236;202;200;200;236;278;236;236;236;236;236;236	B7Z722;B7Z596;P09493-6;F5H7S3;D9YZV7;Q1ZYL5;D9YZV4;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3;D9YZV2;P09493	.;.;.;.;.;.;.;.;.;.;.;.;.;TPM1_HUMAN	D	236;236;236;236;278;258;200;202	ENSP00000288398:E236D;ENSP00000267996:E236D;ENSP00000351022:E236D;ENSP00000385107:E236D;ENSP00000350667:E278D;ENSP00000334624:E200D	ENSP00000267996:E236D	E	+	3	2	TPM1	61141833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.170000	0.58229	1.458000	0.47871	0.655000	0.94253	GAG	TPM1	-	pfam_Tropomyosin,prints_Tropomyosin	ENSG00000140416		0.363	TPM1-002	KNOWN	basic|CCDS	protein_coding	TPM1	HGNC	protein_coding	OTTHUMT00000417083.2	44	0.00	0	G	NM_001018004		63354780	63354780	+1	no_errors	ENST00000267996	ensembl	human	known	69_37n	missense	49	23.08	15	SNP	1.000	C
TPSB2	64499	genome.wustl.edu	37	16	1278690	1278690	+	RNA	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:1278690T>A	ENST00000339687.6	-	0	811				TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000430512.2_RNA			P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CCAGTCCAAGTAGTAGGTGAC	0.627																																						dbGAP											0													53.0	56.0	55.0					16																	1278690		2187	4297	6484	-	-	-			0			AF099143		16p13.3	2009-11-20	2009-11-18		ENSG00000197253	ENSG00000197253			14120	protein-coding gene	gene with protein product	"""tryptase beta II"", ""tryptase beta III"""	191081	"""tryptase beta 2"""			19748655	Standard	NM_024164		Approved		uc002cky.3	P20231	OTTHUMG00000155926		16.37:g.1278690T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D2E6S0|D2E6S2|O95827|Q15664|Q9UQI6|Q9UQI7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Y262F	ENST00000339687.6	37	c.785		16	.	.	.	.	.	.	.	.	.	.	T	13.66	2.303056	0.40795	.	.	ENSG00000197253	ENST00000430512	D	0.83591	-1.74	3.8	3.8	0.43715	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.200655	0.24762	N	0.035807	D	0.85948	0.5816	.	.	.	0.09310	N	1	D	0.55605	0.972	P	0.56960	0.81	T	0.77528	-0.2554	9	0.46703	T	0.11	.	10.7989	0.46476	0.0:0.0:0.0:1.0	.	263	P20231	TRYB2_HUMAN	F	262	ENSP00000412409:Y262F	ENSP00000412409:Y262F	Y	-	2	0	TPSB2	1218691	0.002000	0.14202	0.710000	0.30468	0.675000	0.39556	0.409000	0.21082	1.506000	0.48736	0.459000	0.35465	TAC	TPSB2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000197253		0.627	TPSB2-002	KNOWN	basic	processed_transcript	TPSB2	HGNC	polymorphic_pseudogene	OTTHUMT00000342364.1	56	0.00	0	T	NM_024164		1278690	1278690	-1	no_errors	ENST00000430512	ensembl	human	known	69_37n	missense	43	12.00	6	SNP	0.242	A
TRA2B	6434	genome.wustl.edu	37	3	185643399	185643399	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:185643399T>G	ENST00000453386.2	-	3	461	c.186A>C	c.(184-186)agA>agC	p.R62S	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	62	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TTCGGGAGCTTCTTCTGGATC	0.458																																						dbGAP											0													94.0	92.0	93.0					3																	185643399		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.186A>C	3.37:g.185643399T>G	ENSP00000416959:p.Arg62Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R62S	ENST00000453386.2	37	c.186	CCDS33905.1	3	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820178	0.50633	.	.	ENSG00000136527	ENST00000453386	T	0.11930	2.73	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	L	0.28740	0.885	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.15052	0.012;0.012	T	0.14980	-1.0453	10	0.33141	T	0.24	-7.0252	10.675	0.45781	0.0:0.0738:0.0:0.9262	.	62;62	B2RDQ3;P62995	.;TRA2B_HUMAN	S	62	ENSP00000416959:R62S	ENSP00000416959:R62S	R	-	3	2	TRA2B	187126093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.791000	0.26915	2.371000	0.80710	0.533000	0.62120	AGA	TRA2B	-	NULL	ENSG00000136527		0.458	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	HGNC	protein_coding	OTTHUMT00000344984.1	43	0.00	0	T	NM_004593		185643399	185643399	-1	no_errors	ENST00000453386	ensembl	human	known	69_37n	missense	70	28.57	28	SNP	1.000	G
TRAF3	7187	genome.wustl.edu	37	14	103352554	103352554	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:103352554T>C	ENST00000560371.1	+	6	816	c.599T>C	c.(598-600)gTg>gCg	p.V200A	TRAF3_ENST00000539721.1_Intron|TRAF3_ENST00000347662.4_Missense_Mutation_p.V200A|TRAF3_ENST00000351691.5_Missense_Mutation_p.V200A|TRAF3_ENST00000392745.2_Missense_Mutation_p.V200A	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	200					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|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)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TGTCCCTGCGTGGTGGTGTCC	0.587																																						dbGAP											0													77.0	60.0	66.0					14																	103352554		2203	4300	6503	-	-	-	SO:0001583	missense	0			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.599T>C	14.37:g.103352554T>C	ENSP00000454207:p.Val200Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V200A	ENST00000560371.1	37	c.599	CCDS9975.1	14	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403055	0.62288	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691	T;T;T	0.36699	1.24;1.24;1.24	5.4	5.4	0.78164	Zinc finger, TRAF-type (1);TRAF-like (1);	0.054781	0.64402	D	0.000001	T	0.26521	0.0648	N	0.25144	0.715	0.38019	D	0.934795	B;B	0.25007	0.017;0.116	B;B	0.27380	0.017;0.079	T	0.13818	-1.0495	10	0.15066	T	0.55	-36.9231	15.719	0.77694	0.0:0.0:0.0:1.0	.	200;200	A6NHG8;Q13114	.;TRAF3_HUMAN	A	200	ENSP00000376500:V200A;ENSP00000328003:V200A;ENSP00000332468:V200A	ENSP00000328003:V200A	V	+	2	0	TRAF3	102422307	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.480000	0.66820	2.175000	0.68902	0.383000	0.25322	GTG	TRAF3	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF	ENSG00000131323		0.587	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3	HGNC	protein_coding	OTTHUMT00000415735.1	28	0.00	0	T	NM_145725		103352554	103352554	+1	no_errors	ENST00000392745	ensembl	human	known	69_37n	missense	15	40.00	10	SNP	1.000	C
TRAF4	9618	genome.wustl.edu	37	17	27076323	27076323	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:27076323C>T	ENST00000262395.5	+	7	1270	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.P381S|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	381	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCTTGAGTGGCCCTTTGCCCG	0.582																																						dbGAP											0													80.0	69.0	73.0					17																	27076323		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1141C>T	17.37:g.27076323C>T	ENSP00000262395:p.Pro381Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.P381S	ENST00000262395.5	37	c.1141	CCDS11243.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136055	0.77662	.	.	ENSG00000076604	ENST00000262395;ENST00000444415;ENST00000394924;ENST00000394925	T;T	0.35421	1.31;1.31	5.73	5.73	0.89815	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.78916	2.43	0.80722	D	1	P	0.52316	0.952	P	0.57468	0.821	T	0.61840	-0.6980	10	0.66056	D	0.02	.	18.8829	0.92364	0.0:1.0:0.0:0.0	.	381	Q9BUZ4	TRAF4_HUMAN	S	381;381;78;55	ENSP00000262395:P381S;ENSP00000438154:P381S	ENSP00000262395:P381S	P	+	1	0	TRAF4	24100450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.254000	0.78329	2.699000	0.92147	0.655000	0.94253	CCC	TRAF4	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000076604		0.582	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	22	0.00	0	C	NM_145751		27076323	27076323	+1	no_errors	ENST00000262395	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	1.000	T
TRAF4	9618	genome.wustl.edu	37	17	27076377	27076377	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:27076377G>T	ENST00000262395.5	+	7	1324	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	TRAF4_ENST00000262396.6_Intron|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000444415.3_Intron|AC010761.10_ENST00000579468.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	399	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCCTGGGCTGGCTAAACCACA	0.587																																						dbGAP											0													70.0	61.0	64.0					17																	27076377		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.1195G>T	17.37:g.27076377G>T	ENSP00000262395:p.Ala399Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.A399S	ENST00000262395.5	37	c.1195	CCDS11243.1	17	.	.	.	.	.	.	.	.	.	.	G	6.593	0.477711	0.12521	.	.	ENSG00000076604	ENST00000262395;ENST00000394924;ENST00000394925	T	0.19394	2.15	6.11	3.97	0.46021	TRAF-type (1);TRAF-like (1);MATH (3);	0.054127	0.85682	D	0.000000	T	0.07143	0.0181	N	0.04636	-0.2	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.27673	-1.0067	10	0.02654	T	1	.	7.8934	0.29691	0.0799:0.0:0.654:0.2661	.	399	Q9BUZ4	TRAF4_HUMAN	S	399;96;73	ENSP00000262395:A399S	ENSP00000262395:A399S	A	+	1	0	TRAF4	24100504	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.184000	0.50926	2.906000	0.99361	0.655000	0.94253	GCT	TRAF4	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000076604		0.587	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	23	0.00	0	G	NM_145751		27076377	27076377	+1	no_errors	ENST00000262395	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	1.000	T
TRAPPC10	7109	genome.wustl.edu	37	21	45514103	45514103	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:45514103G>A	ENST00000291574.4	+	20	3332	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1053					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATTTAAAGTGGAAAATTTTTT	0.388																																						dbGAP											0													72.0	78.0	76.0					21																	45514103		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3157G>A	21.37:g.45514103G>A	ENSP00000291574:p.Glu1053Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	NULL	p.E1053K	ENST00000291574.4	37	c.3157	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396379	0.83011	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.24350	1.86	5.11	5.11	0.69529	.	0.103719	0.64402	D	0.000005	T	0.33089	0.0851	L	0.46157	1.445	0.80722	D	1	P;B;B	0.49559	0.925;0.437;0.437	P;B;B	0.48270	0.572;0.342;0.342	T	0.01819	-1.1267	10	0.31617	T	0.26	.	18.911	0.92485	0.0:0.0:1.0:0.0	.	158;312;1053	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	K	1053;184	ENSP00000291574:E1053K	ENSP00000291574:E1053K	E	+	1	0	TRAPPC10	44338531	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.809000	0.86057	2.529000	0.85273	0.655000	0.94253	GAA	TRAPPC10	-	NULL	ENSG00000160218		0.388	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	44	0.00	0	G	NM_003274		45514103	45514103	+1	no_errors	ENST00000291574	ensembl	human	known	69_37n	missense	56	16.18	11	SNP	1.000	A
TRGV1	6973	genome.wustl.edu	37	7	38407414	38407414	+	RNA	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:38407414C>T	ENST00000390348.2	-	0	237									T cell receptor gamma variable 1 (non-functional)																		CCAGGAAGATCACAGGTGATT	0.507											OREG0017997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-			0			M12949		7p14	2012-02-07	2008-09-12		ENSG00000211701	ENSG00000211701		"""T cell receptors / TRG locus"""	12284	other	T cell receptor gene			"""T cell receptor gamma variable 1"", ""T cell receptor gamma variable 1 pseudogene"""	TCRGV1		2938743, 2969332	Standard	NG_001336		Approved	V1S1P			OTTHUMG00000155097		7.37:g.38407414C>T		Somatic	878	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D42N	ENST00000390348.2	37	c.124		7																																																																																			TRGV1	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211701		0.507	TRGV1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRGV1	HGNC	TR_V_gene	OTTHUMT00000338398.4	35	0.00	0	C	NG_001336		38407414	38407414	-1	no_stop_codon	ENST00000390348	ensembl	human	known	69_37n	missense	43	36.76	25	SNP	0.301	T
TRIM23	373	genome.wustl.edu	37	5	64892900	64892900	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:64892900G>A	ENST00000231524.9	-	8	1658	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	TRIM23_ENST00000274327.7_Silent_p.F429F|TRIM23_ENST00000381018.3_Silent_p.F429F	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	429	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TGGGCTGCATGAATTCATCCT	0.373																																						dbGAP											0													123.0	119.0	121.0					5																	64892900		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1287C>T	5.37:g.64892900G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZY4|Q9BZY5	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,tigrfam_Small_GTP-bd_dom	p.F429	ENST00000231524.9	37	c.1287	CCDS3987.1	5																																																																																			TRIM23	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,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	ENSG00000113595		0.373	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM23	HGNC	protein_coding	OTTHUMT00000215058.2	38	0.00	0	G	NM_001656		64892900	64892900	-1	no_errors	ENST00000231524	ensembl	human	known	69_37n	silent	45	16.67	9	SNP	0.999	A
TRIM36	55521	genome.wustl.edu	37	5	114462415	114462416	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:114462415_114462416delTA	ENST00000282369.3	-	10	2092_2093	c.1971_1972delTA	c.(1969-1974)aatagafs	p.NR657fs	TRIM36_ENST00000513154.1_Frame_Shift_Del_p.NR645fs|TRIM36_ENST00000514154.1_Frame_Shift_Del_p.NR502fs	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	657	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGGAGAACTCTATTTTCAGGTT	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1971_1972delTA	5.37:g.114462415_114462416delTA	ENSP00000282369:p.Asn657fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Frame_Shift_Del	DEL	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.N657fs	ENST00000282369.3	37	c.1972_1971	CCDS4115.1	5																																																																																			TRIM36	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000152503		0.356	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	57	0.00	0	TA	NM_018700		114462415	114462416	-1	no_errors	ENST00000282369	ensembl	human	known	69_37n	frame_shift_del	67	14.10	11	DEL	0.089:0.027	-
TRIM55	84675	genome.wustl.edu	37	8	67062075	67062075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:67062075C>T	ENST00000315962.4	+	5	1172	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	TRIM55_ENST00000276573.7_Nonsense_Mutation_p.Q267*|TRIM55_ENST00000353317.5_Nonsense_Mutation_p.Q267*|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	267					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)			GTCAGGAATTCAGTTTATGGA	0.423																																						dbGAP											0													118.0	117.0	117.0					8																	67062075		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.799C>T	8.37:g.67062075C>T	ENSP00000323913:p.Gln267*	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.Q267*	ENST00000315962.4	37	c.799	CCDS6184.1	8	.	.	.	.	.	.	.	.	.	.	C	38	6.918371	0.97932	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.7518	0.96271	0.0:1.0:0.0:0.0	.	.	.	.	X	267	.	ENSP00000276573:Q267X	Q	+	1	0	TRIM55	67224629	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.945000	0.70226	2.662000	0.90505	0.650000	0.86243	CAG	TRIM55	-	NULL	ENSG00000147573		0.423	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	64	0.00	0	C	NM_184085		67062075	67062075	+1	no_errors	ENST00000315962	ensembl	human	known	69_37n	nonsense	87	19.44	21	SNP	1.000	T
TRIM69	140691	genome.wustl.edu	37	15	45047337	45047337	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:45047337G>A	ENST00000559390.1	+	3	1174	c.246G>A	c.(244-246)aaG>aaA	p.K82K	TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000329464.4_Silent_p.K82K|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_De_novo_Start_InFrame|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000558329.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	82	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTGAGTGTAAGATGCTATGTC	0.458																																					Pancreas(84;519 1450 1802 20427 34706)	dbGAP											0													186.0	159.0	168.0					15																	45047337		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.246G>A	15.37:g.45047337G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.K82	ENST00000559390.1	37	c.246	CCDS32220.1	15																																																																																			TRIM69	-	pfscan_Znf_RING	ENSG00000185880		0.458	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	HGNC	protein_coding	OTTHUMT00000416171.1	40	0.00	0	G			45047337	45047337	+1	no_errors	ENST00000329464	ensembl	human	known	69_37n	silent	37	43.08	28	SNP	0.070	A
TRIM73	375593	genome.wustl.edu	37	7	75034314	75034314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:75034314G>T	ENST00000437796.1	+	3	707	c.688G>T	c.(688-690)Gaa>Taa	p.E230*	TRIM73_ENST00000450434.1_Nonsense_Mutation_p.E99*|TRIM73_ENST00000323819.3_Nonsense_Mutation_p.E230*|TRIM73_ENST00000430211.1_Nonsense_Mutation_p.E230*|TRIM73_ENST00000447409.2_Nonsense_Mutation_p.E230*			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	230						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGTGTGCTGGAACAGTTCGG	0.652																																						dbGAP											0													119.0	105.0	110.0					7																	75034314		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.688G>T	7.37:g.75034314G>T	ENSP00000417040:p.Glu230*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N0S3	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.E230*	ENST00000437796.1	37	c.688	CCDS34665.1	7	.	.	.	.	.	.	.	.	.	.	G	14.04	2.418067	0.42918	.	.	ENSG00000178809	ENST00000450434;ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	.	.	.	3.36	2.43	0.29744	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.2313	0.48914	0.0:0.1882:0.8118:0.0	.	.	.	.	X	99;230;230;230;230	.	ENSP00000318615:E230X	E	+	1	0	TRIM73	74872250	1.000000	0.71417	0.999000	0.59377	0.091000	0.18340	3.998000	0.57024	0.692000	0.31613	0.400000	0.26472	GAA	TRIM73	-	NULL	ENSG00000178809		0.652	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	HGNC	protein_coding	OTTHUMT00000342950.1	89	0.00	0	G			75034314	75034314	+1	no_errors	ENST00000323819	ensembl	human	known	69_37n	nonsense	103	39.05	66	SNP	1.000	T
TRPC1	7220	genome.wustl.edu	37	3	142499689	142499689	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:142499689G>A	ENST00000476941.1	+	6	1264	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	TRPC1_ENST00000273482.6_Missense_Mutation_p.E226K	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	260					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGATTATGAGGAACTAGCCCG	0.363																																						dbGAP											0													78.0	78.0	78.0					3																	142499689		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.778G>A	3.37:g.142499689G>A	ENSP00000419313:p.Glu260Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.E260K	ENST00000476941.1	37	c.778	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131666	0.77662	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.62498	0.02;0.02	5.79	5.79	0.91817	.	0.044615	0.85682	D	0.000000	T	0.50103	0.1596	L	0.29908	0.895	0.80722	D	1	P;B	0.34522	0.455;0.011	B;B	0.24701	0.055;0.025	T	0.45175	-0.9279	10	0.26408	T	0.33	-17.7857	20.04	0.97581	0.0:0.0:1.0:0.0	.	260;226	P48995;P48995-2	TRPC1_HUMAN;.	K	260;226	ENSP00000419313:E260K;ENSP00000273482:E226K	ENSP00000273482:E226K	E	+	1	0	TRPC1	143982379	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	GAA	TRPC1	-	tigrfam_TRP_channel	ENSG00000144935		0.363	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	41	0.00	0	G	NM_003304		142499689	142499689	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	missense	30	62.96	51	SNP	1.000	A
TRPC5	7224	genome.wustl.edu	37	X	111155634	111155634	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:111155634G>A	ENST00000262839.2	-	3	1703	c.785C>T	c.(784-786)tCc>tTc	p.S262F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	262					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|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)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGTTCCCTGGAGCTCCGAGC	0.527																																						dbGAP											0													190.0	162.0	172.0					X																	111155634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.785C>T	X.37:g.111155634G>A	ENSP00000262839:p.Ser262Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.S262F	ENST00000262839.2	37	c.785	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831456	0.91036	.	.	ENSG00000072315	ENST00000262839	T	0.64618	-0.11	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.982;0.993	D	0.86629	0.1884	10	0.87932	D	0	0.0859	19.4805	0.95008	0.0:0.0:1.0:0.0	.	263;262	Q59G51;Q9UL62	.;TRPC5_HUMAN	F	262	ENSP00000262839:S262F	ENSP00000262839:S262F	S	-	2	0	TRPC5	111042290	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.555000	0.86185	0.513000	0.50165	TCC	TRPC5	-	tigrfam_TRP_channel	ENSG00000072315		0.527	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	50	0.00	0	G	NM_012471		111155634	111155634	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	missense	55	23.61	17	SNP	1.000	A
TRPC7	57113	genome.wustl.edu	37	5	135583271	135583271	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:135583271C>G	ENST00000513104.1	-	7	2014	c.1732G>C	c.(1732-1734)Gat>Cat	p.D578H	TRPC7_ENST00000355180.3_Missense_Mutation_p.D517H|TRPC7_ENST00000426057.2_Missense_Mutation_p.D462H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	578					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGAAGATATCTTTCACAGTT	0.483																																						dbGAP											0													154.0	154.0	154.0					5																	135583271		1978	4184	6162	-	-	-	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1732G>C	5.37:g.135583271C>G	ENSP00000426070:p.Asp578His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	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,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.D578H	ENST00000513104.1	37	c.1732	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.748228|4.748228	0.89663|0.89663	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.98633|.	-5.04;-5.04;-5.04|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Ion transport (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88089|0.88089	0.6343|0.6343	H|H	0.95224|0.95224	3.64|3.64	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.998;1.0;1.0|.	D|D	0.90560|0.90560	0.4515|0.4515	10|5	0.87932|.	D|.	0|.	-21.9851|-21.9851	19.9142|19.9142	0.97043|0.97043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	462;517;523;578|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	H|T	517;462;578;578|461;516;522	ENSP00000347312:D517H;ENSP00000441628:D462H;ENSP00000426070:D578H|.	ENSP00000265193:D578H|.	D|R	-|-	1|2	0|0	TRPC7|TRPC7	135611170|135611170	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|AGA	TRPC7	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel	ENSG00000069018		0.483	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	34	0.00	0	C	NM_020389		135583271	135583271	-1	no_errors	ENST00000513104	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	1.000	G
TRPM5	29850	genome.wustl.edu	37	11	2432929	2432929	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:2432929C>T	ENST00000155858.6	-	17	2551	c.2543G>A	c.(2542-2544)cGg>cAg	p.R848Q	TRPM5_ENST00000533060.1_Missense_Mutation_p.R848Q|TRPM5_ENST00000452833.1_Missense_Mutation_p.R850Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.R848Q	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGGATCAGCCGCAGCGTGAA	0.652																																					NSCLC(1;49 61 17205 18850 43201)	dbGAP											0													72.0	72.0	72.0					11																	2432929		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2543G>A	11.37:g.2432929C>T	ENSP00000155858:p.Arg848Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.R850Q	ENST00000155858.6	37	c.2549	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863598	0.91511	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	4.28	4.28	0.50868	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.86192	0.5874	M	0.88906	2.99	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89501	0.3764	10	0.87932	D	0	-33.0716	16.0594	0.80830	0.0:1.0:0.0:0.0	.	848;850;848	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	Q	842;848;850;848;848;848	ENSP00000434383:R842Q;ENSP00000155858:R848Q;ENSP00000387965:R850Q;ENSP00000434121:R848Q;ENSP00000436809:R848Q	ENSP00000155858:R848Q	R	-	2	0	TRPM5	2389505	0.995000	0.38212	0.964000	0.40570	0.755000	0.42902	7.407000	0.80029	2.120000	0.65058	0.491000	0.48974	CGG	TRPM5	-	NULL	ENSG00000070985		0.652	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	23	0.00	0	C	NM_014555		2432929	2432929	-1	no_errors	ENST00000452833	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.983	T
TRPM7	54822	genome.wustl.edu	37	15	50905027	50905027	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:50905027C>T	ENST00000313478.7	-	16	2052		c.e16-1		TRPM7_ENST00000560955.1_Splice_Site	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7						actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTGTATCAATCTTCCAGGGAA	0.308																																						dbGAP											0													107.0	105.0	105.0					15																	50905027		1799	4061	5860	-	-	-	SO:0001630	splice_region_variant	0			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1771-1G>A	15.37:g.50905027C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Splice_Site	SNP	-	e16-1	ENST00000313478.7	37	c.1771-1	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140449	0.21205	.	.	ENSG00000092439	ENST00000313478	.	.	.	5.44	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8045	0.69942	0.0:0.9296:0.0:0.0704	.	.	.	.	.	-1	.	.	.	-	.	.	TRPM7	48692319	1.000000	0.71417	0.969000	0.41365	0.064000	0.16182	1.699000	0.37804	1.413000	0.46997	0.585000	0.79938	.	TRPM7	-	-	ENSG00000092439		0.308	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	61	0.00	0	C	NM_017672	Intron	50905027	50905027	-1	no_errors	ENST00000313478	ensembl	human	known	69_37n	splice_site	58	35.56	32	SNP	0.999	T
TRPV4	59341	genome.wustl.edu	37	12	110230226	110230226	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:110230226G>A	ENST00000418703.2	-	11	1927	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	TRPV4_ENST00000536838.1_Silent_p.F577F|TRPV4_ENST00000541794.1_Silent_p.F564F|TRPV4_ENST00000544971.1_Silent_p.F504F|TRPV4_ENST00000392719.2_Silent_p.F564F|TRPV4_ENST00000261740.2_Silent_p.F611F|TRPV4_ENST00000537083.1_Silent_p.F551F|TRPV4_ENST00000346520.2_Silent_p.F551F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	611					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AAAGGTCCTTGAAGAGAATCT	0.552																																						dbGAP											0													68.0	68.0	68.0					12																	110230226		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1833C>T	12.37:g.110230226G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.F611	ENST00000418703.2	37	c.1833	CCDS9134.1	12																																																																																			TRPV4	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000111199		0.552	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	24	0.00	0	G	NM_021625		110230226	110230226	-1	no_errors	ENST00000261740	ensembl	human	known	69_37n	silent	22	24.14	7	SNP	1.000	A
TRPV5	56302	genome.wustl.edu	37	7	142625939	142625939	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:142625939G>A	ENST00000265310.1	-	6	957	c.609C>T	c.(607-609)ctC>ctT	p.L203L	TRPV5_ENST00000442623.1_Silent_p.L203L	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	203					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCTGGAGGATGAGGATGTGTA	0.567																																						dbGAP											0													228.0	217.0	221.0					7																	142625939		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.609C>T	7.37:g.142625939G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV5_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.L203	ENST00000265310.1	37	c.609	CCDS5875.1	7																																																																																			TRPV5	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,tigrfam_TRP_channel	ENSG00000127412		0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	HGNC	protein_coding	OTTHUMT00000347660.1	135	0.00	0	G	NM_019841		142625939	142625939	-1	no_errors	ENST00000265310	ensembl	human	known	69_37n	silent	153	31.39	70	SNP	0.997	A
TSPYL4	23270	genome.wustl.edu	37	6	116574421	116574421	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:116574421G>A	ENST00000420283.1	-	1	840	c.751C>T	c.(751-753)Cca>Tca	p.P251S	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	251					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)		CAGAAACCTGGGATATTCTGG	0.512																																						dbGAP											0													39.0	41.0	40.0					6																	116574421		1953	4161	6114	-	-	-	SO:0001583	missense	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.751C>T	6.37:g.116574421G>A	ENSP00000410943:p.Pro251Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	pfam_NAP_family	p.P251S	ENST00000420283.1	37	c.751	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084666	0.76642	.	.	ENSG00000187189	ENST00000420283	T	0.44482	0.92	3.98	3.98	0.46160	.	0.000000	0.33401	N	0.004947	T	0.62792	0.2457	M	0.88979	2.995	0.50171	D	0.99985	D	0.56287	0.975	D	0.69824	0.966	T	0.69771	-0.5055	10	0.72032	D	0.01	-5.8344	14.3987	0.67027	0.0:0.0:1.0:0.0	.	251	Q9UJ04	TSYL4_HUMAN	S	251	ENSP00000410943:P251S	ENSP00000410943:P251S	P	-	1	0	TSPYL4	116681114	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.652000	0.67959	2.514000	0.84764	0.462000	0.41574	CCA	TSPYL4	-	pfam_NAP_family	ENSG00000187189		0.512	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	41	0.00	0	G			116574421	116574421	-1	no_errors	ENST00000420283	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	A
TSR1	55720	genome.wustl.edu	37	17	2235463	2235463	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:2235463C>T	ENST00000301364.5	-	8	2575	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	SNORD91A_ENST00000390861.1_RNA|SNORD91B_ENST00000391250.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	499					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						GTTGACTAACCGAATTCGAGC	0.398																																						dbGAP											0													99.0	99.0	99.0					17																	2235463		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.1496+1G>A	17.37:g.2235463C>T		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.R499Q	ENST00000301364.5	37	c.1496	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.533709	0.96460	.	.	ENSG00000167721	ENST00000301364	T	0.19669	2.13	5.05	5.05	0.67936	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75961	-0.3133	9	.	.	.	-5.4581	17.3751	0.87390	0.0:1.0:0.0:0.0	.	499	Q2NL82	TSR1_HUMAN	Q	499	ENSP00000301364:R499Q	.	R	-	2	0	TSR1	2182213	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.900000	0.75687	2.370000	0.80446	0.555000	0.69702	CGA	TSR1	-	pfam_BMS1_TSR1_C	ENSG00000167721		0.398	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	52	0.00	0	C	NM_018128	Missense_Mutation	2235463	2235463	-1	no_errors	ENST00000301364	ensembl	human	known	69_37n	missense	18	66.67	36	SNP	1.000	T
TTBK1	84630	genome.wustl.edu	37	6	43230780	43230780	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:43230780G>A	ENST00000259750.4	+	13	1761	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	TTBK1_ENST00000304139.5_Missense_Mutation_p.E509K	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	560					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCCAGGGGCTGAGCCCAGCAC	0.672																																						dbGAP											0													58.0	43.0	48.0					6																	43230780		2199	4298	6497	-	-	-	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1678G>A	6.37:g.43230780G>A	ENSP00000259750:p.Glu560Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.E560K	ENST00000259750.4	37	c.1678	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525512	0.44969	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.23147	1.92	5.48	5.48	0.80851	.	0.132726	0.51477	D	0.000085	T	0.09247	0.0228	N	0.04090	-0.28	0.43574	D	0.995903	P;D	0.56521	0.518;0.976	B;P	0.49085	0.103;0.6	T	0.09751	-1.0660	10	0.37606	T	0.19	.	11.5865	0.50920	0.083:0.0:0.917:0.0	.	83;560	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	K	509;560;509	ENSP00000259750:E560K	ENSP00000259750:E560K	E	+	1	0	TTBK1	43338758	1.000000	0.71417	0.984000	0.44739	0.825000	0.46686	6.509000	0.73725	2.580000	0.87095	0.555000	0.69702	GAG	TTBK1	-	NULL	ENSG00000146216		0.672	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	19	0.00	0	G			43230780	43230780	+1	no_errors	ENST00000259750	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.996	A
TTC3	7267	genome.wustl.edu	37	21	38538313	38538313	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:38538313C>G	ENST00000399017.2	+	33	6544	c.3797C>G	c.(3796-3798)tCt>tGt	p.S1266C	TTC3_ENST00000354749.2_Missense_Mutation_p.S1266C|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.S1266C	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1266					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGACAAGTTTCTGAGGATGGG	0.463																																					Ovarian(38;194 1649 35661)	dbGAP											0													60.0	67.0	64.0					21																	38538313		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3797C>G	21.37:g.38538313C>G	ENSP00000381981:p.Ser1266Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.S1266C	ENST00000399017.2	37	c.3797	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764533	0.49574	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.10382	2.88;2.88;2.88	3.85	1.04	0.20106	.	0.787886	0.11161	N	0.593113	T	0.20659	0.0497	L	0.57536	1.79	0.09310	N	1	D;D	0.71674	0.998;0.97	P;P	0.60415	0.874;0.62	T	0.11012	-1.0605	9	.	.	.	-1.6123	6.0267	0.19658	0.0:0.6647:0.0:0.3353	.	324;1266	Q5GIT6;P53804	.;TTC3_HUMAN	C	1266	ENSP00000347889:S1266C;ENSP00000381981:S1266C;ENSP00000346791:S1266C	.	S	+	2	0	TTC3	37460183	0.000000	0.05858	0.005000	0.12908	0.341000	0.28922	0.537000	0.23144	0.230000	0.21059	-0.150000	0.13652	TCT	TTC3	-	NULL	ENSG00000182670		0.463	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	31	0.00	0	C			38538313	38538313	+1	no_errors	ENST00000354749	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	0.007	G
TTC39A	22996	genome.wustl.edu	37	1	51760099	51760099	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:51760099G>C	ENST00000447632.2	-	14	1386	c.1338C>G	c.(1336-1338)ttC>ttG	p.F446L	TTC39A_ENST00000451380.1_Missense_Mutation_p.F410L|TTC39A_ENST00000530004.1_Missense_Mutation_p.F54L|TTC39A_ENST00000371750.5_Missense_Mutation_p.F411L|TTC39A_ENST00000262675.7_Missense_Mutation_p.F383L|TTC39A_ENST00000413473.2_Missense_Mutation_p.F414L|TTC39A_ENST00000534098.1_5'UTR			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	446								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGTTGGAGGAGAAGTAGCGCC	0.582																																						dbGAP											2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											53.0	60.0	58.0					1																	51760099		1923	4134	6057	-	-	-	SO:0001583	missense	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1338C>G	1.37:g.51760099G>C	ENSP00000393952:p.Phe446Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.F446L	ENST00000447632.2	37	c.1338		1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.802052	0.31869	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.71	2.66	0.31614	.	0.258675	0.40222	N	0.001154	T	0.16981	0.0408	N	0.03209	-0.39	0.09310	N	0.999998	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.0;0.002;0.0	T	0.15665	-1.0429	10	0.26408	T	0.33	-13.0662	6.5871	0.22626	0.1976:0.2411:0.5613:0.0	.	414;410;383;446;411	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9;G3XAF8	.;.;.;TT39A_HUMAN;.	L	54;446;414;383;410;411;54	ENSP00000431228:F54L;ENSP00000393952:F446L;ENSP00000406144:F414L;ENSP00000262675:F383L;ENSP00000397207:F410L;ENSP00000360815:F411L;ENSP00000436659:F54L	ENSP00000262675:F383L	F	-	3	2	TTC39A	51532687	0.578000	0.26717	1.000000	0.80357	0.914000	0.54420	-0.015000	0.12634	0.740000	0.32651	0.462000	0.41574	TTC	TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.582	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	28	0.00	0	G			51760099	51760099	-1	no_errors	ENST00000447632	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	0.655	C
CFAP46	54777	genome.wustl.edu	37	10	134660491	134660491	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr10:134660491T>A	ENST00000368586.5	-	43	6312	c.6212A>T	c.(6211-6213)gAg>gTg	p.E2071V	TTC40_ENST00000263170.5_Missense_Mutation_p.E232V	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCCGACACACTCCACCATCTC	0.647																																						dbGAP											0													45.0	46.0	45.0					10																	134660491		2200	4299	6499	-	-	-	SO:0001583	missense	0																														ENST00000368586.5:c.6212A>T	10.37:g.134660491T>A	ENSP00000357575:p.Glu2071Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E232V	ENST00000368586.5	37	c.695	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	T	13.55	2.269201	0.40095	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.15718	2.41;2.4	3.85	3.85	0.44370	.	0.770882	0.10503	U	0.667053	T	0.36880	0.0983	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.06935	-1.0799	10	0.87932	D	0	.	9.6244	0.39741	0.0:0.0:0.0:1.0	.	232	Q8IYW2	CJ092_HUMAN	V	2071;232	ENSP00000357575:E2071V;ENSP00000263170:E232V	ENSP00000263170:E232V	E	-	2	0	C10orf93	134510481	0.920000	0.31207	0.918000	0.36340	0.142000	0.21351	1.464000	0.35288	1.712000	0.51347	0.402000	0.26972	GAG	TTC40	-	NULL	ENSG00000171811		0.647	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	21	0.00	0	T			134660491	134660491	-1	no_errors	ENST00000263170	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	0.963	A
TTN	7273	genome.wustl.edu	37	2	179407856	179407856	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:179407856C>G	ENST00000591111.1	-	297	92145	c.91921G>C	c.(91921-91923)Gag>Cag	p.E30641Q	TTN_ENST00000359218.5_Missense_Mutation_p.E23342Q|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23217Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23409Q|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32282Q|TTN_ENST00000342992.6_Missense_Mutation_p.E29714Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30641	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ACACCTTTCTCATTTTGTGCC	0.383																																						dbGAP											0													212.0	205.0	207.0					2																	179407856		1880	4123	6003	-	-	-	SO:0001583	missense	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.91921G>C	2.37:g.179407856C>G	ENSP00000465570:p.Glu30641Gln	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	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E29714Q	ENST00000591111.1	37	c.89140		2	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820334	0.32145	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.91	4.98	0.66077	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37461	0.1004	N	0.12853	0.265	0.29764	N	0.835319	B;B;B;B	0.10296	0.003;0.003;0.003;0.001	B;B;B;B	0.09377	0.004;0.004;0.004;0.002	T	0.34700	-0.9818	9	0.87932	D	0	.	13.9163	0.63899	0.0:0.683:0.317:0.0	.	23217;23342;23409;30641	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	29714;23217;23409;23342;23214	ENSP00000343764:E29714Q;ENSP00000434586:E23217Q;ENSP00000340554:E23409Q;ENSP00000352154:E23342Q	ENSP00000340554:E23409Q	E	-	1	0	TTN	179116102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.813000	0.48002	2.793000	0.96121	0.655000	0.94253	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	51	0.00	0	C	NM_133378		179407856	179407856	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	60	26.83	22	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179615969	179615969	+	Intron	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:179615969G>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.L3720F|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA			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)	p.L3720I(1)		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)			GTATCTAAAAGAGATAATTTC	0.353																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											66.0	65.0	66.0					2																	179615969		2201	4297	6498	-	-	-	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.10360+1881C>T	2.37:g.179615969G>A		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	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L3720F	ENST00000591111.1	37	c.11158		2	.	.	.	.	.	.	.	.	.	.	G	3.069	-0.191547	0.06299	.	.	ENSG00000155657	ENST00000360870	T	0.58797	0.31	5.55	0.466	0.16716	.	.	.	.	.	T	0.35098	0.0920	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.22382	-1.0218	9	0.10111	T	0.7	.	6.227	0.20714	0.3883:0.0:0.4928:0.1189	.	3720	Q8WZ42-6	.	F	3720	ENSP00000354117:L3720F	ENSP00000354117:L3720F	L	-	1	0	TTN	179324214	0.420000	0.25457	0.043000	0.18650	0.461000	0.32589	0.229000	0.17833	0.087000	0.17167	-0.208000	0.12717	CTT	TTN	-	NULL	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	31	0.00	0	G	NM_133378		179615969	179615969	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	41	33.87	21	SNP	0.001	A
TUBGCP3	10426	genome.wustl.edu	37	13	113223531	113223531	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:113223531C>T	ENST00000261965.3	-	2	305	c.119G>A	c.(118-120)gGc>gAc	p.G40D	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.G40D	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	40					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAAGTTGCTGCCAATCACCCG	0.428																																						dbGAP											0													107.0	99.0	102.0					13																	113223531		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.119G>A	13.37:g.113223531C>T	ENSP00000261965:p.Gly40Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.G40D	ENST00000261965.3	37	c.119	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984105	0.93044	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.23147	1.92;1.92	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.52905	1.665	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	P;D;D;D	0.85130	0.889;0.997;0.974;0.983	T	0.24764	-1.0151	10	0.30854	T	0.27	-29.4629	17.9593	0.89079	0.0:1.0:0.0:0.0	.	40;40;40;40	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	D	40	ENSP00000261965:G40D;ENSP00000364821:G40D	ENSP00000261965:G40D	G	-	2	0	TUBGCP3	112271532	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.781000	0.75068	2.337000	0.79520	0.543000	0.68304	GGC	TUBGCP3	-	NULL	ENSG00000126216		0.428	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2	58	0.00	0	C	NM_006322		113223531	113223531	-1	no_errors	ENST00000261965	ensembl	human	known	69_37n	missense	56	43.43	43	SNP	1.000	T
TUBGCP6	85378	genome.wustl.edu	37	22	50659211	50659211	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:50659211C>G	ENST00000248846.5	-	16	3681	c.3577G>C	c.(3577-3579)Gat>Cat	p.D1193H	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.D1193H			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1193	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)		ATGCTGGCATCAGACACGTGT	0.622																																						dbGAP											0													74.0	68.0	70.0					22																	50659211		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.3577G>C	22.37:g.50659211C>G	ENSP00000248846:p.Asp1193His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.D1193H	ENST00000248846.5	37	c.3577	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	N	7.728	0.698605	0.15106	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.24350	2.27;1.86	4.58	-0.292	0.12839	.	0.878175	0.09547	U	0.787492	T	0.23926	0.0579	L	0.32530	0.975	0.09310	N	0.999999	P;P;P	0.49961	0.93;0.93;0.674	P;P;P	0.51055	0.657;0.657;0.554	T	0.16600	-1.0397	10	0.72032	D	0.01	.	3.2035	0.06657	0.1266:0.57:0.1234:0.18	.	1185;1193;1193	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	H	1193	ENSP00000248846:D1193H;ENSP00000397387:D1193H	ENSP00000248846:D1193H	D	-	1	0	TUBGCP6	49001338	0.019000	0.18553	0.002000	0.10522	0.000000	0.00434	0.749000	0.26320	0.062000	0.16340	-1.288000	0.01363	GAT	TUBGCP6	-	pfam_Spc97_Spc98	ENSG00000128159		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	32	0.00	0	C	NM_020461		50659211	50659211	-1	no_errors	ENST00000248846	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.029	G
TXNDC16	57544	genome.wustl.edu	37	14	52978104	52978104	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:52978104C>T	ENST00000281741.4	-	9	981	c.610G>A	c.(610-612)Gag>Aag	p.E204K	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	204					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TCCACATCCTCAGAGCTACAA	0.338																																						dbGAP											0													71.0	68.0	69.0					14																	52978104		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.610G>A	14.37:g.52978104C>T	ENSP00000281741:p.Glu204Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E204K	ENST00000281741.4	37	c.610	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308428	0.23821	.	.	ENSG00000087301	ENST00000281741	T	0.18810	2.19	5.45	4.57	0.56435	.	0.379291	0.31233	N	0.008009	T	0.14614	0.0353	L	0.29908	0.895	0.20403	N	0.9999	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.002	T	0.20706	-1.0267	10	0.20046	T	0.44	-37.4308	10.541	0.45033	0.0:0.9103:0.0:0.0897	.	199;204	B7ZME4;Q9P2K2	.;TXD16_HUMAN	K	204	ENSP00000281741:E204K	ENSP00000281741:E204K	E	-	1	0	TXNDC16	52047854	0.959000	0.32827	0.581000	0.28614	0.399000	0.30720	2.643000	0.46604	1.455000	0.47813	0.460000	0.39030	GAG	TXNDC16	-	NULL	ENSG00000087301		0.338	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	38	0.00	0	C	XM_051699		52978104	52978104	-1	no_errors	ENST00000281741	ensembl	human	known	69_37n	missense	28	49.12	28	SNP	0.384	T
UACA	55075	genome.wustl.edu	37	15	70959543	70959543	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:70959543C>G	ENST00000322954.6	-	16	3665	c.3480G>C	c.(3478-3480)aaG>aaC	p.K1160N	UACA_ENST00000539319.1_Missense_Mutation_p.K1051N|UACA_ENST00000560441.1_Missense_Mutation_p.K1145N|UACA_ENST00000379983.2_Missense_Mutation_p.K1147N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1160					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						CAGAAGAGTTCTTTTGATTCT	0.388																																						dbGAP											0													163.0	163.0	163.0					15																	70959543		2199	4298	6497	-	-	-	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.3480G>C	15.37:g.70959543C>G	ENSP00000314556:p.Lys1160Asn	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.K1160N	ENST00000322954.6	37	c.3480	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339844	0.24339	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.38560	1.13;1.15;1.63	5.55	3.66	0.41972	.	0.090218	0.47852	D	0.000212	T	0.58708	0.2141	M	0.74258	2.255	0.32816	D	0.502105	D;D;D;D	0.65815	0.995;0.991;0.986;0.995	D;P;P;D	0.64687	0.928;0.848;0.776;0.928	T	0.69709	-0.5072	10	0.56958	D	0.05	-25.7134	9.7692	0.40578	0.0:0.7866:0.0:0.2134	.	1051;1160;1160;1147	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	N	1160;1147;1051	ENSP00000314556:K1160N;ENSP00000369319:K1147N;ENSP00000438667:K1051N	ENSP00000314556:K1160N	K	-	3	2	UACA	68746597	0.110000	0.22057	0.936000	0.37596	0.012000	0.07955	0.547000	0.23299	1.339000	0.45563	-0.136000	0.14681	AAG	UACA	-	NULL	ENSG00000137831		0.388	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	67	0.00	0	C			70959543	70959543	-1	no_errors	ENST00000322954	ensembl	human	known	69_37n	missense	85	13.86	14	SNP	0.616	G
UBA6	55236	genome.wustl.edu	37	4	68511732	68511732	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:68511732C>T	ENST00000322244.5	-	16	1378	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	440					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ATATCTATCTCCTCTGAAAAA	0.279																																						dbGAP											0													59.0	62.0	61.0					4																	68511732		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1319G>A	4.37:g.68511732C>T	ENSP00000313454:p.Gly440Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.G440E	ENST00000322244.5	37	c.1319	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830138	0.71258	.	.	ENSG00000033178	ENST00000322244	T	0.27720	1.65	5.33	5.33	0.75918	Molybdenum cofactor biosynthesis, MoeB (1);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	M	0.92691	3.335	0.80722	D	1	D	0.58970	0.984	P	0.47673	0.554	T	0.69491	-0.5131	10	0.66056	D	0.02	-24.5901	19.0224	0.92920	0.0:1.0:0.0:0.0	.	440	A0AVT1	UBA6_HUMAN	E	440	ENSP00000313454:G440E	ENSP00000313454:G440E	G	-	2	0	UBA6	68194327	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	6.753000	0.74904	2.468000	0.83385	0.467000	0.42956	GGA	UBA6	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000033178		0.279	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	30	0.00	0	C	NM_018227		68511732	68511732	-1	no_errors	ENST00000322244	ensembl	human	known	69_37n	missense	34	33.33	17	SNP	1.000	T
UBASH3A	53347	genome.wustl.edu	37	21	43862645	43862645	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr21:43862645C>T	ENST00000319294.6	+	12	1601	c.1570C>T	c.(1570-1572)Cca>Tca	p.P524S	UBASH3A_ENST00000291535.6_Missense_Mutation_p.P486S|UBASH3A_ENST00000398367.1_Missense_Mutation_p.P486S	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	524	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CAAAACCACCCCAACCCTCAT	0.433																																						dbGAP											0													118.0	115.0	116.0					21																	43862645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1570C>T	21.37:g.43862645C>T	ENSP00000317327:p.Pro524Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.P524S	ENST00000319294.6	37	c.1570	CCDS13687.1	21	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446796	0.43429	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.71103	-0.54;-0.54;-0.54	4.9	4.9	0.64082	Histidine phosphatase superfamily, clade-1 (1);	0.099783	0.44902	D	0.000417	D	0.84520	0.5490	M	0.84585	2.705	0.80722	D	1	D;D;D	0.69078	0.996;0.986;0.997	D;D;D	0.67548	0.919;0.92;0.952	D	0.87423	0.2383	10	0.87932	D	0	-29.8337	15.0646	0.71983	0.0:1.0:0.0:0.0	.	486;486;524	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	S	486;524;486	ENSP00000291535:P486S;ENSP00000317327:P524S;ENSP00000381408:P486S	ENSP00000291535:P486S	P	+	1	0	UBASH3A	42735714	0.516000	0.26218	0.310000	0.25168	0.185000	0.23345	3.332000	0.52083	2.280000	0.76307	0.579000	0.79373	CCA	UBASH3A	-	pfam_His_Pase_superF_clade-1	ENSG00000160185		0.433	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	UBASH3A	HGNC	protein_coding	OTTHUMT00000195382.1	53	0.00	0	C	NM_001001895		43862645	43862645	+1	no_errors	ENST00000319294	ensembl	human	known	69_37n	missense	60	34.78	32	SNP	0.248	T
UBE2Q1	55585	genome.wustl.edu	37	1	154527994	154527994	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:154527994C>G	ENST00000292211.4	-	3	526	c.447G>C	c.(445-447)ctG>ctC	p.L149L	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	149					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATCCTCTTCAGATGCTGCA	0.517																																						dbGAP											0													130.0	122.0	124.0					1																	154527994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.447G>C	1.37:g.154527994C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L149	ENST00000292211.4	37	c.447	CCDS1069.1	1																																																																																			UBE2Q1	-	superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000160714		0.517	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	34	0.00	0	C	NM_017582		154527994	154527994	-1	no_errors	ENST00000292211	ensembl	human	known	69_37n	silent	37	50.67	38	SNP	1.000	G
UBR1	197131	genome.wustl.edu	37	15	43269025	43269026	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:43269025_43269026TC>AT	ENST00000290650.4	-	39	4336_4337	c.4258_4259GA>AT	c.(4258-4260)GAc>ATc	p.D1420I	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1420					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATCAACAGGGTCATCCCAATAC	0.391																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4258_4259delinsAT	15.37:g.43269025_43269026delinsAT	ENSP00000290650:p.Asp1420Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D1420V|p.D1420N	ENST00000290650.4	37	c.4259|c.4258	CCDS10091.1	15																																																																																			UBR1	-	NULL	ENSG00000159459		0.391	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	27	0.00	0	T|C	NM_174916		43269025|43269026	43269025|43269026	-1	no_errors	ENST00000290650	ensembl	human	known	69_37n	missense	31|32	34.69	17	SNP	0.998|1.000	A|T
UBR2	23304	genome.wustl.edu	37	6	42644559	42644559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:42644559G>T	ENST00000372899.1	+	40	4684	c.4426G>T	c.(4426-4428)Gaa>Taa	p.E1476*	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Nonsense_Mutation_p.E1476*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1476					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CCCTTGTGAAGAAGAATCAGC	0.353																																						dbGAP											0													142.0	130.0	134.0					6																	42644559		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4426G>T	6.37:g.42644559G>T	ENSP00000361990:p.Glu1476*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E1476*	ENST00000372899.1	37	c.4426	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	45	11.445242	0.99562	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	.	.	.	4.53	4.53	0.55603	.	0.051626	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-3.6672	17.6616	0.88193	0.0:0.0:1.0:0.0	.	.	.	.	X	1476	.	ENSP00000361990:E1476X	E	+	1	0	UBR2	42752537	1.000000	0.71417	0.995000	0.50966	0.837000	0.47467	6.688000	0.74557	2.228000	0.72767	0.650000	0.86243	GAA	UBR2	-	NULL	ENSG00000024048		0.353	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	49	0.00	0	G	NM_015255		42644559	42644559	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	nonsense	49	28.99	20	SNP	1.000	T
UBR5	51366	genome.wustl.edu	37	8	103307462	103307462	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:103307462A>T	ENST00000520539.1	-	31	4634	c.4028T>A	c.(4027-4029)aTt>aAt	p.I1343N	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000521922.1_Missense_Mutation_p.I1337N|UBR5_ENST00000220959.4_Missense_Mutation_p.I1343N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1343					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCAAACATAATCATAGATTT	0.383																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													73.0	71.0	71.0					8																	103307462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4028T>A	8.37:g.103307462A>T	ENSP00000429084:p.Ile1343Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.I1343N	ENST00000520539.1	37	c.4028	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712654	0.89112	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.60040	0.22;0.22;0.22	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	L	0.58510	1.815	0.80722	D	1	D;D	0.57571	0.98;0.98	D;D	0.66979	0.948;0.948	T	0.75036	-0.3459	10	0.87932	D	0	.	16.1762	0.81855	1.0:0.0:0.0:0.0	.	1337;1343	E7EMW7;O95071	.;UBR5_HUMAN	N	1343;1343;1337	ENSP00000429084:I1343N;ENSP00000220959:I1343N;ENSP00000427819:I1337N	ENSP00000220959:I1343N	I	-	2	0	UBR5	103376638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.283000	0.76528	0.477000	0.44152	ATT	UBR5	-	NULL	ENSG00000104517		0.383	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	52	0.00	0	A	NM_015902		103307462	103307462	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	missense	73	19.78	18	SNP	1.000	T
UGP2	7360	genome.wustl.edu	37	2	64084985	64084985	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:64084985G>A	ENST00000337130.5	+	3	646	c.170G>A	c.(169-171)gGa>gAa	p.G57E	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Missense_Mutation_p.G46E|UGP2_ENST00000445915.2_Missense_Mutation_p.G66E|UGP2_ENST00000394417.2_Missense_Mutation_p.G46E	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	57					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GACCTGGATGGATTTCGGAAG	0.363																																						dbGAP											0													165.0	196.0	185.0					2																	64084985		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.170G>A	2.37:g.64084985G>A	ENSP00000338703:p.Gly57Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	p.G57E	ENST00000337130.5	37	c.170	CCDS1875.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586674	0.86851	.	.	ENSG00000169764	ENST00000394417;ENST00000482668;ENST00000467648;ENST00000337130;ENST00000488245;ENST00000497883;ENST00000445915;ENST00000475462;ENST00000491621;ENST00000472047	T;T;T;T;T;T;T;T;T;T	0.17213	2.38;2.29;2.38;2.38;2.29;2.29;2.38;2.29;2.38;2.29	5.91	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	M	0.74258	2.255	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.56648	0.803;0.803	T	0.01781	-1.1275	10	0.36615	T	0.2	-5.9944	14.4797	0.67573	0.0731:0.0:0.9269:0.0	.	66;57	E7EUC7;Q16851	.;UGPA_HUMAN	E	46;46;46;57;46;49;66;46;46;46	ENSP00000377939:G46E;ENSP00000419548:G46E;ENSP00000420793:G46E;ENSP00000338703:G57E;ENSP00000419442:G46E;ENSP00000420131:G49E;ENSP00000411803:G66E;ENSP00000419335:G46E;ENSP00000420342:G46E;ENSP00000419238:G46E	ENSP00000338703:G57E	G	+	2	0	UGP2	63938489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.436000	0.73417	2.802000	0.96397	0.655000	0.94253	GGA	UGP2	-	pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr	ENSG00000169764		0.363	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	43	0.00	0	G	NM_006759		64084985	64084985	+1	no_errors	ENST00000337130	ensembl	human	known	69_37n	missense	51	41.38	36	SNP	1.000	A
UNC93A	54346	genome.wustl.edu	37	6	167721350	167721350	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:167721350T>A	ENST00000230256.3	+	7	1235	c.1060T>A	c.(1060-1062)Tct>Act	p.S354T	UNC93A_ENST00000366829.2_Missense_Mutation_p.S312T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	354						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTCGTATTCTCTGGCCTGTG	0.637																																						dbGAP											0													124.0	91.0	103.0					6																	167721350		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1060T>A	6.37:g.167721350T>A	ENSP00000230256:p.Ser354Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.S354T	ENST00000230256.3	37	c.1060	CCDS5300.1	6	.	.	.	.	.	.	.	.	.	.	T	7.075	0.569076	0.13560	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.33654	1.4;2.11	4.56	-7.88	0.01178	Major facilitator superfamily domain, general substrate transporter (1);	0.382949	0.29034	N	0.013345	T	0.15132	0.0365	M	0.76574	2.34	0.09310	N	1	B;B	0.24618	0.107;0.027	B;B	0.28784	0.094;0.027	T	0.20672	-1.0268	10	0.44086	T	0.13	-0.2789	10.7192	0.46030	0.0:0.6181:0.2488:0.1331	.	312;354	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	T	354;312	ENSP00000230256:S354T;ENSP00000355794:S312T	ENSP00000230256:S354T	S	+	1	0	UNC93A	167641340	0.263000	0.24083	0.000000	0.03702	0.003000	0.03518	0.277000	0.18734	-1.527000	0.01758	-0.371000	0.07208	TCT	UNC93A	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000112494		0.637	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	35	0.00	0	T	NM_018974		167721350	167721350	+1	no_errors	ENST00000230256	ensembl	human	known	69_37n	missense	30	27.91	12	SNP	0.005	A
UPF3A	65110	genome.wustl.edu	37	13	115070305	115070305	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr13:115070305C>T	ENST00000375299.3	+	10	1400	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	UPF3A_ENST00000351487.5_Silent_p.F415F|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	448					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GAGCTCGCTTCCGAGCGCGAG	0.567																																						dbGAP											0													70.0	72.0	72.0					13																	115070305		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1344C>T	13.37:g.115070305C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	pfam_Nonsense_mediated_decay_UPF3	p.F448	ENST00000375299.3	37	c.1344	CCDS9543.1	13																																																																																			UPF3A	-	NULL	ENSG00000169062		0.567	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2	20	0.00	0	C			115070305	115070305	+1	no_errors	ENST00000375299	ensembl	human	known	69_37n	silent	24	39.02	16	SNP	0.251	T
UQCC1	55245	genome.wustl.edu	37	20	33894574	33894574	+	Silent	SNP	A	A	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:33894574A>T	ENST00000374385.5	-	9	837	c.660T>A	c.(658-660)ctT>ctA	p.L220L	UQCC1_ENST00000407996.2_Silent_p.L83L|UQCC1_ENST00000374380.2_Silent_p.L152L|UQCC1_ENST00000397556.3_Silent_p.L121L|UQCC1_ENST00000374377.5_Silent_p.L108L|UQCC1_ENST00000540457.1_Silent_p.L65L|UQCC1_ENST00000542501.1_3'UTR|UQCC1_ENST00000359226.2_Silent_p.L140L|UQCC1_ENST00000349714.5_Silent_p.L193L|UQCC1_ENST00000374384.2_Silent_p.L194L	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	220						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											GATCATCTGAAAGGATCCCCT	0.527											OREG0025889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													82.0	80.0	81.0					20																	33894574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.660T>A	20.37:g.33894574A>T		Somatic	843	WXS	Illumina GAIIx	Phase_IV	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	NULL	p.F98Y	ENST00000374385.5	37	c.293	CCDS13252.1	20																																																																																			UQCC	-	NULL	ENSG00000101019		0.527	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCC	HGNC	protein_coding	OTTHUMT00000078866.1	28	0.00	0	A	NM_018244		33894574	33894574	-1	no_start_codon	ENST00000453855	ensembl	human	known	69_37n	missense	44	15.38	8	SNP	1.000	T
UQCRB	7381	genome.wustl.edu	37	8	97244114	97244114	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:97244114C>T	ENST00000287022.5	-	3	249	c.146G>A	c.(145-147)aGa>aAa	p.R49K	UQCRB_ENST00000518406.1_Missense_Mutation_p.R49K|UQCRB_ENST00000517523.1_Missense_Mutation_p.R17K|UQCRB_ENST00000523920.1_Missense_Mutation_p.R49K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	49					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					AGGAAGTCTTCTTATGGCTTC	0.403																																						dbGAP											0													120.0	110.0	114.0					8																	97244114		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.146G>A	8.37:g.97244114C>T	ENSP00000287022:p.Arg49Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RJU0|Q6FGD1	Missense_Mutation	SNP	pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa	p.R49K	ENST00000287022.5	37	c.146	CCDS6269.1	8	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636778	0.67130	.	.	ENSG00000156467	ENST00000287022;ENST00000517523;ENST00000518406;ENST00000523920	T;T;T;T	0.46063	0.88;0.93;0.88;0.88	5.4	2.64	0.31445	.	0.091920	0.64402	N	0.000001	T	0.31327	0.0793	L	0.28776	0.89	0.45554	D	0.998508	B	0.30439	0.279	B	0.36608	0.229	T	0.06862	-1.0803	10	0.45353	T	0.12	-9.6165	7.3491	0.26680	0.0:0.5958:0.0:0.4042	.	49	P14927	QCR7_HUMAN	K	49;17;49;49	ENSP00000287022:R49K;ENSP00000429787:R17K;ENSP00000430494:R49K;ENSP00000430560:R49K	ENSP00000287022:R49K	R	-	2	0	UQCRB	97313290	0.999000	0.42202	0.999000	0.59377	0.929000	0.56500	1.421000	0.34815	0.271000	0.22005	0.591000	0.81541	AGA	UQCRB	-	pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa	ENSG00000156467		0.403	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRB	HGNC	protein_coding	OTTHUMT00000379863.1	64	0.00	0	C	NM_006294		97244114	97244114	-1	no_errors	ENST00000521036	ensembl	human	known	69_37n	missense	47	45.98	40	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216373463	216373463	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:216373463C>T	ENST00000307340.3	-	17	3703	c.3317G>A	c.(3316-3318)aGt>aAt	p.S1106N	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Splice_Site_p.S1106N|USH2A_ENST00000366943.2_Splice_Site_p.S1106N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1106	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		GTATTGAATACCTGAAATGAA	0.318										HNSCC(13;0.011)																												dbGAP											0													37.0	37.0	37.0					1																	216373463		2200	4300	6500	-	-	-	SO:0001630	splice_region_variant	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.3317-1G>A	1.37:g.216373463C>T		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.S1106N	ENST00000307340.3	37	c.3317	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	7.115	0.576888	0.13686	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;T;T	0.85013	-1.93;0.6;0.42	6.02	-6.37	0.01963	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.891942	0.09387	N	0.809134	T	0.71409	0.3336	N	0.16307	0.4	0.21782	N	0.999542	B;B	0.11235	0.004;0.0	B;B	0.11329	0.006;0.0	T	0.53165	-0.8477	10	0.30854	T	0.27	.	14.707	0.69198	0.0:0.7456:0.1124:0.1419	.	1106;1106	O75445-2;O75445	.;USH2A_HUMAN	N	1106	ENSP00000305941:S1106N;ENSP00000355910:S1106N;ENSP00000355909:S1106N	ENSP00000305941:S1106N	S	-	2	0	USH2A	214440086	0.008000	0.16893	0.011000	0.14972	0.280000	0.26924	0.038000	0.13862	-0.724000	0.04908	0.655000	0.94253	AGT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.318	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	12	0.00	0	C	NM_007123	Missense_Mutation	216373463	216373463	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	0.025	T
USP32	84669	genome.wustl.edu	37	17	58260613	58260613	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr17:58260613C>G	ENST00000300896.4	-	31	4230	c.4036G>C	c.(4036-4038)Gat>Cat	p.D1346H	USP32_ENST00000592339.1_Missense_Mutation_p.D1016H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1346	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTCTGCGCATCCACTTTCTTC	0.592																																						dbGAP											0													77.0	72.0	74.0					17																	58260613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4036G>C	17.37:g.58260613C>G	ENSP00000300896:p.Asp1346His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.D1346H	ENST00000300896.4	37	c.4036	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473964	0.26423	.	.	ENSG00000170832	ENST00000300896	T	0.48836	0.8	5.92	3.93	0.45458	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.566813	0.20693	N	0.087440	T	0.45895	0.1365	L	0.39898	1.24	0.21220	N	0.999759	B	0.32425	0.371	P	0.45506	0.483	T	0.41016	-0.9532	10	0.39692	T	0.17	.	6.8582	0.24052	0.1324:0.6731:0.1275:0.067	.	1346	Q8NFA0	UBP32_HUMAN	H	1346	ENSP00000300896:D1346H	ENSP00000300896:D1346H	D	-	1	0	USP32	55615395	0.967000	0.33354	0.009000	0.14445	0.005000	0.04900	3.911000	0.56378	0.836000	0.34901	-0.188000	0.12872	GAT	USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000170832		0.592	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	58	0.00	0	C	NM_032582		58260613	58260613	-1	no_errors	ENST00000300896	ensembl	human	known	69_37n	missense	43	36.76	25	SNP	0.017	G
USP34	9736	genome.wustl.edu	37	2	61456067	61456067	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:61456067C>T	ENST00000398571.2	-	60	7339	c.7263G>A	c.(7261-7263)gtG>gtA	p.V2421V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2421					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACAGGGTTCTCACAAAGCGAG	0.363																																						dbGAP											0													104.0	99.0	100.0					2																	61456067		1876	4107	5983	-	-	-	SO:0001819	synonymous_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7263G>A	2.37:g.61456067C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E181K	ENST00000398571.2	37	c.541	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	9.530	1.110526	0.20714	.	.	ENSG00000115464	ENST00000411912	.	.	.	6.17	3.39	0.38822	.	.	.	.	.	T	0.56470	0.1987	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51340	-0.8718	4	.	.	.	.	7.8022	0.29180	0.1251:0.6904:0.1203:0.0642	.	.	.	.	K	181	.	.	E	-	1	0	USP34	61309571	0.937000	0.31787	1.000000	0.80357	0.993000	0.82548	0.102000	0.15272	0.916000	0.36871	0.655000	0.94253	GAG	USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.363	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	41	0.00	0	C			61456067	61456067	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000411912	ensembl	human	novel	69_37n	missense	56	50.00	57	SNP	1.000	T
USP45	85015	genome.wustl.edu	37	6	99936136	99936136	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:99936136C>T	ENST00000327681.6	-	7	1186	c.654G>A	c.(652-654)atG>atA	p.M218I	USP45_ENST00000329966.6_Missense_Mutation_p.M218I|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000472914.2_Missense_Mutation_p.M218I|USP45_ENST00000369233.2_Missense_Mutation_p.M218I|USP45_ENST00000500704.2_Missense_Mutation_p.M218I	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	218	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TGATCTCATTCATCAGATCAG	0.328																																						dbGAP											0													65.0	60.0	61.0					6																	99936136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.654G>A	6.37:g.99936136C>T	ENSP00000333376:p.Met218Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.M218I	ENST00000327681.6	37	c.654	CCDS34501.1	6	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724278	0.30593	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000329966;ENST00000472914	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	4.85	3.94	0.45596	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.137856	0.64402	N	0.000003	T	0.13927	0.0337	L	0.37507	1.11	0.80722	D	1	B;B	0.29955	0.026;0.263	B;B	0.38056	0.054;0.264	T	0.04737	-1.0930	10	0.41790	T	0.15	.	14.3291	0.66541	0.1496:0.8504:0.0:0.0	.	218;218	D6RBV3;Q70EL2	.;UBP45_HUMAN	I	218	ENSP00000424372:M218I;ENSP00000333376:M218I;ENSP00000358236:M218I;ENSP00000330540:M218I;ENSP00000423993:M218I	ENSP00000333376:M218I	M	-	3	0	USP45	100042857	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	2.803000	0.47924	1.105000	0.41606	0.591000	0.81541	ATG	USP45	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000123552		0.328	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	28	0.00	0	C	NM_032929		99936136	99936136	-1	no_errors	ENST00000327681	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	1.000	T
USP8	9101	genome.wustl.edu	37	15	50751285	50751285	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:50751285G>A	ENST00000396444.3	+	5	762	c.424G>A	c.(424-426)Gga>Aga	p.G142R	USP8_ENST00000433963.1_Missense_Mutation_p.G142R|USP8_ENST00000307179.4_Missense_Mutation_p.G142R|USP8_ENST00000425032.3_Missense_Mutation_p.G65R	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	142					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCAGGAAACAGGAAGAGAGGA	0.403																																						dbGAP											0													90.0	91.0	90.0					15																	50751285		2196	4294	6490	-	-	-	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.424G>A	15.37:g.50751285G>A	ENSP00000379721:p.Gly142Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.G142R	ENST00000396444.3	37	c.424	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263395	0.59431	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.18657	2.2;2.2;2.2;2.24	5.84	4.91	0.64330	.	0.250334	0.36854	N	0.002375	T	0.14442	0.0349	N	0.24115	0.695	0.28062	N	0.932949	B;B	0.18610	0.029;0.029	B;B	0.18871	0.023;0.023	T	0.14448	-1.0472	10	0.20046	T	0.44	-13.9257	12.9319	0.58292	0.0:0.1626:0.8374:0.0	.	65;142	B4DKA8;P40818	.;UBP8_HUMAN	R	142;142;142;65	ENSP00000379721:G142R;ENSP00000405537:G142R;ENSP00000302239:G142R;ENSP00000412682:G65R	ENSP00000302239:G142R	G	+	1	0	USP8	48538577	0.999000	0.42202	0.954000	0.39281	0.801000	0.45260	3.290000	0.51755	1.439000	0.47511	0.650000	0.86243	GGA	USP8	-	NULL	ENSG00000138592		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	87	0.00	0	G	NM_005154		50751285	50751285	+1	no_errors	ENST00000307179	ensembl	human	known	69_37n	missense	94	22.95	28	SNP	0.998	A
USP9X	8239	genome.wustl.edu	37	X	41047365	41047365	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:41047365G>C	ENST00000324545.8	+	25	4438	c.3805G>C	c.(3805-3807)Gag>Cag	p.E1269Q	USP9X_ENST00000378308.2_Missense_Mutation_p.E1269Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1269					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|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 protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAAAATTTATGAGAAGGTAAG	0.289																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													54.0	51.0	52.0					X																	41047365		2065	4216	6281	-	-	-	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3805G>C	X.37:g.41047365G>C	ENSP00000316357:p.Glu1269Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E1269Q	ENST00000324545.8	37	c.3805	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461895	0.63513	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03212	4.01;4.01	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.05593	0.0147	L	0.43152	1.355	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.007	T	0.43540	-0.9385	10	0.24483	T	0.36	.	18.5223	0.90958	0.0:0.0:1.0:0.0	.	1269;1269	Q93008-1;Q93008	.;USP9X_HUMAN	Q	1269	ENSP00000367558:E1269Q;ENSP00000316357:E1269Q	ENSP00000316357:E1269Q	E	+	1	0	USP9X	40932309	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.315000	0.78130	0.513000	0.50165	GAG	USP9X	-	NULL	ENSG00000124486		0.289	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	34	0.00	0	G	NM_004652		41047365	41047365	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	missense	67	26.37	24	SNP	1.000	C
UTRN	7402	genome.wustl.edu	37	6	144860468	144860468	+	Silent	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:144860468C>G	ENST00000367545.3	+	44	6408	c.6408C>G	c.(6406-6408)ctC>ctG	p.L2136L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2136					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGAAAAACTCAAATGGCTGA	0.348																																						dbGAP											0													97.0	96.0	96.0					6																	144860468		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6408C>G	6.37:g.144860468C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.L2136	ENST00000367545.3	37	c.6408	CCDS34547.1	6																																																																																			UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.348	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	29	0.00	0	C			144860468	144860468	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	silent	35	30.00	15	SNP	0.947	G
VANGL2	57216	genome.wustl.edu	37	1	160389350	160389350	+	Missense_Mutation	SNP	G	G	A	rs536256783		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:160389350G>A	ENST00000368061.2	+	4	1225	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	251					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCAAGGTCGTGCGCTCCAC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14037	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													30.0	34.0	33.0					1																	160389350		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.751G>A	1.37:g.160389350G>A	ENSP00000357040:p.Val251Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.V251M	ENST00000368061.2	37	c.751	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715857	0.89112	.	.	ENSG00000162738	ENST00000368061	D	0.82711	-1.64	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.88631	0.3169	10	0.54805	T	0.06	-20.5063	17.7935	0.88562	0.0:0.0:1.0:0.0	.	251	Q9ULK5	VANG2_HUMAN	M	251	ENSP00000357040:V251M	ENSP00000357040:V251M	V	+	1	0	VANGL2	158655974	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.383000	0.79741	2.606000	0.88127	0.563000	0.77884	GTG	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.637	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	24	0.00	0	G	NM_020335		160389350	160389350	+1	no_errors	ENST00000368061	ensembl	human	known	69_37n	missense	22	34.29	12	SNP	1.000	A
VARS	7407	genome.wustl.edu	37	6	31752262	31752262	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:31752262C>T	ENST00000375663.3	-	12	1925	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	VARS_ENST00000444930.2_Silent_p.L200L|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	495					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TGCGACCTGTCAGCTCCTTCT	0.592																																						dbGAP											0													70.0	73.0	72.0					6																	31752262		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1485G>A	6.37:g.31752262C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase	p.L495	ENST00000375663.3	37	c.1485	CCDS34412.1	6																																																																																			VARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_synthetase	ENSG00000204394		0.592	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	16	0.00	0	C	NM_006295		31752262	31752262	-1	no_errors	ENST00000375663	ensembl	human	known	69_37n	silent	23	27.27	9	SNP	0.365	T
VPS13B	157680	genome.wustl.edu	37	8	100791109	100791109	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:100791109G>A	ENST00000358544.2	+	42	7815	c.7704G>A	c.(7702-7704)gtG>gtA	p.V2568V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V2543V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2568					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAGTGTGGTGAAACCCTTCA	0.448																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													134.0	121.0	125.0					8																	100791109		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7704G>A	8.37:g.100791109G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.V2568	ENST00000358544.2	37	c.7704	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.448	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	32	0.00	0	G	NM_184042		100791109	100791109	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	silent	40	25.93	14	SNP	0.498	A
VPS13D	55187	genome.wustl.edu	37	1	12337412	12337412	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:12337412C>T	ENST00000358136.3	+	19	3897	c.3767C>T	c.(3766-3768)tCt>tTt	p.S1256F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S1256F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TACTTTGAATCTGTGTTTGTC	0.388																																						dbGAP											0													136.0	141.0	139.0					1																	12337412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3767C>T	1.37:g.12337412C>T	ENSP00000350854:p.Ser1256Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S1256F	ENST00000358136.3	37	c.3767	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.540879	0.45280	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.55588	0.51;0.51	5.91	4.98	0.66077	.	0.273852	0.31976	N	0.006771	T	0.48205	0.1487	L	0.46157	1.445	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.43196	-0.9406	10	0.54805	T	0.06	.	15.1852	0.72996	0.0:0.7237:0.2763:0.0	.	1256;1256	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	F	1256	ENSP00000348666:S1256F;ENSP00000350854:S1256F	ENSP00000348666:S1256F	S	+	2	0	VPS13D	12259999	0.998000	0.40836	0.990000	0.47175	0.990000	0.78478	2.108000	0.41854	1.459000	0.47892	0.655000	0.94253	TCT	VPS13D	-	NULL	ENSG00000048707		0.388	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	41	0.00	0	C	NM_015378		12337412	12337412	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.992	T
WASF2	10163	genome.wustl.edu	37	1	27745512	27745512	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:27745512C>G	ENST00000430629.2	-	3	423	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	WASF2_ENST00000536657.1_Missense_Mutation_p.E70Q	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	70					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TCGACCCTCTCAGCAAGGGAG	0.483																																						dbGAP											0													106.0	106.0	106.0					1																	27745512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.208G>C	1.37:g.27745512C>G	ENSP00000396211:p.Glu70Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E70Q	ENST00000430629.2	37	c.208	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223007	0.39300	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.69685	-0.42;-0.42	5.37	3.51	0.40186	.	0.157760	0.56097	D	0.000040	T	0.66752	0.2821	L	0.37850	1.14	0.58432	D	0.999995	P;P	0.50066	0.931;0.802	P;B	0.55391	0.775;0.098	T	0.62081	-0.6929	10	0.32370	T	0.25	-4.3641	11.7469	0.51825	0.0:0.8601:0.0:0.1399	.	70;70	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	Q	70	ENSP00000396211:E70Q;ENSP00000439883:E70Q	ENSP00000396211:E70Q	E	-	1	0	WASF2	27618099	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.721000	0.68477	0.652000	0.30806	-0.806000	0.03193	GAG	WASF2	-	NULL	ENSG00000158195		0.483	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	55	0.00	0	C	NM_006990		27745512	27745512	-1	no_errors	ENST00000430629	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	0.999	G
WBSCR28	135886	genome.wustl.edu	37	7	73279592	73279592	+	Silent	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:73279592C>A	ENST00000320531.2	+	2	378	c.342C>A	c.(340-342)ctC>ctA	p.L114L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	114						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TGGCCTTGCTCAGTGCCTGGG	0.612																																						dbGAP											0													51.0	52.0	51.0					7																	73279592		2135	4236	6371	-	-	-	SO:0001819	synonymous_variant	0			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.342C>A	7.37:g.73279592C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UE04|Q8NHP4	Silent	SNP	NULL	p.L114	ENST00000320531.2	37	c.342	CCDS43597.1	7																																																																																			WBSCR28	-	NULL	ENSG00000175877		0.612	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR28	HGNC	protein_coding	OTTHUMT00000348130.1	61	0.00	0	C	NM_182504		73279592	73279592	+1	no_errors	ENST00000320531	ensembl	human	known	69_37n	silent	66	35.29	36	SNP	0.000	A
WDR44	54521	genome.wustl.edu	37	X	117570782	117570782	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:117570782C>G	ENST00000254029.3	+	14	2364	c.1969C>G	c.(1969-1971)Cca>Gca	p.P657A	WDR44_ENST00000371822.5_Missense_Mutation_p.P632A|WDR44_ENST00000371825.3_Missense_Mutation_p.P657A	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	657						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						AGCTTTTCATCCAAGAGTAAG	0.348																																						dbGAP											0													88.0	77.0	81.0					X																	117570782		2202	4298	6500	-	-	-	SO:0001583	missense	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.1969C>G	X.37:g.117570782C>G	ENSP00000254029:p.Pro657Ala	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.P657A	ENST00000254029.3	37	c.1969	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.346995|4.346995	0.82022|0.82022	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919|ENST00000371848	D;T;T|.	0.85171|.	-1.95;-0.51;-0.51|.	5.43|5.43	5.43|5.43	0.79202|0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76702|0.76702	0.4024|0.4024	M|M	0.74467|0.74467	2.265|2.265	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|.	0.97110|.	1.0;1.0;0.999;1.0|.	T|T	0.76482|0.76482	-0.2943|-0.2943	10|5	0.87932|.	D|.	0|.	-5.4272|-5.4272	18.5314|18.5314	0.90993|0.90993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	632;657;657;657|.	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3|.	.;.;.;WDR44_HUMAN|.	A|C	632;657;657;43|556	ENSP00000360887:P632A;ENSP00000254029:P657A;ENSP00000360890:P657A|.	ENSP00000254029:P657A|.	P|S	+|+	1|2	0|0	WDR44|WDR44	117454810|117454810	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	7.729000|7.729000	0.84864|0.84864	2.405000|2.405000	0.81733|0.81733	0.591000|0.591000	0.81541|0.81541	CCA|TCC	WDR44	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000131725		0.348	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	73	0.00	0	C	NM_019045		117570782	117570782	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	missense	96	26.72	35	SNP	1.000	G
WDR6	11180	genome.wustl.edu	37	3	49052659	49052659	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:49052659G>C	ENST00000608424.1	+	6	3343	c.3304G>C	c.(3304-3306)Gag>Cag	p.E1102Q	WDR6_ENST00000395474.3_Missense_Mutation_p.E1132Q|WDR6_ENST00000448293.1_Missense_Mutation_p.E1051Q|WDR6_ENST00000415265.2_Missense_Mutation_p.E550Q|DALRD3_ENST00000496568.1_5'Flank			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	1102					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGTGAGCCCTGAGTTTGGCCA	0.592																																						dbGAP											0													100.0	76.0	84.0					3																	49052659		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.3304G>C	3.37:g.49052659G>C	ENSP00000477389:p.Glu1102Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1132Q	ENST00000608424.1	37	c.3394		3	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346930	0.41599	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T	0.61040	0.14;0.15	5.54	3.66	0.41972	.	0.312652	0.29093	N	0.013173	T	0.33440	0.0863	L	0.29908	0.895	0.31236	N	0.695809	B;B;P	0.37864	0.01;0.165;0.61	B;B;B	0.25884	0.007;0.064;0.064	T	0.31052	-0.9957	10	0.27082	T	0.32	-22.9807	5.8202	0.18524	0.1558:0.0:0.6816:0.1625	.	550;1102;1051	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	Q	1132;550;1051	ENSP00000378857:E1132Q;ENSP00000413432:E1051Q	ENSP00000378857:E1132Q	E	+	1	0	WDR6	49027663	0.998000	0.40836	0.992000	0.48379	0.985000	0.73830	2.430000	0.44766	2.611000	0.88343	0.561000	0.74099	GAG	WDR6	-	NULL	ENSG00000178252		0.592	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	18	0.00	0	G			49052659	49052659	+1	no_errors	ENST00000395474	ensembl	human	known	69_37n	missense	12	66.67	24	SNP	0.836	C
CFAP44	55779	genome.wustl.edu	37	3	113082085	113082085	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr3:113082085C>T	ENST00000295868.2	-	21	3003	c.2841G>A	c.(2839-2841)cgG>cgA	p.R947R	WDR52_ENST00000393845.2_Silent_p.R947R	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GCTCTCTCTTCCGTGCCTTTA	0.333																																						dbGAP											0													108.0	111.0	110.0					3																	113082085		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000295868.2:c.2841G>A	3.37:g.113082085C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E25K	ENST00000295868.2	37	c.73	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	C	0.233	-1.019335	0.02078	.	.	ENSG00000206530	ENST00000465636	.	.	.	6.16	-2.11	0.07187	.	.	.	.	.	T	0.51244	0.1663	.	.	.	0.52501	D	0.999955	.	.	.	.	.	.	T	0.46693	-0.9173	4	.	.	.	1.353	7.2465	0.26125	0.0:0.4529:0.313:0.234	.	.	.	.	K	84	.	.	E	-	1	0	WDR52	114564775	0.009000	0.17119	0.055000	0.19348	0.109000	0.19521	-0.112000	0.10791	-0.090000	0.12462	0.650000	0.86243	GAA	WDR52	-	NULL	ENSG00000206530		0.333	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	72	0.00	0	C			113082085	113082085	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000490481	ensembl	human	known	69_37n	missense	50	55.93	66	SNP	0.019	T
TBC1D31	93594	genome.wustl.edu	37	8	124164049	124164049	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:124164049C>G	ENST00000287380.1	+	22	3161	c.3071C>G	c.(3070-3072)tCt>tGt	p.S1024C	TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000521676.1_Missense_Mutation_p.S901C|TBC1D31_ENST00000309336.3_Missense_Mutation_p.S959C|TBC1D31_ENST00000518805.1_Missense_Mutation_p.S578C|TBC1D31_ENST00000327098.5_Missense_Mutation_p.S928C|TBC1D31_ENST00000522420.1_Missense_Mutation_p.S919C	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	1024						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTCAAGTTTCTTTAAATAGA	0.358																																						dbGAP											0													39.0	42.0	41.0					8																	124164049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.3071C>G	8.37:g.124164049C>G	ENSP00000287380:p.Ser1024Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.S1024C	ENST00000287380.1	37	c.3071	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337901	0.41398	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	T;T;T;T;D;T	0.81908	-0.75;-0.92;-1.07;-1.23;-1.55;0.85	5.13	2.18	0.27775	.	0.209912	0.41500	N	0.000875	T	0.71945	0.3400	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.12013	0.001;0.005;0.004;0.002	B;B;B;B	0.12156	0.003;0.007;0.005;0.003	T	0.64132	-0.6479	10	0.72032	D	0.01	-1.5867	8.9688	0.35894	0.0:0.6374:0.282:0.0806	.	928;959;919;1024	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	C	1024;959;928;919;901;578	ENSP00000287380:S1024C;ENSP00000308358:S959C;ENSP00000312701:S928C;ENSP00000429334:S919C;ENSP00000430628:S901C;ENSP00000429494:S578C	ENSP00000287380:S1024C	S	+	2	0	WDR67	124233230	1.000000	0.71417	0.020000	0.16555	0.515000	0.34225	2.007000	0.40883	0.212000	0.20703	0.491000	0.48974	TCT	WDR67	-	NULL	ENSG00000156787		0.358	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR67	HGNC	protein_coding	OTTHUMT00000381721.1	43	0.00	0	C	NM_145647		124164049	124164049	+1	no_errors	ENST00000287380	ensembl	human	known	69_37n	missense	29	39.58	19	SNP	0.973	G
WDR72	256764	genome.wustl.edu	37	15	53815460	53815460	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:53815460C>T	ENST00000396328.1	-	19	3447	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	WDR72_ENST00000559418.1_Missense_Mutation_p.E1080K|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_Missense_Mutation_p.E1067K|WDR72_ENST00000360509.5_Missense_Mutation_p.E1070K	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1070										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGCATGTCCTCCACGTCTTGG	0.443																																						dbGAP											0													191.0	183.0	185.0					15																	53815460		2194	4293	6487	-	-	-	SO:0001583	missense	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3208G>A	15.37:g.53815460C>T	ENSP00000379619:p.Glu1070Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1070K	ENST00000396328.1	37	c.3208	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379119	0.24944	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.36878	1.23;1.23	6.17	5.26	0.73747	.	0.000000	0.64402	D	0.000007	T	0.36441	0.0967	L	0.54323	1.7	0.35143	D	0.769069	B	0.12013	0.005	B	0.14023	0.01	T	0.42965	-0.9420	10	0.45353	T	0.12	.	14.9038	0.70703	0.0:0.9319:0.0:0.0681	.	1070	Q3MJ13	WDR72_HUMAN	K	1070	ENSP00000379619:E1070K;ENSP00000353699:E1070K	ENSP00000353699:E1070K	E	-	1	0	WDR72	51602752	0.990000	0.36364	0.914000	0.36105	0.458000	0.32498	2.952000	0.49097	1.633000	0.50488	-0.137000	0.14449	GAG	WDR72	-	NULL	ENSG00000166415		0.443	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	60	0.00	0	C	NM_182758		53815460	53815460	-1	no_errors	ENST00000360509	ensembl	human	known	69_37n	missense	96	18.64	22	SNP	0.989	T
WDR93	56964	genome.wustl.edu	37	15	90265345	90265345	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:90265345G>A	ENST00000268130.7	+	8	956	c.855G>A	c.(853-855)aaG>aaA	p.K285K	WDR93_ENST00000560294.1_Silent_p.K285K|WDR93_ENST00000444934.2_Silent_p.K2K	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	285					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ACATAATGAAGATCAAACCAC	0.348																																						dbGAP											0													129.0	124.0	126.0					15																	90265345		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.855G>A	15.37:g.90265345G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7Y8|Q9NP89	Silent	SNP	superfamily_WD40_repeat_dom	p.K285	ENST00000268130.7	37	c.855	CCDS32326.1	15																																																																																			WDR93	-	superfamily_WD40_repeat_dom	ENSG00000140527		0.348	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	61	0.00	0	G	NM_020212		90265345	90265345	+1	no_errors	ENST00000268130	ensembl	human	known	69_37n	silent	61	22.78	18	SNP	0.999	A
WFDC8	90199	genome.wustl.edu	37	20	44190777	44190777	+	Silent	SNP	A	A	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:44190777A>C	ENST00000357199.4	-	2	186	c.108T>G	c.(106-108)acT>acG	p.T36T	RNA5SP485_ENST00000365053.1_RNA|WFDC8_ENST00000289953.2_Silent_p.T36T	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	36						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GCATTGCAGAAGTCCACTCCA	0.478																																						dbGAP											0													98.0	87.0	90.0					20																	44190777		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"""WAP four-disulfide core domain containing"""	16163	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 170"""	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.108T>G	20.37:g.44190777A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P623|Q5TDV2|Q96A34	Silent	SNP	pfam_Whey_acidic_protein_4-diS_core,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,prints_4-disulphide_core,pfscan_Prot_inh_Kunz-m	p.T36	ENST00000357199.4	37	c.108	CCDS13361.1	20																																																																																			WFDC8	-	superfamily_Whey_acidic_protein_4-diS_core	ENSG00000158901		0.478	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC8	HGNC	protein_coding	OTTHUMT00000106958.1	48	0.00	0	A			44190777	44190777	-1	no_errors	ENST00000289953	ensembl	human	known	69_37n	silent	51	20.00	13	SNP	0.000	C
WSCD2	9671	genome.wustl.edu	37	12	108589796	108589796	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:108589796G>A	ENST00000332082.4	+	3	1005	c.187G>A	c.(187-189)Gag>Aag	p.E63K	WSCD2_ENST00000261400.3_Missense_Mutation_p.E63K|WSCD2_ENST00000547525.1_Missense_Mutation_p.E63K|WSCD2_ENST00000549903.1_Missense_Mutation_p.E63K			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	63						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGAGGGTGCTGAGCTGTCCTT	0.617																																						dbGAP											0													130.0	134.0	133.0					12																	108589796		2065	4210	6275	-	-	-	SO:0001583	missense	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.187G>A	12.37:g.108589796G>A	ENSP00000331933:p.Glu63Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.E63K	ENST00000332082.4	37	c.187	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864443	0.32977	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.32515	1.46;1.45;1.46;1.45	5.74	5.74	0.90152	.	0.160269	0.43919	D	0.000512	T	0.29423	0.0733	L	0.47716	1.5	0.41978	D	0.990783	B	0.30482	0.281	B	0.21917	0.037	T	0.03212	-1.1060	10	0.30078	T	0.28	-42.7853	18.8897	0.92395	0.0:0.0:1.0:0.0	.	63	Q2TBF2	WSCD2_HUMAN	K	63	ENSP00000448047:E63K;ENSP00000261400:E63K;ENSP00000331933:E63K;ENSP00000447272:E63K	ENSP00000261400:E63K	E	+	1	0	WSCD2	107113926	1.000000	0.71417	0.990000	0.47175	0.027000	0.11550	9.026000	0.93700	2.704000	0.92352	0.655000	0.94253	GAG	WSCD2	-	NULL	ENSG00000075035		0.617	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	25	0.00	0	G	NM_014653		108589796	108589796	+1	no_errors	ENST00000261400	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	1.000	A
XPO1	7514	genome.wustl.edu	37	2	61726027	61726027	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:61726027C>T	ENST00000401558.2	-	8	1339	c.612G>A	c.(610-612)caG>caA	p.Q204Q	XPO1_ENST00000406957.1_Silent_p.Q204Q|XPO1_ENST00000404992.2_Silent_p.Q204Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	204	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GTTGAAATATCTGTGAGAATT	0.244			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													25.0	25.0	25.0					2																	61726027		2193	4296	6489	-	-	-	SO:0001819	synonymous_variant	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.612G>A	2.37:g.61726027C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q204	ENST00000401558.2	37	c.612	CCDS33205.1	2																																																																																			XPO1	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000082898		0.244	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	31	0.00	0	C	NM_003400		61726027	61726027	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	silent	52	24.29	17	SNP	0.653	T
XIRP2	129446	genome.wustl.edu	37	2	168106123	168106123	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:168106123C>G	ENST00000409195.1	+	9	8310	c.8221C>G	c.(8221-8223)Caa>Gaa	p.Q2741E	XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2741E|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2519E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2566					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATTGATGTTCAAACCTTTAC	0.338																																						dbGAP											0													65.0	62.0	63.0					2																	168106123		1858	4087	5945	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8221C>G	2.37:g.168106123C>G	ENSP00000386840:p.Gln2741Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.Q2741E	ENST00000409195.1	37	c.8221	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237623	0.39598	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03004	4.08;4.08;4.08	5.98	5.98	0.97165	.	0.602886	0.17429	N	0.174536	T	0.09818	0.0241	M	0.67953	2.075	0.27423	N	0.954236	P;P;P	0.52316	0.919;0.952;0.952	B;P;P	0.46659	0.324;0.523;0.523	T	0.19321	-1.0309	10	0.27082	T	0.32	-8.6361	19.2148	0.93772	0.0:1.0:0.0:0.0	.	2566;2566;2519	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	2741;2741;2519;155	ENSP00000386840:Q2741E;ENSP00000295237:Q2741E;ENSP00000387255:Q2519E	ENSP00000295237:Q2741E	Q	+	1	0	XIRP2	167814369	0.996000	0.38824	0.218000	0.23776	0.078000	0.17371	4.492000	0.60334	2.838000	0.97847	0.655000	0.94253	CAA	XIRP2	-	NULL	ENSG00000163092		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	30	0.00	0	C	NM_152381		168106123	168106123	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	0.711	G
XPO6	23214	genome.wustl.edu	37	16	28123292	28123292	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:28123292G>C	ENST00000304658.5	-	17	2687	c.2187C>G	c.(2185-2187)atC>atG	p.I729M	XPO6_ENST00000565698.1_Missense_Mutation_p.I715M	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	729					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GAAGCAGCAAGATGTTAGAGA	0.592																																						dbGAP											0													54.0	57.0	56.0					16																	28123292		2081	4209	6290	-	-	-	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2187C>G	16.37:g.28123292G>C	ENSP00000302790:p.Ile729Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I729M	ENST00000304658.5	37	c.2187	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836219	0.32421	.	.	ENSG00000169180	ENST00000304658	T	0.71103	-0.54	5.77	2.53	0.30540	Armadillo-like helical (1);Armadillo-type fold (1);	0.210797	0.49916	D	0.000139	T	0.36441	0.0967	N	0.01705	-0.755	0.26295	N	0.978064	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15723	-1.0427	10	0.22706	T	0.39	-10.9843	5.5414	0.17039	0.0813:0.1406:0.633:0.145	.	729;729	B7ZM10;Q96QU8	.;XPO6_HUMAN	M	729	ENSP00000302790:I729M	ENSP00000302790:I729M	I	-	3	3	XPO6	28030793	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	0.966000	0.29331	2.745000	0.94114	0.650000	0.86243	ATC	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.592	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	45	0.00	0	G	XM_055195		28123292	28123292	-1	no_errors	ENST00000304658	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	0.999	C
YLPM1	56252	genome.wustl.edu	37	14	75266088	75266088	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr14:75266088G>A	ENST00000325680.7	+	5	4212	c.4088G>A	c.(4087-4089)cGa>cAa	p.R1363Q	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1168Q|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1168					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)		GGGTATGATCGAGATTTCCGT	0.478																																						dbGAP											0													199.0	185.0	190.0					14																	75266088		1893	4137	6030	-	-	-	SO:0001583	missense	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	ENST00000325680.7:c.4088G>A	14.37:g.75266088G>A	ENSP00000324463:p.Arg1363Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.R1363Q	ENST00000325680.7	37	c.4088	CCDS45135.1	14	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197479	0.58126	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.97	5.08	0.68730	.	0.116753	0.38111	N	0.001809	T	0.53594	0.1806	L	0.51422	1.61	0.34464	D	0.702069	B	0.21452	0.056	B	0.17433	0.018	T	0.63093	-0.6714	9	0.56958	D	0.05	-3.6583	15.2926	0.73879	0.0668:0.0:0.9332:0.0	.	1363	P49750-4	.	Q	1363;1168;1076	.	ENSP00000238571:R1168Q	R	+	2	0	YLPM1	74335841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.233000	0.58651	1.560000	0.49568	0.537000	0.68136	CGA	YLPM1	-	NULL	ENSG00000119596		0.478	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404451.1	37	0.00	0	G	NM_019589		75266088	75266088	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	missense	23	54.00	27	SNP	1.000	A
ZAK	51776	genome.wustl.edu	37	2	173955864	173955864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:173955864G>A	ENST00000375213.3	+	2	183	c.105G>A	c.(103-105)tgG>tgA	p.W35*	MLTK_ENST00000431503.2_Intron|MLTK_ENST00000338983.3_Nonsense_Mutation_p.W35*|MLTK_ENST00000409176.2_Nonsense_Mutation_p.W35*|MLTK_ENST00000539448.1_Nonsense_Mutation_p.W35*	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		35	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GAGCCAAATGGATATCACAGG	0.428																																						dbGAP											0													88.0	89.0	89.0					2																	173955864		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000375213.3:c.105G>A	2.37:g.173955864G>A	ENSP00000364361:p.Trp35*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W35*	ENST00000375213.3	37	c.105	CCDS42777.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.497087	0.98319	.	.	ENSG00000091436	ENST00000539448;ENST00000409176;ENST00000338983;ENST00000375213;ENST00000422149	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7604	0.96314	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000340257:W35X	W	+	3	0	AC013461.1	173664110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.675000	0.91044	0.655000	0.94253	TGG	AC013461.1	-	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	ENSG00000091436		0.428	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Clone_based_vega_gene	protein_coding	OTTHUMT00000255401.1	38	0.00	0	G			173955864	173955864	+1	no_errors	ENST00000375213	ensembl	human	known	69_37n	nonsense	51	19.05	12	SNP	1.000	A
ZC3H7B	23264	genome.wustl.edu	37	22	41726065	41726065	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr22:41726065G>A	ENST00000352645.4	+	6	740	c.483G>A	c.(481-483)caG>caA	p.Q161Q	ZC3H7B_ENST00000351589.4_Silent_p.Q161Q	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	161					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGCTGGCCCAGAAACTGGGGC	0.622																																						dbGAP											0													68.0	67.0	68.0					22																	41726065		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.483G>A	22.37:g.41726065G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q161	ENST00000352645.4	37	c.483	CCDS14013.1	22																																																																																			ZC3H7B	-	NULL	ENSG00000100403		0.622	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	34	0.00	0	G	NM_017590		41726065	41726065	+1	no_errors	ENST00000351589	ensembl	human	known	69_37n	silent	31	36.73	18	SNP	1.000	A
ZC3HC1	51530	genome.wustl.edu	37	7	129666140	129666140	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:129666140C>G	ENST00000358303.4	-	6	718	c.634G>C	c.(634-636)Gac>Cac	p.D212H	RNA5SP245_ENST00000364239.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.D212H|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.D212H|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.D191H|RP11-306G20.1_ENST00000480018.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	212					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CTGATCTTGTCTTCTGTCAAG	0.383																																					Melanoma(115;540 1606 16325 28853 48167)	dbGAP											0													143.0	123.0	130.0					7																	129666140		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.634G>C	7.37:g.129666140C>G	ENSP00000351052:p.Asp212His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	pfam_Znf_C3HC-like,pfam_NIPA/Rsm1	p.D212H	ENST00000358303.4	37	c.634	CCDS34753.1	7	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717576	0.89205	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503	T;T;T;T	0.50813	1.31;0.73;1.32;0.78	6.17	6.17	0.99709	.	0.155486	0.56097	D	0.000030	T	0.59702	0.2213	L	0.29908	0.895	0.52501	D	0.99995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.923;0.945	T	0.58498	-0.7626	10	0.59425	D	0.04	-15.0863	19.4432	0.94831	0.0:1.0:0.0:0.0	.	212;212;212	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	H	212;212;191;212	ENSP00000351052:D212H;ENSP00000353933:D212H;ENSP00000309301:D191H;ENSP00000418533:D212H	ENSP00000309301:D191H	D	-	1	0	ZC3HC1	129453376	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.462000	0.66707	2.941000	0.99782	0.655000	0.94253	GAC	ZC3HC1	-	NULL	ENSG00000091732		0.383	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HC1	HGNC	protein_coding	OTTHUMT00000349316.1	34	0.00	0	C	NM_016478		129666140	129666140	-1	no_errors	ENST00000358303	ensembl	human	known	69_37n	missense	57	22.67	17	SNP	1.000	G
ZCCHC2	54877	genome.wustl.edu	37	18	60225997	60225997	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr18:60225997G>C	ENST00000269499.5	+	7	1904	c.1486G>C	c.(1486-1488)Gaa>Caa	p.E496Q	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.E175Q	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	496						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCAAGTCAAGAAGAAGGTAA	0.363																																						dbGAP											0													39.0	35.0	36.0					18																	60225997		1797	4025	5822	-	-	-	SO:0001583	missense	0			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.1486G>C	18.37:g.60225997G>C	ENSP00000269499:p.Glu496Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E496Q	ENST00000269499.5	37	c.1486	CCDS45880.1	18	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530694	0.85706	.	.	ENSG00000141664	ENST00000269499	T	0.26373	1.74	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000005	T	0.42607	0.1210	L	0.53249	1.67	0.52099	D	0.999944	D	0.71674	0.998	P	0.55713	0.782	T	0.05099	-1.0906	10	0.42905	T	0.14	-15.5751	19.76	0.96311	0.0:0.0:1.0:0.0	.	496	Q9C0B9	ZCHC2_HUMAN	Q	496	ENSP00000269499:E496Q	ENSP00000269499:E496Q	E	+	1	0	ZCCHC2	58376977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.003000	0.70701	2.753000	0.94483	0.655000	0.94253	GAA	ZCCHC2	-	NULL	ENSG00000141664		0.363	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	ZCCHC2	HGNC	protein_coding	OTTHUMT00000450083.1	30	0.00	0	G	NM_017742		60225997	60225997	+1	no_errors	ENST00000269499	ensembl	human	known	69_37n	missense	17	43.33	13	SNP	1.000	C
ZDBF2	57683	genome.wustl.edu	37	2	207174095	207174095	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:207174095G>C	ENST00000374423.3	+	5	5229	c.4843G>C	c.(4843-4845)Gag>Cag	p.E1615Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1615							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TATTCTGGGAGAGCCAAGTTG	0.383																																						dbGAP											0													26.0	26.0	26.0					2																	207174095		1826	4075	5901	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4843G>C	2.37:g.207174095G>C	ENSP00000363545:p.Glu1615Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.E1615Q	ENST00000374423.3	37	c.4843	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281140	0.23392	.	.	ENSG00000204186	ENST00000374423	T	0.53423	0.62	3.93	3.05	0.35203	.	.	.	.	.	T	0.48150	0.1484	L	0.50333	1.59	0.09310	N	1	P	0.51057	0.941	P	0.49597	0.616	T	0.32348	-0.9910	9	0.54805	T	0.06	.	7.7657	0.28978	0.1143:0.0:0.8857:0.0	.	1615	Q9HCK1	ZDBF2_HUMAN	Q	1615	ENSP00000363545:E1615Q	ENSP00000363545:E1615Q	E	+	1	0	ZDBF2	206882340	0.998000	0.40836	0.072000	0.20136	0.037000	0.13140	2.333000	0.43912	1.240000	0.43803	-0.150000	0.13652	GAG	ZDBF2	-	NULL	ENSG00000204186		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	8	0.00	0	G	NM_020923		207174095	207174095	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	0.088	C
ZDBF2	57683	genome.wustl.edu	37	2	207174272	207174272	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:207174272C>G	ENST00000374423.3	+	5	5406	c.5020C>G	c.(5020-5022)Cat>Gat	p.H1674D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1674							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGACACTTCTCATCGAACGAC	0.408																																						dbGAP											0													93.0	92.0	92.0					2																	207174272		1868	4099	5967	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5020C>G	2.37:g.207174272C>G	ENSP00000363545:p.His1674Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.H1674D	ENST00000374423.3	37	c.5020	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	C	8.925	0.961912	0.18583	.	.	ENSG00000204186	ENST00000374423	T	0.44083	0.93	3.84	1.99	0.26369	.	.	.	.	.	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	B	0.30326	0.276	B	0.17722	0.019	T	0.13953	-1.0490	9	0.66056	D	0.02	.	10.1731	0.42922	0.0:0.6045:0.3955:0.0	.	1674	Q9HCK1	ZDBF2_HUMAN	D	1674	ENSP00000363545:H1674D	ENSP00000363545:H1674D	H	+	1	0	ZDBF2	206882517	0.010000	0.17322	0.115000	0.21578	0.005000	0.04900	0.144000	0.16135	0.580000	0.29522	-0.176000	0.13171	CAT	ZDBF2	-	NULL	ENSG00000204186		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	24	0.00	0	C	NM_020923		207174272	207174272	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	41	33.87	21	SNP	0.130	G
ZNF106	64397	genome.wustl.edu	37	15	42710150	42710150	+	Splice_Site	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr15:42710150C>G	ENST00000263805.4	-	18	5775		c.e18-1		ZNF106_ENST00000565380.1_Splice_Site|ZNF106_ENST00000565611.1_Splice_Site	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106						insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AACCATGCCACTGGAGAGAAA	0.458																																						dbGAP											0													68.0	64.0	65.0					15																	42710150		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5449-1G>C	15.37:g.42710150C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Splice_Site	SNP	-	e18-1	ENST00000263805.4	37	c.5449-1	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467585	0.84533	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6894	0.91577	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFP106	40497442	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.304000	0.78882	2.644000	0.89710	0.563000	0.77884	.	ZFP106	-	-	ENSG00000103994		0.458	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	42	0.00	0	C	NM_022473	Intron	42710150	42710150	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	splice_site	48	18.64	11	SNP	1.000	G
ZFP14	57677	genome.wustl.edu	37	19	36831483	36831483	+	Missense_Mutation	SNP	C	C	G	rs545462128		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:36831483C>G	ENST00000270001.7	-	5	1360	c.1245G>C	c.(1243-1245)caG>caC	p.Q415H		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	415					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)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TATGAATGCTCTGGTGTGAAA	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		21493	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													105.0	98.0	100.0					19																	36831483		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1245G>C	19.37:g.36831483C>G	ENSP00000270001:p.Gln415His	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD23	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.Q415H	ENST00000270001.7	37	c.1245	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	c	13.42	2.232280	0.39498	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.36520	1.25	3.99	1.66	0.24008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.168455	0.28772	N	0.014194	T	0.39989	0.1099	L	0.43757	1.38	0.80722	D	1	D;B	0.71674	0.998;0.082	D;B	0.64237	0.923;0.067	T	0.31308	-0.9948	10	0.51188	T	0.08	.	2.7114	0.05175	0.2071:0.4789:0.0:0.314	.	415;415	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	H	415	ENSP00000270001:Q415H	ENSP00000270001:Q415H	Q	-	3	2	ZFP14	41523323	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.619000	0.24388	1.018000	0.39521	0.643000	0.83706	CAG	ZFP14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000142065		0.413	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	52	0.00	0	C	NM_020917		36831483	36831483	-1	no_errors	ENST00000270001	ensembl	human	known	69_37n	missense	74	15.56	14	SNP	0.999	G
ZFR	51663	genome.wustl.edu	37	5	32387785	32387785	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr5:32387785C>G	ENST00000265069.8	-	14	2471	c.2369G>C	c.(2368-2370)cGa>cCa	p.R790P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	790	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TACTCCCACTCGCAAAACTCC	0.353																																						dbGAP											0													69.0	69.0	69.0					5																	32387785		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2369G>C	5.37:g.32387785C>G	ENSP00000265069:p.Arg790Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.R790P	ENST00000265069.8	37	c.2369	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810948	0.50421	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.49432	0.78	5.71	5.71	0.89125	DZF (2);	0.110888	0.64402	D	0.000009	T	0.73281	0.3567	M	0.84156	2.68	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.76418	-0.2966	10	0.87932	D	0	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	790	Q96KR1	ZFR_HUMAN	P	790;768	ENSP00000265069:R790P	ENSP00000265069:R790P	R	-	2	0	ZFR	32423542	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	7.452000	0.80683	2.687000	0.91594	0.655000	0.94253	CGA	ZFR	-	pfam_DZF,smart_DZF	ENSG00000056097		0.353	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	27	0.00	0	C			32387785	32387785	-1	no_errors	ENST00000265069	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	1.000	G
ZKSCAN1	7586	genome.wustl.edu	37	7	99631175	99631175	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:99631175G>A	ENST00000324306.6	+	6	1281	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	ZKSCAN1_ENST00000426572.1_Silent_p.E313E|ZKSCAN1_ENST00000535170.1_Silent_p.E136E	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	349					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTCCAAGGGAGAAGGGGAAAG	0.473																																						dbGAP											0													70.0	76.0	74.0					7																	99631175		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1047G>A	7.37:g.99631175G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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.E349	ENST00000324306.6	37	c.1047	CCDS34698.1	7																																																																																			ZKSCAN1	-	NULL	ENSG00000106261		0.473	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	64	0.00	0	G	NM_003439		99631175	99631175	+1	no_errors	ENST00000324306	ensembl	human	known	69_37n	silent	79	27.27	30	SNP	0.941	A
ZNF175	7728	genome.wustl.edu	37	19	52091460	52091460	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:52091460C>A	ENST00000262259.2	+	5	2234	c.1876C>A	c.(1876-1878)Cag>Aag	p.Q626K	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	626					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGCTTTTGTCCAGAAATCAGA	0.423																																						dbGAP											0													119.0	127.0	124.0					19																	52091460		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1876C>A	19.37:g.52091460C>A	ENSP00000262259:p.Gln626Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H2	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.Q626K	ENST00000262259.2	37	c.1876	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	C	6.926	0.540538	0.13250	.	.	ENSG00000105497	ENST00000262259	T	0.35605	1.3	2.14	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22044	0.0531	N	0.25332	0.735	0.38754	D	0.954185	B	0.24043	0.096	B	0.17979	0.02	T	0.08126	-1.0737	9	0.32370	T	0.25	.	8.5522	0.33458	0.0:0.7588:0.2412:0.0	.	626	Q9Y473	ZN175_HUMAN	K	626	ENSP00000262259:Q626K	ENSP00000262259:Q626K	Q	+	1	0	ZNF175	56783272	0.000000	0.05858	0.663000	0.29738	0.787000	0.44495	-2.309000	0.01130	0.455000	0.26910	0.655000	0.94253	CAG	ZNF175	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105497		0.423	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	47	0.00	0	C	NM_007147		52091460	52091460	+1	no_errors	ENST00000262259	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	0.560	A
ZNF189	7743	genome.wustl.edu	37	9	104170663	104170663	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:104170663G>A	ENST00000339664.2	+	3	742	c.613G>A	c.(613-615)Gag>Aag	p.E205K	ZNF189_ENST00000374861.3_Missense_Mutation_p.E191K|ZNF189_ENST00000259395.4_Missense_Mutation_p.E163K	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	205					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAGGCCCTATGAGTGTAATTA	0.398																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.613G>A	9.37:g.104170663G>A	ENSP00000342019:p.Glu205Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	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.E205K	ENST00000339664.2	37	c.613	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	G	6.297	0.422833	0.11928	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.19250	2.16;2.16;2.16	4.79	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	T	0.11707	0.0285	N	0.03253	-0.375	0.35346	D	0.786948	B;B;B	0.32526	0.374;0.197;0.197	B;B;B	0.40534	0.241;0.22;0.332	T	0.07616	-1.0763	10	0.06236	T	0.91	.	16.1533	0.81636	0.0:0.0:1.0:0.0	.	190;191;205	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	K	191;205;163	ENSP00000363995:E191K;ENSP00000342019:E205K;ENSP00000259395:E163K	ENSP00000259395:E163K	E	+	1	0	ZNF189	103210484	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.444000	0.06854	2.941000	0.99782	0.655000	0.94253	GAG	ZNF189	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000136870		0.398	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	HGNC	protein_coding	OTTHUMT00000053447.1	37	0.00	0	G	NM_003452		104170663	104170663	+1	no_errors	ENST00000339664	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	1.000	A
ZNF192P1	651302	genome.wustl.edu	37	6	28134837	28134837	+	RNA	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr6:28134837G>C	ENST00000440790.2	+	0	940					NR_103448.1				zinc finger protein 192 pseudogene 1																		CTTTCAGTGTGAGCTCAGCCC	0.428																																						dbGAP											0													81.0	78.0	79.0					6																	28134837		692	1591	2283	-	-	-			0					6p22.1	2012-10-05	2011-08-31	2011-08-31	ENSG00000226314	ENSG00000226314			18777	pseudogene	pseudogene	"""zinc finger protein 389, pseudogene"""		"""zinc finger protein 389"""	ZNF389			Standard	NR_103448		Approved	dJ265C24.4, ZNF389P	uc021yrq.2		OTTHUMG00000014513		6.37:g.28134837G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000440790.2	37	NULL		6																																																																																			ZNF192P1	-	-	ENSG00000226314		0.428	ZNF192P1-001	KNOWN	basic	processed_transcript	ZNF192P1	HGNC	pseudogene	OTTHUMT00000040181.1	48	0.00	0	G			28134837	28134837	+1	no_errors	ENST00000440790	ensembl	human	known	69_37n	rna	41	32.79	20	SNP	0.001	C
ZNF212	7988	genome.wustl.edu	37	7	148947328	148947328	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:148947328C>G	ENST00000335870.2	+	2	231	c.103C>G	c.(103-105)Cag>Gag	p.Q35E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CTCCTATTTTCAGACCACCGA	0.532																																						dbGAP											0													61.0	64.0	63.0					7																	148947328		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.103C>G	7.37:g.148947328C>G	ENSP00000338572:p.Gln35Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q35E	ENST00000335870.2	37	c.103	CCDS5896.1	7	.	.	.	.	.	.	.	.	.	.	C	1.030	-0.682281	0.03353	.	.	ENSG00000170260	ENST00000335870	T	0.21191	2.02	5.31	3.47	0.39725	.	0.135452	0.34291	N	0.004090	T	0.10465	0.0256	N	0.25647	0.755	0.19775	N	0.999958	B	0.02656	0.0	B	0.04013	0.001	T	0.37244	-0.9714	10	0.02654	T	1	-8.1716	6.5749	0.22560	0.0:0.7203:0.1838:0.0959	.	35	Q9UDV6	ZN212_HUMAN	E	35	ENSP00000338572:Q35E	ENSP00000338572:Q35E	Q	+	1	0	ZNF212	148578261	0.081000	0.21417	0.642000	0.29436	0.968000	0.65278	2.152000	0.42272	1.225000	0.43566	0.563000	0.77884	CAG	ZNF212	-	pfam_DUF3669_Znf	ENSG00000170260		0.532	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF212	HGNC	protein_coding	OTTHUMT00000352710.1	37	0.00	0	C	NM_012256		148947328	148947328	+1	no_errors	ENST00000335870	ensembl	human	known	69_37n	missense	36	29.41	15	SNP	0.339	G
ZNF24	7572	genome.wustl.edu	37	18	32917214	32917214	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr18:32917214C>T	ENST00000261332.6	-	4	1268	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.L363L	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	363					myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCACAACATTCAGAAGTTTTT	0.323																																					Colon(42;769 913 8916 19469 46270)	dbGAP											0													62.0	65.0	64.0					18																	32917214		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.1089G>A	18.37:g.32917214C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L363	ENST00000261332.6	37	c.1089	CCDS11912.1	18																																																																																			ZNF24	-	NULL	ENSG00000172466		0.323	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF24	HGNC	protein_coding	OTTHUMT00000255769.1	24	0.00	0	C	NM_006965		32917214	32917214	-1	no_errors	ENST00000261332	ensembl	human	known	69_37n	silent	35	20.00	9	SNP	1.000	T
ZNF334	55713	genome.wustl.edu	37	20	45132914	45132914	+	Missense_Mutation	SNP	G	G	C	rs267605963		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr20:45132914G>C	ENST00000347606.4	-	4	362	c.180C>G	c.(178-180)ttC>ttG	p.F60L	ZNF334_ENST00000593880.1_Missense_Mutation_p.F83L|ZNF334_ENST00000457685.2_Missense_Mutation_p.F22L	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	60	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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCTCCAATTTGAAAATCACAT	0.398																																						dbGAP											0													115.0	94.0	101.0					20																	45132914		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.180C>G	20.37:g.45132914G>C	ENSP00000255129:p.Phe60Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6U2|Q9NVW4	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.F60L	ENST00000347606.4	37	c.180	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	G	2.952	-0.216508	0.06101	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.45276	5.78;0.9	3.14	1.01	0.19927	Krueppel-associated box (3);	.	.	.	.	T	0.23926	0.0579	L	0.31065	0.9	0.20563	N	0.999884	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.26326	-1.0106	9	0.13108	T	0.6	.	3.9848	0.09511	0.1248:0.0:0.447:0.4282	.	22;60;83	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	L	22;60	ENSP00000402582:F22L;ENSP00000255129:F60L	ENSP00000255129:F60L	F	-	3	2	ZNF334	44566321	0.000000	0.05858	0.908000	0.35775	0.932000	0.56968	-0.339000	0.07832	0.143000	0.18926	0.591000	0.81541	TTC	ZNF334	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198185		0.398	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	65	0.00	0	G			45132914	45132914	-1	no_errors	ENST00000347606	ensembl	human	known	69_37n	missense	116	12.78	17	SNP	0.479	C
ZNF384	171017	genome.wustl.edu	37	12	6782582	6782582	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr12:6782582G>A	ENST00000396801.3	-	7	918	c.711C>T	c.(709-711)ttC>ttT	p.F237F	ZNF384_ENST00000319770.3_Silent_p.F221F|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396799.2_Silent_p.F237F|ZNF384_ENST00000396795.1_Silent_p.F237F|ZNF384_ENST00000355772.4_Silent_p.F182F|ZNF384_ENST00000361959.3_Silent_p.F237F	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	237					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						ACTTGGAGTAGAATGTCAGTG	0.552			T	"""EWSR1, TAF15 """	ALL																																	dbGAP		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													191.0	121.0	145.0					12																	6782582		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.711C>T	12.37:g.6782582G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F237	ENST00000396801.3	37	c.711	CCDS44817.1	12																																																																																			ZNF384	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000126746		0.552	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	70	0.00	0	G			6782582	6782582	-1	no_errors	ENST00000361959	ensembl	human	known	69_37n	silent	47	37.33	28	SNP	1.000	A
ZNF385B	151126	genome.wustl.edu	37	2	180311286	180311286	+	Silent	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr2:180311286C>A	ENST00000410066.1	-	7	1485	c.882G>T	c.(880-882)gtG>gtT	p.V294V	ZNF385B_ENST00000336917.5_Silent_p.V192V|ZNF385B_ENST00000409343.1_Silent_p.V218V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.V192V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	294	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			ACAGGGAGTTCACAGCCACTT	0.398																																					Colon(155;204 2491 32774 51842)	dbGAP											0													100.0	99.0	99.0					2																	180311286		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.882G>T	2.37:g.180311286C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.V294	ENST00000410066.1	37	c.882	CCDS33339.1	2																																																																																			ZNF385B	-	smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000144331		0.398	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	HGNC	protein_coding	OTTHUMT00000335972.1	50	0.00	0	C	NM_152520		180311286	180311286	-1	no_errors	ENST00000410066	ensembl	human	known	69_37n	silent	62	40.95	43	SNP	1.000	A
ZNF394	84124	genome.wustl.edu	37	7	99097527	99097527	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr7:99097527G>C	ENST00000337673.6	-	1	393	c.190C>G	c.(190-192)Cga>Gga	p.R64G	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.R64G	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	64	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	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)					AAGTGCAGTCGAGAAGTTTCG	0.627																																					Ovarian(24;589 697 9939 12704 40742)	dbGAP											0													46.0	49.0	48.0					7																	99097527		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.190C>G	7.37:g.99097527G>C	ENSP00000337363:p.Arg64Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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.R64G	ENST00000337673.6	37	c.190	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015171	0.75161	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.07688	3.17;3.17	4.04	3.14	0.36123	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.194370	0.25827	N	0.028049	T	0.35508	0.0934	H	0.96208	3.785	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	T	0.28713	-1.0035	10	0.72032	D	0.01	.	7.1164	0.25418	0.1252:0.0:0.8748:0.0	.	64;64	Q05DA6;Q53GI3	.;ZN394_HUMAN	G	64	ENSP00000337363:R64G;ENSP00000409565:R64G	ENSP00000337363:R64G	R	-	1	2	ZNF394	98935463	0.017000	0.18338	0.016000	0.15963	0.488000	0.33401	1.651000	0.37302	1.256000	0.44068	0.561000	0.74099	CGA	ZNF394	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000160908		0.627	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	24	0.00	0	G	NM_032164		99097527	99097527	-1	no_errors	ENST00000337673	ensembl	human	known	69_37n	missense	20	39.39	13	SNP	0.060	C
ZNF395	55893	genome.wustl.edu	37	8	28207585	28207585	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr8:28207585G>C	ENST00000344423.5	-	8	1453	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C	ZNF395_ENST00000523095.1_Missense_Mutation_p.S441C|ZNF395_ENST00000523202.1_Missense_Mutation_p.S441C	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		ACTCACCGGAGAGAGAGAGCA	0.672																																						dbGAP											0													53.0	50.0	51.0					8																	28207585		2200	4300	6500	-	-	-	SO:0001583	missense	0			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1322C>G	8.37:g.28207585G>C	ENSP00000340494:p.Ser441Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.S441C	ENST00000344423.5	37	c.1322	CCDS6067.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104227	0.76983	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.52526	0.66;0.66;0.66	5.6	5.6	0.85130	.	0.451517	0.26400	N	0.024589	T	0.68412	0.2998	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.63192	0.912	T	0.72107	-0.4390	10	0.87932	D	0	-12.8362	17.113	0.86681	0.0:0.0:1.0:0.0	.	441	Q9H8N7	ZN395_HUMAN	C	441	ENSP00000340494:S441C;ENSP00000429640:S441C;ENSP00000428452:S441C	ENSP00000340494:S441C	S	-	2	0	ZNF395	28263504	1.000000	0.71417	0.983000	0.44433	0.803000	0.45373	5.935000	0.70145	2.640000	0.89533	0.655000	0.94253	TCT	ZNF395	-	NULL	ENSG00000186918		0.672	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1	25	0.00	0	G			28207585	28207585	-1	no_errors	ENST00000344423	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	C
ZNF441	126068	genome.wustl.edu	37	19	11891225	11891225	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:11891225C>T	ENST00000357901.4	+	4	688	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ZNF441_ENST00000454339.2_Missense_Mutation_p.R129C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGATGGACCTCGTATATGTAA	0.398																																						dbGAP											0													147.0	139.0	142.0					19																	11891225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.586C>T	19.37:g.11891225C>T	ENSP00000350576:p.Arg196Cys	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.R196C	ENST00000357901.4	37	c.586	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	c	5.030	0.191238	0.09547	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.14893	2.47;2.47	0.859	-0.235	0.13071	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04998	0.0134	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	9	0.66056	D	0.02	.	3.0451	0.06151	0.0:0.3062:0.0:0.6938	.	196	Q8N8Z8	ZN441_HUMAN	C	152;196;129	ENSP00000350576:R196C;ENSP00000403738:R129C	ENSP00000350576:R196C	R	+	1	0	ZNF441	11752225	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.022000	0.13511	-0.179000	0.10654	-0.979000	0.02580	CGT	ZNF441	-	pfscan_Znf_C2H2	ENSG00000197044		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	53	0.00	0	C	NM_152355		11891225	11891225	+1	no_errors	ENST00000357901	ensembl	human	known	69_37n	missense	38	47.22	34	SNP	0.000	T
ZNF417	147687	genome.wustl.edu	37	19	58423525	58423525	+	Silent	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:58423525C>A	ENST00000312026.5	-	2	230	c.66G>T	c.(64-66)gtG>gtT	p.V22V	CTD-2583A14.9_ENST00000602124.1_5'UTR|ZNF417_ENST00000536263.1_5'UTR|ZNF417_ENST00000595559.1_Silent_p.V21V	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	22	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)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		GGGAAAAGTTCACAGCCACAT	0.517																																						dbGAP											0													97.0	92.0	94.0					19																	58423525		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.66G>T	19.37:g.58423525C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEU1	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.V22	ENST00000312026.5	37	c.66	CCDS12965.1	19																																																																																			ZNF417	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000173480		0.517	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	119	0.00	0	C	NM_152475		58423525	58423525	-1	no_errors	ENST00000312026	ensembl	human	known	69_37n	silent	108	26.03	38	SNP	0.885	A
ZNF48	197407	genome.wustl.edu	37	16	30409375	30409375	+	Silent	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr16:30409375G>A	ENST00000320159.2	+	2	1180	c.804G>A	c.(802-804)ccG>ccA	p.P268P	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	268					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(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCCAGGGACCGAAGGCCCAGG	0.652																																						dbGAP											0													56.0	63.0	61.0					16																	30409375		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.804G>A	16.37:g.30409375G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P268	ENST00000320159.2	37	c.804	CCDS10679.1	16																																																																																			ZNF48	-	NULL	ENSG00000180035		0.652	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	37	0.00	0	G	NM_152652		30409375	30409375	+1	no_errors	ENST00000320159	ensembl	human	known	69_37n	silent	44	20.00	11	SNP	0.289	A
ZNF484	83744	genome.wustl.edu	37	9	95610506	95610506	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr9:95610506A>G	ENST00000375495.3	-	5	711	c.563T>C	c.(562-564)aTc>aCc	p.I188T	ZNF484_ENST00000395506.3_Missense_Mutation_p.I190T|ZNF484_ENST00000395505.2_Missense_Mutation_p.I152T|ZNF484_ENST00000332591.6_Missense_Mutation_p.I152T|ANKRD19P_ENST00000473204.1_RNA	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	188					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)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TAAGGTTATGATAGGCTCCAA	0.348																																						dbGAP											0													115.0	118.0	117.0					9																	95610506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.563T>C	9.37:g.95610506A>G	ENSP00000364645:p.Ile188Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AL89|B4DRI2	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.I190T	ENST00000375495.3	37	c.569	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.152555	0.00325	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.06218	3.33;3.46;3.48;3.33	2.94	1.8	0.24995	.	.	.	.	.	T	0.03651	0.0104	N	0.17474	0.49	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.47573	-0.9107	9	0.15499	T	0.54	.	6.4507	0.21902	0.8742:0.0:0.1258:0.0	.	190;188	B4DRI2;Q5JVG2	.;ZN484_HUMAN	T	152;190;188;152	ENSP00000378881:I152T;ENSP00000378882:I190T;ENSP00000364645:I188T;ENSP00000364646:I152T	ENSP00000364646:I152T	I	-	2	0	ZNF484	94650327	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.405000	0.21015	0.537000	0.28751	0.523000	0.50628	ATC	ZNF484	-	NULL	ENSG00000127081		0.348	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	52	0.00	0	A	XM_046861		95610506	95610506	-1	no_errors	ENST00000395506	ensembl	human	known	69_37n	missense	98	24.62	32	SNP	0.002	G
ZNF518B	85460	genome.wustl.edu	37	4	10447058	10447058	+	Missense_Mutation	SNP	C	C	T	rs150071629		TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:10447058C>T	ENST00000326756.3	-	3	1333	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	299					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(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCATTTGGCTCAGACAGGGTC	0.368																																						dbGAP											0													161.0	159.0	159.0					4																	10447058		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.895G>A	4.37:g.10447058C>T	ENSP00000317614:p.Glu299Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E299K	ENST00000326756.3	37	c.895	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526733	0.85706	.	.	ENSG00000178163	ENST00000326756	T	0.01767	4.65	5.95	5.95	0.96441	.	0.381500	0.21816	N	0.068692	T	0.06371	0.0164	L	0.56769	1.78	0.36316	D	0.85793	D	0.58268	0.982	P	0.53760	0.734	T	0.11916	-1.0568	10	0.54805	T	0.06	-19.3221	17.5491	0.87871	0.0:1.0:0.0:0.0	.	299	Q9C0D4	Z518B_HUMAN	K	299	ENSP00000317614:E299K	ENSP00000317614:E299K	E	-	1	0	ZNF518B	10056156	0.936000	0.31750	0.943000	0.38184	0.827000	0.46813	2.434000	0.44802	2.824000	0.97209	0.655000	0.94253	GAG	ZNF518B	-	NULL	ENSG00000178163		0.368	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	49	0.00	0	C	NM_053042		10447058	10447058	-1	no_errors	ENST00000326756	ensembl	human	known	69_37n	missense	73	35.40	40	SNP	0.994	T
ZNF546	339327	genome.wustl.edu	37	19	40521059	40521059	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:40521059C>T	ENST00000347077.4	+	7	2098	c.1882C>T	c.(1882-1884)Cac>Tac	p.H628Y	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.H602Y	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	628					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)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TACTCAGCATCACAGAATTCA	0.363																																						dbGAP											0													46.0	49.0	48.0					19																	40521059		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1882C>T	19.37:g.40521059C>T	ENSP00000339823:p.His628Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K913	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.H628Y	ENST00000347077.4	37	c.1882	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	c	13.92	2.380231	0.42207	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.07216	3.21	2.91	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	N	0.11131	0.1	0.23204	N	0.998129	B	0.18863	0.031	B	0.16722	0.016	T	0.37103	-0.9720	9	0.87932	D	0	.	8.3166	0.32104	0.0:0.8742:0.0:0.1258	.	628	Q86UE3	ZN546_HUMAN	Y	628;237	ENSP00000339823:H628Y	ENSP00000339823:H628Y	H	+	1	0	ZNF546	45212899	0.014000	0.17966	1.000000	0.80357	0.987000	0.75469	1.534000	0.36051	0.775000	0.33450	0.591000	0.81541	CAC	ZNF546	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187187		0.363	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	29	0.00	0	C	NM_178544		40521059	40521059	+1	no_errors	ENST00000347077	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	T
ZNF583	147949	genome.wustl.edu	37	19	56935300	56935300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:56935300C>T	ENST00000333201.9	+	5	1483	c.1273C>T	c.(1273-1275)Caa>Taa	p.Q425*	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Nonsense_Mutation_p.Q425*	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	425					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ATACCTTGATCAACATCAGAG	0.403																																						dbGAP											0													60.0	61.0	61.0					19																	56935300		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1273C>T	19.37:g.56935300C>T	ENSP00000388502:p.Gln425*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14850|Q2NKK3	Nonsense_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.Q425*	ENST00000333201.9	37	c.1273	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.371321	0.95923	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	.	.	.	4.72	-0.153	0.13403	.	0.000000	0.41605	D	0.000853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1401	0.06452	0.1341:0.3189:0.3922:0.1548	.	.	.	.	X	425	.	.	Q	+	1	0	ZNF583	61627112	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	-3.535000	0.00439	0.016000	0.14998	0.563000	0.77884	CAA	ZNF583	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198440		0.403	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	35	0.00	0	C	NM_152478		56935300	56935300	+1	no_errors	ENST00000291598	ensembl	human	known	69_37n	nonsense	32	47.62	30	SNP	0.001	T
ZNF595	152687	genome.wustl.edu	37	4	86571	86571	+	3'UTR	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr4:86571G>C	ENST00000339368.6	+	0	1380							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TCATACTGGAGAGAAACCCTA	0.383																																						dbGAP											0													45.0	50.0	49.0					4																	86571		2127	4258	6385	-	-	-	SO:0001624	3_prime_UTR_variant	0			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1377G>C	4.37:g.86571G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-	ENSG00000197701		0.383	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	28	0.00	0	G	NM_182524		86571	86571	+1	no_errors	ENST00000339368	ensembl	human	known	69_37n	rna	30	42.31	22	SNP	1.000	C
ZNF613	79898	genome.wustl.edu	37	19	52447977	52447978	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:52447977_52447978insAC	ENST00000293471.6	+	6	1520_1521	c.841_842insAC	c.(841-843)attfs	p.I281fs	ZNF613_ENST00000391794.4_Frame_Shift_Ins_p.I245fs	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	281					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(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACACCAGAAAATTCATACAGGA	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		Exception_encountered	19.37:g.52447977_52447978insAC	ENSP00000293471:p.Ile281fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96SS9	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.I281fs	ENST00000293471.6	37	c.841_842	CCDS33089.1	19																																																																																			ZNF613	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176024		0.421	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	39	0.00	0	-	NM_024840		52447977	52447978	+1	no_errors	ENST00000293471	ensembl	human	known	69_37n	frame_shift_ins	39	15.22	7	INS	0.614:0.553	AC
ZFP69B	65243	genome.wustl.edu	37	1	40929184	40929184	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr1:40929184A>G	ENST00000411995.2	+	6	1903	c.1528A>G	c.(1528-1530)Aaa>Gaa	p.K510E	RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.K408E	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	510					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)										TGAGTGTGGAAAAGCCTTCAG	0.358																																						dbGAP											0													56.0	57.0	57.0					1																	40929184		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1528A>G	1.37:g.40929184A>G	ENSP00000399664:p.Lys510Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QPL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.K510E	ENST00000411995.2	37	c.1528	CCDS452.2	1	.	.	.	.	.	.	.	.	.	.	.	18.88	3.716592	0.68844	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.27104	1.69;1.69	3.33	3.33	0.38152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43634	0.1256	L	0.55103	1.725	0.24118	N	0.995817	D	0.89917	1.0	D	0.81914	0.995	T	0.11470	-1.0586	9	0.72032	D	0.01	.	10.3094	0.43699	1.0:0.0:0.0:0.0	.	510	Q9UJL9	ZN643_HUMAN	E	441;510;408	ENSP00000399664:K510E;ENSP00000354547:K408E	ENSP00000354547:K408E	K	+	1	0	ZNF643	40701771	.	.	1.000000	0.80357	0.998000	0.95712	.	.	1.752000	0.51891	0.533000	0.62120	AAA	ZNF643	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187801		0.358	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF643	HGNC	protein_coding	OTTHUMT00000019078.2	16	0.00	0	A	NM_023070		40929184	40929184	+1	no_errors	ENST00000411995	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	G
ZNF729	100287226	genome.wustl.edu	37	19	22486597	22486597	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:22486597C>G	ENST00000601693.1	+	2	186	c.68C>G	c.(67-69)tCt>tGt	p.S23C	ZNF729_ENST00000357491.6_Missense_Mutation_p.S23C			A6NN14	ZN729_HUMAN	zinc finger protein 729	23	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)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						ATAGAATTCTCTCTGGAGGAG	0.418																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.68C>G	19.37:g.22486597C>G	ENSP00000469582:p.Ser23Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	M0QY45	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.S23C	ENST00000601693.1	37	c.68	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	9.134	1.012095	0.19277	.	.	ENSG00000196350	ENST00000357491	T	0.02944	4.1	1.16	1.16	0.20824	.	.	.	.	.	T	0.17323	0.0416	H	0.97540	4.025	.	.	.	.	.	.	.	.	.	T	0.10382	-1.0632	6	0.87932	D	0	.	5.6142	0.17422	0.0:1.0:0.0:0.0	.	.	.	.	C	23	ENSP00000350085:S23C	ENSP00000350085:S23C	S	+	2	0	ZNF729	22278437	0.017000	0.18338	0.007000	0.13788	0.128000	0.20619	0.404000	0.20999	0.578000	0.29487	0.423000	0.28283	TCT	ZNF729	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196350		0.418	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	88	0.00	0	C	XM_496301		22486597	22486597	+1	no_stop_codon	ENST00000357491	ensembl	human	known	69_37n	missense	49	44.94	40	SNP	0.020	G
ZNF730	100129543	genome.wustl.edu	37	19	23318788	23318788	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:23318788G>A	ENST00000597761.2	+	3	368	c.169G>A	c.(169-171)Gag>Aag	p.E57K	ZNF730_ENST00000593635.1_Missense_Mutation_p.E25K	NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	57	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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CACCTGTCTGGAGCAAGAAAA	0.383																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.169G>A	19.37:g.23318788G>A	ENSP00000472959:p.Glu57Lys	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.E57K	ENST00000597761.2	37	c.169	CCDS59371.1	19	.	.	.	.	.	.	.	.	.	.	G	8.323	0.824743	0.16678	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.47	-0.941	0.10402	.	.	.	.	.	T	0.52917	0.1764	M	0.80508	2.5	0.09310	N	1	.	.	.	.	.	.	T	0.51260	-0.8728	5	0.56958	D	0.05	.	.	.	.	.	.	.	.	K	57	.	ENSP00000329365:E57K	E	+	1	0	ZNF730	23110628	0.410000	0.25376	0.002000	0.10522	0.054000	0.15201	0.559000	0.23485	-0.480000	0.06803	0.306000	0.20318	GAG	ZNF730	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000183850		0.383	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	40	0.00	0	G	XM_001719792		23318788	23318788	+1	no_errors	ENST00000327867	ensembl	human	known	69_37n	missense	58	36.26	33	SNP	0.002	A
ZNF75D	7626	genome.wustl.edu	37	X	134427658	134427658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chrX:134427658C>A	ENST00000370766.3	-	3	3118	c.409G>T	c.(409-411)Gag>Tag	p.E137*	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Nonsense_Mutation_p.E137*	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	137					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)	p.E137K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTCTTACCTCATTCTTTGTT	0.438																																						dbGAP											1	Substitution - Missense(1)	lung(1)											89.0	90.0	89.0					X																	134427658		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.409G>T	X.37:g.134427658C>A	ENSP00000359802:p.Glu137*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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.E137*	ENST00000370766.3	37	c.409	CCDS14648.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.627266	0.96671	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	.	.	.	2.98	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	7.5806	0.27963	0.0:0.8611:0.0:0.1389	.	.	.	.	X	137	.	ENSP00000359800:E137X	E	-	1	0	ZNF75D	134255324	0.956000	0.32656	0.023000	0.16930	0.109000	0.19521	0.201000	0.17276	0.670000	0.31165	0.509000	0.49947	GAG	ZNF75D	-	pfam_Tscrpt_reg_SCAN,smart_Tscrpt_reg_SCAN	ENSG00000186376		0.438	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	HGNC	protein_coding	OTTHUMT00000058415.1	16	0.00	0	C	NM_007131		134427658	134427658	-1	no_errors	ENST00000370766	ensembl	human	known	69_37n	nonsense	33	28.26	13	SNP	0.019	A
ZNF816	125893	genome.wustl.edu	37	19	53453791	53453791	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:53453791C>G	ENST00000357666.4	-	5	1537	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	ZNF816_ENST00000444460.2_Missense_Mutation_p.E413Q|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	413					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						CTATGTCTTTCAAGGTGTGAT	0.393																																						dbGAP											0													113.0	114.0	114.0					19																	53453791		2203	4300	6503	-	-	-	SO:0001583	missense	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.1237G>C	19.37:g.53453791C>G	ENSP00000350295:p.Glu413Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H5|Q3KR39|Q659B3	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.E413Q	ENST00000357666.4	37	c.1237	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	6.849	0.525872	0.13066	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.17528	2.27;2.27	1.79	-0.624	0.11552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	N	0.01656	-0.775	0.09310	N	1	D	0.71674	0.998	D	0.76071	0.987	T	0.24368	-1.0162	9	0.48119	T	0.1	.	6.017	0.19608	0.0:0.3192:0.0:0.6808	.	413	Q0VGE8	ZN816_HUMAN	Q	413	ENSP00000350295:E413Q;ENSP00000403266:E413Q	ENSP00000350295:E413Q	E	-	1	0	ZNF816	58145603	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.895000	0.04118	-0.019000	0.14055	0.205000	0.17691	GAA	ZNF816	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180257		0.393	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	59	0.00	0	C	NM_001031665		53453791	53453791	-1	no_errors	ENST00000357666	ensembl	human	known	69_37n	missense	65	26.14	23	SNP	0.000	G
ZNF816	125893	genome.wustl.edu	37	19	53459288	53459288	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:53459288G>C	ENST00000357666.4	-	3	355	c.55C>G	c.(55-57)Ctt>Gtt	p.L19V	CTD-2620I22.1_ENST00000600068.1_RNA|ZNF816_ENST00000444460.2_Missense_Mutation_p.L19V|ZNF816_ENST00000391786.2_Missense_Mutation_p.L19V|ZNF816_ENST00000535506.1_Missense_Mutation_p.L19V|ZNF816_ENST00000438970.2_Missense_Mutation_p.L19V|ZNF321P_ENST00000391777.3_Missense_Mutation_p.L19V|ZNF816_ENST00000434371.2_Missense_Mutation_p.L19V|ZNF816_ENST00000270457.4_Missense_Mutation_p.L19V	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	19					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						ACCTGAGGAAGAGCCATCCCT	0.413																																						dbGAP											0													116.0	110.0	112.0					19																	53459288		2203	4300	6503	-	-	-	SO:0001583	missense	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.55C>G	19.37:g.53459288G>C	ENSP00000350295:p.Leu19Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H5|Q3KR39|Q659B3	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.L19V	ENST00000357666.4	37	c.55	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	g	7.218	0.596724	0.13875	.	.	ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000434371;ENST00000357666;ENST00000444460;ENST00000457013;ENST00000332302;ENST00000391777	T;T;T;T;T	0.00816	5.66;5.66;5.66;5.66;5.66	1.39	-1.53	0.08611	Krueppel-associated box (1);	.	.	.	.	T	0.00815	0.0027	L	0.33710	1.025	0.80722	D	1	P	0.51057	0.941	B	0.40565	0.333	T	0.71935	-0.4442	9	0.44086	T	0.13	.	6.7377	0.23419	0.0:0.5897:0.4103:0.0	.	19	Q0VGE8	ZN816_HUMAN	V	19	ENSP00000438519:L19V;ENSP00000350295:L19V;ENSP00000403266:L19V;ENSP00000408965:L19V;ENSP00000375656:L19V	ENSP00000375656:L19V	L	-	1	0	ZNF321P;ZNF816	58151100	0.000000	0.05858	0.004000	0.12327	0.092000	0.18411	-1.255000	0.02872	-0.322000	0.08615	0.298000	0.19748	CTT	ZNF816	-	superfamily_Krueppel-associated_box	ENSG00000180257		0.413	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	54	0.00	0	G	NM_001031665		53459288	53459288	-1	no_errors	ENST00000357666	ensembl	human	known	69_37n	missense	58	23.68	18	SNP	0.008	C
ZNF776	284309	genome.wustl.edu	37	19	58265822	58265822	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr19:58265822C>A	ENST00000317178.5	+	3	1587	c.1324C>A	c.(1324-1326)Cat>Aat	p.H442N	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	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)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GAAATGTTTTCATCAAAAGGG	0.433																																						dbGAP											0													136.0	125.0	128.0					19																	58265822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1324C>A	19.37:g.58265822C>A	ENSP00000321812:p.His442Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZS36|Q8N968	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.H442N	ENST00000317178.5	37	c.1324	CCDS12962.2	19	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371170	0.24771	.	.	ENSG00000152443	ENST00000317178	T	0.07327	3.2	1.86	-3.72	0.04411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02848	0.0085	N	0.04705	-0.18	0.09310	N	1	B;B	0.32010	0.079;0.351	B;B	0.30716	0.016;0.119	T	0.35895	-0.9770	9	0.33940	T	0.23	.	1.0246	0.01525	0.2239:0.3685:0.2384:0.1693	.	442;442	Q68DI1;B4DSC6	ZN776_HUMAN;.	N	442	ENSP00000321812:H442N	ENSP00000321812:H442N	H	+	1	0	ZNF776	62957634	0.000000	0.05858	0.000000	0.03702	0.854000	0.48673	-0.817000	0.04472	-1.579000	0.01646	0.313000	0.20887	CAT	ZNF776	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152443		0.433	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	HGNC	protein_coding	OTTHUMT00000346722.2	56	0.00	0	C	NM_173632		58265822	58265822	+1	no_errors	ENST00000317178	ensembl	human	known	69_37n	missense	84	14.29	14	SNP	0.000	A
ZP1	22917	genome.wustl.edu	37	11	60637153	60637153	+	Silent	SNP	C	C	T			TCGA-C8-A26Y-01A-11D-A16D-09	TCGA-C8-A26Y-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b1c77e8b-cc4a-40aa-b858-5928aa761aa3	4a97d15d-98ec-4107-bfa4-21be8b5fba25	g.chr11:60637153C>T	ENST00000278853.5	+	3	462	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	154					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCGCCATGTTCTCTGTCTCAA	0.607																																						dbGAP											0													120.0	128.0	125.0					11																	60637153		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.462C>T	11.37:g.60637153C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.F154	ENST00000278853.5	37	c.462	CCDS31572.1	11																																																																																			ZP1	-	NULL	ENSG00000149506		0.607	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	HGNC	protein_coding	OTTHUMT00000396329.1	63	0.00	0	C	NM_207341		60637153	60637153	+1	no_errors	ENST00000278853	ensembl	human	known	69_37n	silent	37	48.61	35	SNP	0.000	T
