#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
ABCA13	154664	genome.wustl.edu	37	7	48319443	48319443	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:48319443C>G	ENST00000435803.1	+	18	8676	c.8652C>G	c.(8650-8652)ttC>ttG	p.F2884L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2884					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACCATTTTTCTGTTTGGAGA	0.338																																						dbGAP											0													64.0	67.0	66.0					7																	48319443		1800	4069	5869	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8652C>G	7.37:g.48319443C>G	ENSP00000411096:p.Phe2884Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F2884L	ENST00000435803.1	37	c.8652	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681779	0.29872	.	.	ENSG00000179869	ENST00000435803	T	0.50548	0.74	5.29	-3.09	0.05331	.	0.378699	0.19378	N	0.115734	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.05402	-1.0887	10	0.62326	D	0.03	.	1.2606	0.02001	0.3071:0.2959:0.264:0.133	.	2884	Q86UQ4	ABCAD_HUMAN	L	2884	ENSP00000411096:F2884L	ENSP00000411096:F2884L	F	+	3	2	ABCA13	48289989	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.281000	0.08456	-0.896000	0.03915	-1.149000	0.01842	TTC	ABCA13	-	NULL	ENSG00000179869		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	158	0.00	0	C	NM_152701		48319443	48319443	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	107	25.00	36	SNP	0.000	G
ABCB4	5244	genome.wustl.edu	37	7	87069530	87069530	+	Silent	SNP	G	G	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:87069530G>T	ENST00000265723.4	-	13	1656	c.1545C>A	c.(1543-1545)atC>atA	p.I515I	ABCB4_ENST00000453593.1_Silent_p.I515I|ABCB4_ENST00000545634.1_Silent_p.I515I|ABCB4_ENST00000358400.3_Silent_p.I515I|ABCB4_ENST00000359206.3_Silent_p.I515I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	515	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTAATTTCATGATAAACTCAT	0.363																																						dbGAP											0													82.0	80.0	81.0					7																	87069530		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1545C>A	7.37:g.87069530G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.I515	ENST00000265723.4	37	c.1545	CCDS5606.1	7																																																																																			ABCB4	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000005471		0.363	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	125	0.00	0	G	NM_000443		87069530	87069530	-1	no_errors	ENST00000265723	ensembl	human	known	69_37n	silent	83	25.23	28	SNP	1.000	T
ADCY9	115	genome.wustl.edu	37	16	4164421	4164421	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr16:4164421G>A	ENST00000294016.3	-	2	1561	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	341					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CATCGGCTATGATTCTTGGCA	0.493																																						dbGAP											0													165.0	156.0	159.0					16																	4164421		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1023C>T	16.37:g.4164421G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I341	ENST00000294016.3	37	c.1023	CCDS32382.1	16																																																																																			ADCY9	-	smart_A/G_cyclase	ENSG00000162104		0.493	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	89	0.00	0	G			4164421	4164421	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	silent	41	19.61	10	SNP	1.000	A
ADNP	23394	genome.wustl.edu	37	20	49510210	49510210	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr20:49510210C>T	ENST00000396029.3	-	5	1608	c.1041G>A	c.(1039-1041)atG>atA	p.M347I	ADNP_ENST00000396032.3_Missense_Mutation_p.M347I|ADNP_ENST00000371602.4_Missense_Mutation_p.M347I|ADNP_ENST00000349014.3_Missense_Mutation_p.M347I	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	347					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GACCCAGTCTCATTGACTGAC	0.458																																						dbGAP											0													145.0	131.0	135.0					20																	49510210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1041G>A	20.37:g.49510210C>T	ENSP00000379346:p.Met347Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.M347I	ENST00000396029.3	37	c.1041	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573055	0.28092	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.06	5.11	0.69529	.	0.243252	0.48286	D	0.000195	T	0.23572	0.0570	N	0.08118	0	0.26790	N	0.969416	B	0.02656	0.0	B	0.01281	0.0	T	0.08617	-1.0713	9	0.30078	T	0.28	-10.704	12.9512	0.58401	0.0:0.8731:0.0:0.1269	.	347	Q9H2P0	ADNP_HUMAN	I	347	.	ENSP00000342905:M347I	M	-	3	0	ADNP	48943617	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.708000	0.37899	2.882000	0.98803	0.655000	0.94253	ATG	ADNP	-	NULL	ENSG00000101126		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	154	0.00	0	C	NM_181442		49510210	49510210	-1	no_errors	ENST00000349014	ensembl	human	known	69_37n	missense	121	25.31	41	SNP	1.000	T
ADRA2B	151	genome.wustl.edu	37	2	96781473	96781474	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:96781473_96781474insC	ENST00000409345.3	-	1	510_511	c.415_416insG	c.(415-417)atcfs	p.I139fs		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	139					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GACGGCGGCGATGAGCCACACA	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.415_416insG	2.37:g.96781473_96781474insC	ENSP00000387281:p.Ile139fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4TUH9|Q53RF2|Q9BZK0	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2B,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.I139fs	ENST00000409345.3	37	c.416_415	CCDS56129.1	2																																																																																			ADRA2B	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000222040		0.683	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2B	HGNC	protein_coding	OTTHUMT00000334990.1	21	0.00	0	-			96781473	96781474	-1	no_errors	ENST00000409345	ensembl	human	known	69_37n	frame_shift_ins	2	50.00	2	INS	1.000:1.000	C
ADRBK1	156	genome.wustl.edu	37	11	67051773	67051774	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr11:67051773_67051774insG	ENST00000308595.5	+	18	1873_1874	c.1583_1584insG	c.(1582-1587)accatcfs	p.I529fs	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	529					activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GTCTTCGACACCATCAACGCTG	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	Exception_encountered	11.37:g.67051773_67051774insG	ENSP00000312262:p.Ile529fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.I529fs	ENST00000308595.5	37	c.1583_1584	CCDS8156.1	11																																																																																			ADRBK1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000173020		0.604	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1	22	0.00	0	-	NM_001619		67051773	67051774	+1	no_errors	ENST00000308595	ensembl	human	known	69_37n	frame_shift_ins	5	44.44	4	INS	1.000:1.000	G
AGTPBP1	23287	genome.wustl.edu	37	9	88233910	88233910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:88233910G>A	ENST00000357081.3	-	17	2467	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.Q787*|AGTPBP1_ENST00000432218.1_Nonsense_Mutation_p.Q613*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.Q735*|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	775					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TAATTAAACTGACTGTTGGAC	0.343																																						dbGAP											0													91.0	91.0	91.0					9																	88233910		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2323C>T	9.37:g.88233910G>A	ENSP00000349592:p.Gln775*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Nonsense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.Q787*	ENST00000357081.3	37	c.2359		9	.	.	.	.	.	.	.	.	.	.	G	41	8.800635	0.98958	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	.	.	.	5.08	4.18	0.49190	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.0053	13.3526	0.60611	0.0777:0.0:0.9223:0.0	.	.	.	.	X	775;735;787;613	.	ENSP00000349592:Q775X	Q	-	1	0	AGTPBP1	87423730	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.556000	0.98127	1.276000	0.44395	0.650000	0.86243	CAG	AGTPBP1	-	NULL	ENSG00000135049		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	112	0.00	0	G	NM_015239		88233910	88233910	-1	no_errors	ENST00000376109	ensembl	human	known	69_37n	nonsense	114	17.73	25	SNP	1.000	A
AKAP13	11214	genome.wustl.edu	37	15	86123811	86123811	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr15:86123811C>T	ENST00000394518.2	+	7	2607	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	AKAP13_ENST00000361243.2_Missense_Mutation_p.R838W|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	838					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCCTGATACGCGGCCACTAGA	0.522																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													87.0	92.0	91.0					15																	86123811		2202	4299	6501	-	-	-	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2512C>T	15.37:g.86123811C>T	ENSP00000378026:p.Arg838Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R838W	ENST00000394518.2	37	c.2512	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633983	0.29068	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.12147	2.71;2.71	4.42	2.4	0.29515	.	.	.	.	.	T	0.06645	0.0170	N	0.08118	0	0.09310	N	0.999994	B;B	0.30068	0.267;0.148	B;B	0.14023	0.004;0.01	T	0.30621	-0.9972	9	0.72032	D	0.01	.	8.9732	0.35919	0.4043:0.5957:0.0:0.0	.	838;838	Q12802;Q12802-2	AKP13_HUMAN;.	W	838;838;837;837	ENSP00000354718:R838W;ENSP00000378026:R838W	ENSP00000354718:R838W	R	+	1	2	AKAP13	83924815	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.663000	0.25053	0.410000	0.25675	0.655000	0.94253	CGG	AKAP13	-	NULL	ENSG00000170776		0.522	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	287	0.00	0	C	NM_007200		86123811	86123811	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	missense	145	22.34	42	SNP	0.000	T
ALDH1L1	10840	genome.wustl.edu	37	3	125855665	125855666	+	Frame_Shift_Ins	INS	-	-	C	rs9282691	byFrequency	TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr3:125855665_125855666insC	ENST00000393434.2	-	11	1634_1635	c.1285_1286insG	c.(1285-1287)gagfs	p.E429fs	ALDH1L1_ENST00000273450.3_Frame_Shift_Ins_p.E439fs|ALDH1L1_ENST00000393431.2_Frame_Shift_Ins_p.E429fs|ALDH1L1_ENST00000452905.2_Frame_Shift_Ins_p.E328fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Ins_p.E429fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	429	Aldehyde dehydrogenase.		E -> A (in dbSNP:rs9282691).		10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATCCACGAACTCCCCCCCAATG	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1286dupG	3.37:g.125855672_125855672dupC	ENSP00000377083:p.Glu429fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG36|E9PBX3|Q68CS1	Frame_Shift_Ins	INS	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.E429fs	ENST00000393434.2	37	c.1286_1285	CCDS3034.1	3																																																																																			ALDH1L1	-	superfamily_Ald_DH/histidinol_DH,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH	ENSG00000144908		0.589	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	18	0.00	0	-	NM_012190		125855665	125855666	-1	no_errors	ENST00000393434	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	0.000:0.000	C
PCED1B	91523	genome.wustl.edu	37	12	47471790	47471790	+	5'Flank	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr12:47471790C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Silent_p.E332E|AMIGO2_ENST00000429635.1_Silent_p.E332E|AMIGO2_ENST00000321382.3_Silent_p.E332E|AMIGO2_ENST00000266581.4_Silent_p.E332E			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										CTTTATCCGGCTCTAGCAGTC	0.458																																						dbGAP											0													142.0	146.0	145.0					12																	47471790		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471790C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96B20	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like	p.E332	ENST00000546455.1	37	c.996	CCDS8752.1	12																																																																																			AMIGO2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000139211		0.458	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO2	HGNC	protein_coding	OTTHUMT00000405079.1	239	0.00	0	C	NM_138371		47471790	47471790	-1	no_errors	ENST00000266581	ensembl	human	known	69_37n	silent	192	12.33	27	SNP	1.000	T
AP1G1	164	genome.wustl.edu	37	16	71799443	71799443	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr16:71799443G>A	ENST00000299980.4	-	7	1128	c.687C>T	c.(685-687)tcC>tcT	p.S229S	AP1G1_ENST00000433195.2_Silent_p.S252S|AP1G1_ENST00000569748.1_Silent_p.S229S|AP1G1_ENST00000423132.2_Silent_p.S232S|AP1G1_ENST00000393512.3_Silent_p.S232S	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	229					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GTGAATATCCGGACATGATGA	0.348																																						dbGAP											0													72.0	71.0	71.0					16																	71799443		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.687C>T	16.37:g.71799443G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold	p.R231W	ENST00000299980.4	37	c.691	CCDS32480.1	16																																																																																			AP1G1	-	NULL	ENSG00000166747		0.348	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1	151	0.00	0	G			71799443	71799443	-1	no_errors	ENST00000568327	ensembl	human	known	69_37n	missense	112	14.50	19	SNP	0.997	A
ARHGAP9	64333	genome.wustl.edu	37	12	57871356	57871356	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr12:57871356C>G	ENST00000356411.2	-	4	780	c.642G>C	c.(640-642)caG>caC	p.Q214H	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.Q214H|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.Q214H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.Q30H|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.Q285H|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.Q293H			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	214	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CATCCAGCCTCTGCAGCAGGG	0.647																																						dbGAP											0													34.0	40.0	38.0					12																	57871356		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.642G>C	12.37:g.57871356C>G	ENSP00000348782:p.Gln214His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.Q214H	ENST00000356411.2	37	c.642		12	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220787	0.39201	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066;ENST00000549602;ENST00000552249	T;T;T;T;T;T;T;T;T;T;T	0.52754	3.0;2.99;1.64;2.95;2.91;0.98;0.98;0.98;0.98;0.98;0.65	3.66	1.79	0.24919	.	0.496337	0.20618	N	0.088838	T	0.43077	0.1231	N	0.12746	0.255	0.28303	N	0.92304	D;D;D;D;B;D	0.76494	0.999;0.995;0.996;0.997;0.053;0.995	D;D;D;D;B;D	0.81914	0.994;0.99;0.986;0.995;0.031;0.99	T	0.22800	-1.0206	10	0.37606	T	0.19	.	6.2444	0.20810	0.0:0.7667:0.0:0.2333	.	214;293;214;214;214;30	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	H	214;214;214;285;263;30;30;30;67;30;30;132	ENSP00000377380:Q214H;ENSP00000348782:Q214H;ENSP00000394307:Q214H;ENSP00000377386:Q285H;ENSP00000397950:Q30H;ENSP00000449829:Q30H;ENSP00000450256:Q30H;ENSP00000446932:Q67H;ENSP00000448424:Q30H;ENSP00000450223:Q30H;ENSP00000448358:Q132H	ENSP00000344852:Q263H	Q	-	3	2	ARHGAP9	56157623	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	1.151000	0.31651	0.512000	0.28257	0.655000	0.94253	CAG	ARHGAP9	-	NULL	ENSG00000123329		0.647	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		52	0.00	0	C	NM_032496		57871356	57871356	-1	no_errors	ENST00000356411	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	1.000	G
ARID4B	51742	genome.wustl.edu	37	1	235345181	235345181	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:235345181G>C	ENST00000264183.3	-	20	3550	c.3053C>G	c.(3052-3054)tCa>tGa	p.S1018*	ARID4B_ENST00000349213.3_Nonsense_Mutation_p.S932*|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.S1018*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1018					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTTAGCACTGAATTACTGCC	0.438																																						dbGAP											0													113.0	114.0	113.0					1																	235345181		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3053C>G	1.37:g.235345181G>C	ENSP00000264183:p.Ser1018*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_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,pfscan_ARID/BRIGHT_DNA-bd	p.S1018*	ENST00000264183.3	37	c.3053	CCDS31061.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.163493|6.163493	0.97338|0.97338	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|.	.|.	.|.	5.18|5.18	4.27|4.27	0.50696|0.50696	.|.	.|0.308268	.|0.33127	.|N	.|0.005257	T|.	0.67069|.	0.2854|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.76127|.	-0.3073|.	3|.	.|0.49607	.|T	.|0.09	-8.4076|-8.4076	13.6688|13.6688	0.62412|0.62412	0.0741:0.0:0.9259:0.0|0.0741:0.0:0.9259:0.0	.|.	.|.	.|.	.|.	E|X	418|1018;932;1018;1018	.|.	.|ENSP00000264183:S1018X	Q|S	-|-	1|2	0|0	ARID4B|ARID4B	233411804|233411804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.956000|8.956000	0.93066|0.93066	1.413000|1.413000	0.46997|0.46997	0.585000|0.585000	0.79938|0.79938	CAG|TCA	ARID4B	-	NULL	ENSG00000054267		0.438	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	286	0.00	0	G	NM_016374		235345181	235345181	-1	no_errors	ENST00000264183	ensembl	human	known	69_37n	nonsense	202	23.68	63	SNP	1.000	C
B4GALT7	11285	genome.wustl.edu	37	5	177031459	177031459	+	Silent	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr5:177031459C>G	ENST00000029410.5	+	2	441	c.330C>G	c.(328-330)gtC>gtG	p.V110V		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	110					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTCCTGGTCTTCGTGCCCC	0.662																																						dbGAP											0													50.0	51.0	51.0					5																	177031459		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.330C>G	5.37:g.177031459C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN39|Q9UHN2	Silent	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.V110	ENST00000029410.5	37	c.330	CCDS4429.1	5																																																																																			B4GALT7	-	pfam_Galactosyl_T_2_met	ENSG00000027847		0.662	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1	81	0.00	0	C	NM_007255		177031459	177031459	+1	no_errors	ENST00000029410	ensembl	human	known	69_37n	silent	69	16.87	14	SNP	0.998	G
BAZ2A	11176	genome.wustl.edu	37	12	56992955	56992955	+	Missense_Mutation	SNP	C	C	T	rs200742397		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr12:56992955C>T	ENST00000551812.1	-	27	5559	c.5366G>A	c.(5365-5367)cGa>cAa	p.R1789Q	BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1759Q|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1757Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1787Q	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1789					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CATAGAGAGTCGCCGCCGCTT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		15917	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													24.0	26.0	25.0					12																	56992955		2017	4165	6182	-	-	-	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5366G>A	12.37:g.56992955C>T	ENSP00000446880:p.Arg1789Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN66|O00536|O15030|Q68DI8|Q96H26	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,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,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.R1789Q	ENST00000551812.1	37	c.5366	CCDS44924.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.0	4.790015	0.90367	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.36	5.36	0.76844	Bromodomain (2);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	0.999;0.996;0.996;1.0	D;P;P;D	0.85130	0.99;0.908;0.875;0.997	T	0.12708	-1.0537	10	0.66056	D	0.02	-9.2704	18.7213	0.91694	0.0:1.0:0.0:0.0	.	1787;1785;1789;1762	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	Q	1759;1757;1789;721;1787	ENSP00000368754:R1759Q;ENSP00000179765:R1757Q;ENSP00000446880:R1789Q;ENSP00000448760:R721Q;ENSP00000447941:R1787Q	ENSP00000179765:R1757Q	R	-	2	0	BAZ2A	55279222	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	6.302000	0.72788	2.894000	0.99253	0.591000	0.81541	CGA	BAZ2A	-	superfamily_Bromodomain	ENSG00000076108		0.617	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	42	0.00	0	C	NM_013449		56992955	56992955	-1	no_errors	ENST00000551812	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160295068	160295068	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:160295068G>C	ENST00000392783.2	-	8	1534	c.1039C>G	c.(1039-1041)Cct>Gct	p.P347A	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P345A|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P347A|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P345A	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	347					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						AAAACCTGAGGCTGCTTCTGC	0.448																																						dbGAP											0													179.0	174.0	176.0					2																	160295068		1870	4098	5968	-	-	-	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.1039C>G	2.37:g.160295068G>C	ENSP00000376534:p.Pro347Ala	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.P347A	ENST00000392783.2	37	c.1039	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893112	0.52121	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.35	5.35	0.76521	.	0.000000	0.36854	U	0.002371	T	0.29914	0.0748	L	0.57536	1.79	0.47065	D	0.999306	D;D;P;P;P	0.71674	0.998;0.998;0.919;0.919;0.767	D;D;P;P;B	0.78314	0.991;0.991;0.717;0.546;0.344	T	0.01084	-1.1457	10	0.23302	T	0.38	-11.0679	19.0931	0.93235	0.0:0.0:1.0:0.0	.	345;347;345;345;347	Q6MZK7;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	A	345;347;347;345;284	ENSP00000376533:P345A;ENSP00000376534:P347A;ENSP00000348087:P347A;ENSP00000339670:P345A	ENSP00000339670:P345A	P	-	1	0	BAZ2B	160003314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.089000	0.76909	2.489000	0.83994	0.655000	0.94253	CCT	BAZ2B	-	NULL	ENSG00000123636		0.448	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	195	0.00	0	G			160295068	160295068	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	227	25.82	79	SNP	1.000	C
C16orf91	283951	genome.wustl.edu	37	16	1470294	1470294	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr16:1470294G>A	ENST00000442039.2	-	2	428	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C	C16orf91_ENST00000310355.1_Intron|C16orf91_ENST00000563974.1_Missense_Mutation_p.R51C	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	118						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TCCTCAGAACGATCACTGGGC	0.637																																						dbGAP											0													91.0	98.0	95.0					16																	1470294		2199	4300	6499	-	-	-	SO:0001583	missense	0			BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.352C>T	16.37:g.1470294G>A	ENSP00000413100:p.Arg118Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96RZ0	Missense_Mutation	SNP	prints_CCSMST1	p.R118C	ENST00000442039.2	37	c.352		16	.	.	.	.	.	.	.	.	.	.	G	16.05	3.014197	0.54468	.	.	ENSG00000174109	ENST00000442039	.	.	.	4.02	-4.63	0.03359	.	.	.	.	.	T	0.39655	0.1086	.	.	.	0.09310	N	1	D	0.67145	0.996	P	0.47573	0.55	T	0.49263	-0.8958	7	0.56958	D	0.05	.	12.0545	0.53527	0.0:0.634:0.236:0.13	.	118	Q4G0I0	CSMT1_HUMAN	C	118	.	ENSP00000413100:R118C	R	-	1	0	C16orf91	1410295	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-1.472000	0.02341	-0.610000	0.05716	0.491000	0.48974	CGT	C16orf91	-	NULL	ENSG00000174109		0.637	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	C16orf91	HGNC	protein_coding	OTTHUMT00000432502.1	103	0.00	0	G	NM_001010878		1470294	1470294	-1	no_errors	ENST00000442039	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	0.000	A
C16orf89	146556	genome.wustl.edu	37	16	5097954	5097954	+	Missense_Mutation	SNP	C	C	T	rs370757226		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr16:5097954C>T	ENST00000315997.5	-	7	1081	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	C16orf89_ENST00000422873.1_Missense_Mutation_p.E332K|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_Missense_Mutation_p.E332K|C16orf89_ENST00000474471.3_Missense_Mutation_p.E326K|C16orf89_ENST00000472572.3_Missense_Mutation_p.E294K	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	294						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GATAATTCTTCATCTTCAGCA	0.333																																						dbGAP											0													63.0	55.0	58.0					16																	5097954		1804	4068	5872	-	-	-	SO:0001583	missense	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.880G>A	16.37:g.5097954C>T	ENSP00000324672:p.Glu294Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.E332K	ENST00000315997.5	37	c.994	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247534	0.39697	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T	0.46819	1.49;0.86;0.86;1.49	4.67	0.0322	0.14174	.	1.080090	0.07002	N	0.823569	T	0.36303	0.0962	L	0.50333	1.59	0.09310	N	1	B;B	0.16603	0.01;0.018	B;B	0.16722	0.013;0.016	T	0.32268	-0.9913	10	0.33141	T	0.24	-17.655	1.3673	0.02204	0.1627:0.3248:0.3168:0.1957	.	294;332	Q6UX73;G3V0F0	CP089_HUMAN;.	K	326;294;294;332;332;326	ENSP00000417158:E326K;ENSP00000420566:E294K;ENSP00000390402:E332K;ENSP00000283478:E332K	ENSP00000324672:E326K	E	-	1	0	C16orf89	5037955	0.000000	0.05858	0.001000	0.08648	0.688000	0.40055	0.157000	0.16402	0.453000	0.26858	0.561000	0.74099	GAA	C16orf89	-	NULL	ENSG00000153446		0.333	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	31	0.00	0	C	NM_152459		5097954	5097954	-1	no_errors	ENST00000350219	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	0.000	T
TRPV2	51393	genome.wustl.edu	37	17	16342523	16342524	+	IGR	INS	-	-	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:16342523_16342524insT	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCCGGCTCCTGCGCCCGCGTGG	0.683																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342523_16342524insT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML2|A8K0Z0|Q9Y670	RNA	INS	-	NULL	ENST00000338560.7	37	NULL	CCDS32576.1	17																																																																																			C17orf76-AS1	-	-	ENSG00000175061		0.683	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf76-AS1	HGNC	protein_coding	OTTHUMT00000130464.2	15	0.00	0	-	NM_016113		16342523	16342524	+1	no_errors	ENST00000470491	ensembl	human	known	69_37n	rna	4	42.86	3	INS	0.000:0.000	T
C17orf77	146723	genome.wustl.edu	37	17	72588620	72588620	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:72588620G>A	ENST00000392620.1	+	3	797	c.435G>A	c.(433-435)acG>acA	p.T145T	C17orf77_ENST00000328023.2_Silent_p.T145T|CD300LD_ENST00000375352.1_5'Flank	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	145						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGGTTTGCACGGGAGTGCACG	0.527																																						dbGAP											0													111.0	98.0	103.0					17																	72588620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.435G>A	17.37:g.72588620G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.T145	ENST00000392620.1	37	c.435	CCDS32721.1	17																																																																																			C17orf77	-	NULL	ENSG00000182352		0.527	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf77	HGNC	protein_coding	OTTHUMT00000145090.2	137	0.00	0	G	NM_152460		72588620	72588620	+1	no_errors	ENST00000328023	ensembl	human	known	69_37n	silent	168	17.24	35	SNP	0.001	A
PIK3CD	5293	genome.wustl.edu	37	1	9713891	9713891	+	Intron	SNP	G	G	A	rs571954874		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:9713891G>A	ENST00000377346.4	+	1	58				PIK3CD_ENST00000536656.1_Intron|C1orf200_ENST00000377320.3_Silent_p.A150A	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta						adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCCTGCTGGCGGCTTCCTGGG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		16564	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													99.0	103.0	102.0					1																	9713891		1870	4108	5978	-	-	-	SO:0001627	intron_variant	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.-138+2031G>A	1.37:g.9713891G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	NULL	p.A150	ENST00000377346.4	37	c.450	CCDS104.1	1																																																																																			C1orf200	-	NULL	ENSG00000179840		0.522	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf200	HGNC	protein_coding	OTTHUMT00000004235.1	155	0.00	0	G	NM_005026		9713891	9713891	-1	no_errors	ENST00000377320	ensembl	human	known	69_37n	silent	93	23.14	28	SNP	0.000	A
MROH9	80133	genome.wustl.edu	37	1	170916667	170916667	+	Splice_Site	SNP	G	G	A	rs187983561		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:170916667G>A	ENST00000367758.3	+	3	124		c.e3-1		MROH9_ENST00000367759.4_Splice_Site	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9																		TTTCTGGCTAGAGAGTAGTCT	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17682	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													140.0	128.0	132.0					1																	170916667		1866	4106	5972	-	-	-	SO:0001630	splice_region_variant	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.26-1G>A	1.37:g.170916667G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Splice_Site	SNP	-	e2-1	ENST00000367758.3	37	c.26-1	CCDS41436.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	8.621	0.891319	0.17613	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	.	.	.	2.82	2.82	0.32997	.	.	.	.	.	.	.	.	.	.	.	0.43430	D	0.995592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4139	0.38510	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf129	169183291	0.512000	0.26186	0.018000	0.16275	0.095000	0.18619	3.318000	0.51975	1.914000	0.55421	0.644000	0.83932	.	C1orf129	-	-	ENSG00000117501		0.388	MROH9-001	KNOWN	basic|CCDS	protein_coding	C1orf129	HGNC	protein_coding	OTTHUMT00000099327.1	147	0.00	0	G	NM_025063	Intron	170916667	170916667	+1	no_errors	ENST00000367759	ensembl	human	known	69_37n	splice_site	223	21.95	63	SNP	0.019	A
C6orf62	81688	genome.wustl.edu	37	6	24716531	24716531	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr6:24716531C>T	ENST00000378119.4	-	2	2318	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	C6orf62_ENST00000540769.1_5'UTR|C6orf62_ENST00000378102.3_Missense_Mutation_p.E22K	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	51						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TCAGACACTTCAAAAAGTGCT	0.373																																						dbGAP											0													46.0	50.0	49.0					6																	24716531		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.151G>A	6.37:g.24716531C>T	ENSP00000367359:p.Glu51Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	NULL	p.E51K	ENST00000378119.4	37	c.151	CCDS4559.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.131395	0.97310	.	.	ENSG00000112308	ENST00000378119;ENST00000378102	T;T	0.39229	1.09;1.09	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	D	0.73708	0.981	T	0.51498	-0.8698	10	0.87932	D	0	-13.9995	20.1133	0.97917	0.0:1.0:0.0:0.0	.	51	Q9GZU0	CF062_HUMAN	K	51;22	ENSP00000367359:E51K;ENSP00000367342:E22K	ENSP00000367342:E22K	E	-	1	0	C6orf62	24824510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.412000	0.80091	2.762000	0.94881	0.591000	0.81541	GAA	C6orf62	-	NULL	ENSG00000112308		0.373	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf62	HGNC	protein_coding	OTTHUMT00000040017.1	102	0.00	0	C	NM_030939		24716531	24716531	-1	no_errors	ENST00000378119	ensembl	human	known	69_37n	missense	81	23.36	25	SNP	1.000	T
CACNA1A	773	genome.wustl.edu	37	19	13370401	13370401	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr19:13370401C>T	ENST00000360228.5	-	27	4364	c.4365G>A	c.(4363-4365)gtG>gtA	p.V1455V	CACNA1A_ENST00000573710.2_Silent_p.V1456V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1456					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCCGTGGACACGGTGAAGA	0.552																																						dbGAP											0													42.0	44.0	43.0					19																	13370401		1954	4138	6092	-	-	-	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4365G>A	19.37:g.13370401C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.V1455	ENST00000360228.5	37	c.4365	CCDS45998.1	19																																																																																			CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	29	0.00	0	C	NM_000068		13370401	13370401	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	silent	28	27.50	11	SNP	1.000	T
CACNA1G	8913	genome.wustl.edu	37	17	48669383	48669383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:48669383delT	ENST00000359106.5	+	13	2840	c.2840delT	c.(2839-2841)ctcfs	p.L947fs	CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.L947fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.L947fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	947					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCATTGCCCTCATGACCTTC	0.577																																						dbGAP											0													76.0	83.0	81.0					17																	48669383		2014	4180	6194	-	-	-	SO:0001589	frameshift_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2840delT	17.37:g.48669383delT	ENSP00000352011:p.Leu947fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L947fs	ENST00000359106.5	37	c.2840	CCDS45730.1	17																																																																																			CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	72	0.00	0	T	NM_018896		48669383	48669383	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	frame_shift_del	39	32.20	19	DEL	1.000	-
CBLB	868	genome.wustl.edu	37	3	105459369	105459369	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr3:105459369G>C	ENST00000264122.4	-	7	1273	c.952C>G	c.(952-954)Caa>Gaa	p.Q318E	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.Q318E|CBLB_ENST00000394027.3_Missense_Mutation_p.Q340E|CBLB_ENST00000403724.1_Missense_Mutation_p.Q318E	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	318	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATCAGGGCTTGAAATAAGGGC	0.418			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													145.0	125.0	132.0					3																	105459369		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.952C>G	3.37:g.105459369G>C	ENSP00000264122:p.Gln318Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.Q318E	ENST00000264122.4	37	c.952	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771232	0.90108	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.73	5.73	0.89815	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.053945	0.85682	D	0.000000	D	0.88793	0.6533	M	0.82517	2.595	0.80722	D	1	P;P;D	0.58970	0.876;0.836;0.984	B;B;P	0.54759	0.222;0.175;0.76	D	0.89946	0.4076	10	0.87932	D	0	-17.4383	19.9155	0.97058	0.0:0.0:1.0:0.0	.	340;318;318	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	E	318;340;318;318	ENSP00000264122:Q318E;ENSP00000377595:Q340E;ENSP00000384816:Q318E;ENSP00000384938:Q318E	ENSP00000264122:Q318E	Q	-	1	0	CBLB	106942059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.465000	0.97660	2.699000	0.92147	0.650000	0.86243	CAA	CBLB	-	pfam_Adaptor_Cbl_SH2-like	ENSG00000114423		0.418	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	188	0.00	0	G	NM_170662		105459369	105459369	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	missense	210	20.68	55	SNP	1.000	C
CC2D1A	54862	genome.wustl.edu	37	19	14034266	14034266	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr19:14034266G>A	ENST00000318003.7	+	15	2003	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	CC2D1A_ENST00000589606.1_Missense_Mutation_p.E588K	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	588					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCAGCAGCACGAGGTGAGGGG	0.657																																						dbGAP											0													74.0	77.0	76.0					19																	14034266		2055	4171	6226	-	-	-	SO:0001583	missense	0			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1762G>A	19.37:g.14034266G>A	ENSP00000313601:p.Glu588Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.E588K	ENST00000318003.7	37	c.1762	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345543	0.82022	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000397486	T	0.27256	1.68	5.19	5.19	0.71726	.	0.119478	0.56097	D	0.000033	T	0.32346	0.0826	L	0.38838	1.175	0.54753	D	0.999989	B;D;D	0.63046	0.165;0.958;0.992	B;B;P	0.52856	0.018;0.339;0.711	T	0.01679	-1.1297	10	0.40728	T	0.16	-19.6331	15.6671	0.77238	0.0:0.0:1.0:0.0	.	210;588;588	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	K	588;211;342	ENSP00000313601:E588K	ENSP00000254346:E211K	E	+	1	0	CC2D1A	13895266	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	5.377000	0.66184	2.434000	0.82447	0.555000	0.69702	GAG	CC2D1A	-	NULL	ENSG00000132024		0.657	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	63	0.00	0	G	NM_017721		14034266	14034266	+1	no_errors	ENST00000318003	ensembl	human	known	69_37n	missense	55	21.43	15	SNP	1.000	A
SPDL1	54908	genome.wustl.edu	37	5	169023706	169023706	+	Splice_Site	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr5:169023706G>A	ENST00000265295.4	+	8	1311		c.e8+1			NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GAAATTTAAGGTATGTATAAC	0.284																																						dbGAP											0													41.0	45.0	44.0					5																	169023706		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1032+1G>A	5.37:g.169023706G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e7+1	ENST00000265295.4	37	c.1032+1	CCDS4370.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952638	0.73787	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000505977	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2188	0.93788	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC99	168956284	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.987000	0.88182	2.520000	0.84964	0.650000	0.86243	.	CCDC99	-	-	ENSG00000040275		0.284	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC99	HGNC	protein_coding	OTTHUMT00000252829.2	127	0.00	0	G	NM_017785	Intron	169023706	169023706	+1	no_errors	ENST00000265295	ensembl	human	known	69_37n	splice_site	120	30.46	53	SNP	1.000	A
CDCP1	64866	genome.wustl.edu	37	3	45152068	45152068	+	Silent	SNP	C	C	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr3:45152068C>A	ENST00000296129.1	-	4	1055	c.921G>T	c.(919-921)ggG>ggT	p.G307G	CDCP1_ENST00000425231.2_Silent_p.G307G|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	307						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGTTGAAGTTCCCCGCCATGT	0.552																																						dbGAP											0													178.0	158.0	165.0					3																	45152068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.921G>T	3.37:g.45152068C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	superfamily_CUB	p.G307	ENST00000296129.1	37	c.921	CCDS2727.1	3																																																																																			CDCP1	-	NULL	ENSG00000163814		0.552	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	182	0.00	0	C	NM_022842		45152068	45152068	-1	no_errors	ENST00000296129	ensembl	human	known	69_37n	silent	103	13.45	16	SNP	0.993	A
CDH8	1006	genome.wustl.edu	37	16	61689531	61689531	+	Silent	SNP	A	A	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr16:61689531A>G	ENST00000577390.1	-	11	2703	c.1749T>C	c.(1747-1749)aaT>aaC	p.N583N	CDH8_ENST00000577730.1_Silent_p.N583N|CDH8_ENST00000299345.6_Silent_p.N583N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	583	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCAGTGGAGGATTTCCACTAT	0.443																																						dbGAP											0													152.0	135.0	141.0					16																	61689531		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1749T>C	16.37:g.61689531A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N583	ENST00000577390.1	37	c.1749	CCDS10802.1	16																																																																																			CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150394		0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	113	0.00	0	A	NM_001796		61689531	61689531	-1	no_errors	ENST00000577390	ensembl	human	known	69_37n	silent	125	18.30	28	SNP	0.092	G
CDO1	1036	genome.wustl.edu	37	5	115146915	115146915	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr5:115146915C>G	ENST00000250535.4	-	3	902	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	116					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	TTGACCATCTCATTGGATTTT	0.408																																						dbGAP											0													241.0	233.0	236.0					5																	115146915		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.346G>C	5.37:g.115146915C>G	ENSP00000250535:p.Glu116Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAK4|P78513|Q6FHZ8|Q8TB64	Missense_Mutation	SNP	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.E116Q	ENST00000250535.4	37	c.346	CCDS4121.1	5	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334065	0.41297	.	.	ENSG00000129596	ENST00000250535	T	0.44881	0.91	6.03	5.16	0.70880	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.087644	0.85682	D	0.000000	T	0.38719	0.1051	L	0.46670	1.46	0.51482	D	0.999926	B	0.24317	0.101	B	0.28709	0.093	T	0.14896	-1.0456	10	0.21014	T	0.42	-12.7735	15.1603	0.72778	0.0:0.9318:0.0:0.0682	.	116	Q16878	CDO1_HUMAN	Q	116	ENSP00000250535:E116Q	ENSP00000250535:E116Q	E	-	1	0	CDO1	115174814	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	5.886000	0.69743	1.558000	0.49541	0.655000	0.94253	GAG	CDO1	-	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	ENSG00000129596		0.408	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	HGNC	protein_coding	OTTHUMT00000250853.2	542	0.00	0	C	NM_001801		115146915	115146915	-1	no_errors	ENST00000250535	ensembl	human	known	69_37n	missense	462	21.28	126	SNP	0.999	G
CNTN2	6900	genome.wustl.edu	37	1	205030995	205030995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:205030995C>T	ENST00000331830.4	+	9	1260	c.976C>T	c.(976-978)Cag>Tag	p.Q326*	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	326					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCCCACAGCTCAGCCTGAGTG	0.582											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(183;2548 2817 37099 41192)	dbGAP											0													62.0	68.0	66.0					1																	205030995		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.976C>T	1.37:g.205030995C>T	ENSP00000330633:p.Gln326*	Somatic	2149	WXS	Illumina GAIIx	Phase_IV	P78432|Q5T054	Nonsense_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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q326*	ENST00000331830.4	37	c.976	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.692252	0.98438	.	.	ENSG00000184144	ENST00000331830	.	.	.	4.96	2.98	0.34508	.	0.131188	0.34411	N	0.003981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	9.2552	0.37579	0.1448:0.7767:0.0:0.0786	.	.	.	.	X	326	.	ENSP00000330633:Q326X	Q	+	1	0	CNTN2	203297618	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	4.654000	0.61469	1.054000	0.40438	0.563000	0.77884	CAG	CNTN2	-	NULL	ENSG00000184144		0.582	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	89	0.00	0	C	NM_005076		205030995	205030995	+1	no_errors	ENST00000331830	ensembl	human	known	69_37n	nonsense	75	20.21	19	SNP	1.000	T
CORO6	84940	genome.wustl.edu	37	17	27946141	27946142	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:27946141_27946142delGG	ENST00000445145.2	-	3	388_389	c.387_388delCC	c.(385-390)ggccacfs	p.H130fs	CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000580212.1_Frame_Shift_Del_p.H130fs|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000584969.1_Frame_Shift_Del_p.H130fs|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000345068.5_Frame_Shift_Del_p.H130fs|CORO6_ENST00000388767.3_Frame_Shift_Del_p.H130fs|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	130					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CGCTTGGAGTGGCCCTCAAGTG	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.387_388delCC	17.37:g.27946141_27946142delGG	ENSP00000393624:p.His130fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU26|Q71MF3|Q8WYH7|Q96K02	Frame_Shift_Del	DEL	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H130fs	ENST00000445145.2	37	c.388_387		17																																																																																			CORO6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000167549		0.559	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	CORO6	HGNC	protein_coding	OTTHUMT00000447831.1	20	0.00	0	GG	NM_032854		27946141	27946142	-1	no_errors	ENST00000345068	ensembl	human	known	69_37n	frame_shift_del	11	38.89	7	DEL	1.000:1.000	-
CRYGC	1420	genome.wustl.edu	37	2	208992995	208992995	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:208992995G>A	ENST00000282141.3	-	3	494	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	153	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCCTGGCACCGCCTGTACTCT	0.572																																						dbGAP											0													61.0	67.0	65.0					2																	208992995		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.457C>T	2.37:g.208992995G>A	ENSP00000282141:p.Arg153Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53R50	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R153W	ENST00000282141.3	37	c.457	CCDS2379.1	2	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388961	0.42308	.	.	ENSG00000163254	ENST00000282141	T	0.75589	-0.95	4.98	2.98	0.34508	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.190513	0.43260	D	0.000585	T	0.78298	0.4261	M	0.83774	2.66	0.18873	N	0.999989	B	0.31009	0.303	B	0.39379	0.298	T	0.73736	-0.3889	10	0.87932	D	0	.	11.2121	0.48804	0.0:0.0:0.5668:0.4331	.	153	P07315	CRGC_HUMAN	W	153	ENSP00000282141:R153W	ENSP00000282141:R153W	R	-	1	2	CRYGC	208701240	0.004000	0.15560	0.457000	0.27056	0.979000	0.70002	0.767000	0.26575	1.169000	0.42739	0.557000	0.71058	CGG	CRYGC	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	ENSG00000163254		0.572	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGC	HGNC	protein_coding	OTTHUMT00000256474.1	173	0.00	0	G	NM_020989		208992995	208992995	-1	no_errors	ENST00000282141	ensembl	human	known	69_37n	missense	80	22.86	24	SNP	0.113	A
CSGALNACT2	55454	genome.wustl.edu	37	10	43654238	43654238	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr10:43654238G>C	ENST00000374466.3	+	3	1072	c.737G>C	c.(736-738)aGa>aCa	p.R246T	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R246T	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	246					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACGGAATATAGACATGTGACC	0.393																																						dbGAP											0													105.0	101.0	102.0					10																	43654238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.737G>C	10.37:g.43654238G>C	ENSP00000363590:p.Arg246Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.R246T	ENST00000374466.3	37	c.737	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054889	0.75960	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.24538	1.85;1.85	5.57	5.57	0.84162	.	0.043429	0.85682	D	0.000000	T	0.39145	0.1067	L	0.58101	1.795	0.54753	D	0.999985	P;P	0.47191	0.891;0.867	P;P	0.54060	0.741;0.623	T	0.05053	-1.0909	10	0.44086	T	0.13	-17.2526	12.8276	0.57728	0.0746:0.0:0.9254:0.0	.	246;246	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	T	246	ENSP00000363590:R246T;ENSP00000363588:R246T	ENSP00000363588:R246T	R	+	2	0	CSGALNACT2	42974244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.421000	0.73353	2.622000	0.88805	0.591000	0.81541	AGA	CSGALNACT2	-	pfam_Chond_GalNAc	ENSG00000169826		0.393	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	150	0.00	0	G	NM_018590		43654238	43654238	+1	no_errors	ENST00000374466	ensembl	human	known	69_37n	missense	63	42.20	46	SNP	1.000	C
CTNS	1497	genome.wustl.edu	37	17	3558297	3558298	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:3558297_3558298insT	ENST00000046640.3	+	6	824_825	c.231_232insT	c.(232-234)gtgfs	p.V78fs	CTNS_ENST00000441220.2_Intron|CTNS_ENST00000414524.2_5'UTR|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000381870.3_Frame_Shift_Ins_p.V78fs	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	78					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	AACAGGTTGTGGTGCCTCCTGG	0.49																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	Exception_encountered	17.37:g.3558297_3558298insT	ENSP00000046640:p.Val78fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTJ5|Q8IZ01|Q9UNK6	Frame_Shift_Ins	INS	smart_CTNS,tigrfam_LC_transporter	p.V77fs	ENST00000046640.3	37	c.231_232	CCDS11031.1	17																																																																																			CTNS	-	NULL	ENSG00000040531		0.490	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1	73	0.00	0	-	NM_004937		3558297	3558298	+1	no_errors	ENST00000381870	ensembl	human	known	69_37n	frame_shift_ins	60	31.82	28	INS	0.954:0.972	T
CTNS	1497	genome.wustl.edu	37	17	3558301	3558303	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:3558301_3558303delCCT	ENST00000046640.3	+	6	828_830	c.235_237delCCT	c.(235-237)cctdel	p.P80del	CTNS_ENST00000441220.2_Intron|CTNS_ENST00000414524.2_5'UTR|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000381870.3_In_Frame_Del_p.P80del	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	80					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	GGTTGTGGTGCCTCCTGGAGTGA	0.493																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.235_237delCCT	17.37:g.3558304_3558306delCCT	ENSP00000046640:p.Pro80del	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTJ5|Q8IZ01|Q9UNK6	In_Frame_Del	DEL	smart_CTNS,tigrfam_LC_transporter	p.P80in_frame_del	ENST00000046640.3	37	c.235_237	CCDS11031.1	17																																																																																			CTNS	-	NULL	ENSG00000040531		0.493	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1	74	0.00	0	CCT	NM_004937		3558301	3558303	+1	no_errors	ENST00000381870	ensembl	human	known	69_37n	in_frame_del	61	31.46	28	DEL	1.000:1.000:0.998	-
DCLK1	9201	genome.wustl.edu	37	13	36686078	36686078	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr13:36686078G>A	ENST00000360631.3	-	3	862	c.651C>T	c.(649-651)ctC>ctT	p.L217L	DCLK1_ENST00000255448.4_Silent_p.L217L|DCLK1_ENST00000379892.4_Silent_p.L217L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	217	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGATATCGGTGAGGACCTGCT	0.512																																						dbGAP											0													173.0	144.0	154.0					13																	36686078		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.651C>T	13.37:g.36686078G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.L217	ENST00000360631.3	37	c.651		13																																																																																			DCLK1	-	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000133083		0.512	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	138	0.00	0	G	NM_004734		36686078	36686078	-1	no_errors	ENST00000360631	ensembl	human	known	69_37n	silent	110	23.61	34	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21882253	21882253	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:21882253G>A	ENST00000409508.3	+	66	10814	c.10783G>A	c.(10783-10785)Gaa>Aaa	p.E3595K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E3602K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3602	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTATAAGCCGGAATTACAAGC	0.413									Kartagener syndrome																													dbGAP											0													86.0	81.0	83.0					7																	21882253		1893	4108	6001	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10783G>A	7.37:g.21882253G>A	ENSP00000475939:p.Glu3595Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	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.E3602K	ENST00000409508.3	37	c.10804		7	.	.	.	.	.	.	.	.	.	.	G	34	5.317360	0.95682	.	.	ENSG00000105877	ENST00000328843	T	0.31247	1.5	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	.	.	.	0.80722	D	1	D	0.63046	0.992	D	0.65010	0.931	T	0.59674	-0.7410	9	0.72032	D	0.01	.	17.8716	0.88813	0.0:0.0:1.0:0.0	.	3602	Q96DT5	DYH11_HUMAN	K	3602	ENSP00000330671:E3602K	ENSP00000330671:E3602K	E	+	1	0	DNAH11	21848778	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.721000	0.74728	2.514000	0.84764	0.655000	0.94253	GAA	DNAH11	-	NULL	ENSG00000105877		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	91	0.00	0	G	NM_003777		21882253	21882253	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	100	23.08	30	SNP	1.000	A
DRP2	1821	genome.wustl.edu	37	X	100493982	100493982	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chrX:100493982G>A	ENST00000395209.3	+	6	978	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	DRP2_ENST00000402866.1_Missense_Mutation_p.E151K|DRP2_ENST00000538510.1_Missense_Mutation_p.E151K|DRP2_ENST00000541709.1_Missense_Mutation_p.E73K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	151					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CTTTATGGAAGAAGTCAAGTC	0.448																																						dbGAP											0													116.0	108.0	111.0					X																	100493982		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.451G>A	X.37:g.100493982G>A	ENSP00000378635:p.Glu151Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E151K	ENST00000395209.3	37	c.451	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049520	0.75846	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.42	5.42	0.78866	.	0.156529	0.56097	D	0.000027	T	0.49372	0.1553	M	0.70275	2.135	0.49483	D	0.999791	P	0.34522	0.455	B	0.28553	0.091	T	0.56402	-0.7985	10	0.72032	D	0.01	-3.0915	18.2643	0.90048	0.0:0.0:1.0:0.0	.	151	Q13474	DRP2_HUMAN	K	151;151;73;151	ENSP00000385038:E151K;ENSP00000378635:E151K;ENSP00000444752:E73K;ENSP00000441051:E151K	ENSP00000362007:E151K	E	+	1	0	DRP2	100380638	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.209000	0.95087	2.251000	0.74343	0.499000	0.49734	GAA	DRP2	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2	ENSG00000102385		0.448	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	171	0.58	1	G	NM_001939		100493982	100493982	+1	no_errors	ENST00000395209	ensembl	human	known	69_37n	missense	149	19.35	36	SNP	1.000	A
DSTYK	25778	genome.wustl.edu	37	1	205132057	205132057	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:205132057G>A	ENST00000367162.3	-	5	1665	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	DSTYK_ENST00000367161.3_Silent_p.I545I|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	545					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTACCTGTTTGATTTGCTCCC	0.413																																						dbGAP											0													195.0	185.0	188.0					1																	205132057		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1635C>T	1.37:g.205132057G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	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.I545	ENST00000367162.3	37	c.1635	CCDS1451.1	1																																																																																			DSTYK	-	NULL	ENSG00000133059		0.413	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	206	0.00	0	G	NM_015375		205132057	205132057	-1	no_errors	ENST00000367162	ensembl	human	known	69_37n	silent	183	18.30	41	SNP	1.000	A
ECM2	1842	genome.wustl.edu	37	9	95277170	95277170	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:95277170C>T	ENST00000344604.5	-	4	946	c.797G>A	c.(796-798)cGc>cAc	p.R266H	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.R244H	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	266					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						cCTTCCTTGGCGTTGTTGCTG	0.582																																						dbGAP											0													224.0	188.0	200.0					9																	95277170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.797G>A	9.37:g.95277170C>T	ENSP00000344758:p.Arg266His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.R266H	ENST00000344604.5	37	c.797	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800451	0.16397	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.50277	0.75;0.75	4.28	0.668	0.17912	.	2.690230	0.01336	N	0.011395	T	0.30293	0.0760	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12630	0.002;0.002;0.006	B;B;B	0.06405	0.001;0.001;0.002	T	0.13176	-1.0519	10	0.14252	T	0.57	.	7.1217	0.25448	0.0:0.4415:0.0:0.5585	.	266;244;244	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	H	244;266	ENSP00000393971:R244H;ENSP00000344758:R266H	ENSP00000344758:R266H	R	-	2	0	ECM2	94316991	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.190000	0.32126	0.024000	0.15214	-0.312000	0.09012	CGC	ECM2	-	NULL	ENSG00000106823		0.582	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1	320	0.00	0	C	NM_001393		95277170	95277170	-1	no_errors	ENST00000344604	ensembl	human	known	69_37n	missense	343	23.21	104	SNP	0.000	T
EML5	161436	genome.wustl.edu	37	14	89212617	89212617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr14:89212617G>T	ENST00000380664.5	-	3	367	c.368C>A	c.(367-369)tCa>tAa	p.S123*	EML5_ENST00000554922.1_Nonsense_Mutation_p.S123*|EML5_ENST00000352093.5_Nonsense_Mutation_p.S123*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	123						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						AAGTCCAACTGAAACCAAGCG	0.368																																						dbGAP											0													124.0	113.0	116.0					14																	89212617		1840	4085	5925	-	-	-	SO:0001587	stop_gained	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.368C>A	14.37:g.89212617G>T	ENSP00000370039:p.Ser123*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S123*	ENST00000380664.5	37	c.368	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.667042	0.98422	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3827	19.6102	0.95602	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000298315:S123X	S	-	2	0	EML5	88282370	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	2.630000	0.89119	0.563000	0.77884	TCA	EML5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165521		0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	184	0.00	0	G			89212617	89212617	-1	no_errors	ENST00000554922	ensembl	human	known	69_37n	nonsense	181	19.56	44	SNP	1.000	T
TLR9	54106	genome.wustl.edu	37	3	52255704	52255704	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr3:52255704G>A	ENST00000360658.2	-	2	3261	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F	TLR9_ENST00000494383.1_Nonsense_Mutation_p.R1030*|TLR9_ENST00000597542.1_Silent_p.F900F	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	876	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	GCGTTTTGTCGAAGACCACGA	0.657																																						dbGAP											0													82.0	80.0	81.0					3																	52255704		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2628C>T	3.37:g.52255704G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,pfam_Actin-bd_cofilin/tropomyosin,superfamily_TIR_dom,smart_Actin-bd_cofilin/tropomyosin,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom	p.R1030*	ENST00000360658.2	37	c.3088	CCDS2848.1	3	.	.	.	.	.	.	.	.	.	.	G	0.280	-0.987216	0.02180	.	.	ENSG00000173366	ENST00000494383	.	.	.	5.1	-4.53	0.03462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5619	0.56286	0.6155:0.0:0.3845:0.0	.	.	.	.	X	1030	.	.	R	-	1	2	RP11-330H6.5	52230744	0.001000	0.12720	0.884000	0.34674	0.125000	0.20455	-1.298000	0.02756	-1.209000	0.02631	-0.940000	0.02684	CGA	RP11-330H6.5	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000173366		0.657	TLR9-001	KNOWN	basic|CCDS	protein_coding	ENSG00000173366	Clone_based_vega_gene	protein_coding	OTTHUMT00000350203.1	96	0.00	0	G			52255704	52255704	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000494383	ensembl	human	putative	69_37n	nonsense	16	43.33	13	SNP	0.970	A
UBAP2L	9898	genome.wustl.edu	37	1	154232226	154232226	+	Intron	SNP	G	G	A	rs549278760		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:154232226G>A	ENST00000361546.2	+	21	2538				UBAP2L_ENST00000428931.1_Intron|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000271877.7_Intron|UBAP2L_ENST00000343815.6_Intron			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACCTTGTCTGACTGTGCTCA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18109	0.0		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2497-198G>A	1.37:g.154232226G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	SNP	-	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			SNORA58	-	-	ENSG00000201129		0.458	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000201129	RFAM	protein_coding	OTTHUMT00000087673.1	44	0.00	0	G	NM_014847		154232226	154232226	+1	no_errors	ENST00000364259	ensembl	human	known	69_37n	rna	45	39.19	29	SNP	0.075	A
EPC1	80314	genome.wustl.edu	37	10	32594768	32594768	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr10:32594768T>C	ENST00000263062.8	-	2	514	c.245A>G	c.(244-246)aAt>aGt	p.N82S	EPC1_ENST00000375110.2_Missense_Mutation_p.N32S|EPC1_ENST00000319778.6_Missense_Mutation_p.N82S	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	82					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GTAAGCAATATTACTTTCTGC	0.393																																						dbGAP											0													109.0	103.0	105.0					10																	32594768		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.245A>G	10.37:g.32594768T>C	ENSP00000263062:p.Asn82Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.N82S	ENST00000263062.8	37	c.245	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547074	0.86022	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.39787	1.06;1.06;1.06	5.44	5.44	0.79542	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	N	0.21142	0.635	0.80722	D	1	P;D;D;P	0.71674	0.563;0.998;0.957;0.723	B;D;P;P	0.63488	0.344;0.915;0.857;0.536	T	0.30327	-0.9982	10	0.16896	T	0.51	-16.6733	15.5026	0.75713	0.0:0.0:0.0:1.0	.	82;32;82;82	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	S	32;82;82	ENSP00000364251:N32S;ENSP00000318559:N82S;ENSP00000263062:N82S	ENSP00000263062:N82S	N	-	2	0	EPC1	32634774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.058000	0.61347	0.477000	0.44152	AAT	EPC1	-	pfam_Enhancer_polycomb-like_N	ENSG00000120616		0.393	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	178	0.00	0	T			32594768	32594768	-1	no_errors	ENST00000263062	ensembl	human	known	69_37n	missense	106	32.91	52	SNP	1.000	C
ERBB3	2065	genome.wustl.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr12:56482341G>T	ENST00000267101.3	+	8	1329	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	297					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.D297Y(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512																																						dbGAP											1	Substitution - Missense(1)	breast(1)											214.0	207.0	209.0					12																	56482341		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.889G>T	12.37:g.56482341G>T	ENSP00000267101:p.Asp297Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D297Y	ENST00000267101.3	37	c.889	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070538	0.76301	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84516	-1.86;-1.86	5.2	5.2	0.72013	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000003	D	0.90659	0.7070	L	0.53671	1.685	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91282	0.5052	10	0.87932	D	0	.	17.6771	0.88233	0.0:0.0:1.0:0.0	.	297	P21860	ERBB3_HUMAN	Y	297;297;238	ENSP00000267101:D297Y;ENSP00000408340:D238Y	ENSP00000267101:D297Y	D	+	1	0	ERBB3	54768608	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.173000	0.94815	2.706000	0.92434	0.563000	0.77884	GAT	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt	ENSG00000065361		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	338	0.00	0	G			56482341	56482341	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	missense	261	21.56	72	SNP	1.000	T
FBXO42	54455	genome.wustl.edu	37	1	16579650	16579650	+	Intron	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:16579650G>A	ENST00000375592.3	-	8	1081					NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42											autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ATGACAATCTGAGGAGGGGAA	0.448																																						dbGAP											0													65.0	58.0	60.0					1																	16579650		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.865-3C>T	1.37:g.16579650G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Nonsense_Mutation	SNP	NULL	p.Q6*	ENST00000375592.3	37	c.16	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752853	0.89753	.	.	ENSG00000037637	ENST00000456164;ENST00000444116	.	.	.	5.52	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9282	0.47203	0.1504:0.0:0.8496:0.0	.	.	.	.	X	6	.	.	Q	-	1	0	FBXO42	16452237	0.983000	0.35010	0.993000	0.49108	0.922000	0.55478	1.027000	0.30115	0.710000	0.31997	0.655000	0.94253	CAG	FBXO42	-	NULL	ENSG00000037637		0.448	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	66	0.00	0	G			16579650	16579650	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000444116	ensembl	human	known	69_37n	nonsense	46	26.56	17	SNP	0.999	A
FLT4	2324	genome.wustl.edu	37	5	180030295	180030296	+	Frame_Shift_Ins	INS	-	-	CCTG			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr5:180030295_180030296insCCTG	ENST00000261937.6	-	30	4066_4067	c.3988_3989insCAGG	c.(3988-3990)cagfs	p.Q1330fs		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1330					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTAAAACACCTGGCCTCCTCGG	0.639																																					Colon(97;1075 1466 27033 27547 35871)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3988_3989insCAGG	5.37:g.180030295_180030296insCCTG	ENSP00000261937:p.Gln1330fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.Q1330fs	ENST00000261937.6	37	c.3989_3988	CCDS4457.1	5																																																																																			FLT4	-	NULL	ENSG00000037280		0.639	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	36	0.00	0	-			180030295	180030296	-1	no_errors	ENST00000261937	ensembl	human	known	69_37n	frame_shift_ins	55	43.30	42	INS	1.000:1.000	CCTG
FOXK1	221937	genome.wustl.edu	37	7	4796811	4796812	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:4796811_4796812insG	ENST00000328914.4	+	5	1237_1238	c.1237_1238insG	c.(1237-1239)tccfs	p.S413fs	FOXK1_ENST00000446823.1_Frame_Shift_Ins_p.S250fs	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGGGCCTCTGTCCTCAAGGTAA	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	Exception_encountered	7.37:g.4796811_4796812insG	ENSP00000328720:p.Ser413fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.S413fs	ENST00000328914.4	37	c.1237_1238	CCDS34591.1	7																																																																																			FOXK1	-	NULL	ENSG00000164916		0.599	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	41	0.00	0	-			4796811	4796812	+1	no_errors	ENST00000328914	ensembl	human	known	69_37n	frame_shift_ins	17	29.17	7	INS	1.000:1.000	G
GATAD2A	54815	genome.wustl.edu	37	19	19612071	19612071	+	Frame_Shift_Del	DEL	C	C	-	rs140486052		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr19:19612071delC	ENST00000360315.3	+	9	1658	c.1346delC	c.(1345-1347)gcgfs	p.A449fs	GATAD2A_ENST00000252577.5_Frame_Shift_Del_p.A449fs|GATAD2A_ENST00000429563.2_Frame_Shift_Del_p.A277fs|GATAD2A_ENST00000358713.3_Frame_Shift_Del_p.A449fs|GATAD2A_ENST00000537887.1_Frame_Shift_Del_p.A78fs|GATAD2A_ENST00000404158.1_Frame_Shift_Del_p.A450fs	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	449	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CAGAAGAAGGCGCTCAAGGTG	0.617																																						dbGAP											0													47.0	37.0	40.0					19																	19612071		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1346delC	19.37:g.19612071delC	ENSP00000353463:p.Ala449fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Frame_Shift_Del	DEL	pfam_Znf_GATA,pfscan_Znf_GATA	p.A450fs	ENST00000360315.3	37	c.1349	CCDS12402.2	19																																																																																			GATAD2A	-	pfam_Znf_GATA	ENSG00000167491		0.617	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	HGNC	protein_coding	OTTHUMT00000326671.4	17	0.00	0	C	NM_017660		19612071	19612071	+1	no_errors	ENST00000404158	ensembl	human	known	69_37n	frame_shift_del	8	38.46	5	DEL	0.995	-
GOLGB1	2804	genome.wustl.edu	37	3	121435775	121435775	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr3:121435775G>A	ENST00000340645.5	-	9	1207	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S366F	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	361					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)		ACTATACCGAGACTCTAGTTC	0.448																																						dbGAP											0													130.0	127.0	128.0					3																	121435775		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.1082C>T	3.37:g.121435775G>A	ENSP00000341848:p.Ser361Phe	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.S361F	ENST00000340645.5	37	c.1082	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.591|1.591	-0.528975|-0.528975	0.04112|0.04112	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000489400|ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	.|T;T;T	.|0.27720	.|2.26;2.26;1.65	6.07|6.07	3.27|3.27	0.37495|0.37495	.|.	.|0.366657	.|0.23859	.|N	.|0.043865	T|T	0.25938|0.25938	0.0632|0.0632	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|B;P;B;B;B	.|0.34724	.|0.328;0.465;0.328;0.178;0.328	.|B;B;B;B;B	.|0.29663	.|0.105;0.105;0.105;0.077;0.105	T|T	0.23404|0.23404	-1.0189|-1.0189	5|10	.|0.62326	.|D	.|0.03	.|.	6.0818|6.0818	0.19944|0.19944	0.1578:0.0:0.6916:0.1507|0.1578:0.0:0.6916:0.1507	.|.	.|286;325;366;366;361	.|F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.|.;.;.;.;GOGB1_HUMAN	F|F	232|361;366;325;173	.|ENSP00000341848:S361F;ENSP00000377275:S366F;ENSP00000418231:S325F	.|ENSP00000341848:S361F	L|S	-|-	1|2	0|0	GOLGB1|GOLGB1	122918465|122918465	0.787000|0.787000	0.28750|0.28750	0.020000|0.020000	0.16555|0.16555	0.053000|0.053000	0.15095|0.15095	1.275000|1.275000	0.33144|0.33144	0.415000|0.415000	0.25817|0.25817	0.650000|0.650000	0.86243|0.86243	CTC|TCT	GOLGB1	-	NULL	ENSG00000173230		0.448	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	255	0.00	0	G	NM_004487		121435775	121435775	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	204	21.46	56	SNP	0.066	A
GPR142	350383	genome.wustl.edu	37	17	72368281	72368281	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:72368281G>A	ENST00000335666.4	+	4	979	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	311						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AACACTGGACGAGGTCCTCAA	0.592																																						dbGAP											0													167.0	123.0	138.0					17																	72368281		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.931G>A	17.37:g.72368281G>A	ENSP00000335158:p.Glu311Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.E311K	ENST00000335666.4	37	c.931	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	G	4.531	0.098513	0.08681	.	.	ENSG00000257008	ENST00000335666	T	0.37584	1.19	4.62	-4.3	0.03710	GPCR, rhodopsin-like superfamily (1);	0.811143	0.11637	N	0.544221	T	0.12050	0.0293	N	0.08118	0	0.22081	N	0.999375	B;B	0.29301	0.051;0.241	B;B	0.24269	0.006;0.052	T	0.34576	-0.9823	10	0.06236	T	0.91	-3.2777	7.8925	0.29686	0.6287:0.2363:0.1351:0.0	.	311;1273	Q7Z601;Q8NGB0	GP142_HUMAN;.	K	311	ENSP00000335158:E311K	ENSP00000335158:E311K	E	+	1	0	GPR142	69879876	0.000000	0.05858	0.510000	0.27712	0.121000	0.20230	-0.630000	0.05502	-0.737000	0.04824	-0.378000	0.06908	GAG	GPR142	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000257008		0.592	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	36	0.00	0	G	NM_181790		72368281	72368281	+1	no_errors	ENST00000335666	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	0.644	A
GPR85	54329	genome.wustl.edu	37	7	112723971	112723971	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:112723971C>A	ENST00000297146.3	-	3	1409	c.806G>T	c.(805-807)aGa>aTa	p.R269I	GPR85_ENST00000449591.1_Missense_Mutation_p.R269I|GPR85_ENST00000424100.1_Missense_Mutation_p.R269I|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000501255.2_Missense_Mutation_p.R269I	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	269					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CAATAGCCTTCTTCTGCCTGT	0.488																																						dbGAP											0													145.0	157.0	153.0					7																	112723971		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.806G>T	7.37:g.112723971C>A	ENSP00000297146:p.Arg269Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.R269I	ENST00000297146.3	37	c.806	CCDS5758.1	7	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249599	0.59212	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.65911	-0.6053	10	0.72032	D	0.01	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	269	P60893	GPR85_HUMAN	I	269	ENSP00000445808:R269I;ENSP00000297146:R269I;ENSP00000396763:R269I;ENSP00000401178:R269I	ENSP00000297146:R269I	R	-	2	0	GPR85	112511207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.050000	0.71063	2.765000	0.95021	0.650000	0.86243	AGA	GPR85	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000164604		0.488	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR85	HGNC	protein_coding	OTTHUMT00000346650.2	296	0.00	0	C			112723971	112723971	-1	no_errors	ENST00000297146	ensembl	human	known	69_37n	missense	167	23.04	50	SNP	1.000	A
GPRASP1	9737	genome.wustl.edu	37	X	101912418	101912418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chrX:101912418C>T	ENST00000361600.5	+	5	4378	c.3577C>T	c.(3577-3579)Cga>Tga	p.R1193*	GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.R1193*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.R1193*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.R1193*|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1193	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGATTTCATTCGAGATTCAGG	0.373																																						dbGAP											0													96.0	86.0	90.0					X																	101912418		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3577C>T	X.37:g.101912418C>T	ENSP00000355146:p.Arg1193*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43168|Q96LA1	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R1193*	ENST00000361600.5	37	c.3577	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	44	10.719250	0.99456	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.74	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2026	4.6769	0.12717	0.0:0.8131:0.0:0.1869	.	.	.	.	X	1193	.	ENSP00000355146:R1193X	R	+	1	2	GPRASP1	101799074	0.937000	0.31787	0.353000	0.25747	0.101000	0.19017	0.431000	0.21444	0.563000	0.29222	0.284000	0.19432	CGA	GPRASP1	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000198932		0.373	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	487	0.00	0	C	NM_014710		101912418	101912418	+1	no_errors	ENST00000361600	ensembl	human	known	69_37n	nonsense	264	27.27	99	SNP	0.347	T
HCN1	348980	genome.wustl.edu	37	5	45645560	45645560	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr5:45645560C>G	ENST00000303230.4	-	2	633	c.576G>C	c.(574-576)atG>atC	p.M192I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	192					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCTAAAATTCATGATCAGGT	0.378																																						dbGAP											0													95.0	92.0	93.0					5																	45645560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.576G>C	5.37:g.45645560C>G	ENSP00000307342:p.Met192Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.M192I	ENST00000303230.4	37	c.576	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528251	0.44969	.	.	ENSG00000164588	ENST00000303230	D	0.91464	-2.85	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.83326	0.5230	N	0.04245	-0.25	0.54753	D	0.999983	B	0.09022	0.002	B	0.28385	0.089	T	0.78484	-0.2186	10	0.52906	T	0.07	.	19.1028	0.93281	0.0:1.0:0.0:0.0	.	192	O60741	HCN1_HUMAN	I	192	ENSP00000307342:M192I	ENSP00000307342:M192I	M	-	3	0	HCN1	45681317	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.108000	0.41854	2.520000	0.84964	0.555000	0.69702	ATG	HCN1	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000164588		0.378	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	283	0.00	0	C	NM_021072		45645560	45645560	-1	no_errors	ENST00000303230	ensembl	human	known	69_37n	missense	268	20.06	68	SNP	1.000	G
HMGN2	3151	genome.wustl.edu	37	1	26799995	26799995	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:26799995G>A	ENST00000361427.5	+	2	131	c.37G>A	c.(37-39)Gat>Aat	p.D13N	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	13						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TGCTAAGGGAGATAAAGCAAA	0.423																																						dbGAP											0													95.0	98.0	97.0					1																	26799995		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.37G>A	1.37:g.26799995G>A	ENSP00000355228:p.Asp13Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VGD5|Q6FGI5|Q96C64	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.D13N	ENST00000361427.5	37	c.37	CCDS283.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267554	0.80469	.	.	ENSG00000198830	ENST00000361427	.	.	.	5.49	5.49	0.81192	.	0.825114	0.09544	U	0.787887	T	0.58750	0.2144	.	.	.	0.34399	D	0.695029	B	0.26002	0.139	B	0.30495	0.116	T	0.60762	-0.7199	8	0.54805	T	0.06	.	18.726	0.91714	0.0:0.0:1.0:0.0	.	13	P05204	HMGN2_HUMAN	N	13	.	ENSP00000355228:D13N	D	+	1	0	HMGN2	26672582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.593000	0.61034	2.744000	0.94065	0.650000	0.86243	GAT	HMGN2	-	pfam_HMGN_fam,smart_HMGN_fam	ENSG00000198830		0.423	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN2	HGNC	protein_coding	OTTHUMT00000009901.1	124	0.00	0	G	NM_005517		26799995	26799995	+1	no_errors	ENST00000361427	ensembl	human	known	69_37n	missense	34	32.00	16	SNP	1.000	A
HMGN2	3151	genome.wustl.edu	37	1	26800201	26800201	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:26800201G>A	ENST00000361427.5	+	3	162	c.68G>A	c.(67-69)aGa>aAa	p.R23K	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	23						chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TAGCCACAGAGAAGATCCGCG	0.373																																						dbGAP											0													169.0	160.0	163.0					1																	26800201		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.68G>A	1.37:g.26800201G>A	ENSP00000355228:p.Arg23Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VGD5|Q6FGI5|Q96C64	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.R23K	ENST00000361427.5	37	c.68	CCDS283.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.457807	0.96240	.	.	ENSG00000198830	ENST00000361427	.	.	.	5.5	5.5	0.81552	.	0.195389	0.28606	N	0.014760	T	0.59280	0.2182	.	.	.	0.39112	D	0.961483	B	0.30542	0.284	B	0.29663	0.105	T	0.62369	-0.6869	8	0.62326	D	0.03	.	18.7456	0.91791	0.0:0.0:1.0:0.0	.	23	P05204	HMGN2_HUMAN	K	23	.	ENSP00000355228:R23K	R	+	2	0	HMGN2	26672788	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.781000	0.75068	2.748000	0.94277	0.655000	0.94253	AGA	HMGN2	-	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	ENSG00000198830		0.373	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN2	HGNC	protein_coding	OTTHUMT00000009901.1	139	0.00	0	G	NM_005517		26800201	26800201	+1	no_errors	ENST00000361427	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	1.000	A
HOMER2	9455	genome.wustl.edu	37	15	83523513	83523513	+	Silent	SNP	G	G	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr15:83523513G>T	ENST00000304231.8	-	6	759	c.567C>A	c.(565-567)acC>acA	p.T189T	HOMER2_ENST00000450735.2_Silent_p.T178T|HOMER2_ENST00000399166.2_Intron|HOMER2_ENST00000426485.1_Intron	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	189					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						TCTCCCGAAGGGTCTGCAGCT	0.642																																						dbGAP											0													58.0	63.0	61.0					15																	83523513		2164	4261	6425	-	-	-	SO:0001819	synonymous_variant	0			AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.567C>A	15.37:g.83523513G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Silent	SNP	pfam_EVH1,smart_EVH1,pfscan_EVH1	p.T189	ENST00000304231.8	37	c.567	CCDS45334.1	15																																																																																			HOMER2	-	NULL	ENSG00000103942		0.642	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOMER2	HGNC	protein_coding	OTTHUMT00000418689.1	51	0.00	0	G			83523513	83523513	-1	no_errors	ENST00000304231	ensembl	human	known	69_37n	silent	20	44.44	16	SNP	0.985	T
HOOK1	51361	genome.wustl.edu	37	1	60324118	60324118	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:60324118G>C	ENST00000371208.3	+	13	1518	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.D379H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	421	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TGAGCAGCGTGATACTTTGAA	0.313																																						dbGAP											0													87.0	92.0	90.0					1																	60324118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1261G>C	1.37:g.60324118G>C	ENSP00000360252:p.Asp421His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin	p.D421H	ENST00000371208.3	37	c.1261	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313625	0.81358	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.38560	1.13;1.13	4.43	4.43	0.53597	.	0.146913	0.64402	D	0.000013	T	0.61899	0.2384	M	0.82517	2.595	0.80722	D	1	D	0.55385	0.971	P	0.56278	0.795	T	0.69855	-0.5032	10	0.72032	D	0.01	.	15.3769	0.74615	0.0:0.0:1.0:0.0	.	421	Q9UJC3	HOOK1_HUMAN	H	421;379	ENSP00000360252:D421H;ENSP00000378928:D379H	ENSP00000360252:D421H	D	+	1	0	HOOK1	60096706	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.290000	0.89925	2.287000	0.76781	0.462000	0.41574	GAT	HOOK1	-	pfam_HOOK	ENSG00000134709		0.313	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	68	0.00	0	G	NM_015888		60324118	60324118	+1	no_errors	ENST00000371208	ensembl	human	known	69_37n	missense	80	26.61	29	SNP	1.000	C
IGKV3-11	28914	genome.wustl.edu	37	2	89326781	89326781	+	RNA	SNP	T	T	C	rs576234259	byFrequency	TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:89326781T>C	ENST00000483158.1	-	0	278									immunoglobulin kappa variable 3-11																		CTGGCTGGGATGCCAGTGGCC	0.547																																						dbGAP											0													69.0	67.0	68.0					2																	89326781		1864	4089	5953	-	-	-			0			X01668		2p11.2	2012-02-08			ENSG00000241351	ENSG00000241351		"""Immunoglobulins / IGK locus"""	5815	other	immunoglobulin gene							Standard	NG_000834		Approved		uc021vkj.1		OTTHUMG00000151633		2.37:g.89326781T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I78V	ENST00000483158.1	37	c.232		2																																																																																			IGKV3-11	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000241351		0.547	IGKV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3-11	HGNC	IG_V_gene	OTTHUMT00000323357.1	322	0.31	1	T	NG_000834		89326781	89326781	-1	no_stop_codon	ENST00000483158	ensembl	human	known	69_37n	missense	240	27.71	92	SNP	0.796	C
IL17RA	23765	genome.wustl.edu	37	22	17579742	17579742	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr22:17579742G>C	ENST00000319363.6	+	4	521	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	130					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CGTCAGGTTTGAGTTTCTGTC	0.517																																						dbGAP											0													157.0	124.0	135.0					22																	17579742		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.388G>C	22.37:g.17579742G>C	ENSP00000320936:p.Glu130Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43844|Q20WK1	Missense_Mutation	SNP	pfam_SEFIR	p.E130Q	ENST00000319363.6	37	c.388	CCDS13739.1	22	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588741	0.28357	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.00509	6.91	5.84	-3.8	0.04307	.	0.797796	0.11684	N	0.539564	T	0.00300	0.0009	L	0.34521	1.04	0.09310	N	1	B;B	0.27351	0.113;0.176	B;B	0.15052	0.012;0.008	T	0.34079	-0.9843	10	0.29301	T	0.29	-12.5775	6.5746	0.22557	0.432:0.1823:0.3856:0.0	.	130;130	D3YTB4;Q96F46	.;I17RA_HUMAN	Q	130	ENSP00000320936:E130Q	ENSP00000320936:E130Q	E	+	1	0	IL17RA	15959742	0.631000	0.27164	0.035000	0.18076	0.599000	0.36880	0.267000	0.18552	-0.389000	0.07786	0.563000	0.77884	GAG	IL17RA	-	NULL	ENSG00000177663		0.517	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RA	HGNC	protein_coding	OTTHUMT00000315820.1	61	0.00	0	G	NM_014339		17579742	17579742	+1	no_errors	ENST00000319363	ensembl	human	known	69_37n	missense	28	33.33	14	SNP	0.009	C
IMPG2	50939	genome.wustl.edu	37	3	100949976	100949976	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr3:100949976C>T	ENST00000193391.7	-	16	3434	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1083	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding. {ECO:0000250}.				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)	p.E1083K(2)		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)	CACCAGTTCTCACCCACCCGG	0.507																																						dbGAP											2	Substitution - Missense(2)	lung(2)											196.0	167.0	177.0					3																	100949976		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.3247G>A	3.37:g.100949976C>T	ENSP00000193391:p.Glu1083Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1083K	ENST00000193391.7	37	c.3247	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724715	0.68959	.	.	ENSG00000081148	ENST00000193391	T	0.26067	1.76	5.91	4.06	0.47325	Epidermal growth factor-like, type 3 (1);	0.430497	0.23362	N	0.049011	T	0.26412	0.0645	L	0.54323	1.7	0.42318	D	0.992244	B;B	0.30937	0.301;0.301	B;B	0.30646	0.118;0.118	T	0.03394	-1.1041	10	0.48119	T	0.1	-2.9048	12.9447	0.58365	0.1326:0.7468:0.1206:0.0	.	1083;1083	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	K	1083	ENSP00000193391:E1083K	ENSP00000193391:E1083K	E	-	1	0	IMPG2	102432666	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	3.726000	0.54977	0.768000	0.33290	0.650000	0.86243	GAG	IMPG2	-	NULL	ENSG00000081148		0.507	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	184	0.00	0	C			100949976	100949976	-1	no_errors	ENST00000193391	ensembl	human	known	69_37n	missense	291	17.98	64	SNP	1.000	T
INTS2	57508	genome.wustl.edu	37	17	59949625	59949625	+	Splice_Site	SNP	C	C	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:59949625C>A	ENST00000444766.3	-	20	2878		c.e20+1		INTS2_ENST00000251334.6_Splice_Site|Y_RNA_ENST00000365491.1_RNA	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2						snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GCAAAATTTACCTGAGCGGCC	0.393																																						dbGAP											0													62.0	55.0	57.0					17																	59949625		1817	4076	5893	-	-	-	SO:0001630	splice_region_variant	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2802+1G>T	17.37:g.59949625C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD3	Splice_Site	SNP	-	e20+1	ENST00000444766.3	37	c.2802+1	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328650	0.81690	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.077	0.89430	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS2	57304407	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.024000	0.76443	2.575000	0.86900	0.552000	0.68991	.	INTS2	-	-	ENSG00000108506		0.393	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	81	0.00	0	C	NM_020748	Intron	59949625	59949625	-1	no_errors	ENST00000444766	ensembl	human	known	69_37n	splice_site	74	53.16	84	SNP	1.000	A
ITGB6	3694	genome.wustl.edu	37	2	160993970	160993970	+	Silent	SNP	C	C	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:160993970C>A	ENST00000283249.2	-	10	1872	c.1635G>T	c.(1633-1635)gtG>gtT	p.V545V	ITGB6_ENST00000428609.2_Silent_p.V503V|ITGB6_ENST00000409967.2_Silent_p.V545V|ITGB6_ENST00000409872.1_Silent_p.V545V	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	545	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CTTTGTGTCTCACGCAGGAGA	0.522																																						dbGAP											0													93.0	88.0	90.0					2																	160993970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1635G>T	2.37:g.160993970C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.V545	ENST00000283249.2	37	c.1635	CCDS2212.1	2																																																																																			ITGB6	-	pirsf_Integrin_bsu	ENSG00000115221		0.522	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	132	0.75	1	C	NM_000888		160993970	160993970	-1	no_errors	ENST00000283249	ensembl	human	known	69_37n	silent	139	24.32	45	SNP	1.000	A
KANK4	163782	genome.wustl.edu	37	1	62713143	62713144	+	Splice_Site	INS	-	-	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:62713143_62713144insT	ENST00000371153.4	-	9	3261_3262		c.e9+1		KANK4_ENST00000371150.1_Splice_Site|KANK4_ENST00000354381.3_Splice_Site|KANK4_ENST00000317477.4_Splice_Site	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4							cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTAAGTCTCACCTTGTCAGTCA	0.594																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2883+1->A	1.37:g.62713143_62713144insT		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Frame_Shift_Ins	INS	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A961fs	ENST00000371153.4	37	c.2884_2883	CCDS620.1	1																																																																																			KANK4	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000132854		0.594	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	61	0.00	0	-	NM_181712	Intron	62713143	62713144	-1	no_errors	ENST00000371153	ensembl	human	known	69_37n	frame_shift_ins	47	12.96	7	INS	1.000:1.000	T
KCNT2	343450	genome.wustl.edu	37	1	196274447	196274447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:196274447C>A	ENST00000294725.9	-	22	3427	c.2512G>T	c.(2512-2514)Gag>Tag	p.E838*	KCNT2_ENST00000609185.1_Nonsense_Mutation_p.E764*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.E764*|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.E814*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	838					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGAGTTAGCTCTGTGATAATA	0.353																																						dbGAP											0													127.0	117.0	120.0					1																	196274447		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2512G>T	1.37:g.196274447C>A	ENSP00000294725:p.Glu838*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.E838*	ENST00000294725.9	37	c.2512	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.104993	0.98657	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.0643	17.8797	0.88837	0.0:1.0:0.0:0.0	.	.	.	.	X	814;764;838	.	ENSP00000294725:E838X	E	-	1	0	KCNT2	194541070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.525000	0.85131	0.650000	0.86243	GAG	KCNT2	-	NULL	ENSG00000162687		0.353	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	84	0.00	0	C	NM_198503		196274447	196274447	-1	no_errors	ENST00000294725	ensembl	human	known	69_37n	nonsense	125	22.84	37	SNP	1.000	A
CCDC183	84960	genome.wustl.edu	37	9	139701324	139701324	+	Intron	DEL	C	C	-			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:139701324delC	ENST00000338005.6	+	12	1424				RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000311502.7_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000357466.2_5'Flank|RABL6_ENST00000371663.4_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN												biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GAGGAGGTAGCCCCGGGCTGG	0.627																																						dbGAP											0													32.0	38.0	36.0					9																	139701324		2125	4227	6352	-	-	-	SO:0001627	intron_variant	0																														ENST00000338005.6:c.1389+5C>-	9.37:g.139701324delC		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	RNA	DEL	-	NULL	ENST00000338005.6	37	NULL	CCDS43906.1	9																																																																																			KIAA1984-AS1	-	-	ENSG00000228544		0.627	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984-AS1	HGNC	protein_coding	OTTHUMT00000354899.1	24	0.00	0	C			139701324	139701324	-1	no_errors	ENST00000414656	ensembl	human	known	69_37n	rna	14	33.33	7	DEL	0.017	-
KIF1B	23095	genome.wustl.edu	37	1	10412697	10412697	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:10412697C>T	ENST00000377086.1	+	38	4160	c.3958C>T	c.(3958-3960)Cgg>Tgg	p.R1320W	KIF1B_ENST00000377081.1_Missense_Mutation_p.R1320W|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.R1274W			O60333	KIF1B_HUMAN	kinesin family member 1B	1320					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)	p.R1274W(1)		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)		AGGTCGTATTCGGAATAAGCC	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)											176.0	173.0	174.0					1																	10412697		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.3958C>T	1.37:g.10412697C>T	ENSP00000366290:p.Arg1320Trp	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.R1274W	ENST00000377086.1	37	c.3820		1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799773	0.70567	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;D;D	0.81659	-1.42;-1.52;-1.52	5.76	3.3	0.37823	.	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	M	0.88640	2.97	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;1.0;0.999;0.954;0.992	D	0.91329	0.5088	10	0.87932	D	0	.	12.5383	0.56154	0.5943:0.4057:0.0:0.0	.	1306;1280;1320;1294;1320;1274	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	W	1320;1274;1320;1320	ENSP00000263934:R1274W;ENSP00000366290:R1320W;ENSP00000366284:R1320W	ENSP00000263934:R1274W	R	+	1	2	KIF1B	10335284	0.994000	0.37717	0.999000	0.59377	0.983000	0.72400	1.158000	0.31737	1.004000	0.39156	-0.266000	0.10368	CGG	KIF1B	-	pfam_Kinesin-like	ENSG00000054523		0.398	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	331	0.00	0	C			10412697	10412697	+1	no_errors	ENST00000263934	ensembl	human	known	69_37n	missense	189	42.42	140	SNP	0.998	T
KLF3	51274	genome.wustl.edu	37	4	38690278	38690278	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr4:38690278G>A	ENST00000261438.5	+	3	435	c.130G>A	c.(130-132)Gag>Aag	p.E44K	KLF3_ENST00000514033.1_Missense_Mutation_p.E44K	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	44	Pro-rich.|Repressor domain.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACCATTGCCTGAGAAGTTCTT	0.483																																						dbGAP											0													73.0	71.0	72.0					4																	38690278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.130G>A	4.37:g.38690278G>A	ENSP00000261438:p.Glu44Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E44K	ENST00000261438.5	37	c.130	CCDS3444.1	4	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937489	0.34189	.	.	ENSG00000109787	ENST00000261438;ENST00000514033	T;T	0.45276	3.18;0.9	6.0	4.99	0.66335	.	0.206177	0.42420	D	0.000712	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.04976	-1.0914	10	0.48119	T	0.1	.	6.9782	0.24688	0.2348:0.0:0.7652:0.0	.	44	P57682	KLF3_HUMAN	K	44	ENSP00000261438:E44K;ENSP00000421252:E44K	ENSP00000261438:E44K	E	+	1	0	KLF3	38366673	0.910000	0.30920	0.259000	0.24435	0.236000	0.25371	3.218000	0.51192	2.848000	0.98002	0.655000	0.94253	GAG	KLF3	-	NULL	ENSG00000109787		0.483	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2	196	0.00	0	G			38690278	38690278	+1	no_errors	ENST00000261438	ensembl	human	known	69_37n	missense	63	32.26	30	SNP	0.261	A
KLHL38	340359	genome.wustl.edu	37	8	124658251	124658251	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr8:124658251G>C	ENST00000325995.7	-	3	1497	c.1474C>G	c.(1474-1476)Ctt>Gtt	p.L492V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	492										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCATAAGCAAGAATCCTCCTT	0.502																																						dbGAP											0													66.0	69.0	68.0					8																	124658251		2111	4241	6352	-	-	-	SO:0001583	missense	0				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1474C>G	8.37:g.124658251G>C	ENSP00000321475:p.Leu492Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L492V	ENST00000325995.7	37	c.1474	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.140726	0.01728	.	.	ENSG00000175946	ENST00000325995	T	0.78126	-1.15	5.18	4.31	0.51392	Kelch-type beta propeller (1);	0.052760	0.64402	D	0.000001	T	0.61400	0.2344	N	0.21282	0.65	0.29441	N	0.85918	B	0.11235	0.004	B	0.14023	0.01	T	0.53173	-0.8476	10	0.29301	T	0.29	.	7.3071	0.26453	0.0855:0.0:0.6343:0.2803	.	492	Q2WGJ6	KLH38_HUMAN	V	492	ENSP00000321475:L492V	ENSP00000321475:L492V	L	-	1	0	KLHL38	124727432	1.000000	0.71417	0.890000	0.34922	0.421000	0.31385	4.767000	0.62286	1.197000	0.43143	-0.391000	0.06502	CTT	KLHL38	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.502	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	203	0.00	0	G			124658251	124658251	-1	no_errors	ENST00000325995	ensembl	human	known	69_37n	missense	91	31.58	42	SNP	0.994	C
KRTAP4-12	83755	genome.wustl.edu	37	17	39280215	39280215	+	Missense_Mutation	SNP	C	C	G	rs374651490		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:39280215C>G	ENST00000394014.1	-	1	204	c.160G>C	c.(160-162)Gtg>Ctg	p.V54L		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	54	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGACAGCACACAGACTGGCAG	0.687																																						dbGAP											0													29.0	53.0	46.0					17																	39280215		1921	4266	6187	-	-	-	SO:0001583	missense	0			AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.160G>C	17.37:g.39280215C>G	ENSP00000377582:p.Val54Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMC5|Q495I0	Missense_Mutation	SNP	pfam_Keratin-assoc	p.V54L	ENST00000394014.1	37	c.160	CCDS32649.1	17	.	.	.	.	.	.	.	.	.	.	.	14.04	2.417911	0.42918	.	.	ENSG00000213416	ENST00000394014	T	0.01430	4.9	4.83	-2.17	0.07059	.	11.774600	0.00508	U	0.000165	T	0.02571	0.0078	L	0.55481	1.735	0.09310	N	1	B	0.29481	0.245	B	0.31946	0.138	T	0.47341	-0.9125	10	0.45353	T	0.12	.	9.5804	0.39484	0.0:0.5105:0.0:0.4895	.	54	Q9BQ66	KR412_HUMAN	L	54	ENSP00000377582:V54L	ENSP00000377582:V54L	V	-	1	0	KRTAP4-12	36533741	0.000000	0.05858	0.001000	0.08648	0.157000	0.22087	-2.211000	0.01226	-0.376000	0.07943	0.455000	0.32223	GTG	KRTAP4-12	-	NULL	ENSG00000213416		0.687	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-12	HGNC	protein_coding	OTTHUMT00000257777.1	92	0.00	0	C			39280215	39280215	-1	no_errors	ENST00000394014	ensembl	human	known	69_37n	missense	50	26.47	18	SNP	0.002	G
LIFR	3977	genome.wustl.edu	37	5	38504110	38504110	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr5:38504110C>T	ENST00000263409.4	-	10	1567	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	LIFR_ENST00000453190.2_Missense_Mutation_p.E469K|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	469	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTCTTAATTTCAATTTCACAT	0.289			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	dbGAP		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													52.0	62.0	58.0					5																	38504110		2203	4284	6487	-	-	-	SO:0001583	missense	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1405G>A	5.37:g.38504110C>T	ENSP00000263409:p.Glu469Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LCD9	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E469K	ENST00000263409.4	37	c.1405	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619579	0.46736	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.57752	0.38;0.38	5.65	3.81	0.43845	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152639	0.44688	N	0.000424	T	0.48732	0.1516	M	0.73319	2.225	0.45025	D	0.998044	B	0.20988	0.05	B	0.18871	0.023	T	0.37865	-0.9687	10	0.26408	T	0.33	-17.6541	9.936	0.41552	0.0:0.8296:0.0:0.1704	.	469	P42702	LIFR_HUMAN	K	469	ENSP00000263409:E469K;ENSP00000398368:E469K	ENSP00000263409:E469K	E	-	1	0	LIFR	38539867	1.000000	0.71417	0.998000	0.56505	0.735000	0.41995	1.646000	0.37249	0.674000	0.31244	0.650000	0.86243	GAA	LIFR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113594		0.289	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	144	0.00	0	C	NM_002310		38504110	38504110	-1	no_errors	ENST00000263409	ensembl	human	known	69_37n	missense	126	25.88	44	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141458082	141458082	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:141458082C>T	ENST00000389484.3	-	41	7507	c.6536G>A	c.(6535-6537)gGa>gAa	p.G2179E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2179	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAAGTAACTCCATCTTCTGC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													98.0	99.0	98.0					2																	141458082		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6536G>A	2.37:g.141458082C>T	ENSP00000374135:p.Gly2179Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G2179E	ENST00000389484.3	37	c.6536	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118767	0.77323	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96554	-4.05	4.47	3.6	0.41247	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.94594	0.8258	M	0.69248	2.105	0.49051	D	0.999745	B	0.31054	0.306	B	0.31812	0.136	D	0.92438	0.5959	10	0.36615	T	0.2	.	12.7123	0.57096	0.0:0.9185:0.0:0.0815	.	2179	Q9NZR2	LRP1B_HUMAN	E	2179;2117	ENSP00000374135:G2179E	ENSP00000374135:G2179E	G	-	2	0	LRP1B	141174552	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.988000	0.70579	0.991000	0.38814	0.585000	0.79938	GGA	LRP1B	-	smart_EGF-like	ENSG00000168702		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	358	0.00	0	C	NM_018557		141458082	141458082	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	332	28.23	131	SNP	1.000	T
LZTS1	11178	genome.wustl.edu	37	8	20110307	20110307	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr8:20110307C>G	ENST00000381569.1	-	3	1492	c.1135G>C	c.(1135-1137)Gag>Cag	p.E379Q	LZTS1_ENST00000265801.6_Missense_Mutation_p.E379Q|LZTS1_ENST00000522290.1_Missense_Mutation_p.E379Q			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	379					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)		CACTGGGTCTCCTCCAGCGCG	0.647																																						dbGAP											0													31.0	33.0	33.0					8																	20110307		2202	4300	6502	-	-	-	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.1135G>C	8.37:g.20110307C>G	ENSP00000370981:p.Glu379Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	pfam_Fez1	p.E379Q	ENST00000381569.1	37	c.1135	CCDS6015.1	8	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404856	0.83230	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.46819	1.12;1.12;0.86	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.73836	-0.3857	10	0.49607	T	0.09	-51.3554	18.1672	0.89732	0.0:1.0:0.0:0.0	.	379;379	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	Q	379	ENSP00000370981:E379Q;ENSP00000265801:E379Q;ENSP00000429263:E379Q	ENSP00000265801:E379Q	E	-	1	0	LZTS1	20154587	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.637000	0.89404	0.561000	0.74099	GAG	LZTS1	-	NULL	ENSG00000061337		0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	42	0.00	0	C	NM_021020		20110307	20110307	-1	no_errors	ENST00000265801	ensembl	human	known	69_37n	missense	18	20.83	5	SNP	1.000	G
MAGEB17	645864	genome.wustl.edu	37	X	16189508	16189508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chrX:16189508C>T	ENST00000400004.2	+	2	1355	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	MAGEB17_ENST00000400003.1_Nonsense_Mutation_p.Q335*|RP11-431J24.2_ENST00000435789.1_RNA	NM_001277307.1	NP_001264236.1	A8MXT2	MAGBH_HUMAN	melanoma antigen family B, 17	335	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.																CAGGTCCTTTCAGCCCTAGTG	0.567																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0				CCDS59524.1	Xp22.2	2010-05-26	2005-11-07		ENSG00000182798	ENSG00000182798			17418	protein-coding gene	gene with protein product		300763	"""melanoma antigen family B, 17 (pseudogene)"""			11454705	Standard	NM_001277307		Approved		uc031tgu.1	A8MXT2	OTTHUMG00000021188	ENST00000400004.2:c.1003C>T	X.37:g.16189508C>T	ENSP00000382884:p.Gln335*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE98	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Q335*	ENST00000400004.2	37	c.1003	CCDS59524.1	X	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804453	0.70682	.	.	ENSG00000182798	ENST00000400004;ENST00000400003	.	.	.	2.12	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	7.1009	0.25336	0.0:1.0:0.0:0.0	.	.	.	.	X	335	.	ENSP00000382883:Q335X	Q	+	1	0	MAGEB17	16099429	0.000000	0.05858	0.014000	0.15608	0.007000	0.05969	-0.029000	0.12329	1.359000	0.45940	0.513000	0.50165	CAG	MAGEB17	-	NULL	ENSG00000182798		0.567	MAGEB17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB17	HGNC	protein_coding	OTTHUMT00000251018.2	14	0.00	0	C	XM_066701		16189508	16189508	+1	no_errors	ENST00000400003	ensembl	human	known	69_37n	nonsense	9	35.71	5	SNP	0.014	T
MAGEB3	4114	genome.wustl.edu	37	X	30254772	30254772	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chrX:30254772C>T	ENST00000361644.2	+	5	1468	c.731C>T	c.(730-732)cCc>cTc	p.P244L		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	244	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TTTGGGGAGCCCAGAAAGCTC	0.453																																						dbGAP											0													53.0	47.0	49.0					X																	30254772		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.731C>T	X.37:g.30254772C>T	ENSP00000355198:p.Pro244Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P244L	ENST00000361644.2	37	c.731	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378275	0.61735	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04862	3.54;3.54	4.3	4.3	0.51218	.	0.164356	0.37530	U	0.002045	T	0.27933	0.0688	M	0.89095	3.005	0.36453	D	0.866196	D	0.89917	1.0	D	0.87578	0.998	T	0.32719	-0.9896	10	0.87932	D	0	.	11.021	0.47718	0.0:1.0:0.0:0.0	.	244	O15480	MAGB3_HUMAN	L	244	ENSP00000368271:P244L;ENSP00000355198:P244L	ENSP00000355198:P244L	P	+	2	0	MAGEB3	30164693	0.776000	0.28616	0.929000	0.37066	0.710000	0.40934	1.792000	0.38754	2.367000	0.80283	0.600000	0.82982	CCC	MAGEB3	-	pfam_MAGE,pfscan_MAGE	ENSG00000198798		0.453	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	114	0.00	0	C	NM_002365		30254772	30254772	+1	no_errors	ENST00000361644	ensembl	human	known	69_37n	missense	152	26.79	56	SNP	0.905	T
MED12	9968	genome.wustl.edu	37	X	70357674	70357674	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chrX:70357674C>T	ENST00000374080.3	+	41	5957	c.5925C>T	c.(5923-5925)agC>agT	p.S1975S	MED12_ENST00000333646.6_Silent_p.S1978S|MED12_ENST00000374102.1_Silent_p.S1974S			Q93074	MED12_HUMAN	mediator complex subunit 12	1975	Gln-rich.|Interaction with CTNNB1 and GLI3.				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)					CTTACCAGAGCACCCACCCTT	0.577			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													55.0	57.0	56.0					X																	70357674		2063	4170	6233	-	-	-	SO:0001819	synonymous_variant	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.5925C>T	X.37:g.70357674C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.S1978	ENST00000374080.3	37	c.5934	CCDS43970.1	X																																																																																			MED12	-	pfam_Mediator_Med12_catenin-bd	ENSG00000184634		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	105	0.00	0	C	NM_005120		70357674	70357674	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	silent	64	21.95	18	SNP	0.944	T
METTL7B	196410	genome.wustl.edu	37	12	56075783	56075783	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr12:56075783G>A	ENST00000394252.3	+	1	454	c.245G>A	c.(244-246)gGa>gAa	p.G82E		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	82							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						TGCGGAACCGGAGCCAACTTT	0.572																																						dbGAP											0													61.0	59.0	60.0					12																	56075783		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.245G>A	12.37:g.56075783G>A	ENSP00000377796:p.Gly82Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K247|Q8WUI1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.G82E	ENST00000394252.3	37	c.245	CCDS8887.2	12	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585211	0.86748	.	.	ENSG00000170439	ENST00000394252	T	0.46451	0.87	4.96	4.96	0.65561	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88091	0.2813	10	0.87932	D	0	-31.1857	15.78	0.78252	0.0:0.0:1.0:0.0	.	82	Q6UX53	MET7B_HUMAN	E	82	ENSP00000377796:G82E	ENSP00000377796:G82E	G	+	2	0	METTL7B	54362050	1.000000	0.71417	0.283000	0.24790	0.851000	0.48451	8.623000	0.90957	2.565000	0.86533	0.655000	0.94253	GGA	METTL7B	-	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase	ENSG00000170439		0.572	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL7B	HGNC	protein_coding	OTTHUMT00000327271.1	98	0.00	0	G	NM_152637		56075783	56075783	+1	no_errors	ENST00000394252	ensembl	human	known	69_37n	missense	56	18.84	13	SNP	0.991	A
KMT2E	55904	genome.wustl.edu	37	7	104752681	104752681	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:104752681G>A	ENST00000311117.3	+	27	5023	c.4478G>A	c.(4477-4479)cGa>cAa	p.R1493Q	KMT2E_ENST00000334877.4_Missense_Mutation_p.R1451Q|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.R548Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.R1493Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1493	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACACCTCAGCGAGAGCCTCAA	0.473																																						dbGAP											0													99.0	96.0	97.0					7																	104752681		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4478G>A	7.37:g.104752681G>A	ENSP00000312379:p.Arg1493Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.R1493Q	ENST00000311117.3	37	c.4478	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673944	0.67928	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.94862	-3.45;-3.54;-3.45;0.25	3.75	3.75	0.43078	.	0.000000	0.42053	D	0.000768	D	0.93680	0.7981	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.968	D	0.92293	0.5843	10	0.23891	T	0.37	.	15.94	0.79747	0.0:0.0:1.0:0.0	.	1413;1493	F8W6H1;Q8IZD2	.;MLL5_HUMAN	Q	1493;1493;1451;1413;1493;548	ENSP00000312379:R1493Q;ENSP00000335599:R1451Q;ENSP00000257745:R1493Q;ENSP00000333986:R548Q	ENSP00000257745:R1493Q	R	+	2	0	MLL5	104539917	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	5.001000	0.63946	1.801000	0.52704	0.555000	0.69702	CGA	MLL5	-	NULL	ENSG00000005483		0.473	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	206	0.00	0	G			104752681	104752681	+1	no_errors	ENST00000257745	ensembl	human	known	69_37n	missense	169	26.41	61	SNP	1.000	A
MGAM	8972	genome.wustl.edu	37	7	141795512	141795512	+	Splice_Site	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:141795512G>C	ENST00000549489.2	+	41	5013	c.4918G>C	c.(4918-4920)Gag>Cag	p.E1640Q	MGAM_ENST00000475668.2_Splice_Site_p.E2536Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1640	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGCTCCATGAGTGAGTGTC	0.468																																						dbGAP											0													183.0	169.0	173.0					7																	141795512		1981	4144	6125	-	-	-	SO:0001630	splice_region_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4919+1G>C	7.37:g.141795512G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.E1640Q	ENST00000549489.2	37	c.4918	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078790	0.76528	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.92545	-3.06	5.57	5.57	0.84162	.	.	.	.	.	D	0.96506	0.8860	M	0.84585	2.705	0.42879	D	0.994166	D	0.89917	1.0	D	0.80764	0.994	D	0.96873	0.9641	9	0.87932	D	0	.	18.6929	0.91589	0.0:0.0:1.0:0.0	.	1640	O43451	MGA_HUMAN	Q	1640;2537	ENSP00000447378:E1640Q	ENSP00000373973:E1640Q	E	+	1	0	MGAM	141441981	1.000000	0.71417	0.991000	0.47740	0.275000	0.26752	9.690000	0.98676	2.780000	0.95670	0.655000	0.94253	GAG	MGAM	-	pfam_Glyco_hydro_31	ENSG00000257335		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	256	0.00	0	G		Missense_Mutation	141795512	141795512	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	missense	125	28.25	50	SNP	1.000	C
MUC16	94025	genome.wustl.edu	37	19	9056568	9056568	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr19:9056568C>T	ENST00000397910.4	-	3	31081	c.30878G>A	c.(30877-30879)gGa>gAa	p.G10293E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10295	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCGTGGAACTCCAGTGGTGGC	0.517																																						dbGAP											0													104.0	105.0	104.0					19																	9056568		2078	4205	6283	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30878G>A	19.37:g.9056568C>T	ENSP00000381008:p.Gly10293Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.G10293E	ENST00000397910.4	37	c.30878	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	6.860	0.528087	0.13127	.	.	ENSG00000181143	ENST00000397910	T	0.03553	3.89	3.38	1.12	0.20585	.	.	.	.	.	T	0.06416	0.0165	N	0.19112	0.55	.	.	.	D	0.71674	0.998	D	0.71656	0.974	T	0.33904	-0.9850	8	0.87932	D	0	.	4.4884	0.11801	0.0:0.6393:0.2313:0.1294	.	10293	B5ME49	.	E	10293	ENSP00000381008:G10293E	ENSP00000381008:G10293E	G	-	2	0	MUC16	8917568	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.645000	0.24782	0.380000	0.24823	0.461000	0.40582	GGA	MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	133	0.00	0	C	NM_024690		9056568	9056568	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	102	25.55	35	SNP	0.000	T
MYO7B	4648	genome.wustl.edu	37	2	128384652	128384653	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:128384652_128384653delGT	ENST00000409816.2	+	30	4272_4273	c.4240_4241delGT	c.(4240-4242)gtcfs	p.V1414fs	MYO7B_ENST00000428314.1_Frame_Shift_Del_p.V1414fs|MYO7B_ENST00000389524.4_Frame_Shift_Del_p.V1414fs|MYO7B_ENST00000409090.1_Frame_Shift_Del_p.V267fs|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1414	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTCTTCGAAGTCATCACACTC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4240_4241delGT	2.37:g.128384652_128384653delGT	ENSP00000386461:p.Val1414fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.V1414fs	ENST00000409816.2	37	c.4240_4241	CCDS46405.1	2																																																																																			MYO7B	-	pfscan_FERM_domain	ENSG00000169994		0.634	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	14	0.00	0	GT	XM_291001		128384652	128384653	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	frame_shift_del	65	34.65	35	DEL	1.000:1.000	-
MYO7B	4648	genome.wustl.edu	37	2	128384663	128384663	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:128384663delC	ENST00000409816.2	+	30	4283	c.4251delC	c.(4249-4251)ctcfs	p.L1417fs	MYO7B_ENST00000428314.1_Frame_Shift_Del_p.L1417fs|MYO7B_ENST00000389524.4_Frame_Shift_Del_p.L1417fs|MYO7B_ENST00000409090.1_Frame_Shift_Del_p.L270fs|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1417	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCATCACACTCTCAGGTAATG	0.652																																						dbGAP											0													20.0	22.0	21.0					2																	128384663		2032	4178	6210	-	-	-	SO:0001589	frameshift_variant	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4251delC	2.37:g.128384663delC	ENSP00000386461:p.Leu1417fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.S1418fs	ENST00000409816.2	37	c.4251	CCDS46405.1	2																																																																																			MYO7B	-	pfscan_FERM_domain	ENSG00000169994		0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	14	0.00	0	C	XM_291001		128384663	128384663	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	frame_shift_del	59	36.84	35	DEL	0.973	-
MYOM3	127294	genome.wustl.edu	37	1	24387551	24387551	+	Splice_Site	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:24387551C>G	ENST00000374434.3	-	35	4155	c.3993G>C	c.(3991-3993)aaG>aaC	p.K1331N	MYOM3_ENST00000330966.7_Splice_Site_p.K1334N|MYOM3_ENST00000338909.5_Splice_Site_p.K224N|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1331						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCGACTTACTCTTCTCGATGA	0.493																																						dbGAP											0													74.0	74.0	74.0					1																	24387551		1910	4135	6045	-	-	-	SO:0001630	splice_region_variant	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3994+1G>C	1.37:g.24387551C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	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.K1334N	ENST00000374434.3	37	c.4002	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225168	0.58668	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966	T;T;T	0.59638	0.25;0.26;0.25	4.56	4.56	0.56223	.	0.268028	0.35067	N	0.003468	T	0.55800	0.1943	M	0.75615	2.305	0.80722	D	1	P;B	0.52692	0.955;0.003	B;B	0.40228	0.323;0.014	T	0.62412	-0.6860	10	0.41790	T	0.15	.	12.8419	0.57809	0.0:1.0:0.0:0.0	.	1331;224	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	N	224;1331;1334	ENSP00000342689:K224N;ENSP00000363557:K1331N;ENSP00000332670:K1334N	ENSP00000332670:K1334N	K	-	3	2	MYOM3	24260138	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.263000	0.33004	2.079000	0.62486	0.655000	0.94253	AAG	MYOM3	-	NULL	ENSG00000142661		0.493	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	125	0.00	0	C	NM_152372	Missense_Mutation	24387551	24387551	-1	no_errors	ENST00000330966	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	1.000	G
NBEA	26960	genome.wustl.edu	37	13	35733166	35733166	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr13:35733166C>T	ENST00000400445.3	+	22	3392	c.2858C>T	c.(2857-2859)gCt>gTt	p.A953V	NBEA_ENST00000379939.2_Missense_Mutation_p.A953V|NBEA_ENST00000310336.4_Missense_Mutation_p.A953V|NBEA_ENST00000540320.1_Missense_Mutation_p.A953V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	953					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACTTATGAAGCTCATAAGGAA	0.313																																						dbGAP											0													52.0	46.0	48.0					13																	35733166		1815	4083	5898	-	-	-	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2858C>T	13.37:g.35733166C>T	ENSP00000383295:p.Ala953Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.A953V	ENST00000400445.3	37	c.2858	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688206	0.48097	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	N	0.22421	0.69	0.80722	D	1	B	0.26744	0.158	B	0.19391	0.025	T	0.04041	-1.0982	10	0.31617	T	0.26	.	18.9361	0.92586	0.0:1.0:0.0:0.0	.	953	Q5T321	.	V	953	ENSP00000440951:A953V;ENSP00000383295:A953V;ENSP00000369271:A953V;ENSP00000308534:A953V	ENSP00000308534:A953V	A	+	2	0	NBEA	34631166	1.000000	0.71417	0.993000	0.49108	0.914000	0.54420	7.818000	0.86416	2.479000	0.83701	0.591000	0.81541	GCT	NBEA	-	superfamily_ARM-type_fold	ENSG00000172915		0.313	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		162	0.00	0	C	NM_015678		35733166	35733166	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	missense	171	20.09	43	SNP	1.000	T
NF1	4763	genome.wustl.edu	37	17	29685607	29685608	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:29685607_29685608insC	ENST00000358273.4	+	55	8463_8464	c.8080_8081insC	c.(8080-8082)tccfs	p.S2694fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.S2673fs|NF1_ENST00000444181.2_Frame_Shift_Ins_p.S487fs|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2694					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCATGAAGAATCCCCACCACAA	0.411			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8084dupC	17.37:g.29685611_29685611dupC	ENSP00000351015:p.Ser2694fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.P2696fs	ENST00000358273.4	37	c.8080_8081	CCDS42292.1	17																																																																																			NF1	-	NULL	ENSG00000196712		0.411	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	151	0.00	0	-	NM_000267		29685607	29685608	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	frame_shift_ins	110	29.94	47	INS	1.000:1.000	C
NLRP4	147945	genome.wustl.edu	37	19	56379195	56379195	+	Silent	SNP	T	T	A	rs572367648	byFrequency	TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr19:56379195T>A	ENST00000301295.6	+	6	2729	c.2307T>A	c.(2305-2307)ctT>ctA	p.L769L	NLRP4_ENST00000587891.1_Silent_p.L694L|NLRP4_ENST00000346986.5_Intron	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	769					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCGTGCCCCTTTTGTGTGAAG	0.532													T|||	2	0.000399361	0.0	0.0	5008	,	,		21119	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													154.0	128.0	137.0					19																	56379195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2307T>A	19.37:g.56379195T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86W87|Q96AY6	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L769	ENST00000301295.6	37	c.2307	CCDS12936.1	19																																																																																			NLRP4	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000160505		0.532	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	80	0.00	0	T	NM_134444		56379195	56379195	+1	no_errors	ENST00000301295	ensembl	human	known	69_37n	silent	57	22.97	17	SNP	0.000	A
NMNAT2	23057	genome.wustl.edu	37	1	183387389	183387389	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:183387389G>T	ENST00000287713.6	-	1	348	c.14C>A	c.(13-15)aCc>aAc	p.T5N		NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	5					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GTGGGTCTTGGTGGTCTCGGT	0.572																																						dbGAP											0													295.0	234.0	254.0					1																	183387389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.14C>A	1.37:g.183387389G>T	ENSP00000287713:p.Thr5Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	pfam_Cytidylyltransf	p.T5N	ENST00000287713.6	37	c.14	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567389	0.45694	.	.	ENSG00000157064	ENST00000287713	D	0.97378	-4.36	4.6	4.6	0.57074	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.449484	0.24231	N	0.040353	D	0.92169	0.7517	N	0.16166	0.38	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	D	0.88912	0.3360	10	0.15952	T	0.53	-3.2433	16.0094	0.80385	0.0:0.0:1.0:0.0	.	5	Q9BZQ4	NMNA2_HUMAN	N	5	ENSP00000287713:T5N	ENSP00000287713:T5N	T	-	2	0	NMNAT2	181654012	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	5.878000	0.69682	2.104000	0.64026	0.491000	0.48974	ACC	NMNAT2	-	NULL	ENSG00000157064		0.572	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	HGNC	protein_coding	OTTHUMT00000086255.1	115	0.00	0	G			183387389	183387389	-1	no_errors	ENST00000287713	ensembl	human	known	69_37n	missense	56	28.21	22	SNP	1.000	T
NOP2	4839	genome.wustl.edu	37	12	6676997	6676997	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr12:6676997T>C	ENST00000322166.5	-	2	209	c.88A>G	c.(88-90)Aga>Gga	p.R30G	NOP2_ENST00000545915.1_Missense_Mutation_p.R30G|NOP2_ENST00000399466.2_Missense_Mutation_p.R30G|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Missense_Mutation_p.R30G|NOP2_ENST00000545200.1_Missense_Mutation_p.R30G|NOP2_ENST00000541778.1_Missense_Mutation_p.R30G|NOP2_ENST00000540228.1_Missense_Mutation_p.R30G|NOP2_ENST00000537442.1_Missense_Mutation_p.R30G	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	30					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGCAAGAATCTGACGAGTTCT	0.517																																						dbGAP											0													81.0	86.0	84.0					12																	6676997		1907	4109	6016	-	-	-	SO:0001583	missense	0				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.88A>G	12.37:g.6676997T>C	ENSP00000313272:p.Arg30Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.R30G	ENST00000322166.5	37	c.88	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	T	9.524	1.108961	0.20714	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542867;ENST00000536124;ENST00000545492;ENST00000545915;ENST00000540228	T;T;T;T;T;T;T;T;T;T;T	0.49720	2.34;2.26;2.44;2.36;2.34;2.36;0.77;0.77;0.77;0.77;0.77	4.76	2.33	0.28932	.	0.346810	0.28754	N	0.014245	T	0.35422	0.0931	L	0.60455	1.87	0.09310	N	1	P;B	0.39665	0.682;0.003	B;B	0.32980	0.156;0.004	T	0.15780	-1.0425	10	0.21540	T	0.41	-5.3123	8.0514	0.30581	0.0:0.079:0.4736:0.4474	.	30;30	Q3KQS4;P46087-2	.;.	G	30	ENSP00000444437:R30G;ENSP00000371858:R30G;ENSP00000439422:R30G;ENSP00000382392:R30G;ENSP00000313272:R30G;ENSP00000443150:R30G;ENSP00000443035:R30G;ENSP00000442895:R30G;ENSP00000441923:R30G;ENSP00000442742:R30G;ENSP00000445402:R30G	ENSP00000313272:R30G	R	-	1	2	NOP2	6547258	1.000000	0.71417	0.009000	0.14445	0.024000	0.10985	3.122000	0.50446	0.307000	0.22880	0.533000	0.62120	AGA	NOP2	-	NULL	ENSG00000111641		0.517	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	55	0.00	0	T	NM_006170		6676997	6676997	-1	no_errors	ENST00000322166	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.002	C
NOP58	51602	genome.wustl.edu	37	2	203162128	203162128	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:203162128C>T	ENST00000264279.5	+	11	1324	c.1098C>T	c.(1096-1098)acC>acT	p.T366T		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	366	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				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						CAGCCAAAACCGTTTTGGCTA	0.383																																						dbGAP											0													96.0	95.0	95.0					2																	203162128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1098C>T	2.37:g.203162128C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	pfam_NOSIC,pfam_SnoRNA-bd_dom,smart_NOSIC	p.R182C	ENST00000264279.5	37	c.544	CCDS2353.1	2																																																																																			NOP58	-	NULL	ENSG00000055044		0.383	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	196	0.00	0	C	NM_015934		203162128	203162128	+1	no_start_codon	ENST00000433543	ensembl	human	known	69_37n	missense	154	25.24	52	SNP	0.901	T
NOP9	161424	genome.wustl.edu	37	14	24771259	24771259	+	Silent	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr14:24771259C>G	ENST00000267425.3	+	4	990	c.897C>G	c.(895-897)ctC>ctG	p.L299L	DHRS1_ENST00000396813.1_5'Flank|DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Silent_p.L299L	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	299							poly(A) RNA binding (GO:0044822)										GCGCTCATCTCTGCAATGCTG	0.512																																						dbGAP											0													132.0	130.0	131.0					14																	24771259		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.897C>G	14.37:g.24771259C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.L299	ENST00000267425.3	37	c.897	CCDS9624.1	14																																																																																			NOP9	-	superfamily_ARM-type_fold	ENSG00000196943		0.512	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	287	0.00	0	C			24771259	24771259	+1	no_errors	ENST00000267425	ensembl	human	known	69_37n	silent	191	23.29	58	SNP	0.988	G
NPHP1	4867	genome.wustl.edu	37	2	110917730	110917730	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:110917730G>A	ENST00000393272.3	-	11	1319	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	NPHP1_ENST00000316534.4_Missense_Mutation_p.R409C|NPHP1_ENST00000445609.2_Missense_Mutation_p.R353C|NPHP1_ENST00000417665.1_Missense_Mutation_p.R352C|NPHP1_ENST00000355301.4_Missense_Mutation_p.R290C	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	408					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGACAGAGGCGTACATGTCTG	0.378																																						dbGAP											0													119.0	115.0	116.0					2																	110917730		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1222C>T	2.37:g.110917730G>A	ENSP00000376953:p.Arg408Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.R409C	ENST00000393272.3	37	c.1225	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477553	0.63849	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	5.71	3.91	0.45181	.	0.109905	0.64402	D	0.000007	D	0.90198	0.6936	M	0.78049	2.395	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	0.71870	0.944;0.944;0.961;0.961;0.975;0.972	D	0.88987	0.3412	10	0.87932	D	0	-6.4626	6.9609	0.24597	0.08:0.0:0.6118:0.3082	.	352;352;290;408;353;409	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	C	409;353;408;290;352	ENSP00000313169:R409C;ENSP00000389879:R353C;ENSP00000376953:R408C;ENSP00000347452:R290C;ENSP00000402176:R352C	ENSP00000313169:R409C	R	-	1	0	NPHP1	110275019	1.000000	0.71417	0.663000	0.29738	0.993000	0.82548	3.888000	0.56204	0.754000	0.32968	0.563000	0.77884	CGC	NPHP1	-	NULL	ENSG00000144061		0.378	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	202	0.00	0	G	NM_000272		110917730	110917730	-1	no_errors	ENST00000316534	ensembl	human	known	69_37n	missense	211	21.48	58	SNP	0.799	A
OR13C2	392376	genome.wustl.edu	37	9	107367603	107367603	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:107367603G>C	ENST00000542196.1	-	1	348	c.306C>G	c.(304-306)ttC>ttG	p.F102L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCAAGCCGAGGAACATCTGCA	0.517																																						dbGAP											0													162.0	147.0	152.0					9																	107367603		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.306C>G	9.37:g.107367603G>C	ENSP00000438815:p.Phe102Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F102L	ENST00000542196.1	37	c.306	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730948	0.30684	.	.	ENSG00000257019	ENST00000542196	T	0.02067	4.47	3.53	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	U	0.001684	T	0.02929	0.0087	M	0.65677	2.01	0.09310	N	1	B	0.21520	0.057	B	0.23852	0.049	T	0.37430	-0.9706	10	0.72032	D	0.01	.	3.0036	0.06021	0.2416:0.0:0.5435:0.2149	.	102	Q8NGS9	O13C2_HUMAN	L	102	ENSP00000438815:F102L	ENSP00000438815:F102L	F	-	3	2	OR13C2	106407424	0.000000	0.05858	0.636000	0.29352	0.930000	0.56654	-0.681000	0.05191	0.691000	0.31592	0.462000	0.41574	TTC	OR13C2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000257019		0.517	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	316	0.00	0	G	NM_001004481		107367603	107367603	-1	no_errors	ENST00000542196	ensembl	human	known	69_37n	missense	442	17.54	94	SNP	0.192	C
ODF2	4957	genome.wustl.edu	37	9	131233592	131233592	+	Missense_Mutation	SNP	G	G	C	rs200605840	byFrequency	TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:131233592G>C	ENST00000434106.3	+	6	789	c.426G>C	c.(424-426)aaG>aaC	p.K142N	RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000604420.1_Missense_Mutation_p.K142N|ODF2_ENST00000372807.5_Missense_Mutation_p.K137N|ODF2_ENST00000351030.3_Missense_Mutation_p.K137N|ODF2_ENST00000372814.3_Missense_Mutation_p.K186N|ODF2_ENST00000372791.3_Missense_Mutation_p.K123N|ODF2_ENST00000444119.2_Missense_Mutation_p.K118N|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000448249.3_Missense_Mutation_p.K61N|ODF2_ENST00000393533.2_Missense_Mutation_p.K142N|ODF2_ENST00000393527.3_Missense_Mutation_p.K118N|ODF2_ENST00000546203.1_Missense_Mutation_p.K123N	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	142					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAGGTCAAGATGCAAAAAG	0.577																																						dbGAP											0													92.0	88.0	89.0					9																	131233592		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.426G>C	9.37:g.131233592G>C	ENSP00000403453:p.Lys142Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.K142N	ENST00000434106.3	37	c.426	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672237	0.14776	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000421776;ENST00000444119;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000432065;ENST00000372791	T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;1.44;-0.05;-0.05;-0.05;-0.05;-0.05	5.66	2.83	0.33086	.	0.312268	0.37053	N	0.002265	T	0.70622	0.3245	L	0.50333	1.59	0.80722	D	1	D;P;D;P;B;P;P;D;D;P	0.76494	0.974;0.9;0.999;0.902;0.223;0.554;0.9;0.974;0.96;0.902	P;P;D;B;B;B;P;P;P;B	0.78314	0.57;0.466;0.991;0.415;0.246;0.157;0.466;0.57;0.669;0.415	T	0.65747	-0.6093	10	0.33940	T	0.23	-26.2163	11.6918	0.51521	0.1956:0.0:0.8044:0.0	.	123;137;61;76;142;186;137;123;142;118	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	N	142;186;137;142;118;61;61;118;142;123;123;66;123	ENSP00000377166:K142N;ENSP00000361901:K186N;ENSP00000342581:K137N;ENSP00000361882:K142N;ENSP00000307781:K118N;ENSP00000396687:K61N;ENSP00000394506:K118N;ENSP00000403453:K142N;ENSP00000437579:K123N;ENSP00000415290:K123N;ENSP00000361877:K123N	ENSP00000307781:K118N	K	+	3	2	ODF2	130273413	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	2.102000	0.41796	0.354000	0.24105	-2.885000	0.00097	AAG	ODF2	-	NULL	ENSG00000136811		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	51	0.00	0	G			131233592	131233592	+1	no_errors	ENST00000372796	ensembl	human	known	69_37n	missense	59	11.94	8	SNP	1.000	C
PCDHA10	56139	genome.wustl.edu	37	5	140237804	140237804	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr5:140237804C>T	ENST00000307360.5	+	1	2171	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	724					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCGGCGGCGCCCACCGAG	0.652																																						dbGAP											0													26.0	23.0	24.0					5																	140237804		1321	2289	3610	-	-	-	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2171C>T	5.37:g.140237804C>T	ENSP00000304234:p.Ala724Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A724V	ENST00000307360.5	37	c.2171	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	T	0.035	-1.311008	0.01342	.	.	ENSG00000250120	ENST00000307360	T	0.11385	2.78	3.1	-0.849	0.10723	.	.	.	.	.	T	0.05410	0.0143	N	0.16602	0.42	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.001	T	0.43491	-0.9388	9	0.23302	T	0.38	.	4.6474	0.12579	0.2587:0.474:0.0:0.2673	.	724;724	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	724	ENSP00000304234:A724V	ENSP00000304234:A724V	A	+	2	0	PCDHA10	140217988	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.490000	0.02304	-0.550000	0.06183	-3.678000	0.00024	GCG	PCDHA10	-	NULL	ENSG00000250120		0.652	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	12	0.00	0	C	NM_018901		140237804	140237804	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	missense	2	66.67	4	SNP	0.001	T
PFKM	5213	genome.wustl.edu	37	12	48528758	48528758	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr12:48528758C>T	ENST00000312352.7	+	9	819	c.780C>T	c.(778-780)atC>atT	p.I260I	PFKM_ENST00000547587.1_Silent_p.I260I|PFKM_ENST00000359794.5_Silent_p.I260I|PFKM_ENST00000551804.1_Silent_p.I260I|PFKM_ENST00000340802.6_Silent_p.I331I|PFKM_ENST00000395233.2_Silent_p.I260I	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	260	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCAACATCATCATTGTGGCTG	0.453																																						dbGAP											0													126.0	122.0	123.0					12																	48528758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.780C>T	12.37:g.48528758C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.I260	ENST00000312352.7	37	c.780	CCDS8760.1	12																																																																																			PFKM	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.453	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	224	0.00	0	C	NM_000289		48528758	48528758	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	silent	161	25.12	54	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	168	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	230	34.46	122	SNP	1.000	G
PLCH2	9651	genome.wustl.edu	37	1	2422690	2422690	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:2422690C>T	ENST00000419816.2	+	11	1849	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	PLCH2_ENST00000378488.3_Silent_p.I525I|PLCH2_ENST00000449969.1_Silent_p.I498I|PLCH2_ENST00000378486.3_Silent_p.I525I|PLCH2_ENST00000288766.5_Intron|RP3-395M20.3_ENST00000442305.1_RNA|RP3-395M20.2_ENST00000424657.1_RNA			O75038	PLCH2_HUMAN	phospholipase C, eta 2	525					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ATTCCCTCATCAAAGAGTCGA	0.547																																						dbGAP											0													82.0	89.0	87.0					1																	2422690		1969	4155	6124	-	-	-	SO:0001819	synonymous_variant	0			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1575C>T	1.37:g.2422690C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.I525	ENST00000419816.2	37	c.1575		1																																																																																			PLCH2	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000149527		0.547	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	HGNC	protein_coding	OTTHUMT00000467514.1	16	0.00	0	C	NM_014638		2422690	2422690	+1	no_errors	ENST00000378486	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	1.000	T
PLK3	1263	genome.wustl.edu	37	1	45268477	45268477	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:45268477G>A	ENST00000372201.4	+	6	938	c.699G>A	c.(697-699)ctG>ctA	p.L233L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	233	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)					AAGTGCTGCTGAGACAGGGCC	0.627																																						dbGAP											0													91.0	90.0	90.0					1																	45268477		2203	4300	6503	-	-	-	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.699G>A	1.37:g.45268477G>A		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.L233	ENST00000372201.4	37	c.699	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		0.627	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	60	0.00	0	G	NM_004073		45268477	45268477	+1	no_errors	ENST00000372201	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	1.000	A
PLXDC1	57125	genome.wustl.edu	37	17	37234233	37234233	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:37234233G>A	ENST00000315392.4	-	11	1330	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.F333F|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	373					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CATAGGGGCTGAAGGAAGTGT	0.582																																						dbGAP											0													202.0	137.0	159.0					17																	37234233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1119C>T	17.37:g.37234233G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold	p.F373	ENST00000315392.4	37	c.1119	CCDS11333.1	17																																																																																			PLXDC1	-	NULL	ENSG00000161381		0.582	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	55	0.00	0	G	NM_020405		37234233	37234233	-1	no_errors	ENST00000315392	ensembl	human	known	69_37n	silent	23	23.33	7	SNP	0.244	A
PPP1R26	9858	genome.wustl.edu	37	9	138379215	138379215	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:138379215G>A	ENST00000356818.2	+	4	3408	c.2859G>A	c.(2857-2859)gtG>gtA	p.V953V	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.V953V|PPP1R26_ENST00000604351.1_Silent_p.V953V|PPP1R26_ENST00000605660.1_Silent_p.V953V|PPP1R26_ENST00000605286.1_Silent_p.V953V	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	953					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGCTCTCAGTGAGCAGGAGAA	0.652																																						dbGAP											0													30.0	35.0	34.0					9																	138379215		2049	4037	6086	-	-	-	SO:0001819	synonymous_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2859G>A	9.37:g.138379215G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.V953	ENST00000356818.2	37	c.2859	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	30	0.00	0	G	NM_014811		138379215	138379215	+1	no_errors	ENST00000356818	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	0.000	A
PPP1R3A	5506	genome.wustl.edu	37	7	113558463	113558463	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:113558463G>A	ENST00000284601.3	-	1	657	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	197	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTTGATAAGGAGGAACCAAT	0.333																																						dbGAP											0													99.0	93.0	95.0					7																	113558463		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.589C>T	7.37:g.113558463G>A	ENSP00000284601:p.Pro197Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.P197S	ENST00000284601.3	37	c.589	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806327	0.70682	.	.	ENSG00000154415	ENST00000284601	T	0.62232	0.04	5.87	5.87	0.94306	Putative phosphatase regulatory subunit (2);	0.115109	0.64402	D	0.000012	T	0.78641	0.4315	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.77915	-0.2409	10	0.66056	D	0.02	-0.1179	20.5827	0.99408	0.0:0.0:1.0:0.0	.	197	Q16821	PPR3A_HUMAN	S	197	ENSP00000284601:P197S	ENSP00000284601:P197S	P	-	1	0	PPP1R3A	113345699	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.349000	0.79376	2.941000	0.99782	0.655000	0.94253	CCT	PPP1R3A	-	pfam_CBM_21,pfscan_CBM_21	ENSG00000154415		0.333	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	193	0.00	0	G	NM_002711		113558463	113558463	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	missense	188	20.92	50	SNP	1.000	A
PRKG2	5593	genome.wustl.edu	37	4	82126025	82126025	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr4:82126025C>T	ENST00000395578.1	-	2	293	c.177G>A	c.(175-177)tcG>tcA	p.S59S	PRKG2_ENST00000264399.1_Silent_p.S59S|PRKG2_ENST00000418486.2_Silent_p.S59S			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	59					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CAGTCTGCTTCGACAGCTGCT	0.557																																						dbGAP											0													110.0	109.0	109.0					4																	82126025		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.177G>A	4.37:g.82126025C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.S59	ENST00000395578.1	37	c.177	CCDS3589.1	4																																																																																			PRKG2	-	pirsf_cGMP-dependent_protein_kinase	ENSG00000138669		0.557	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	155	0.00	0	C	NM_006259		82126025	82126025	-1	no_errors	ENST00000264399	ensembl	human	known	69_37n	silent	94	33.80	48	SNP	0.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79239391	79239391	+	Silent	SNP	C	C	A	rs568557630		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:79239391C>A	ENST00000376718.3	-	17	9288	c.9165G>T	c.(9163-9165)ctG>ctT	p.L3055L	PRUNE2_ENST00000223609.6_Intron|PRUNE2_ENST00000443509.2_Silent_p.L304L|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000428286.1_Silent_p.L2697L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	3055	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				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						atgcttccctcagttcttcat	0.458																																						dbGAP											0													55.0	54.0	54.0					9																	79239391		1564	3564	5128	-	-	-	SO:0001819	synonymous_variant	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.9165G>T	9.37:g.79239391C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L2697	ENST00000376718.3	37	c.8091	CCDS47982.1	9																																																																																			PRUNE2	-	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000106772		0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	12	0.00	0	C	NM_138818		79239391	79239391	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	1.000	A
RBBP6	5930	genome.wustl.edu	37	16	24581246	24581246	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr16:24581246C>G	ENST00000319715.4	+	17	3667	c.3235C>G	c.(3235-3237)Cag>Gag	p.Q1079E	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.Q1045E	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1079	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATCTTCCTCTCAGAAGGATGA	0.403																																						dbGAP											0													52.0	49.0	50.0					16																	24581246		2195	4300	6495	-	-	-	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3235C>G	16.37:g.24581246C>G	ENSP00000317872:p.Gln1079Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.Q1079E	ENST00000319715.4	37	c.3235	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541193	0.65085	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.17691	2.3;2.26	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000040	T	0.28333	0.0700	N	0.24115	0.695	0.43559	D	0.995875	D;P	0.56035	0.974;0.956	D;D	0.70487	0.969;0.931	T	0.03784	-1.1004	10	0.18276	T	0.48	-12.1131	19.3691	0.94477	0.0:1.0:0.0:0.0	.	1045;1079	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	E	1079;1045	ENSP00000317872:Q1079E;ENSP00000316291:Q1045E	ENSP00000317872:Q1079E	Q	+	1	0	RBBP6	24488747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.766000	0.62279	2.578000	0.87016	0.655000	0.94253	CAG	RBBP6	-	NULL	ENSG00000122257		0.403	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	236	0.00	0	C	NM_006910		24581246	24581246	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	missense	272	10.49	32	SNP	1.000	G
RGS22	26166	genome.wustl.edu	37	8	101052243	101052243	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr8:101052243C>T	ENST00000360863.6	-	13	2205	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	RGS22_ENST00000523287.1_Missense_Mutation_p.E490K|RGS22_ENST00000523437.1_Missense_Mutation_p.E659K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	671					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GCTCTATTTTCTACATACAAA	0.313																																						dbGAP											0													54.0	50.0	51.0					8																	101052243		1815	4073	5888	-	-	-	SO:0001583	missense	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2011G>A	8.37:g.101052243C>T	ENSP00000354109:p.Glu671Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.E671K	ENST00000360863.6	37	c.2011	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806549	0.90623	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.29142	1.58;1.58;1.58	5.61	5.61	0.85477	Regulator of G protein signalling superfamily (1);	0.070683	0.56097	D	0.000039	T	0.50803	0.1637	L	0.44542	1.39	0.39126	D	0.961757	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.984	T	0.51826	-0.8656	10	0.66056	D	0.02	.	19.6351	0.95728	0.0:1.0:0.0:0.0	.	659;671;490	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	K	671;659;490;659	ENSP00000354109:E671K;ENSP00000429382:E490K;ENSP00000428212:E659K	ENSP00000354109:E671K	E	-	1	0	RGS22	101121419	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.308000	0.65768	2.625000	0.88918	0.591000	0.81541	GAA	RGS22	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000132554		0.313	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	68	0.00	0	C	NM_015668		101052243	101052243	-1	no_errors	ENST00000360863	ensembl	human	known	69_37n	missense	81	16.33	16	SNP	1.000	T
RLF	6018	genome.wustl.edu	37	1	40702638	40702638	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:40702638C>T	ENST00000372771.4	+	8	2291	c.2264C>T	c.(2263-2265)tCa>tTa	p.S755L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	755					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|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(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGGTTTGGATCAGTAAATGAA	0.383																																						dbGAP											0													140.0	137.0	138.0					1																	40702638		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2264C>T	1.37:g.40702638C>T	ENSP00000361857:p.Ser755Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S755L	ENST00000372771.4	37	c.2264	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232425	0.79688	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.36340	1.26	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.114234	0.56097	D	0.000022	T	0.49795	0.1578	L	0.48218	1.51	0.53688	D	0.999975	P;D	0.56521	0.832;0.976	P;P	0.54815	0.653;0.761	T	0.18429	-1.0337	10	0.40728	T	0.16	-11.1095	20.8794	0.99867	0.0:1.0:0.0:0.0	.	448;755	F5H2M5;Q13129	.;RLF_HUMAN	L	755;448	ENSP00000361857:S755L	ENSP00000361857:S755L	S	+	2	0	RLF	40475225	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.433000	0.80362	2.941000	0.99782	0.655000	0.94253	TCA	RLF	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000117000		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	245	0.00	0	C	NM_012421		40702638	40702638	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	missense	295	11.14	37	SNP	1.000	T
ROPN1L	83853	genome.wustl.edu	37	5	10464988	10464988	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr5:10464988C>G	ENST00000503804.1	+	6	1143	c.622C>G	c.(622-624)Ctt>Gtt	p.L208V	ROPN1L_ENST00000274134.4_Missense_Mutation_p.L208V|ROPN1L_ENST00000510520.1_Intron			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	208					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CATGATAGGTCTTTCAGATTT	0.303																																						dbGAP											0													72.0	80.0	78.0					5																	10464988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.622C>G	5.37:g.10464988C>G	ENSP00000421405:p.Leu208Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC9|Q9BZX0	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.L208V	ENST00000503804.1	37	c.622	CCDS3879.1	5	.	.	.	.	.	.	.	.	.	.	C	0.481	-0.879878	0.02530	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.21734	1.99;1.99	4.57	1.3	0.21679	.	0.505461	0.19657	N	0.109065	T	0.09949	0.0244	N	0.16478	0.41	0.29490	N	0.855707	B	0.11235	0.004	B	0.08055	0.003	T	0.34775	-0.9815	10	0.09338	T	0.73	-3.5538	8.4699	0.32980	0.0:0.514:0.3898:0.0962	.	208	Q96C74	ROP1L_HUMAN	V	208	ENSP00000421405:L208V;ENSP00000274134:L208V	ENSP00000274134:L208V	L	+	1	0	ROPN1L	10517988	0.992000	0.36948	0.962000	0.40283	0.621000	0.37620	0.335000	0.19806	0.457000	0.26962	0.558000	0.71614	CTT	ROPN1L	-	NULL	ENSG00000145491		0.303	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1L	HGNC	protein_coding	OTTHUMT00000367033.1	59	0.00	0	C	NM_031916		10464988	10464988	+1	no_errors	ENST00000274134	ensembl	human	known	69_37n	missense	53	10.17	6	SNP	0.996	G
RUFY3	22902	genome.wustl.edu	37	4	71639285	71639285	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr4:71639285G>A	ENST00000226328.4	+	6	1317	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	RUFY3_ENST00000502653.1_Missense_Mutation_p.E199K|RUFY3_ENST00000381006.3_Missense_Mutation_p.E252K|RUFY3_ENST00000417478.2_Missense_Mutation_p.E312K|RUFY3_ENST00000536664.1_Missense_Mutation_p.E236K	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	252					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TAAAGGTACTGAAGGGTACGT	0.318																																						dbGAP											0													78.0	81.0	80.0					4																	71639285		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.754G>A	4.37:g.71639285G>A	ENSP00000226328:p.Glu252Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.E312K	ENST00000226328.4	37	c.934	CCDS3547.1	4	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544691	0.65198	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T	0.22743	2.61;2.99;2.65;2.64;1.94;2.98	5.62	5.62	0.85841	.	.	.	.	.	T	0.38665	0.1049	L	0.45051	1.395	0.80722	D	1	D;D;D;B	0.67145	0.974;0.996;0.993;0.094	P;D;D;B	0.68192	0.813;0.956;0.956;0.108	T	0.01767	-1.1278	9	0.21540	T	0.41	-23.3183	19.6602	0.95864	0.0:0.0:1.0:0.0	.	236;252;252;312	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	K	312;252;252;236;188;199	ENSP00000399771:E312K;ENSP00000370394:E252K;ENSP00000226328:E252K;ENSP00000443652:E236K;ENSP00000425574:E188K;ENSP00000425400:E199K	ENSP00000226328:E252K	E	+	1	0	RUFY3	71858149	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	9.390000	0.97246	2.638000	0.89438	0.460000	0.39030	GAA	RUFY3	-	NULL	ENSG00000018189		0.318	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	88	0.00	0	G	NM_014961		71639285	71639285	+1	no_errors	ENST00000417478	ensembl	human	known	69_37n	missense	39	39.06	25	SNP	1.000	A
SARDH	1757	genome.wustl.edu	37	9	136550315	136550315	+	Splice_Site	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:136550315C>T	ENST00000371872.4	-	17	2420	c.2163G>A	c.(2161-2163)ctG>ctA	p.L721L	SARDH_ENST00000439388.1_Splice_Site_p.L721L|SARDH_ENST00000371868.1_Splice_Site_p.L149L|SARDH_ENST00000422262.2_Splice_Site_p.L553L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	721					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGAACCTACCAGGTGCCCTG	0.667																																						dbGAP											0													86.0	66.0	73.0					9																	136550315		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2163+1G>A	9.37:g.136550315C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.L721	ENST00000371872.4	37	c.2163	CCDS6978.1	9																																																																																			SARDH	-	pfam_GCV_T_N	ENSG00000123453		0.667	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	14	0.00	0	C		Silent	136550315	136550315	-1	no_errors	ENST00000371872	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	1.000	T
SASH3	54440	genome.wustl.edu	37	X	128926635	128926636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chrX:128926635_128926636insG	ENST00000356892.3	+	6	738_739	c.624_625insG	c.(625-627)cctfs	p.P209fs	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	209	SH3.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TTGAAAAGCCACCTGTGGGCAC	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	Exception_encountered	X.37:g.128926635_128926636insG	ENSP00000349359:p.Pro209fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCH1|A8K7K8|Q5JZ38	Frame_Shift_Ins	INS	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.P208fs	ENST00000356892.3	37	c.624_625	CCDS14614.1	X																																																																																			SASH3	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	ENSG00000122122		0.584	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH3	HGNC	protein_coding	OTTHUMT00000058208.1	180	0.00	0	-	NM_018990		128926635	128926636	+1	no_errors	ENST00000356892	ensembl	human	known	69_37n	frame_shift_ins	96	37.66	58	INS	0.805:1.000	G
SCML1	6322	genome.wustl.edu	37	X	17768113	17768113	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chrX:17768113G>A	ENST00000380041.3	+	6	731	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	SCML1_ENST00000380043.3_Missense_Mutation_p.E108K|SCML1_ENST00000398080.1_Missense_Mutation_p.E14K|SCML1_ENST00000380045.3_Missense_Mutation_p.E14K	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	135					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CTCCTACCCTGAAAGTTACAG	0.428																																						dbGAP											0													99.0	91.0	94.0					X																	17768113		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.403G>A	X.37:g.17768113G>A	ENSP00000369380:p.Glu135Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E135K	ENST00000380041.3	37	c.403	CCDS35210.1	X	.	.	.	.	.	.	.	.	.	.	g	9.805	1.181590	0.21787	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080;ENST00000419185	.	.	.	3.69	-4.26	0.03755	.	0.449472	0.19032	N	0.124508	T	0.23886	0.0578	L	0.29908	0.895	0.09310	N	1	B;B	0.24368	0.102;0.062	B;B	0.23852	0.049;0.022	T	0.06110	-1.0845	9	0.40728	T	0.16	-0.373	7.2198	0.25979	0.2782:0.5202:0.2016:0.0	.	108;135	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	K	14;135;108;14;108	.	ENSP00000369380:E135K	E	+	1	0	SCML1	17678034	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.518000	0.06267	-1.353000	0.02191	-0.865000	0.03005	GAA	SCML1	-	NULL	ENSG00000047634		0.428	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCML1	HGNC	protein_coding	OTTHUMT00000060495.5	346	0.00	0	G	NM_006746		17768113	17768113	+1	no_errors	ENST00000380041	ensembl	human	known	69_37n	missense	228	20.28	58	SNP	0.000	A
SERPINA10	51156	genome.wustl.edu	37	14	94754811	94754811	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr14:94754811C>A	ENST00000393096.1	-	3	1269	c.804G>T	c.(802-804)atG>atT	p.M268I	SERPINA10_ENST00000554173.1_Missense_Mutation_p.M268I|SERPINA10_ENST00000554723.1_Missense_Mutation_p.M308I|SERPINA10_ENST00000261994.4_Missense_Mutation_p.M268I	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	268					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CACCGTACATCATGGGCACCT	0.493																																						dbGAP											0													126.0	112.0	116.0					14																	94754811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.804G>T	14.37:g.94754811C>A	ENSP00000376809:p.Met268Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.M268I	ENST00000393096.1	37	c.804	CCDS9923.1	14	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215227	0.58452	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.37	4.42	0.53409	Serpin domain (3);	0.232377	0.36338	N	0.002658	D	0.94778	0.8314	M	0.91510	3.215	0.58432	D	0.999994	D	0.58268	0.982	P	0.60609	0.877	D	0.95790	0.8824	10	0.87932	D	0	.	15.5053	0.75735	0.0:0.8613:0.1387:0.0	.	268	Q9UK55	ZPI_HUMAN	I	308;268;268;268	ENSP00000450896:M308I;ENSP00000376809:M268I;ENSP00000261994:M268I;ENSP00000450971:M268I	ENSP00000261994:M268I	M	-	3	0	SERPINA10	93824564	1.000000	0.71417	0.998000	0.56505	0.130000	0.20726	4.289000	0.59013	2.504000	0.84457	0.313000	0.20887	ATG	SERPINA10	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000140093		0.493	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	HGNC	protein_coding	OTTHUMT00000413061.1	132	0.00	0	C	NM_016186		94754811	94754811	-1	no_errors	ENST00000261994	ensembl	human	known	69_37n	missense	66	17.50	14	SNP	1.000	A
SETD3	84193	genome.wustl.edu	37	14	99865308	99865308	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr14:99865308G>A	ENST00000331768.5	-	13	1652	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	498					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)	p.P498L(1)		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)				TTTGGGAAGCGGAGCCTTTTC	0.512																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											137.0	137.0	137.0					14																	99865308		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.1493C>T	14.37:g.99865308G>A	ENSP00000327436:p.Pro498Leu	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.P498L	ENST00000331768.5	37	c.1493	CCDS9951.1	14	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792200	0.50102	.	.	ENSG00000183576	ENST00000331768	T	0.23147	1.92	5.12	4.23	0.50019	Rubisco LS methyltransferase, substrate-binding domain (2);	0.052781	0.85682	D	0.000000	T	0.23806	0.0576	M	0.63843	1.955	0.80722	D	1	B	0.31769	0.339	B	0.12837	0.008	T	0.05241	-1.0897	10	0.59425	D	0.04	-22.8477	10.9605	0.47383	0.1511:0.0:0.8489:0.0	.	498	Q86TU7	SETD3_HUMAN	L	498	ENSP00000327436:P498L	ENSP00000327436:P498L	P	-	2	0	SETD3	98935061	1.000000	0.71417	0.807000	0.32361	0.997000	0.91878	6.130000	0.71663	1.158000	0.42547	0.655000	0.94253	CCG	SETD3	-	superfamily_Rubisco_LSMT_subst-bd	ENSG00000183576		0.512	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3	302	0.00	0	G	NM_032233		99865308	99865308	-1	no_errors	ENST00000331768	ensembl	human	known	69_37n	missense	179	30.08	77	SNP	0.936	A
SIGLEC5	8778	genome.wustl.edu	37	19	52130890	52130890	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr19:52130890C>T	ENST00000534261.2	-	7	1506	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	SIGLEC5_ENST00000429354.3_Silent_p.E369E|SIGLEC5_ENST00000222107.4_Silent_p.E369E|SIGLEC5_ENST00000599649.1_Silent_p.E369E|SIGLEC5_ENST00000570106.2_Silent_p.E369E			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	369					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CCAGCGGCTTCTCCTCAAGCC	0.672																																						dbGAP											0													15.0	18.0	17.0					19																	52130890		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1107G>A	19.37:g.52130890C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E369	ENST00000534261.2	37	c.1107	CCDS33088.1	19																																																																																			SIGLEC5	-	NULL	ENSG00000105501		0.672	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	47	0.00	0	C	NM_003830		52130890	52130890	-1	no_errors	ENST00000222107	ensembl	human	known	69_37n	silent	35	10.26	4	SNP	0.002	T
SLC35F5	80255	genome.wustl.edu	37	2	114512753	114512753	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:114512753C>T	ENST00000245680.2	-	3	675	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	SLC35F5_ENST00000409342.1_Missense_Mutation_p.E82K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	88					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GAAGTAAGTTCAGAGGAAGCA	0.438																																						dbGAP											0													78.0	74.0	75.0					2																	114512753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.262G>A	2.37:g.114512753C>T	ENSP00000245680:p.Glu88Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H6P8|Q9H7D8	Missense_Mutation	SNP	pfam_DMT	p.E88K	ENST00000245680.2	37	c.262	CCDS2119.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.366018	0.95900	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.50548	0.74;0.75	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.66439	2.03	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.993	D;D;D	0.75020	0.985;0.973;0.971	T	0.60627	-0.7226	10	0.26408	T	0.33	-19.431	16.7592	0.85507	0.0:1.0:0.0:0.0	.	88;82;88	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	K	88;82;82	ENSP00000245680:E88K;ENSP00000386754:E82K	ENSP00000245680:E88K	E	-	1	0	SLC35F5	114229223	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	6.790000	0.75115	2.619000	0.88677	0.655000	0.94253	GAA	SLC35F5	-	NULL	ENSG00000115084		0.438	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F5	HGNC	protein_coding	OTTHUMT00000254150.1	98	0.00	0	C	NM_025181		114512753	114512753	-1	no_errors	ENST00000245680	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	0.999	T
SLC6A9	6536	genome.wustl.edu	37	1	44468297	44468298	+	Frame_Shift_Del	DEL	AC	AC	-	rs113051677	byFrequency	TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:44468297_44468298delAC	ENST00000360584.2	-	7	1154_1155	c.963_964delGT	c.(961-966)acgttcfs	p.F322fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.F249fs|SLC6A9_ENST00000372307.3_Frame_Shift_Del_p.F184fs|SLC6A9_ENST00000372310.3_Frame_Shift_Del_p.F249fs|SLC6A9_ENST00000475075.2_Frame_Shift_Del_p.F138fs|SLC6A9_ENST00000537678.1_Frame_Shift_Del_p.F184fs|SLC6A9_ENST00000357730.2_Frame_Shift_Del_p.F268fs	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	322					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACGTAGGGGAACGTGGCCGTGA	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.963_964delGT	1.37:g.44468297_44468298delAC	ENSP00000353791:p.Phe322fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.F322fs	ENST00000360584.2	37	c.964_963	CCDS41317.1	1																																																																																			SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000196517		0.604	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	116	0.00	0	AC	NM_201649		44468297	44468298	-1	no_errors	ENST00000360584	ensembl	human	known	69_37n	frame_shift_del	49	33.33	25	DEL	0.992:0.001	-
SLITRK2	84631	genome.wustl.edu	37	X	144904063	144904063	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chrX:144904063C>T	ENST00000370490.1	+	1	4375	c.120C>T	c.(118-120)aaC>aaT	p.N40N	SLITRK2_ENST00000434188.2_Silent_p.N40N|SLITRK2_ENST00000428560.2_Silent_p.N40N|SLITRK2_ENST00000413937.2_Silent_p.N40N|SLITRK2_ENST00000447897.2_Silent_p.N40N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	40					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.N40N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGAAAACGTACTGAATA	0.458																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											93.0	79.0	84.0					X																	144904063		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.120C>T	X.37:g.144904063C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N40	ENST00000370490.1	37	c.120	CCDS14680.1	X																																																																																			SLITRK2	-	smart_LRR-contain_N	ENSG00000185985		0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	114	0.00	0	C	NM_032539		144904063	144904063	+1	no_errors	ENST00000370490	ensembl	human	known	69_37n	silent	41	42.47	31	SNP	1.000	T
SMAD2	4087	genome.wustl.edu	37	18	45368211	45368211	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr18:45368211G>C	ENST00000402690.2	-	11	1785	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S464*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S434*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S434*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	464	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|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)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.S464*(4)|p.R462fs*>4(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TGACATGCTTGAGCAACGCAC	0.423																																						dbGAP											5	Substitution - Nonsense(4)|Deletion - Frameshift(1)	large_intestine(4)|kidney(1)											162.0	130.0	141.0					18																	45368211		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1391C>G	18.37:g.45368211G>C	ENSP00000384449:p.Ser464*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S464*	ENST00000402690.2	37	c.1391	CCDS11934.1	18	.	.	.	.	.	.	.	.	.	.	G	41	8.723736	0.98929	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	.	.	.	X	464;434;464	.	ENSP00000262160:S464X	S	-	2	0	SMAD2	43622209	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.781000	0.99029	2.824000	0.97209	0.655000	0.94253	TCA	SMAD2	-	pfscan_SMAD_dom_Dwarfin-type	ENSG00000175387		0.423	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD2	HGNC	protein_coding	OTTHUMT00000450571.1	104	0.00	0	G	NM_005901		45368211	45368211	-1	no_errors	ENST00000262160	ensembl	human	known	69_37n	nonsense	48	26.15	17	SNP	1.000	C
SMO	6608	genome.wustl.edu	37	7	128848650	128848650	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:128848650G>A	ENST00000249373.3	+	7	1595	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	439					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)	GCTGCTGAGTGAGAAGGCTGC	0.617			Mis		skin basal cell																																	dbGAP		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													53.0	45.0	48.0					7																	128848650		2203	4300	6503	-	-	-	SO:0001583	missense	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.1315G>A	7.37:g.128848650G>A	ENSP00000249373:p.Glu439Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K5	Missense_Mutation	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.E439K	ENST00000249373.3	37	c.1315	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592937	0.66219	.	.	ENSG00000128602	ENST00000249373	T	0.79554	-1.28	5.25	5.25	0.73442	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.83156	0.5193	L	0.48935	1.535	0.80722	D	1	D;D	0.61080	0.989;0.979	P;P	0.57101	0.813;0.675	T	0.79453	-0.1797	10	0.19147	T	0.46	.	17.4201	0.87512	0.0:0.0:1.0:0.0	.	439;439	A4D1K5;Q99835	.;SMO_HUMAN	K	439	ENSP00000249373:E439K	ENSP00000249373:E439K	E	+	1	0	SMO	128635886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.724000	0.84798	2.451000	0.82905	0.655000	0.94253	GAG	SMO	-	pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000128602		0.617	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	36	0.00	0	G	NM_005631		128848650	128848650	+1	no_errors	ENST00000249373	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	A
ZBTB37	84614	genome.wustl.edu	37	1	173835788	173835790	+	5'Flank	DEL	ATG	ATG	-			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	ATG	ATG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:173835788_173835790delATG	ENST00000367701.5	+	0	0				GAS5_ENST00000363840.1_RNA|ZBTB37_ENST00000367702.1_5'Flank|GAS5_ENST00000365524.1_RNA|GAS5-AS1_ENST00000602767.1_RNA|GAS5_ENST00000363859.1_RNA|SNORD78_ENST00000385582.1_RNA|GAS5_ENST00000364822.2_RNA|GAS5_ENST00000385578.2_RNA|ZBTB37_ENST00000367704.1_5'Flank|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000432989.1_5'Flank|GAS5_ENST00000363146.1_RNA|ZBTB37_ENST00000427304.1_5'Flank			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AGTTAAGATAATGGTGGTTAAGA	0.409																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274		1.37:g.173835788_173835790delATG	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TC80|Q96M87|Q9BQ88	RNA	DEL	-	NULL	ENST00000367701.5	37	NULL	CCDS44278.1	1																																																																																			SNORD76	-	-	ENSG00000200016		0.409	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD76	HGNC	protein_coding	OTTHUMT00000090729.2	92	0.00	0	ATG	NM_032522		173835788	173835790	-1	no_errors	ENST00000363146	ensembl	human	known	69_37n	rna	78	14.29	13	DEL	0.128:0.132:0.995	-
STEAP1	26872	genome.wustl.edu	37	7	89789120	89789120	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:89789120C>T	ENST00000297205.2	+	2	218	c.18C>T	c.(16-18)gaC>gaT	p.D6D	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	6					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GCAGAAAAGACATCACAAACC	0.264																																						dbGAP											0													61.0	71.0	67.0					7																	89789120		2190	4287	6477	-	-	-	SO:0001819	synonymous_variant	0			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.18C>T	7.37:g.89789120C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1E0|O95034	Silent	SNP	pfam_Fe3_Rdtase_TM_dom	p.D6	ENST00000297205.2	37	c.18	CCDS5614.1	7																																																																																			STEAP1	-	NULL	ENSG00000164647		0.264	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP1	HGNC	protein_coding	OTTHUMT00000059327.3	222	0.00	0	C	NM_012449		89789120	89789120	+1	no_errors	ENST00000297205	ensembl	human	known	69_37n	silent	143	21.43	39	SNP	0.317	T
SSPO	23145	genome.wustl.edu	37	7	149489165	149489165	+	RNA	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:149489165C>T	ENST00000378016.2	+	0	5410							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTTGCCCTCAGGACGGCTG	0.622																																						dbGAP											0													64.0	71.0	69.0					7																	149489165		2114	4206	6320	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489165C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.622	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		26	0.00	0	C			149489165	149489165	+1	no_errors	ENST00000262089	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	1.000	T
SUFU	51684	genome.wustl.edu	37	10	104386944	104386944	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr10:104386944G>A	ENST00000369902.3	+	11	1475	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K		NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	437					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCTGTTGACCGAAGAGTTTGT	0.408			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													dbGAP	yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													190.0	188.0	188.0					10																	104386944		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1309G>A	10.37:g.104386944G>A	ENSP00000358918:p.Glu437Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein	p.E437K	ENST00000369902.3	37	c.1309	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514162	0.44763	.	.	ENSG00000107882	ENST00000369902	T	0.49720	0.77	4.57	4.57	0.56435	Suppressor of fused C-terminal (1);	0.200874	0.52532	D	0.000079	T	0.39835	0.1093	L	0.40543	1.245	0.80722	D	1	B	0.27316	0.175	B	0.16722	0.016	T	0.31779	-0.9931	10	0.45353	T	0.12	-1.7445	15.8776	0.79178	0.0:0.0:1.0:0.0	.	437	Q9UMX1	SUFU_HUMAN	K	437	ENSP00000358918:E437K	ENSP00000358918:E437K	E	+	1	0	SUFU	104376934	1.000000	0.71417	0.862000	0.33874	0.583000	0.36354	8.970000	0.93415	2.265000	0.75225	0.561000	0.74099	GAA	SUFU	-	pfam_SUFU_C,pirsf_Suppressor_of_fused_protein	ENSG00000107882		0.408	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	158	0.00	0	G	NM_016169		104386944	104386944	+1	no_errors	ENST00000369902	ensembl	human	known	69_37n	missense	61	29.89	26	SNP	0.998	A
SYNJ2	8871	genome.wustl.edu	37	6	158516838	158516838	+	Silent	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr6:158516838C>G	ENST00000355585.4	+	27	4008	c.3933C>G	c.(3931-3933)gcC>gcG	p.A1311A	SYNJ2_ENST00000367122.2_Silent_p.A1266A|SYNJ2_ENST00000367112.1_Silent_p.A396A	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1311	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGACGAAGCCCCTCCTGGGG	0.632																																						dbGAP											0													45.0	53.0	50.0					6																	158516838		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3933C>G	6.37:g.158516838C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.A1311	ENST00000355585.4	37	c.3933	CCDS5254.1	6																																																																																			SYNJ2	-	NULL	ENSG00000078269		0.632	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	86	0.00	0	C			158516838	158516838	+1	no_errors	ENST00000355585	ensembl	human	known	69_37n	silent	88	13.73	14	SNP	0.000	G
TAF1B	9014	genome.wustl.edu	37	2	10008483	10008483	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:10008483C>T	ENST00000263663.5	+	6	666	c.478C>T	c.(478-480)Ctt>Ttt	p.L160F	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	160	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCCTCCTTTTCTTGAAAGTGG	0.423																																						dbGAP											0													96.0	83.0	87.0					2																	10008483		2203	4300	6503	-	-	-	SO:0001583	missense	0			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.478C>T	2.37:g.10008483C>T	ENSP00000263663:p.Leu160Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	pfam_TF_Rrn7	p.L160F	ENST00000263663.5	37	c.478	CCDS33143.1	2	.	.	.	.	.	.	.	.	.	.	C	8.036	0.762763	0.15914	.	.	ENSG00000115750	ENST00000263663;ENST00000402170	T	0.12984	2.63	4.69	2.86	0.33363	.	1.262460	0.05157	N	0.497100	T	0.09512	0.0234	N	0.08118	0	0.18873	N	0.999985	B;P;B	0.34780	0.379;0.468;0.178	B;B;B	0.36030	0.157;0.216;0.055	T	0.41752	-0.9491	9	.	.	.	-0.0471	11.8281	0.52280	0.0:0.5102:0.4898:0.0	.	160;160;160	B5MD29;Q53T94;Q53T94-2	.;TAF1B_HUMAN;.	F	160	ENSP00000263663:L160F	.	L	+	1	0	TAF1B	9925934	0.187000	0.23238	0.088000	0.20740	0.233000	0.25261	0.598000	0.24074	0.841000	0.35020	-0.165000	0.13383	CTT	TAF1B	-	NULL	ENSG00000115750		0.423	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2	230	0.00	0	C	NM_005680		10008483	10008483	+1	no_errors	ENST00000263663	ensembl	human	known	69_37n	missense	198	22.57	58	SNP	0.042	T
HIRIP3	8479	genome.wustl.edu	37	16	30002257	30002257	+	IGR	DEL	C	C	-			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr16:30002257delC	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Frame_Shift_Del_p.V866fs	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						AGCAGAGGGTCGCGCTGCGGC	0.657																																						dbGAP											0													27.0	30.0	29.0					16																	30002257		2197	4297	6494	-	-	-	SO:0001628	intergenic_variant	0			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002257delC		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BSR3|O75707|O75708	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A867fs	ENST00000279392.3	37	c.2598	CCDS10664.1	16																																																																																			TAOK2	-	NULL	ENSG00000149930		0.657	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255160.2	28	0.00	0	C	NM_003609		30002257	30002257	+1	no_errors	ENST00000279394	ensembl	human	known	69_37n	frame_shift_del	19	36.67	11	DEL	0.610	-
TGM2	7052	genome.wustl.edu	37	20	36766744	36766744	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr20:36766744C>T	ENST00000361475.2	-	10	1559	c.1386G>A	c.(1384-1386)ctG>ctA	p.L462L	TGM2_ENST00000536701.1_Silent_p.L381L|TGM2_ENST00000536724.1_Silent_p.L402L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	462					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCAGTTTGTTCAGGTGGTTCG	0.567																																						dbGAP											0													107.0	92.0	97.0					20																	36766744		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1386G>A	20.37:g.36766744C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L462	ENST00000361475.2	37	c.1386	CCDS13302.1	20																																																																																			TGM2	-	NULL	ENSG00000198959		0.567	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	138	0.00	0	C	NM_198951		36766744	36766744	-1	no_errors	ENST00000361475	ensembl	human	known	69_37n	silent	65	21.69	18	SNP	0.991	T
TLN2	83660	genome.wustl.edu	37	15	63128260	63128260	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr15:63128260G>T	ENST00000561311.1	+	56	7592	c.7362G>T	c.(7360-7362)atG>atT	p.M2454I	RP11-1069G10.1_ENST00000558888.1_RNA|RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.M2454I			Q9Y4G6	TLN2_HUMAN	talin 2	2454	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				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						CAGAGGCCATGAGGCGGCTAC	0.582																																						dbGAP											0													20.0	21.0	21.0					15																	63128260		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.7362G>T	15.37:g.63128260G>T	ENSP00000453508:p.Met2454Ile	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.M2454I	ENST00000561311.1	37	c.7362	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756471	0.89843	.	.	ENSG00000171914	ENST00000306829	T	0.41400	1.0	5.35	5.35	0.76521	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.66939	2.045	0.80722	D	1	P;D	0.58620	0.795;0.983	P;D	0.79108	0.707;0.992	T	0.57277	-0.7839	10	0.25106	T	0.35	-28.4623	19.0539	0.93055	0.0:0.0:1.0:0.0	.	55;2454	B4DGF3;Q9Y4G6	.;TLN2_HUMAN	I	2454	ENSP00000303476:M2454I	ENSP00000303476:M2454I	M	+	3	0	TLN2	60915313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.518000	0.84900	0.555000	0.69702	ATG	TLN2	-	pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ	ENSG00000171914		0.582	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	21	0.00	0	G			63128260	63128260	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	T
TMEM194A	23306	genome.wustl.edu	37	12	57464509	57464509	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr12:57464509G>A	ENST00000300128.4	-	3	443	c.420C>T	c.(418-420)ctC>ctT	p.L140L	TMEM194A_ENST00000553654.1_5'UTR|TMEM194A_ENST00000379391.3_Intron	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	140						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCTCAACTTTGAGGCAGGTTT	0.383																																						dbGAP											0													248.0	213.0	224.0					12																	57464509		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.420C>T	12.37:g.57464509G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17R72|Q68DH0|Q6IQ25	Silent	SNP	pfam_DUF2215	p.L140	ENST00000300128.4	37	c.420	CCDS44927.1	12																																																																																			TMEM194A	-	NULL	ENSG00000166881		0.383	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM194A	HGNC	protein_coding	OTTHUMT00000411272.1	47	0.00	0	G	NM_015257		57464509	57464509	-1	no_errors	ENST00000300128	ensembl	human	known	69_37n	silent	29	32.56	14	SNP	1.000	A
TNFSF15	9966	genome.wustl.edu	37	9	117552737	117552737	+	Silent	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:117552737G>A	ENST00000374045.4	-	4	864	c.751C>T	c.(751-753)Cta>Tta	p.L251L	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Silent_p.L174L	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	251					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TCCTCCTATAGTAAGAAGGCT	0.403																																						dbGAP											0													90.0	96.0	94.0					9																	117552737		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.751C>T	9.37:g.117552737G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c	p.L251	ENST00000374045.4	37	c.751	CCDS6809.1	9																																																																																			TNFSF15	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	ENSG00000181634		0.403	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF15	HGNC	protein_coding	OTTHUMT00000055424.2	225	0.00	0	G	NM_005118		117552737	117552737	-1	no_errors	ENST00000374045	ensembl	human	known	69_37n	silent	209	18.99	49	SNP	0.996	A
TNC	3371	genome.wustl.edu	37	9	117848731	117848731	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:117848731C>T	ENST00000350763.4	-	3	1690	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	TNC_ENST00000345230.3_Missense_Mutation_p.E427K|TNC_ENST00000542877.1_Missense_Mutation_p.E427K|TNC_ENST00000346706.3_Missense_Mutation_p.E427K|TNC_ENST00000537320.1_Missense_Mutation_p.E427K|TNC_ENST00000423613.2_Missense_Mutation_p.E427K|TNC_ENST00000341037.4_Missense_Mutation_p.E427K|TNC_ENST00000535648.1_Missense_Mutation_p.E427K|TNC_ENST00000340094.3_Missense_Mutation_p.E427K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	427	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTATAGCCCTCATCACACACA	0.577																																						dbGAP											0													141.0	115.0	124.0					9																	117848731		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1279G>A	9.37:g.117848731C>T	ENSP00000265131:p.Glu427Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	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.E427K	ENST00000350763.4	37	c.1279	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459232	0.43634	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.70986	2.88;-0.53;2.88;2.88;-0.53;-0.53;-0.53;2.88;2.88	5.44	4.55	0.56014	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.300508	0.40728	N	0.001025	T	0.68714	0.3031	L	0.39147	1.195	0.43485	D	0.995716	P;B	0.42161	0.772;0.066	P;B	0.46758	0.526;0.155	T	0.70428	-0.4874	10	0.51188	T	0.08	.	13.6105	0.62076	0.0:0.9249:0.0:0.0751	.	427;427	E9PC84;P24821	.;TENA_HUMAN	K	427	ENSP00000344400:E427K;ENSP00000438152:E427K;ENSP00000344555:E427K;ENSP00000345861:E427K;ENSP00000265131:E427K;ENSP00000339553:E427K;ENSP00000411406:E427K;ENSP00000443478:E427K;ENSP00000442242:E427K	ENSP00000344400:E427K	E	-	1	0	TNC	116888552	0.816000	0.29132	0.916000	0.36221	0.005000	0.04900	2.016000	0.40971	1.430000	0.47334	0.563000	0.77884	GAG	TNC	-	pfam_EGF_extracell,smart_EGF-like	ENSG00000041982		0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	164	0.00	0	C	NM_002160		117848731	117848731	-1	no_errors	ENST00000350763	ensembl	human	known	69_37n	missense	146	16.48	29	SNP	0.995	T
TNXB	7148	genome.wustl.edu	37	6	32041678	32041678	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr6:32041678C>T	ENST00000375244.3	-	12	4628	c.4427G>A	c.(4426-4428)cGc>cAc	p.R1476H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1476H			P22105	TENX_HUMAN	tenascin XB	1563	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCTCCTAGGCGTGGCTCCAG	0.572																																						dbGAP											0													30.0	32.0	31.0					6																	32041678		1234	2552	3786	-	-	-	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.4427G>A	6.37:g.32041678C>T	ENSP00000364393:p.Arg1476His	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.R1476H	ENST00000375244.3	37	c.4427		6	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563262	0.27915	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58506	0.51;0.33	5.46	0.457	0.16661	.	1.114660	0.06937	N	0.812089	T	0.50820	0.1638	M	0.82323	2.585	0.19945	N	0.999948	D	0.57571	0.98	P	0.52710	0.707	T	0.35276	-0.9795	10	0.42905	T	0.14	.	5.0891	0.14698	0.1325:0.5653:0.0:0.3021	.	1476	P22105-3	.	H	1476	ENSP00000364393:R1476H;ENSP00000364396:R1476H	ENSP00000364393:R1476H	R	-	2	0	TNXB	32149656	0.001000	0.12720	0.362000	0.25862	0.381000	0.30169	-0.047000	0.11963	-0.235000	0.09767	0.543000	0.68304	CGC	TNXB	-	smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.572	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	40	0.00	0	C	NM_019105		32041678	32041678	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.715	T
TP53	7157	genome.wustl.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L194R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACTCGGATAAGATGCTGAGG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)											97.0	87.0	90.0					17																	7578268		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L194R	ENST00000269305.4	37	c.581	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	148	0.00	0	A	NM_000546		7578268	7578268	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	61	22.78	18	SNP	0.996	C
TRAM1L1	133022	genome.wustl.edu	37	4	118006513	118006514	+	Frame_Shift_Ins	INS	-	-	G	rs113650718	byFrequency	TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr4:118006513_118006514insG	ENST00000310754.4	-	1	222_223	c.36_37insC	c.(34-39)cccgttfs	p.V13fs		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	13					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGCTGAGAACGGGGGGGTTCT	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.37dupC	4.37:g.118006520_118006520dupG	ENSP00000309402:p.Val13fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2L7	Frame_Shift_Ins	INS	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.V12fs	ENST00000310754.4	37	c.37_36	CCDS3707.1	4																																																																																			TRAM1L1	-	pirsf_Translocation_assoc_membrane	ENSG00000174599		0.619	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	44	0.00	0	-	NM_152402		118006513	118006514	-1	no_errors	ENST00000310754	ensembl	human	known	69_37n	frame_shift_ins	28	15.15	5	INS	0.973:0.971	G
TUBGCP2	10844	genome.wustl.edu	37	10	135103338	135103339	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr10:135103338_135103339insC	ENST00000252936.3	-	8	1388_1389	c.1349_1350insG	c.(1348-1350)atcfs	p.I450fs	TUBGCP2_ENST00000368563.2_Frame_Shift_Ins_p.I450fs|TUBGCP2_ENST00000543663.1_Frame_Shift_Ins_p.I478fs|TUBGCP2_ENST00000417178.2_Frame_Shift_Ins_p.I320fs|TUBGCP2_ENST00000368562.1_Frame_Shift_Ins_p.I43fs			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	450					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTGTGCTGAGGATCTTGTCCGC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1349_1350insG	10.37:g.135103338_135103339insC	ENSP00000252936:p.Ile450fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Frame_Shift_Ins	INS	pfam_Spc97_Spc98,superfamily_Ocr	p.I478fs	ENST00000252936.3	37	c.1434_1433	CCDS7676.1	10																																																																																			TUBGCP2	-	pfam_Spc97_Spc98,superfamily_Ocr	ENSG00000130640		0.634	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	25	0.00	0	-			135103338	135103339	-1	no_errors	ENST00000543663	ensembl	human	known	69_37n	frame_shift_ins	10	41.18	7	INS	0.998:1.000	C
UPF1	5976	genome.wustl.edu	37	19	18966900	18966900	+	Splice_Site	DEL	T	T	-			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr19:18966900delT	ENST00000599848.1	+	12	1951		c.e12+2		UPF1_ENST00000262803.5_Splice_Site			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)						ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CATGGACAGGTGTGTGTCGAG	0.602																																						dbGAP											0													65.0	56.0	59.0					19																	18966900		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1742+2T>-	19.37:g.18966900delT		Somatic		WXS	Illumina GAIIx	Phase_IV	O00239|O43343|Q86Z25|Q92842	Splice_Site	DEL	-	e12+2	ENST00000599848.1	37	c.1709+2		19																																																																																			UPF1	-	-	ENSG00000005007		0.602	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	30	0.00	0	T	NM_002911	Intron	18966900	18966900	+1	no_errors	ENST00000262803	ensembl	human	known	69_37n	splice_site_del	11	40.91	9	DEL	0.998	-
VWA3B	200403	genome.wustl.edu	37	2	98928506	98928507	+	Intron	INS	-	-	G	rs374561862|rs550251243	byFrequency	TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr2:98928506_98928507insG	ENST00000477737.1	+	27	3939				VWA3B_ENST00000490947.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B											NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTTTGGGTGATGGGGGGGGAAC	0.594													GGGGGGG|GGGGGGGG|GGGGGGGGG|cryptic_indel	5	0.000998403	0.0023	0.0	5008	,	,		17671	0.002		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3735+11->G	2.37:g.98928514_98928514dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Frame_Shift_Ins	INS	pfscan_VWF_A	p.T662fs	ENST00000477737.1	37	c.1977_1978	CCDS42718.1	2																																																																																			VWA3B	-	NULL	ENSG00000168658		0.594	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	40	0.00	0	-	NM_144992		98928506	98928507	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000473149	ensembl	human	putative	69_37n	frame_shift_ins	26	13.33	4	INS	0.000:0.004	G
RBBP4	5928	genome.wustl.edu	37	1	33116131	33116131	+	5'Flank	SNP	G	G	A			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:33116131G>A	ENST00000373493.5	+	0	0				RBBP4_ENST00000544435.1_5'Flank|ZBTB8OS_ENST00000373501.2_5'UTR|RBBP4_ENST00000373485.1_5'Flank|RBBP4_ENST00000458695.2_5'Flank|RBBP4_ENST00000414241.3_5'Flank|ZBTB8OS_ENST00000468695.1_Silent_p.V12V|ZBTB8OS_ENST00000492007.1_5'UTR|ZBTB8OS_ENST00000341885.5_Silent_p.V12V	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCTGCGCCATGACTGCAGGAT	0.522																																						dbGAP											0													219.0	199.0	206.0					1																	33116131		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998		1.37:g.33116131G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	pfam_Archease_dom,superfamily_Archease_dom	p.H11Y	ENST00000373493.5	37	c.31	CCDS366.1	1	.	.	.	.	.	.	.	.	.	.	G	1.562	-0.536493	0.04082	.	.	ENSG00000176261	ENST00000436661	.	.	.	5.66	1.36	0.22044	.	.	.	.	.	T	0.55465	0.1922	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45571	-0.9252	4	.	.	.	0.2552	8.2671	0.31821	0.158:0.3136:0.5284:0.0	.	.	.	.	Y	11	.	.	H	-	1	0	ZBTB8OS	32888718	0.000000	0.05858	0.497000	0.27552	0.010000	0.07245	-0.992000	0.03724	0.111000	0.17947	-0.795000	0.03280	CAT	ZBTB8OS	-	NULL	ENSG00000176261		0.522	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB8OS	HGNC	protein_coding	OTTHUMT00000021957.3	164	0.00	0	G	NM_005610		33116131	33116131	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000436661	ensembl	human	known	69_37n	missense	106	24.29	34	SNP	0.440	A
ZC3HAV1	56829	genome.wustl.edu	37	7	138774481	138774481	+	Silent	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:138774481C>T	ENST00000242351.5	-	2	649	c.333G>A	c.(331-333)gaG>gaA	p.E111E	ZC3HAV1_ENST00000464606.1_Silent_p.E111E|ZC3HAV1_ENST00000471652.1_Silent_p.E111E	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	111	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CTGAGAGAACCTCATGAGAAT	0.383																																						dbGAP											0													92.0	85.0	87.0					7																	138774481		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.333G>A	7.37:g.138774481C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E111	ENST00000242351.5	37	c.333	CCDS5851.1	7																																																																																			ZC3HAV1	-	NULL	ENSG00000105939		0.383	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	104	0.00	0	C	NM_020119		138774481	138774481	-1	no_errors	ENST00000242351	ensembl	human	known	69_37n	silent	77	28.70	31	SNP	0.003	T
ZCCHC11	23318	genome.wustl.edu	37	1	52956444	52956444	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:52956444G>T	ENST00000371544.3	-	8	1610	c.1348C>A	c.(1348-1350)Cac>Aac	p.H450N	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.H450N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	450					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ACTTTAGCGTGAAAATCAGAT	0.303																																						dbGAP											0													56.0	57.0	57.0					1																	52956444		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1348C>A	1.37:g.52956444G>T	ENSP00000360599:p.His450Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.H450N	ENST00000371544.3	37	c.1348	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871519	0.91587	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	L	0.47190	1.495	0.80722	D	1	D;P;D	0.71674	0.998;0.843;0.998	D;P;D	0.79108	0.992;0.715;0.987	T	0.27331	-1.0077	10	0.22109	T	0.4	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	209;450;450	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	N	450;450;450;209	ENSP00000257177:H450N;ENSP00000360599:H450N;ENSP00000433486:H450N;ENSP00000435256:H209N	ENSP00000257177:H450N	H	-	1	0	ZCCHC11	52729032	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.652000	0.91083	2.894000	0.99253	0.655000	0.94253	CAC	ZCCHC11	-	NULL	ENSG00000134744		0.303	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	102	0.00	0	G	XM_038288		52956444	52956444	-1	no_errors	ENST00000257177	ensembl	human	known	69_37n	missense	62	27.06	23	SNP	1.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77767690	77767690	+	Missense_Mutation	SNP	C	C	G	rs147468121	byFrequency	TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr8:77767690C>G	ENST00000521891.2	+	10	8981	c.8533C>G	c.(8533-8535)Ctg>Gtg	p.L2845V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2800V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2819V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2800V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2800					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCAAAAACTCTGGATACTCT	0.493										HNSCC(33;0.089)			C|||	2	0.000399361	0.0015	0.0	5008	,	,		17675	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													67.0	69.0	68.0					8																	77767690		1923	4137	6060	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8533C>G	8.37:g.77767690C>G	ENSP00000430497:p.Leu2845Val	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L2845V	ENST00000521891.2	37	c.8533	CCDS47878.2	8	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.194	0.034648	0.08101	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.48836	0.8;0.85;0.82;0.82	5.25	4.37	0.52481	.	0.000000	0.39985	U	0.001208	T	0.36771	0.0979	N	0.22421	0.69	0.22531	N	0.999018	B;B;P	0.37423	0.001;0.001;0.594	B;B;P	0.44696	0.001;0.003;0.458	T	0.21827	-1.0234	10	0.08381	T	0.77	.	11.7132	0.51637	0.139:0.7272:0.1338:0.0	.	2800;2800;2845	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	2845;2829;2800;2800;2819	ENSP00000430497:L2845V;ENSP00000399605:L2800V;ENSP00000050961:L2800V;ENSP00000430848:L2819V	ENSP00000050961:L2800V	L	+	1	2	ZFHX4	77930245	0.860000	0.29831	0.137000	0.22149	0.047000	0.14425	1.487000	0.35540	1.430000	0.47334	-0.305000	0.09177	CTG	ZFHX4	-	NULL	ENSG00000091656		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	108	0.00	0	C	NM_024721		77767690	77767690	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	98	11.71	13	SNP	0.759	G
ZMYM4	9202	genome.wustl.edu	37	1	35870691	35870691	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr1:35870691C>T	ENST00000314607.6	+	24	3676	c.3596C>T	c.(3595-3597)tCa>tTa	p.S1199L	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S1110L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1199					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAGGCTGCTCAGTGTCCGGG	0.443																																						dbGAP											0													73.0	81.0	78.0					1																	35870691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3596C>T	1.37:g.35870691C>T	ENSP00000322915:p.Ser1199Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.S1199L	ENST00000314607.6	37	c.3596	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910897	0.92178	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.26223	1.75;1.81	5.95	5.95	0.96441	.	0.082013	0.50627	D	0.000112	T	0.32585	0.0834	L	0.55481	1.735	0.46849	D	0.999224	B	0.22003	0.063	B	0.28638	0.092	T	0.03249	-1.1056	10	0.39692	T	0.17	-9.4071	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1199	Q5VZL5	ZMYM4_HUMAN	L	1199;1110	ENSP00000322915:S1199L;ENSP00000362394:S1110L	ENSP00000322915:S1199L	S	+	2	0	ZMYM4	35643278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.311000	0.65786	2.824000	0.97209	0.655000	0.94253	TCA	ZMYM4	-	NULL	ENSG00000146463		0.443	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	144	0.00	0	C	NM_005095		35870691	35870691	+1	no_errors	ENST00000314607	ensembl	human	known	69_37n	missense	175	14.63	30	SNP	1.000	T
ZNF143	7702	genome.wustl.edu	37	11	9546958	9546958	+	Intron	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr11:9546958C>G	ENST00000396602.2	+	15	1952				ZNF143_ENST00000299606.2_Intron|ZNF143_ENST00000530463.1_Intron|ZNF143_ENST00000396604.1_Intron|ZNF143_ENST00000396597.3_Intron	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143						gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ATACTGTCCTCAGTCGACAGC	0.463																																						dbGAP											0													186.0	140.0	156.0					11																	9546958		2201	4294	6495	-	-	-	SO:0001627	intron_variant	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1833+25C>G	11.37:g.9546958C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Nonsense_Mutation	SNP	NULL	p.S145*	ENST00000396602.2	37	c.434	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.117939	0.01785	.	.	ENSG00000166478	ENST00000447186	.	.	.	4.24	2.3	0.28687	.	.	.	.	.	.	.	.	.	.	.	0.20307	N	0.999916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9878	0.24737	0.1784:0.7258:0.0:0.0958	.	.	.	.	X	145	.	.	S	+	2	0	ZNF143	9503534	0.002000	0.14202	0.001000	0.08648	0.086000	0.17979	-0.415000	0.07106	0.682000	0.31407	0.655000	0.94253	TCA	ZNF143	-	NULL	ENSG00000166478		0.463	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	159	0.00	0	C	NM_003442		9546958	9546958	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000447186	ensembl	human	putative	69_37n	nonsense	69	30.30	30	SNP	0.005	G
ZKSCAN7	55888	genome.wustl.edu	37	3	44612634	44612634	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr3:44612634C>T	ENST00000273320.3	+	6	2461	c.2032C>T	c.(2032-2034)Ctt>Ttt	p.L678F	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.L678F|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	678					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)										TAGCTCCAGCCTTATGGTACA	0.408																																						dbGAP											0													110.0	115.0	113.0					3																	44612634		2203	4300	6503	-	-	-	SO:0001583	missense	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2032C>T	3.37:g.44612634C>T	ENSP00000273320:p.Leu678Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L678F	ENST00000273320.3	37	c.2032	CCDS2715.1	3	.	.	.	.	.	.	.	.	.	.	.	17.04	3.287001	0.59867	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.52057	0.68;0.68	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30118	N	0.010371	T	0.62466	0.2430	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63363	-0.6654	10	0.46703	T	0.11	-6.9277	15.5027	0.75713	0.0:1.0:0.0:0.0	.	678	Q9P0L1	ZN167_HUMAN	F	678;678;116	ENSP00000395524:L678F;ENSP00000273320:L678F	ENSP00000273320:L678F	L	+	1	0	ZNF167	44587638	0.719000	0.27986	0.915000	0.36163	0.989000	0.77384	1.406000	0.34646	2.179000	0.69175	0.655000	0.94253	CTT	ZNF167	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196345		0.408	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF167	HGNC	protein_coding	OTTHUMT00000256752.4	329	0.30	1	C	NM_018651		44612634	44612634	+1	no_errors	ENST00000273320	ensembl	human	known	69_37n	missense	215	43.86	168	SNP	0.980	T
ZNF483	158399	genome.wustl.edu	37	9	114305214	114305214	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr9:114305214G>C	ENST00000309235.5	+	6	2157	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	667					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TAAATGTAAAGAATGTGGGAA	0.413																																						dbGAP											0													57.0	57.0	57.0					9																	114305214		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1999G>C	9.37:g.114305214G>C	ENSP00000311679:p.Glu667Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E667Q	ENST00000309235.5	37	c.1999	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604580	0.28623	.	.	ENSG00000173258	ENST00000309235	T	0.07444	3.19	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.463174	0.18328	N	0.144587	T	0.08179	0.0204	L	0.37800	1.135	0.58432	D	0.999999	P	0.39601	0.68	B	0.36418	0.224	T	0.27971	-1.0058	10	0.48119	T	0.1	-13.4333	14.0547	0.64761	0.0:0.0:1.0:0.0	.	667	Q8TF39	ZN483_HUMAN	Q	667	ENSP00000311679:E667Q	ENSP00000311679:E667Q	E	+	1	0	ZNF483	113345035	0.003000	0.15002	0.998000	0.56505	0.933000	0.57130	0.702000	0.25631	2.436000	0.82500	0.655000	0.94253	GAA	ZNF483	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173258		0.413	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	246	0.00	0	G	XM_088567		114305214	114305214	+1	no_errors	ENST00000309235	ensembl	human	known	69_37n	missense	284	21.27	77	SNP	0.837	C
ZNF506	440515	genome.wustl.edu	37	19	19906419	19906419	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr19:19906419C>G	ENST00000540806.2	-	4	365	c.277G>C	c.(277-279)Gat>Cat	p.D93H	ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000443905.2_Missense_Mutation_p.D93H|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.D61H|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TGGAAAGAATCTTTTATGCTC	0.333																																						dbGAP											0													41.0	42.0	42.0					19																	19906419		2088	4240	6328	-	-	-	SO:0001583	missense	0			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.277G>C	19.37:g.19906419C>G	ENSP00000440625:p.Asp93His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTH6	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.D93H	ENST00000540806.2	37	c.277	CCDS42531.1	19	.	.	.	.	.	.	.	.	.	.	c	3.927	-0.016967	0.07681	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.07327	3.32;3.32;3.2	1.46	0.304	0.15796	.	.	.	.	.	T	0.23965	0.0580	M	0.80847	2.515	0.09310	N	1	P;D	0.89917	0.558;1.0	B;D	0.91635	0.234;0.999	T	0.09058	-1.0692	9	0.72032	D	0.01	.	4.0152	0.09641	0.0:0.5456:0.0:0.4544	.	93;61	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	H	93;93;61	ENSP00000393835:D93H;ENSP00000440625:D93H;ENSP00000408892:D61H	ENSP00000393835:D93H	D	-	1	0	ZNF506	19767419	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.708000	0.05035	-0.285000	0.09089	-0.465000	0.05216	GAT	ZNF506	-	NULL	ENSG00000081665		0.333	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	176	0.00	0	C	XM_036218		19906419	19906419	-1	no_errors	ENST00000443905	ensembl	human	known	69_37n	missense	131	25.00	44	SNP	0.001	G
ZNF587	84914	genome.wustl.edu	37	19	58371378	58371378	+	Missense_Mutation	SNP	C	C	G	rs552665720		TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr19:58371378C>G	ENST00000339656.5	+	3	1780	c.1598C>G	c.(1597-1599)tCc>tGc	p.S533C	ZNF587_ENST00000423137.1_Missense_Mutation_p.S532C|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.S490C|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	533					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(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		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;0.0264)		TCTGAATGTTCCAGTCTCATT	0.398													.|||	1	0.000199681	0.0008	0.0	5008	,	,		22835	0.0		0.0	False		,,,				2504	0.0				Pancreas(59;641 1233 1885 20055 50741)	dbGAP											0													111.0	110.0	110.0					19																	58371378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1598C>G	19.37:g.58371378C>G	ENSP00000345479:p.Ser533Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV72|G3V0H5|Q6ZMK8	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.S533C	ENST00000339656.5	37	c.1598	CCDS12964.1	19	.	.	.	.	.	.	.	.	.	.	.	13.72	2.321961	0.41096	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.01725	4.67;4.67;4.67	1.93	1.93	0.25924	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	M	0.87038	2.855	0.24824	N	0.992567	P;D	0.89917	0.94;1.0	P;P	0.62813	0.712;0.907	T	0.05989	-1.0852	8	0.66056	D	0.02	.	7.6933	0.28579	0.0:0.7349:0.2651:0.0	.	532;533	G3V0H5;Q96SQ5	.;ZN587_HUMAN	C	490;532;533;533;490	ENSP00000393865:S532C;ENSP00000345479:S533C;ENSP00000406999:S490C	ENSP00000345479:S533C	S	+	2	0	ZNF587	63063190	0.000000	0.05858	0.004000	0.12327	0.502000	0.33828	-0.062000	0.11674	1.043000	0.40175	0.195000	0.17529	TCC	ZNF587	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198466		0.398	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000337594.2	613	0.00	0	C	NM_032828		58371378	58371378	+1	no_errors	ENST00000339656	ensembl	human	known	69_37n	missense	352	23.21	107	SNP	0.001	G
ZNF736	728927	genome.wustl.edu	37	7	63809412	63809412	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr7:63809412C>G	ENST00000423484.2	+	4	1293	c.1171C>G	c.(1171-1173)Cac>Gac	p.H391D	ZNF736_ENST00000355095.4_Missense_Mutation_p.H391D			B4DX44	ZN736_HUMAN	zinc finger protein 736	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						TAAGAGAATTCACACTGGAGA	0.398																																						dbGAP											0													28.0	28.0	28.0					7																	63809412		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"""Zinc fingers, C2H2-type"", ""-"""	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.1171C>G	7.37:g.63809412C>G	ENSP00000400852:p.His391Asp	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.H391D	ENST00000423484.2	37	c.1171	CCDS55114.1	7	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463949	0.43736	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.67698	-0.28;-0.28	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85600	0.5734	H	0.97587	4.035	0.28292	N	0.923483	D	0.69078	0.997	D	0.80764	0.994	T	0.75488	-0.3300	9	0.87932	D	0	.	7.7491	0.28886	0.0:1.0:0.0:0.0	.	391	B4DX44	ZN736_HUMAN	D	391	ENSP00000347210:H391D;ENSP00000400852:H391D	ENSP00000347210:H391D	H	+	1	0	ZNF736	63446847	0.997000	0.39634	0.028000	0.17463	0.028000	0.11728	5.366000	0.66122	0.561000	0.29186	0.313000	0.20887	CAC	ZNF736	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000234444		0.398	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF736	HGNC	protein_coding	OTTHUMT00000344559.2	111	0.00	0	C	NM_001170905		63809412	63809412	+1	no_errors	ENST00000355095	ensembl	human	known	69_37n	missense	120	29.82	51	SNP	1.000	G
ZWILCH	55055	genome.wustl.edu	37	15	66807907	66807907	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0IK-01A-12W-A071-09	TCGA-B6-A0IK-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c5b1f426-562e-44e4-bcce-ce2ff6d969c8	79f55c96-edea-4b81-a4de-5df5e55df162	g.chr15:66807907C>G	ENST00000307897.5	+	4	625	c.245C>G	c.(244-246)tCt>tGt	p.S82C	RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_5'UTR|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000565627.1_5'UTR|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000564517.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	82					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GAACTTCAATCTGAAGAAACT	0.368																																						dbGAP											0													98.0	93.0	95.0					15																	66807907		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.245C>G	15.37:g.66807907C>G	ENSP00000311429:p.Ser82Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	pfam_RZZ-complex_zwilch	p.S82C	ENST00000307897.5	37	c.245	CCDS10219.1	15	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974221	0.34848	.	.	ENSG00000174442	ENST00000307897	T	0.47869	0.83	5.36	4.43	0.53597	.	0.974128	0.08491	N	0.937972	T	0.39226	0.1070	L	0.27053	0.805	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.06391	-1.0829	10	0.49607	T	0.09	-0.9235	12.1206	0.53889	0.0:0.8272:0.1728:0.0	.	82	Q9H900	ZWILC_HUMAN	C	82	ENSP00000311429:S82C	ENSP00000311429:S82C	S	+	2	0	ZWILCH	64594961	0.849000	0.29639	0.818000	0.32626	0.900000	0.52787	1.559000	0.36320	1.239000	0.43787	0.650000	0.86243	TCT	ZWILCH	-	pfam_RZZ-complex_zwilch	ENSG00000174442		0.368	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4	124	0.00	0	C	NM_017975		66807907	66807907	+1	no_errors	ENST00000307897	ensembl	human	known	69_37n	missense	83	19.42	20	SNP	0.929	G
